#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NOC2L	26155	broad.mit.edu	37	1	886571	886571	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:886571C>A	ENST00000327044.6	-	12	1428	c.1379G>T	c.(1378-1380)cGt>cTt	p.R460L		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	460					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CGTCAGGGCACGGATGCAGTG	0.687																																						uc001abz.3		NA																	0				ovary(1)|skin(1)	2						c.(1378-1380)CGT>CTT		nucleolar complex associated 2 homolog							43.0	36.0	39.0					1																	886571		2190	4286	6476	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:886571C>A	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.1379G>T	1.37:g.886571C>A	ENSP00000317992:p.Arg460Leu					NOC2L_uc001aby.3_Missense_Mutation_p.R257L|NOC2L_uc009vjq.2_Missense_Mutation_p.R460L	p.R460L	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	12	1438	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	460					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.1379G>T	CCDS3.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557584	0.65425	.	.	ENSG00000188976	ENST00000327044	T	0.49139	0.79	3.83	3.83	0.44106	Armadillo-type fold (1);	0.061993	0.64402	D	0.000007	T	0.74129	0.3676	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.995	T	0.81758	-0.0786	10	0.72032	D	0.01	-15.4873	15.2501	0.73539	0.0:1.0:0.0:0.0	.	460;460;227	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	L	460	ENSP00000317992:R460L	ENSP00000317992:R460L	R	-	2	0	NOC2L	876434	1.000000	0.71417	0.157000	0.22605	0.249000	0.25844	5.462000	0.66707	2.152000	0.67230	0.462000	0.41574	CGT		0.687	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		3	6	1	0	0.004672	0.00619083	3	6				
CCDC27	148870	broad.mit.edu	37	1	3683848	3683848	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:3683848G>C	ENST00000294600.2	+	10	1666	c.1582G>C	c.(1582-1584)Gag>Cag	p.E528Q		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	528										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TGTCATCTCAGAGTTGGACAC	0.567																																						uc001akv.2		NA																	0				skin(1)	1						c.(1582-1584)GAG>CAG		coiled-coil domain containing 27							56.0	56.0	56.0					1																	3683848		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3683848G>C		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1582G>C	1.37:g.3683848G>C	ENSP00000294600:p.Glu528Gln						p.E528Q	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	10	1663	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	528					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.1582G>C	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.716849	0.48622	.	.	ENSG00000162592	ENST00000294600	T	0.20881	2.04	5.24	3.32	0.38043	.	0.303987	0.28104	N	0.016599	T	0.26011	0.0634	L	0.34521	1.04	0.09310	N	1	D	0.57899	0.981	P	0.58970	0.849	T	0.04041	-1.0982	10	0.52906	T	0.07	-21.5888	6.8776	0.24155	0.0958:0.1778:0.7264:0.0	.	528	Q2M243	CCD27_HUMAN	Q	528	ENSP00000294600:E528Q	ENSP00000294600:E528Q	E	+	1	0	CCDC27	3673708	0.653000	0.27358	0.008000	0.14137	0.034000	0.12701	3.224000	0.51238	0.550000	0.28991	0.655000	0.94253	GAG		0.567	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		6	30	0	0	0	0	6	30				
MTHFR	4524	broad.mit.edu	37	1	11851316	11851316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:11851316C>T	ENST00000376592.1	-	10	1828	c.1700G>A	c.(1699-1701)cGa>cAa	p.R567Q	MTHFR_ENST00000376590.3_Missense_Mutation_p.R567Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.R608Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.R608Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	567					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GATGATCTCTCGCCCAGGGAA	0.602																																						uc001atc.1		NA																	0					0						c.(1699-1701)CGA>CAA		5,10-methylenetetrahydrofolate reductase	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						84.0	81.0	82.0					1																	11851316		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11851316C>T	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1700G>A	1.37:g.11851316C>T	ENSP00000365777:p.Arg567Gln					MTHFR_uc001atb.1_Missense_Mutation_p.R590Q	p.R567Q	NM_005957	NP_005948	P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	11	1884	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	567					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.1700G>A	CCDS137.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646666	0.87958	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	L	0.45744	1.44	0.53688	D	0.99997	B;P	0.40638	0.222;0.725	B;B	0.27262	0.028;0.078	T	0.66862	-0.5816	10	0.52906	T	0.07	.	15.8398	0.78837	0.0:1.0:0.0:0.0	.	567;608	P42898;Q5SNW6	MTHR_HUMAN;.	Q	567;608;567;608	ENSP00000365777:R567Q;ENSP00000365767:R608Q;ENSP00000365775:R567Q;ENSP00000365770:R608Q	ENSP00000365767:R608Q	R	-	2	0	MTHFR	11773903	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.439000	0.59968	2.419000	0.82065	0.655000	0.94253	CGA		0.602	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		18	30	0	0	0	0	18	30				
PRDM2	7799	broad.mit.edu	37	1	14108593	14108593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:14108593C>T	ENST00000235372.7	+	8	5159	c.4303C>T	c.(4303-4305)Cag>Tag	p.Q1435*	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Nonsense_Mutation_p.Q1234*|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Nonsense_Mutation_p.Q1435*|PRDM2_ENST00000343137.4_Nonsense_Mutation_p.Q1234*|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1435	Arg/Lys-rich (basic).				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)		AGCAATTCTTCAGAAAAACAA	0.378																																						uc001avi.2		NA																	0				ovary(1)	1						c.(4303-4305)CAG>TAG		retinoblastoma protein-binding zinc finger							107.0	123.0	118.0					1																	14108593		2203	4300	6503	SO:0001587	stop_gained	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14108593C>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.4303C>T	1.37:g.14108593C>T	ENSP00000235372:p.Gln1435*					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Nonsense_Mutation_p.Q1435*|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Nonsense_Mutation_p.Q1234*|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.Q1435*	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	5159	+	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)	1435			Arg/Lys-rich (basic).		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Nonsense_Mutation	SNP	ENST00000235372.7	37	c.4303C>T	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	43	10.030732	0.99321	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.2359	0.93858	0.0:1.0:0.0:0.0	.	.	.	.	X	1435;1435;1435;1234;1234	.	ENSP00000235372:Q1435X	Q	+	1	0	PRDM2	13981180	1.000000	0.71417	0.974000	0.42286	0.987000	0.75469	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	CAG		0.378	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		65	139	0	0	0	0	65	139				
PRDM2	7799	broad.mit.edu	37	1	14108975	14108975	+	Missense_Mutation	SNP	C	C	T	rs61747666		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:14108975C>T	ENST00000235372.7	+	8	5541	c.4685C>T	c.(4684-4686)tCg>tTg	p.S1562L	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1361L|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1562L|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1361L|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1562					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)		TTTGCAGCTTCGGTGAAATCC	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18326	0.0		0.0	False		,,,				2504	0.0					uc001avi.2		NA																	0				ovary(1)	1						c.(4684-4686)TCG>TTG		retinoblastoma protein-binding zinc finger		C	LEU/SER,LEU/SER,LEU/SER,	0,4406		0,0,2203	64.0	69.0	67.0		4082,4685,4685,	5.9	0.9	1	dbSNP_129	67	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,intron	PRDM2	NM_001007257.2,NM_012231.4,NM_015866.4,NM_001135610.1	145,145,145,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,	1361/1482,1562/1719,1562/1683,	14108975	3,13003	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.chr1:14108975C>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.4685C>T	1.37:g.14108975C>T	ENSP00000235372:p.Ser1562Leu					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1562L|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S1361L|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.S1562L	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	5541	+	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)	1562					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.4685C>T	CCDS150.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.23	3.336551	0.60963	0.0	3.49E-4	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01854	4.78;4.67;4.6;4.6	5.95	5.95	0.96441	.	0.376195	0.28754	N	0.014242	T	0.07143	0.0181	L	0.57536	1.79	0.34331	D	0.687694	D;D;D	0.69078	0.997;0.984;0.981	P;B;B	0.54026	0.74;0.178;0.332	T	0.03193	-1.1062	10	0.66056	D	0.02	.	13.8634	0.63574	0.1526:0.8474:0.0:0.0	rs61747666	1420;1562;1562	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	L	1562;1562;1562;1361;1361	ENSP00000235372:S1562L;ENSP00000312352:S1562L;ENSP00000411103:S1361L;ENSP00000341621:S1361L	ENSP00000235372:S1562L	S	+	2	0	PRDM2	13981562	0.783000	0.28701	0.869000	0.34112	0.961000	0.63080	1.524000	0.35942	2.825000	0.97269	0.655000	0.94253	TCG		0.512	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		23	61	0	0	0	0	23	61				
PRDM2	7799	broad.mit.edu	37	1	14109005	14109005	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:14109005C>G	ENST00000235372.7	+	8	5571	c.4715C>G	c.(4714-4716)tCt>tGt	p.S1572C	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1371C|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1572C|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1371C|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1572					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)		AGCTCCTCCTCTTTAAGGAAC	0.488																																						uc001avi.2		NA																	0				ovary(1)	1						c.(4714-4716)TCT>TGT		retinoblastoma protein-binding zinc finger							61.0	65.0	63.0					1																	14109005		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.chr1:14109005C>G	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.4715C>G	1.37:g.14109005C>G	ENSP00000235372:p.Ser1572Cys					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1572C|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S1371C|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.S1572C	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	5571	+	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)	1572					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.4715C>G	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733141	0.48939	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01745	4.78;4.66;4.67;4.67	5.95	5.95	0.96441	.	0.179512	0.48286	D	0.000196	T	0.07863	0.0197	L	0.51422	1.61	0.41441	D	0.987928	D;D;D	0.89917	0.997;0.999;1.0	P;D;D	0.69479	0.891;0.921;0.964	T	0.02581	-1.1138	10	0.62326	D	0.03	.	17.1046	0.86659	0.0:1.0:0.0:0.0	.	1430;1572;1572	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	C	1572;1572;1572;1371;1371	ENSP00000235372:S1572C;ENSP00000312352:S1572C;ENSP00000411103:S1371C;ENSP00000341621:S1371C	ENSP00000235372:S1572C	S	+	2	0	PRDM2	13981592	0.283000	0.24277	0.983000	0.44433	0.991000	0.79684	3.094000	0.50227	2.825000	0.97269	0.655000	0.94253	TCT		0.488	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		20	51	0	0	0	0	20	51				
UBR4	23352	broad.mit.edu	37	1	19505574	19505574	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:19505574G>A	ENST00000375254.3	-	18	2352	c.2325C>T	c.(2323-2325)gaC>gaT	p.D775D	UBR4_ENST00000375217.2_Silent_p.D775D|UBR4_ENST00000375226.2_Silent_p.D775D|UBR4_ENST00000375267.2_Silent_p.D775D	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	775					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTCTGGGACGTCAGGGTCAC	0.458																																						uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(2323-2325)GAC>GAT		retinoblastoma-associated factor 600							175.0	169.0	171.0					1																	19505574		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19505574G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2325C>T	1.37:g.19505574G>A						UBR4_uc001bbm.1_Translation_Start_Site	p.D775D	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	18	2329	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	775					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.2325C>T	CCDS189.1																																																																																				0.458	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		13	170	0	0	0	0	13	170				
SH2D5	400745	broad.mit.edu	37	1	21050978	21050978	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:21050978C>T	ENST00000444387.2	-	6	938	c.541G>A	c.(541-543)Gag>Aag	p.E181K	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000375031.1_Missense_Mutation_p.E97K	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	181										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGAAGGGCTCCCGCACCAGG	0.692																																						uc001bdt.1		NA																	0					0						c.(289-291)GAG>AAG		SH2 domain containing 5 isoform 2							20.0	25.0	23.0					1																	21050978		1921	4129	6050	SO:0001583	missense	400745							g.chr1:21050978C>T	AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.541G>A	1.37:g.21050978C>T	ENSP00000406026:p.Glu181Lys					SH2D5_uc009vpy.1_Missense_Mutation_p.E181K|SH2D5_uc001bdu.1_RNA	p.E97K	NM_001103160	NP_001096630	Q6ZV89	SH2D5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	914	-		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	97					B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	ENST00000444387.2	37	c.289G>A	CCDS44080.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923645	0.73213	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	4.77	3.85	0.44370	.	0.255388	0.34507	N	0.003901	T	0.50411	0.1614	L	0.44542	1.39	0.30417	N	0.778519	P	0.49090	0.919	P	0.53062	0.717	T	0.54296	-0.8315	9	0.52906	T	0.07	.	11.0969	0.48150	0.0:0.814:0.186:0.0	.	181	Q6ZV89	SH2D5_HUMAN	K	97;181	.	ENSP00000364171:E97K	E	-	1	0	SH2D5	20923565	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.194000	0.58393	1.253000	0.44018	0.644000	0.83932	GAG		0.692	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2	XM_375698		7	15	0	0	0	0	7	15				
SFN	2810	broad.mit.edu	37	1	27190444	27190444	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:27190444G>C	ENST00000339276.4	+	1	812	c.741G>C	c.(739-741)caG>caC	p.Q247H		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGGAGCCCCAGAGCTGAGTGT	0.687																																						uc001bnc.1		NA																	0					0						c.(739-741)CAG>CAC		stratifin							20.0	23.0	22.0					1																	27190444		2202	4300	6502	SO:0001583	missense	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27190444G>C	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.741G>C	1.37:g.27190444G>C	ENSP00000340989:p.Gln247His					uc010ofi.1_RNA	p.Q247H	NM_006142	NP_006133	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	812	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	247					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000339276.4	37	c.741G>C	CCDS288.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802915	0.50315	.	.	ENSG00000175793	ENST00000339276;ENST00000538651	T	0.44083	0.93	5.6	5.6	0.85130	.	0.342804	0.28796	N	0.014120	T	0.27349	0.0671	N	0.08118	0	0.29768	N	0.834998	B	0.34147	0.438	B	0.28849	0.095	T	0.31724	-0.9933	10	0.87932	D	0	-22.0898	19.2333	0.93849	0.0:0.0:1.0:0.0	.	247	P31947	1433S_HUMAN	H	247;215	ENSP00000340989:Q247H	ENSP00000340989:Q247H	Q	+	3	2	SFN	27063031	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	3.569000	0.53827	2.648000	0.89879	0.561000	0.74099	CAG		0.687	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		7	21	0	0	0	0	7	21				
COL16A1	1307	broad.mit.edu	37	1	32134424	32134424	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:32134424C>T	ENST00000373672.3	-	50	3744	c.3228G>A	c.(3226-3228)ctG>ctA	p.L1076L	COL16A1_ENST00000271069.6_Silent_p.L1076L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1076	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGTCTCCAGTCAGGCCCGTGA	0.617																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1		NA																	0				ovary(8)	8						c.(3226-3228)CTG>CTA		alpha 1 type XVI collagen precursor							66.0	68.0	67.0					1																	32134424		1890	4099	5989	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32134424C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3228G>A	1.37:g.32134424C>T						COL16A1_uc001bti.1_5'UTR|COL16A1_uc001btj.1_Silent_p.L874L	p.L1076L	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	50	3593	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1076			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.3228G>A	CCDS41297.1																																																																																				0.617	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		22	37	0	0	0	0	22	37				
KIAA1522	57648	broad.mit.edu	37	1	33237233	33237233	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:33237233C>T	ENST00000373480.1	+	6	2379	c.2276C>T	c.(2275-2277)tCg>tTg	p.S759L	KIAA1522_ENST00000373481.3_Missense_Mutation_p.S770L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.S818L	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	759	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCGGCTGCTTCGTCCTCCTCA	0.652																																						uc001bvv.2		NA																	0					0						c.(2275-2277)TCG>TTG		hypothetical protein LOC57648							28.0	32.0	31.0					1																	33237233		1937	4124	6061	SO:0001583	missense	57648							g.chr1:33237233C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2276C>T	1.37:g.33237233C>T	ENSP00000362579:p.Ser759Leu					KIAA1522_uc001bvu.1_Missense_Mutation_p.S818L|KIAA1522_uc010ohm.1_Missense_Mutation_p.S770L|KIAA1522_uc010ohn.1_Intron	p.S759L	NM_020888	NP_065939	Q9P206	K1522_HUMAN			6	2412	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	759			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.2276C>T	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	9.894	1.205043	0.22205	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.13089	2.62;2.63;2.64	3.56	-3.44	0.04796	.	4.234900	0.00829	N	0.001645	T	0.09113	0.0225	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.29397	-1.0013	10	0.30078	T	0.28	4.9908	7.086	0.25257	0.0:0.4098:0.158:0.4322	.	770;759;818	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	L	818;770;759	ENSP00000383851:S818L;ENSP00000362580:S770L;ENSP00000362579:S759L	ENSP00000362579:S759L	S	+	2	0	KIAA1522	33009820	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.777000	0.04669	-0.767000	0.04633	-0.133000	0.14855	TCG		0.652	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			19	42	0	0	0	0	19	42				
CTPS1	1503	broad.mit.edu	37	1	41454371	41454371	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:41454371C>G	ENST00000372621.4	+	5	1052	c.544C>G	c.(544-546)Cta>Gta	p.L182V	CTPS1_ENST00000372616.1_Missense_Mutation_p.L182V|CTPS1_ENST00000541520.1_Intron|CTPS1_ENST00000543104.1_Missense_Mutation_p.L189V	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						CCACGTCAGTCTAGTTCCCCA	0.443																																						uc001cgk.3		NA																	0					0						c.(544-546)CTA>GTA		CTP synthase	L-Glutamine(DB00130)						111.0	105.0	107.0					1																	41454371		2203	4300	6503	SO:0001583	missense	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41454371C>G	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.544C>G	1.37:g.41454371C>G	ENSP00000361704:p.Leu182Val					CTPS_uc010ojo.1_Intron|CTPS_uc010ojp.1_Missense_Mutation_p.L189V|CTPS_uc001cgl.3_Missense_Mutation_p.L182V|CTPS_uc010ojq.1_Missense_Mutation_p.L26V	p.L182V	NM_001905	NP_001896	P17812	PYRG1_HUMAN			5	1052	+	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	182						Missense_Mutation	SNP	ENST00000372621.4	37	c.544C>G	CCDS459.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904150	0.52333	.	.	ENSG00000171793	ENST00000372621;ENST00000543104;ENST00000372616	T;T	0.52754	0.65;0.65	5.46	3.59	0.41128	CTP synthase, N-terminal (1);	0.063428	0.64402	N	0.000004	T	0.74222	0.3688	H	0.95884	3.735	0.80722	D	1	B;D	0.65815	0.322;0.995	B;D	0.63283	0.363;0.913	T	0.79683	-0.1701	10	0.87932	D	0	.	10.8933	0.47008	0.0:0.8461:0.0:0.1539	.	189;182	B7Z9C4;P17812	.;PYRG1_HUMAN	V	182;189;182	ENSP00000361704:L182V;ENSP00000361699:L182V	ENSP00000361699:L182V	L	+	1	2	CTPS	41226958	0.997000	0.39634	0.844000	0.33320	0.957000	0.61999	2.162000	0.42367	0.672000	0.31204	0.655000	0.94253	CTA		0.443	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		5	64	0	0	0	0	5	64				
CCDC30	728621	broad.mit.edu	37	1	43047055	43047055	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:43047055G>C	ENST00000340612.4	+	7	1090	c.1090G>C	c.(1090-1092)Gaa>Caa	p.E364Q	CCDC30_ENST00000390640.4_Missense_Mutation_p.E153Q|CCDC30_ENST00000428554.2_Missense_Mutation_p.E364Q|CCDC30_ENST00000342022.4_Missense_Mutation_p.E364Q|CCDC30_ENST00000507855.1_Missense_Mutation_p.E153Q			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	364						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GCGGAAATTAGAACATGCTCA	0.338																																						uc009vwk.1		NA																	0					0						c.(1090-1092)GAA>CAA		coiled-coil domain containing 30							89.0	92.0	91.0					1																	43047055		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43047055G>C	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1090G>C	1.37:g.43047055G>C	ENSP00000340378:p.Glu364Gln					CCDC30_uc001chm.2_Missense_Mutation_p.E62Q|CCDC30_uc001chn.2_Missense_Mutation_p.E153Q|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Missense_Mutation_p.E178Q	p.E364Q	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN			8	1200	+			364			Potential.		Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.1090G>C	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884359	0.72410	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.65	3.77	0.43336	.	0.373765	0.31246	N	0.007999	T	0.49983	0.1589	L	0.43152	1.355	0.23966	N	0.996322	P;P;D	0.63046	0.904;0.835;0.992	P;B;P	0.57720	0.55;0.369;0.826	T	0.33777	-0.9855	10	0.45353	T	0.12	.	7.1062	0.25364	0.2548:0.0:0.7452:0.0	.	364;148;153	Q5VVM6;Q6N081;Q5VVM6-2	CCD30_HUMAN;.;.	Q	364;153;364;364;153	ENSP00000397035:E364Q;ENSP00000426711:E153Q;ENSP00000340378:E364Q;ENSP00000339280:E364Q;ENSP00000375051:E153Q	ENSP00000340378:E364Q	E	+	1	0	CCDC30	42819642	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	1.992000	0.40737	1.540000	0.49301	0.650000	0.86243	GAA		0.338	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		17	71	0	0	0	0	17	71				
ZSWIM5	57643	broad.mit.edu	37	1	45485782	45485782	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:45485782C>T	ENST00000359600.5	-	13	2856	c.2651G>A	c.(2650-2652)cGc>cAc	p.R884H		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	884						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CATCTCCCTGCGTCTCCAGTT	0.552																																						uc001cnd.2		NA																	0					0						c.(2650-2652)CGC>CAC		zinc finger, SWIM domain containing 5							86.0	85.0	85.0					1																	45485782		2050	4181	6231	SO:0001583	missense	57643						zinc ion binding	g.chr1:45485782C>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2651G>A	1.37:g.45485782C>T	ENSP00000352614:p.Arg884His						p.R884H	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			13	2879	-	Acute lymphoblastic leukemia(166;0.155)		884					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.2651G>A	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724726	0.89298	.	.	ENSG00000162415	ENST00000359600	T	0.58210	0.35	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	T	0.73575	-0.3939	10	0.87932	D	0	-8.5465	18.598	0.91236	0.0:1.0:0.0:0.0	.	884	Q9P217	ZSWM5_HUMAN	H	884	ENSP00000352614:R884H	ENSP00000352614:R884H	R	-	2	0	ZSWIM5	45258369	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.420000	0.80191	2.811000	0.96726	0.555000	0.69702	CGC		0.552	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		9	25	0	0	0	0	9	25				
GBP1	2633	broad.mit.edu	37	1	89521738	89521738	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:89521738C>T	ENST00000370473.4	-	8	1548	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	443					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ACTTTTTCTTCAGGTCTTGTA	0.438																																						uc001dmx.2		NA																	0				ovary(1)|skin(1)	2						c.(1327-1329)CTG>CTA		guanylate binding protein 1,							212.0	218.0	216.0					1																	89521738		2203	4300	6503	SO:0001819	synonymous_variant	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89521738C>T	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1329G>A	1.37:g.89521738C>T							p.L443L	NM_002053	NP_002044	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	8	1549	-		Lung NSC(277;0.123)	443					D3DT26|Q5T8M1	Silent	SNP	ENST00000370473.4	37	c.1329G>A	CCDS718.1																																																																																				0.438	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		77	186	0	0	0	0	77	186				
BTBD8	284697	broad.mit.edu	37	1	92613302	92613302	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:92613302G>C	ENST00000342818.3	+	9	1317	c.1081G>C	c.(1081-1083)Gag>Cag	p.E361Q	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	361						nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TATACCTCCTGAGATTCAGAA	0.308																																						uc001doo.2		NA																	0				ovary(1)	1						c.(1081-1083)GAG>CAG		BTB (POZ) domain containing 8							107.0	111.0	110.0					1																	92613302		2202	4300	6502	SO:0001583	missense	284697					nucleus		g.chr1:92613302G>C	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.1081G>C	1.37:g.92613302G>C	ENSP00000343686:p.Glu361Gln					BTBD8_uc010otc.1_RNA	p.E361Q	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	9	1348	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	361					Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	37	c.1081G>C	CCDS737.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152639	0.57259	.	.	ENSG00000189195	ENST00000342818	T	0.66280	-0.2	5.14	5.14	0.70334	.	0.113919	0.38897	N	0.001532	T	0.58906	0.2155	L	0.49350	1.555	0.80722	D	1	D	0.60160	0.987	P	0.50352	0.638	T	0.62609	-0.6818	10	0.54805	T	0.06	-3.0827	17.7342	0.88388	0.0:0.0:1.0:0.0	.	361	Q5XKL5	BTBD8_HUMAN	Q	361	ENSP00000343686:E361Q	ENSP00000343686:E361Q	E	+	1	0	BTBD8	92385890	1.000000	0.71417	0.998000	0.56505	0.398000	0.30690	6.927000	0.75840	2.560000	0.86352	0.563000	0.77884	GAG		0.308	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		15	20	0	0	0	0	15	20				
TRMT13	54482	broad.mit.edu	37	1	100608709	100608709	+	Missense_Mutation	SNP	G	G	A	rs147022991		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:100608709G>A	ENST00000370141.2	+	8	692	c.686G>A	c.(685-687)aGa>aAa	p.R229K	TRMT13_ENST00000493651.1_3'UTR	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	229					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										GGAAAACACAGAAAGAAAAAT	0.274																																						uc001dsv.2		NA																	0				ovary(1)	1						c.(685-687)AGA>AAA		coiled-coil domain containing 76		G	LYS/ARG	1,4405		0,1,2202	86.0	84.0	84.0		686	1.9	1.0	1	dbSNP_134	84	0,8596		0,0,4298	no	missense	CCDC76	NM_019083.2	26	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	229/482	100608709	1,13001	2203	4298	6501	SO:0001583	missense	54482				tRNA processing		metal ion binding|methyltransferase activity	g.chr1:100608709G>A	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.686G>A	1.37:g.100608709G>A	ENSP00000359160:p.Arg229Lys					CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.R229K	p.R229K	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)	8	705	+		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	229					Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.686G>A	CCDS765.1	.	.	.	.	.	.	.	.	.	.	G	8.017	0.758861	0.15846	2.27E-4	0.0	ENSG00000122435	ENST00000370141	T	0.45668	0.89	5.31	1.92	0.25849	Methyltransferase TRM13 (1);	0.289031	0.43579	N	0.000547	T	0.09730	0.0239	N	0.17345	0.48	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.12156	0.004;0.007	T	0.09885	-1.0654	10	0.16420	T	0.52	-11.5333	9.0251	0.36224	0.3468:0.0:0.6532:0.0	.	215;229	B4DQS9;Q9NUP7	.;TRM13_HUMAN	K	229	ENSP00000359160:R229K	ENSP00000359160:R229K	R	+	2	0	CCDC76	100381297	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	1.944000	0.40263	0.617000	0.30160	0.650000	0.86243	AGA		0.274	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		5	25	0	0	0	0	5	25				
AP4B1	10717	broad.mit.edu	37	1	114442970	114442970	+	Missense_Mutation	SNP	G	G	A	rs138216814		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:114442970G>A	ENST00000369569.1	-	5	950	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.R56C|AP4B1_ENST00000369566.3_Missense_Mutation_p.R131C|AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000256658.4_Missense_Mutation_p.R224C	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	224					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTTGGTAGCGTAGCAGAAAG	0.428																																						uc001eeb.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(670-672)CGC>TGC		adaptor-related protein complex 4, beta 1		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	74.0	77.0		670	5.2	1.0	1	dbSNP_134	77	0,8600		0,0,4300	no	missense	AP4B1	NM_006594.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	224/740	114442970	1,13005	2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442970G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.670C>T	1.37:g.114442970G>A	ENSP00000358582:p.Arg224Cys					uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.R56C|AP4B1_uc001eed.2_Missense_Mutation_p.R224C|AP4B1_uc010owp.1_Missense_Mutation_p.R125C|AP4B1_uc001eea.1_Missense_Mutation_p.R18C|AP4B1_uc010owq.1_Missense_Mutation_p.R131C	p.R224C	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	813	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	224					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.670C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957087	0.92726	2.27E-4	0.0	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415;ENST00000369571	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;2.6;1.63;1.63;1.63	5.2	5.2	0.72013	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.052788	0.85682	D	0.000000	T	0.55289	0.1911	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.993;0.995;0.998;0.99	T	0.62110	-0.6923	10	0.87932	D	0	.	19.099	0.93266	0.0:0.0:1.0:0.0	.	131;56;224;125	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	C	56;224;224;131;149;56;224	ENSP00000358580:R56C;ENSP00000358582:R224C;ENSP00000256658:R224C;ENSP00000358579:R131C;ENSP00000358577:R149C;ENSP00000393622:R56C;ENSP00000358584:R224C	ENSP00000256658:R224C	R	-	1	0	AP4B1	114244493	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	9.516000	0.98017	2.579000	0.87056	0.561000	0.74099	CGC		0.428	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		14	39	0	0	0	0	14	39				
DENND2C	163259	broad.mit.edu	37	1	115153710	115153710	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:115153710G>C	ENST00000393274.1	-	9	1978	c.1353C>G	c.(1351-1353)gcC>gcG	p.A451A	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Silent_p.A451A|DENND2C_ENST00000393276.3_Silent_p.A394A	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	451					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGATACTCGGCATCACTTT	0.458																																						uc001efd.1		NA																	0				skin(3)	3						c.(1351-1353)GCC>GCG		DENN/MADD domain containing 2C							286.0	216.0	240.0					1																	115153710		2203	4300	6503	SO:0001819	synonymous_variant	163259							g.chr1:115153710G>C		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1353C>G	1.37:g.115153710G>C						DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Silent_p.A394A	p.A451A	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	2055	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	451					B1AL26|Q5TCX6|Q6P3R3	Silent	SNP	ENST00000393274.1	37	c.1353C>G	CCDS58018.1																																																																																				0.458	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		5	75	0	0	0	0	5	75				
ACP6	51205	broad.mit.edu	37	1	147131131	147131131	+	Missense_Mutation	SNP	C	C	T	rs377700485		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:147131131C>T	ENST00000369238.6	-	4	950	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	ACP6_ENST00000392988.2_Missense_Mutation_p.R168Q	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	168	Substrate binding. {ECO:0000250}.				dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					CTCCAGATTCCGAAAAATGTT	0.413																																						uc001epr.2		NA																	0				ovary(4)	4						c.(502-504)CGG>CAG		acid phosphatase 6, lysophosphatidic precursor		C	GLN/ARG	0,4406		0,0,2203	105.0	109.0	108.0		503	5.5	1.0	1		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACP6	NM_016361.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	168/429	147131131	1,13005	2203	4300	6503	SO:0001583	missense	51205				lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	g.chr1:147131131C>T	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.503G>A	1.37:g.147131131C>T	ENSP00000358241:p.Arg168Gln					ACP6_uc009wjj.1_Missense_Mutation_p.R125Q	p.R168Q	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN			4	967	-	all_hematologic(923;0.0276)		168					Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Missense_Mutation	SNP	ENST00000369238.6	37	c.503G>A	CCDS928.1	.	.	.	.	.	.	.	.	.	.	C	35	5.543538	0.96474	0.0	1.16E-4	ENSG00000162836	ENST00000369238;ENST00000392988	D;D	0.82344	-1.6;-1.6	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.93012	0.7776	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94146	0.7401	10	0.87932	D	0	.	19.4413	0.94821	0.0:1.0:0.0:0.0	.	168;168	Q9NPH0-2;Q9NPH0	.;PPA6_HUMAN	Q	168	ENSP00000358241:R168Q;ENSP00000376714:R168Q	ENSP00000358241:R168Q	R	-	2	0	ACP6	145597755	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.609000	0.74173	2.577000	0.86979	0.655000	0.94253	CGG		0.413	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		33	76	0	0	0	0	33	76				
MTMR11	10903	broad.mit.edu	37	1	149905304	149905305	+	Missense_Mutation	DNP	AG	AG	TT			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:149905304_149905305AG>TT	ENST00000439741.2	-	10	1229_1230	c.979_980CT>AA	c.(979-981)CTg>AAg	p.L327K	MTMR11_ENST00000406732.3_Missense_Mutation_p.L299K|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.L255K|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	327	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTCACCAGGCAGGCAGAGGGCC	0.559																																						uc001etl.3		NA																	0				central_nervous_system(1)	1						c.(979-981)CTG>AAG		myotubularin related protein 11 isoform a																																				SO:0001583	missense	10903						phosphatase activity	g.chr1:149905304_149905305AG>TT	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.979_980delinsTT	1.37:g.149905304_149905305delinsTT	ENSP00000391668:p.Leu327Lys					MTMR11_uc001etm.1_Missense_Mutation_p.L255K|MTMR11_uc010pbm.1_Missense_Mutation_p.L299K|MTMR11_uc010pbn.1_Missense_Mutation_p.L169K	p.L327K	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		10	1230_1231	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		327			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	DNP	ENST00000439741.2	37	c.979_980CT>AA	CCDS53360.1																																																																																				0.559	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		36	101	0	0	0	0	36	101				
FLG	2312	broad.mit.edu	37	1	152282919	152282919	+	Silent	SNP	T	T	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:152282919T>C	ENST00000368799.1	-	3	4478	c.4443A>G	c.(4441-4443)gcA>gcG	p.A1481A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1481	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTCTTGGGATGCTGAGTGCC	0.567									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(4441-4443)GCA>GCG		filaggrin							365.0	350.0	355.0					1																	152282919		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282919T>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4443A>G	1.37:g.152282919T>C							p.A1481A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4479	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1481			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.4443A>G	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		16	356	0	0	0	0	16	356				
FLG	2312	broad.mit.edu	37	1	152282956	152282956	+	Missense_Mutation	SNP	C	C	T	rs145675213	byFrequency	TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:152282956C>T	ENST00000368799.1	-	3	4441	c.4406G>A	c.(4405-4407)cGc>cAc	p.R1469H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1469	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCATGGCGGGATCCTTG	0.577									Ichthyosis				C|||	5	0.000998403	0.0	0.0	5008	,	,		21330	0.005		0.0	False		,,,				2504	0.0					uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(4405-4407)CGC>CAC		filaggrin		C	HIS/ARG	0,4406		0,0,2203	279.0	268.0	272.0		4406	-6.7	0.0	1	dbSNP_134	272	3,8597	3.0+/-9.4	0,3,4297	yes	missense	FLG	NM_002016.1	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	1469/4062	152282956	3,13003	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282956C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4406G>A	1.37:g.152282956C>T	ENSP00000357789:p.Arg1469His					uc001ezv.2_5'Flank	p.R1469H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4442	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1469			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4406G>A	CCDS30860.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	7.952	0.745096	0.15710	0.0	3.49E-4	ENSG00000143631	ENST00000368799	T	0.01705	4.68	3.61	-6.72	0.01755	.	.	.	.	.	T	0.00210	0.0006	N	0.03194	-0.395	0.09310	N	1	B	0.30709	0.291	B	0.16289	0.015	T	0.47774	-0.9091	9	0.26408	T	0.33	.	2.1233	0.03731	0.125:0.1932:0.4011:0.2807	.	1469	P20930	FILA_HUMAN	H	1469	ENSP00000357789:R1469H	ENSP00000357789:R1469H	R	-	2	0	FLG	150549580	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-4.516000	0.00222	-1.635000	0.01535	-0.265000	0.10407	CGC		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		24	255	0	0	0	0	24	255				
UBE2Q1	55585	broad.mit.edu	37	1	154523963	154523963	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:154523963C>G	ENST00000292211.4	-	11	1159	c.1080G>C	c.(1078-1080)tgG>tgC	p.W360C	UBE2Q1_ENST00000497453.1_5'Flank|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	360					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGGCACTGCTCCAGCCCTGGG	0.537																																						uc001fff.1		NA																	0					0						c.(1078-1080)TGG>TGC		ubiquitin-conjugating enzyme E2Q							127.0	110.0	116.0					1																	154523963		2203	4300	6503	SO:0001583	missense	55585						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:154523963C>G	AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1080G>C	1.37:g.154523963C>G	ENSP00000292211:p.Trp360Cys						p.W360C	NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		11	1171	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		360					B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	ENST00000292211.4	37	c.1080G>C	CCDS1069.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338424	0.81911	.	.	ENSG00000160714	ENST00000292211	T	0.72615	-0.67	5.3	5.3	0.74995	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.89480	0.6727	H	0.98027	4.13	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.92750	0.6215	10	0.87932	D	0	-8.0344	17.7118	0.88324	0.0:1.0:0.0:0.0	.	360	Q7Z7E8	UB2Q1_HUMAN	C	360	ENSP00000292211:W360C	ENSP00000292211:W360C	W	-	3	0	UBE2Q1	152790587	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.461000	0.80834	2.763000	0.94921	0.561000	0.74099	TGG		0.537	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582		42	65	0	0	0	0	42	65				
KIAA0907	22889	broad.mit.edu	37	1	155887369	155887369	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:155887369G>C	ENST00000368321.3	-	11	1384	c.1361C>G	c.(1360-1362)cCa>cGa	p.P454R	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.P454R	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	454	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GGGCTGACTTGGGAGTGgggg	0.562																																						uc001fmi.1		NA																	0					0						c.(1360-1362)CCA>CGA		hypothetical protein LOC22889							54.0	61.0	58.0					1																	155887369		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155887369G>C	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1361C>G	1.37:g.155887369G>C	ENSP00000357304:p.Pro454Arg					KIAA0907_uc001fmj.1_Missense_Mutation_p.P454R|KIAA0907_uc009wrk.1_Missense_Mutation_p.P311R|KIAA0907_uc009wrl.1_RNA	p.P454R	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1385	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		454			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1361C>G	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477358	0.44044	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.30448	1.53;1.53	5.87	4.95	0.65309	.	0.523323	0.21020	N	0.081523	T	0.09379	0.0231	N	0.14661	0.345	0.80722	D	1	B;B	0.28324	0.207;0.067	B;B	0.24006	0.05;0.05	T	0.07065	-1.0792	10	0.59425	D	0.04	-0.8923	12.2978	0.54859	0.0:0.0:0.6923:0.3077	.	454;454	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	R	454	ENSP00000357304:P454R;ENSP00000357303:P454R	ENSP00000357303:P454R	P	-	2	0	KIAA0907	154153993	0.996000	0.38824	0.972000	0.41901	0.996000	0.88848	2.073000	0.41519	1.602000	0.50124	0.655000	0.94253	CCA		0.562	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		25	41	0	0	0	0	25	41				
OR10X1	128367	broad.mit.edu	37	1	158548948	158548948	+	Missense_Mutation	SNP	C	C	T	rs376239592		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:158548948C>T	ENST00000368150.1	-	1	741	c.742G>A	c.(742-744)Gag>Aag	p.E248K		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	248						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(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGCTTGCCCTCAGCTGAAGGG	0.473																																						uc010pin.1		NA																	0				ovary(1)	1						c.(742-744)GAG>AAG		olfactory receptor, family 10, subfamily X,		C	LYS/GLU	0,4406		0,0,2203	134.0	133.0	133.0		742	1.9	0.9	1		133	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10X1	NM_001004477.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	248/327	158548948	1,13005	2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548948C>T	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.742G>A	1.37:g.158548948C>T	ENSP00000357132:p.Glu248Lys						p.E248K	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	742	-	all_hematologic(112;0.0378)		248			Cytoplasmic (Potential).		Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.742G>A	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	C	7.401	0.632740	0.14322	0.0	1.16E-4	ENSG00000186400	ENST00000368150	T	0.00174	8.62	4.8	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.420075	0.20149	N	0.098203	T	0.00039	0.0001	N	0.26092	0.79	0.21697	N	0.999589	B	0.18968	0.032	B	0.26310	0.068	T	0.42582	-0.9443	10	0.46703	T	0.11	.	3.092	0.06297	0.1429:0.5553:0.139:0.1627	.	248	Q8NGY0	O10X1_HUMAN	K	248	ENSP00000357132:E248K	ENSP00000357132:E248K	E	-	1	0	OR10X1	156815572	0.001000	0.12720	0.923000	0.36655	0.144000	0.21451	0.325000	0.19628	0.213000	0.20722	-0.253000	0.11424	GAG		0.473	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		41	81	0	0	0	0	41	81				
ATP1A4	480	broad.mit.edu	37	1	160156138	160156138	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:160156138C>T	ENST00000368081.4	+	21	3513	c.3042C>T	c.(3040-3042)ctC>ctT	p.L1014L	ATP1A4_ENST00000470705.1_Silent_p.L150L	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	1014				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228). {ECO:0000305}.	ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAAAACTCCTCATCCGTCAGC	0.562																																						uc001fve.3		NA																	0				ovary(2)|skin(2)	4						c.(3040-3042)CTC>CTT		Na+/K+ -ATPase alpha 4 subunit isoform 1							191.0	194.0	193.0					1																	160156138		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160156138C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.3042C>T	1.37:g.160156138C>T						ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Silent_p.L517L|ATP1A4_uc001fvh.2_Silent_p.L150L	p.L1014L	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		21	3521	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		1014	ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).		Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.3042C>T	CCDS1197.1																																																																																				0.562	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		38	123	0	0	0	0	38	123				
COPA	1314	broad.mit.edu	37	1	160275281	160275281	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:160275281C>T	ENST00000241704.7	-	17	1838	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	COPA_ENST00000368069.3_Missense_Mutation_p.E546K	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	537					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCCCACTCTCATCCCAGGCC	0.438																																						uc009wti.2		NA																	0				ovary(1)|skin(1)	2						c.(1609-1611)GAG>AAG		coatomer protein complex, subunit alpha isoform							123.0	120.0	121.0					1																	160275281		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160275281C>T	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1609G>A	1.37:g.160275281C>T	ENSP00000241704:p.Glu537Lys					COPA_uc001fvv.3_Missense_Mutation_p.E546K|COPA_uc009wtj.1_Missense_Mutation_p.E483K	p.E537K	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		17	2003	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		537					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.1609G>A	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697167	0.88830	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.62941	2.6;-0.01	5.64	5.64	0.86602	Coatomer, WD associated region (1);	0.106801	0.64402	D	0.000002	T	0.70885	0.3275	M	0.79475	2.455	0.80722	D	1	B;B	0.30361	0.277;0.141	P;B	0.47705	0.555;0.272	T	0.72097	-0.4393	10	0.87932	D	0	-27.2335	16.5532	0.84477	0.0:1.0:0.0:0.0	.	537;546	P53621;P53621-2	COPA_HUMAN;.	K	546;537	ENSP00000357048:E546K;ENSP00000241704:E537K	ENSP00000241704:E537K	E	-	1	0	COPA	158541905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.231000	0.78106	2.937000	0.99478	0.650000	0.86243	GAG		0.438	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		7	124	0	0	0	0	7	124				
NPHS2	7827	broad.mit.edu	37	1	179533893	179533893	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:179533893G>T	ENST00000367615.4	-	2	378	c.310C>A	c.(310-312)Ctt>Att	p.L104I	NPHS2_ENST00000367616.4_Missense_Mutation_p.L104I	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	104					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						AGGACAAGAAGCCACTCACAG	0.398																																						uc001gmq.3		NA																	0					0						c.(310-312)CTT>ATT		podocin							71.0	74.0	73.0					1																	179533893		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179533893G>T	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.310C>A	1.37:g.179533893G>T	ENSP00000356587:p.Leu104Ile					NPHS2_uc009wxi.2_Missense_Mutation_p.L104I	p.L104I	NM_014625	NP_055440	Q9NP85	PODO_HUMAN			2	395	-			104					B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.310C>A	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	G	7.365	0.625728	0.14257	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99656	-6.31;-6.31	5.46	3.53	0.40419	.	0.065969	0.64402	D	0.000007	D	0.96605	0.8892	N	0.11201	0.11	0.80722	D	1	B;B	0.25563	0.129;0.017	B;B	0.27715	0.082;0.011	D	0.95655	0.8710	10	0.07325	T	0.83	-14.5549	8.6438	0.33994	0.0798:0.0:0.7667:0.1535	.	104;104	Q9NP85-2;Q9NP85	.;PODO_HUMAN	I	104	ENSP00000356587:L104I;ENSP00000356588:L104I	ENSP00000356587:L104I	L	-	1	0	NPHS2	177800516	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	1.629000	0.37071	1.252000	0.44001	0.561000	0.74099	CTT		0.398	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			13	28	1	0	6.32e-08	8.62e-08	13	28				
CEP350	9857	broad.mit.edu	37	1	180012229	180012229	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:180012229C>T	ENST00000367607.3	+	20	4819	c.4401C>T	c.(4399-4401)gtC>gtT	p.V1467V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1467					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGATGCTGTCGTGGCTTCAG	0.448																																						uc001gnt.2		NA																	0				ovary(4)	4						c.(4399-4401)GTC>GTT		centrosome-associated protein 350							190.0	177.0	181.0					1																	180012229		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180012229C>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4401C>T	1.37:g.180012229C>T						CEP350_uc009wxl.2_Silent_p.V1466V	p.V1467V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			20	4784	+			1467					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.4401C>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	0.930	-0.712940	0.03206	.	.	ENSG00000135837	ENST00000418229	.	.	.	5.9	1.91	0.25777	.	.	.	.	.	T	0.34629	0.0904	.	.	.	0.21256	N	0.999749	.	.	.	.	.	.	T	0.23013	-1.0200	4	.	.	.	.	8.3957	0.32555	0.0:0.6859:0.0:0.3141	.	.	.	.	C	76	.	.	R	+	1	0	CEP350	178278852	0.935000	0.31712	0.033000	0.17914	0.126000	0.20510	-0.005000	0.12855	0.095000	0.17434	0.561000	0.74099	CGT		0.448	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		41	87	0	0	0	0	41	87				
XPR1	9213	broad.mit.edu	37	1	180601389	180601389	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:180601389C>G	ENST00000367590.4	+	1	250	c.52C>G	c.(52-54)Caa>Gaa	p.Q18E	XPR1_ENST00000367589.3_Missense_Mutation_p.Q18E	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	18	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GTGGAGGAAGCAATACATCCA	0.647																																						uc001goi.2		NA																	0					0						c.(52-54)CAA>GAA		xenotropic and polytropic retrovirus receptor							62.0	51.0	55.0					1																	180601389		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180601389C>G	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.52C>G	1.37:g.180601389C>G	ENSP00000356562:p.Gln18Glu					XPR1_uc009wxm.2_Missense_Mutation_p.Q18E|XPR1_uc009wxn.2_Missense_Mutation_p.Q18E	p.Q18E	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			1	244	+			18			SPX.|Cytoplasmic (Potential).		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.52C>G	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003563	0.74932	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.44881	0.91	4.95	4.95	0.65309	SPX, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.62380	0.2423	M	0.66506	2.035	0.80722	D	1	D;P	0.69078	0.997;0.883	D;P	0.65684	0.937;0.745	T	0.66602	-0.5882	10	0.87932	D	0	-5.7025	17.3302	0.87261	0.0:1.0:0.0:0.0	.	18;18	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	E	18	ENSP00000356562:Q18E	ENSP00000356561:Q18E	Q	+	1	0	XPR1	178868012	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.703000	0.68340	2.438000	0.82558	0.462000	0.41574	CAA		0.647	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		5	4	0	0	0	0	5	4				
NUAK2	81788	broad.mit.edu	37	1	205290541	205290541	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:205290541C>G	ENST00000367157.3	-	1	342	c.216G>C	c.(214-216)gaG>gaC	p.E72D		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCCCCGAGCTCTCCCGCGCCT	0.731																																						uc001hce.2		NA																	0				ovary(3)|stomach(1)|breast(1)	5						c.(214-216)GAG>GAC		NUAK family, SNF1-like kinase, 2							37.0	38.0	37.0					1																	205290541		2203	4300	6503	SO:0001583	missense	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205290541C>G	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.216G>C	1.37:g.205290541C>G	ENSP00000356125:p.Glu72Asp						p.E72D	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		1	343	-	Breast(84;0.186)		72			Protein kinase.			Missense_Mutation	SNP	ENST00000367157.3	37	c.216G>C	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431717	0.62844	.	.	ENSG00000163545	ENST00000367157	T	0.64991	-0.13	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39909	N	0.001231	T	0.38374	0.1038	N	0.02169	-0.655	0.40247	D	0.978024	B	0.21821	0.061	B	0.27887	0.084	T	0.38824	-0.9643	10	0.39692	T	0.17	.	13.9912	0.64367	0.1515:0.8485:0.0:0.0	.	72	Q9H093	NUAK2_HUMAN	D	72	ENSP00000356125:E72D	ENSP00000356125:E72D	E	-	3	2	NUAK2	203557164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.823000	0.39062	2.602000	0.87976	0.561000	0.74099	GAG		0.731	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		19	40	0	0	0	0	19	40				
FAIM3	9214	broad.mit.edu	37	1	207085264	207085264	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:207085264G>A	ENST00000367091.3	-	4	664	c.521C>T	c.(520-522)cCa>cTa	p.P174L	FAIM3_ENST00000420007.2_Missense_Mutation_p.P174L|FAIM3_ENST00000442471.2_Missense_Mutation_p.P62L|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	174					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GTGGTGAACTGGAGGGACCTT	0.542											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hey.2		NA																	0				central_nervous_system(1)	1						c.(520-522)CCA>CTA		Fas apoptotic inhibitory molecule 3 isoform a							147.0	150.0	149.0					1																	207085264		2203	4300	6503	SO:0001583	missense	9214				anti-apoptosis|cellular defense response	integral to membrane		g.chr1:207085264G>A	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.521C>T	1.37:g.207085264G>A	ENSP00000356058:p.Pro174Leu		OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2164	FAIM3_uc010prz.1_Missense_Mutation_p.P62L|FAIM3_uc010psa.1_Missense_Mutation_p.P83L|FAIM3_uc010psb.1_Missense_Mutation_p.P174L	p.P174L	NM_005449	NP_005440	O60667	FAIM3_HUMAN			4	700	-	Breast(84;0.201)		174			Extracellular (Potential).		A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	37	c.521C>T	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495720	0.26774	.	.	ENSG00000162894	ENST00000367091;ENST00000442471;ENST00000420007	T;T	0.64085	0.32;-0.08	4.33	-0.185	0.13276	.	0.591550	0.15238	N	0.273042	T	0.43634	0.1256	L	0.44542	1.39	0.09310	N	1	B;B;B	0.24721	0.011;0.004;0.11	B;B;B	0.19148	0.007;0.004;0.024	T	0.29088	-1.0023	10	0.42905	T	0.14	-0.0204	0.8208	0.01111	0.2176:0.1731:0.4071:0.2022	.	83;62;174	B7Z497;B7Z6Z0;O60667	.;.;FAIM3_HUMAN	L	174;62;174	ENSP00000356058:P174L;ENSP00000403356:P174L	ENSP00000356058:P174L	P	-	2	0	FAIM3	205151887	0.001000	0.12720	0.003000	0.11579	0.051000	0.14879	0.123000	0.15708	0.115000	0.18071	0.655000	0.94253	CCA		0.542	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		14	25	0	0	0	0	14	25				
PLXNA2	5362	broad.mit.edu	37	1	208257734	208257734	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:208257734C>T	ENST00000367033.3	-	10	3046	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	763					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCGAGCTGTTCTGACACTGAA	0.627																																						uc001hgz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2287-2289)CAG>CAA		plexin A2 precursor							52.0	57.0	55.0					1																	208257734		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208257734C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2289G>A	1.37:g.208257734C>T							p.Q763Q	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	10	3047	-			763			Extracellular (Potential).		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.2289G>A	CCDS31013.1																																																																																				0.627	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		19	42	0	0	0	0	19	42				
RRP15	51018	broad.mit.edu	37	1	218504373	218504373	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:218504373C>A	ENST00000366932.3	+	5	819	c.789C>A	c.(787-789)gaC>gaA	p.D263E		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	263						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AAGACTGGGACAAGGAAAGTG	0.408																																						uc001hlj.2		NA																	0					0						c.(787-789)GAC>GAA		ribosomal RNA processing 15 homolog							80.0	73.0	75.0					1																	218504373		2203	4300	6503	SO:0001583	missense	51018					mitochondrion|nucleolus	protein binding	g.chr1:218504373C>A		CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"""KIAA0507"""	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.789C>A	1.37:g.218504373C>A	ENSP00000355899:p.Asp263Glu					RRP15_uc001hlk.2_RNA	p.D263E	NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN		all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)	5	819	+			263						Missense_Mutation	SNP	ENST00000366932.3	37	c.789C>A	CCDS1520.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477192	0.84640	.	.	ENSG00000067533	ENST00000366932	T	0.55052	0.54	5.98	3.08	0.35506	.	0.000000	0.85682	D	0.000000	T	0.65873	0.2733	M	0.82323	2.585	0.42169	D	0.991634	D	0.69078	0.997	P	0.60886	0.88	T	0.67872	-0.5558	10	0.52906	T	0.07	.	6.4785	0.22049	0.0:0.6699:0.0:0.3301	.	263	Q9Y3B9	RRP15_HUMAN	E	263	ENSP00000355899:D263E	ENSP00000355899:D263E	D	+	3	2	RRP15	216570996	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.500000	0.22562	1.531000	0.49152	0.655000	0.94253	GAC		0.408	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095284.1	NM_016052		8	18	1	0	1.13e-05	1.52e-05	8	18				
FMN2	56776	broad.mit.edu	37	1	240370980	240370980	+	Silent	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:240370980G>T	ENST00000319653.9	+	5	3098	c.2868G>T	c.(2866-2868)ccG>ccT	p.P956P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	956	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1099P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCCCTCCGCCCCCTCTTC	0.697																																						uc010pyd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2866-2868)CCG>CCT		formin 2							20.0	24.0	23.0					1																	240370980		2203	4296	6499	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370980G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2868G>T	1.37:g.240370980G>T						FMN2_uc010pye.1_Silent_p.P960P	p.P956P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3093	+	Ovarian(103;0.127)	all_cancers(173;0.013)	956			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2868G>T	CCDS31069.2																																																																																				0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		21	19	1	0	2.28e-05	3.06e-05	21	19				
OR2T11	127077	broad.mit.edu	37	1	248789544	248789544	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:248789544C>T	ENST00000330803.2	-	1	947	c.886G>A	c.(886-888)Ggg>Agg	p.G296R		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTAAATGCCCCTATGACGTCC	0.473																																						uc001ier.1		NA																	0				lung(1)	1						c.(886-888)GGG>AGG		olfactory receptor, family 2, subfamily T,							105.0	109.0	108.0					1																	248789544		2061	4239	6300	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789544C>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.886G>A	1.37:g.248789544C>T	ENSP00000328934:p.Gly296Arg						p.G296R	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	886	-	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)		296			Cytoplasmic (Potential).		Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.886G>A	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	7.711	0.695157	0.15039	.	.	ENSG00000183130	ENST00000330803	T	0.34472	1.36	4.48	4.48	0.54585	.	0.167404	0.28393	N	0.015502	T	0.12305	0.0299	N	0.00788	-1.185	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.14062	-1.0486	10	0.34782	T	0.22	.	9.8019	0.40770	0.0:0.9038:0.0:0.0962	.	296	Q8NH01	O2T11_HUMAN	R	296	ENSP00000328934:G296R	ENSP00000328934:G296R	G	-	1	0	OR2T11	246856167	0.000000	0.05858	0.075000	0.20258	0.006000	0.05464	0.411000	0.21115	2.278000	0.76064	0.655000	0.94253	GGG		0.473	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		24	58	0	0	0	0	24	58				
OR2T27	403239	broad.mit.edu	37	1	248813997	248813997	+	Silent	SNP	G	G	A	rs567610961		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:248813997G>A	ENST00000344889.3	-	1	188	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAGCTGGCTGAGCAGGAAGT	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		16987	0.001		0.0	False		,,,				2504	0.0					uc010pzo.1		NA																	0				skin(1)	1						c.(187-189)CTC>CTT		olfactory receptor, family 2, subfamily T,							38.0	34.0	35.0					1																	248813997		2202	4278	6480	SO:0001819	synonymous_variant	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813997G>A		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.189C>T	1.37:g.248813997G>A							p.L63L	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	189	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	63			Helical; Name=2; (Potential).			Silent	SNP	ENST00000344889.3	37	c.189C>T	CCDS31124.1																																																																																				0.517	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		6	46	0	0	0	0	6	46				
GTPBP4	23560	broad.mit.edu	37	10	1045024	1045024	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:1045024C>G	ENST00000360803.4	+	6	725	c.643C>G	c.(643-645)Cta>Gta	p.L215V	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Missense_Mutation_p.L99V|GTPBP4_ENST00000545048.1_Missense_Mutation_p.L168V	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	215	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TTATAAGTATCTACGTTGGCA	0.438																																						uc001ift.2		NA																	0				ovary(1)|skin(1)	2						c.(643-645)CTA>GTA		G protein-binding protein CRFG							205.0	164.0	178.0					10																	1045024		2203	4300	6503	SO:0001583	missense	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1045024C>G	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.643C>G	10.37:g.1045024C>G	ENSP00000354040:p.Leu215Val					GTPBP4_uc010qac.1_Missense_Mutation_p.L6V|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.L99V|GTPBP4_uc010qae.1_Missense_Mutation_p.L168V	p.L215V	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	6	714	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	215					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.643C>G	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499463	0.64298	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.34275	1.39;1.37;1.39	5.58	2.1	0.27182	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	L	0.54323	1.7	0.80722	D	1	D	0.56968	0.978	P	0.52672	0.706	T	0.44221	-0.9342	10	0.72032	D	0.01	-17.0169	11.7713	0.51960	0.0:0.7633:0.0:0.2367	.	215	Q9BZE4	NOG1_HUMAN	V	215;99;168	ENSP00000354040:L215V;ENSP00000444277:L99V;ENSP00000445473:L168V	ENSP00000354040:L215V	L	+	1	2	GTPBP4	1035024	0.998000	0.40836	0.998000	0.56505	0.863000	0.49368	2.010000	0.40913	0.655000	0.30866	-0.378000	0.06908	CTA		0.438	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		13	28	0	0	0	0	13	28				
CUBN	8029	broad.mit.edu	37	10	16957859	16957859	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:16957859C>G	ENST00000377833.4	-	46	7236	c.7171G>C	c.(7171-7173)Gaa>Caa	p.E2391Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2391	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGTCTTTTTCACAGCCAGAA	0.413																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(7171-7173)GAA>CAA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						76.0	77.0	76.0					10																	16957859		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16957859C>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7171G>C	10.37:g.16957859C>G	ENSP00000367064:p.Glu2391Gln						p.E2391Q	NM_001081	NP_001072	O60494	CUBN_HUMAN			46	7223	-			2391			CUB 17.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7171G>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941546	0.34283	.	.	ENSG00000107611	ENST00000377833	T	0.28255	1.62	5.79	2.91	0.33838	CUB (5);	0.609570	0.14586	N	0.310553	T	0.28566	0.0707	L	0.48935	1.535	0.09310	N	0.999999	P	0.48407	0.91	P	0.48524	0.58	T	0.07751	-1.0756	10	0.15066	T	0.55	.	5.8523	0.18699	0.1258:0.6062:0.0:0.268	.	2391	O60494	CUBN_HUMAN	Q	2391	ENSP00000367064:E2391Q	ENSP00000367064:E2391Q	E	-	1	0	CUBN	16997865	0.642000	0.27260	0.991000	0.47740	0.808000	0.45660	-0.113000	0.10774	0.794000	0.33899	0.644000	0.83932	GAA		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		18	39	0	0	0	0	18	39				
KIAA1217	56243	broad.mit.edu	37	10	24669819	24669819	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:24669819C>T	ENST00000376454.3	+	3	406	c.376C>T	c.(376-378)Cac>Tac	p.H126Y	KIAA1217_ENST00000376462.1_Missense_Mutation_p.H46Y|KIAA1217_ENST00000376452.3_Missense_Mutation_p.H126Y|KIAA1217_ENST00000458595.1_Missense_Mutation_p.H126Y|KIAA1217_ENST00000430453.2_Missense_Mutation_p.H47Y	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	126					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAAACTGTCTCACAGTCCTCA	0.468																																						uc001iru.3		NA																	0				ovary(5)|skin(2)	7						c.(376-378)CAC>TAC		sickle tail isoform 1							70.0	75.0	73.0					10																	24669819		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24669819C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.376C>T	10.37:g.24669819C>T	ENSP00000365637:p.His126Tyr					KIAA1217_uc001irs.2_Missense_Mutation_p.H46Y|KIAA1217_uc001irt.3_Missense_Mutation_p.H126Y|KIAA1217_uc010qcy.1_Missense_Mutation_p.H126Y|KIAA1217_uc010qcz.1_Missense_Mutation_p.H126Y|KIAA1217_uc001irv.1_5'UTR|KIAA1217_uc010qda.1_RNA	p.H126Y	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			3	779	+			126					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.376C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.185934	0.38609	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000430453	T;D;T;T;T;T	0.94687	1.52;-3.49;1.52;1.92;1.52;0.94	5.54	5.54	0.83059	.	0.366652	0.28409	N	0.015449	D	0.92916	0.7746	L	0.50333	1.59	0.27391	N	0.955134	P;D;P;P	0.55172	0.898;0.97;0.898;0.826	B;P;B;B	0.46585	0.354;0.521;0.434;0.134	D	0.88736	0.3240	10	0.45353	T	0.12	.	12.7679	0.57403	0.0:0.9251:0.0:0.0749	.	126;126;126;126	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	Y	46;126;126;126;126;47	ENSP00000365645:H46Y;ENSP00000365639:H126Y;ENSP00000392625:H126Y;ENSP00000365637:H126Y;ENSP00000365635:H126Y;ENSP00000389680:H47Y	ENSP00000365635:H126Y	H	+	1	0	KIAA1217	24709825	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.526000	0.45607	2.616000	0.88540	0.591000	0.81541	CAC		0.468	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		17	45	0	0	0	0	17	45				
BAMBI	25805	broad.mit.edu	37	10	28971090	28971090	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:28971090G>C	ENST00000375533.3	+	3	1099	c.543G>C	c.(541-543)aaG>aaC	p.K181N		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	181					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						GTGAAAATAAGAGGCTGCAGG	0.507																																						uc001iuj.1		NA																	0				central_nervous_system(4)	4						c.(541-543)AAG>AAC		BMP and activin membrane-bound inhibitor							111.0	99.0	103.0					10																	28971090		2203	4300	6503	SO:0001583	missense	25805				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	g.chr10:28971090G>C	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"""BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"""			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.543G>C	10.37:g.28971090G>C	ENSP00000364683:p.Lys181Asn					BAMBI_uc001iui.2_3'UTR	p.K181N	NM_012342	NP_036474	Q13145	BAMBI_HUMAN			3	946	+			181			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000375533.3	37	c.543G>C	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439659	0.63067	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.86	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	L	0.50333	1.59	0.58432	D	0.999995	D	0.57899	0.981	P	0.49637	0.617	T	0.54296	-0.8315	9	0.54805	T	0.06	.	10.5895	0.45302	0.1427:0.0:0.8573:0.0	.	181	Q13145	BAMBI_HUMAN	N	181;168	.	ENSP00000364683:K181N	K	+	3	2	BAMBI	29011096	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.668000	0.46816	2.778000	0.95560	0.655000	0.94253	AAG		0.507	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		18	46	0	0	0	0	18	46				
PCDH15	65217	broad.mit.edu	37	10	55582664	55582664	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:55582664C>T	ENST00000320301.6	-	33	5216	c.4822G>A	c.(4822-4824)Gaa>Aaa	p.E1608K	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1605K|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1610K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1585K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1539K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1568K|PCDH15_ENST00000409834.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1608					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)				TTTTCATTTTCAGCTTTCTGC	0.443										HNSCC(58;0.16)																												uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4822-4824)GAA>AAA		protocadherin 15 isoform CD1-4 precursor							171.0	164.0	166.0					10																	55582664		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582664C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4822G>A	10.37:g.55582664C>T	ENSP00000322604:p.Glu1608Lys	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.E1605K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1568K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1539K|PCDH15_uc010qhy.1_Missense_Mutation_p.E1615K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1610K|PCDH15_uc010qia.1_Missense_Mutation_p.E1588K|PCDH15_uc010qib.1_Missense_Mutation_p.E1585K	p.E1608K	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5217	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1608			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4822G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227874	0.39399	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.60171	0.25;0.21;0.27;0.21;0.21;0.22	5.33	2.48	0.30137	.	.	.	.	.	T	0.49150	0.1540	L	0.48642	1.525	0.09310	N	1	B;B;B;B;B;B;B;B	0.29571	0.073;0.249;0.059;0.059;0.129;0.249;0.073;0.249	B;B;B;B;B;B;B;B	0.25884	0.043;0.064;0.016;0.016;0.064;0.064;0.043;0.064	T	0.41431	-0.9509	9	0.87932	D	0	.	10.5819	0.45261	0.0:0.7861:0.0:0.2139	.	1585;1608;1610;1615;1539;1568;1605;1608	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	K	1568;1610;1585;1608;1605;1615;1539	ENSP00000378820:E1568K;ENSP00000354950:E1610K;ENSP00000378821:E1585K;ENSP00000322604:E1608K;ENSP00000378818:E1605K;ENSP00000412628:E1539K	ENSP00000322604:E1608K	E	-	1	0	PCDH15	55252670	0.080000	0.21391	0.000000	0.03702	0.038000	0.13279	1.491000	0.35583	0.244000	0.21351	-0.142000	0.14014	GAA		0.443	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		75	85	0	0	0	0	75	85				
PHYHIPL	84457	broad.mit.edu	37	10	60936718	60936718	+	Splice_Site	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:60936718C>T	ENST00000373880.4	+	1	369	c.105C>T	c.(103-105)gaC>gaT	p.D35D	PHYHIPL_ENST00000433653.1_Splice_Site_p.D35D|PHYHIPL_ENST00000373878.3_5'Flank	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	35						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						GCGACCGGGACGGTAAGAGCG	0.697																																						uc001jkk.3		NA																	0					0						c.(103-105)GAC>GAT		phytanoyl-CoA 2-hydroxylase interacting							53.0	46.0	49.0					10																	60936718		2202	4300	6502	SO:0001630	splice_region_variant	84457							g.chr10:60936718C>T	AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"""Fibronectin type III domain containing"""	29378	protein-coding gene	gene with protein product			"""phytanoyl-CoA hydroxylase interacting protein-like"""			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.106+1C>T	10.37:g.60936718C>T						PHYHIPL_uc001jkl.3_Translation_Start_Site|PHYHIPL_uc001jkm.3_5'Flank	p.D35D	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN			1	371	+			35					B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Silent	SNP	ENST00000373880.4	37	c.105C>T	CCDS7254.1																																																																																				0.697	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439	Silent	6	18	0	0	0	0	6	18				
ZNF503	84858	broad.mit.edu	37	10	77158680	77158680	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:77158680G>C	ENST00000372524.4	-	2	2254	c.1768C>G	c.(1768-1770)Cgc>Ggc	p.R590G	ZNF503_ENST00000535216.1_Missense_Mutation_p.R590G|ZNF503-AS2_ENST00000466942.2_RNA|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	590					G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TGGGGGCTGCGCAGCGCCAGC	0.751																																						uc001jxg.2		NA																	0				ovary(1)	1						c.(1768-1770)CGC>GGC		zinc finger protein 503							7.0	10.0	9.0					10																	77158680		2138	4140	6278	SO:0001583	missense	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77158680G>C	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1768C>G	10.37:g.77158680G>C	ENSP00000361602:p.Arg590Gly					C10orf41_uc010qlf.1_5'Flank	p.R590G	NM_032772	NP_116161	Q96F45	ZN503_HUMAN			2	2104	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		590					Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	ENST00000372524.4	37	c.1768C>G	CCDS7350.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249373	0.59103	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.47528	0.84;0.84	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	M	0.66939	2.045	0.58432	D	0.999994	D	0.69078	0.997	D	0.76071	0.987	T	0.65994	-0.6033	10	0.37606	T	0.19	-26.4131	17.6258	0.88093	0.0:0.0:1.0:0.0	.	590	Q96F45	ZN503_HUMAN	G	590;590;553	ENSP00000361602:R590G;ENSP00000438988:R590G	ENSP00000361594:R553G	R	-	1	0	ZNF503	76828686	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.033000	0.41136	2.376000	0.81061	0.643000	0.83706	CGC		0.751	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		5	9	0	0	0	0	5	9				
WAPAL	23063	broad.mit.edu	37	10	88277758	88277758	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:88277758G>C	ENST00000298767.5	-	2	541	c.69C>G	c.(67-69)gtC>gtG	p.V23V		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	23	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGTTGGAAAAGACTTCATCGA	0.398																																						uc001kdo.2		NA																	0				ovary(1)	1						c.(67-69)GTC>GTG		wings apart-like homolog							88.0	83.0	85.0					10																	88277758		2203	4300	6503	SO:0001819	synonymous_variant	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88277758G>C	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.69C>G	10.37:g.88277758G>C						WAPAL_uc001kdn.2_Silent_p.V66V|WAPAL_uc009xsw.2_Silent_p.V23V|WAPAL_uc010qmh.1_Silent_p.V23V|WAPAL_uc010qmi.1_Silent_p.V60V|WAPAL_uc010qmj.1_Silent_p.V23V	p.V23V	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			2	511	-			23			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Silent	SNP	ENST00000298767.5	37	c.69C>G	CCDS7375.1																																																																																				0.398	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		4	49	0	0	0	0	4	49				
LCOR	84458	broad.mit.edu	37	10	98714869	98714869	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:98714869G>A	ENST00000371097.4	+	8	1038	c.492G>A	c.(490-492)ctG>ctA	p.L164L	LCOR_ENST00000371103.3_Silent_p.L164L|LCOR_ENST00000356016.3_Silent_p.L164L|LCOR_ENST00000540664.1_Silent_p.L164L|LCOR_ENST00000498444.1_Intron			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	164					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)		AAGAACTACTGAGCAGAAACC	0.478																																						uc001kms.1		NA																	0				ovary(3)	3						c.(490-492)CTG>CTA		ligand dependent nuclear receptor corepressor							76.0	70.0	72.0					10																	98714869		2203	4300	6503	SO:0001819	synonymous_variant	84458					nucleus	DNA binding	g.chr10:98714869G>A		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.492G>A	10.37:g.98714869G>A						LCOR_uc001kmr.2_Silent_p.L164L|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Silent_p.L164L|LCOR_uc001kmu.1_Silent_p.L164L	p.L164L	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)	8	1013	+		Colorectal(252;0.162)	164					D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Silent	SNP	ENST00000371097.4	37	c.492G>A	CCDS7451.1																																																																																				0.478	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			21	31	0	0	0	0	21	31				
KNDC1	85442	broad.mit.edu	37	10	135015069	135015069	+	Silent	SNP	G	G	A	rs191568937	byFrequency	TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:135015069G>A	ENST00000304613.3	+	17	3075	c.3054G>A	c.(3052-3054)tcG>tcA	p.S1018S	KNDC1_ENST00000368571.2_Silent_p.S953S|KNDC1_ENST00000368572.2_Silent_p.S1020S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1018					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTCGGTGTCGGATGTGGACT	0.617													g|||	2	0.000399361	0.0015	0.0	5008	,	,		16685	0.0		0.0	False		,,,				2504	0.0					uc001llz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3052-3054)TCG>TCA		kinase non-catalytic C-lobe domain (KIND)		G		0,4406		0,0,2203	56.0	65.0	62.0		3054	-8.7	0.0	10		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KNDC1	NM_152643.6		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1018/1750	135015069	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135015069G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3054G>A	10.37:g.135015069G>A						KNDC1_uc001lma.1_Silent_p.S953S|KNDC1_uc001lmb.1_Silent_p.S430S	p.S1018S	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	17	3055	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1018					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	c.3054G>A	CCDS7674.1																																																																																				0.617	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		36	68	0	0	0	0	36	68				
KNDC1	85442	broad.mit.edu	37	10	135015189	135015189	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:135015189C>T	ENST00000304613.3	+	17	3195	c.3174C>T	c.(3172-3174)ggC>ggT	p.G1058G	KNDC1_ENST00000368571.2_Silent_p.G993G|KNDC1_ENST00000368572.2_Silent_p.G1060G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1058					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCCAGCTGGCGGGGCCTCAG	0.682																																						uc001llz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3172-3174)GGC>GGT		kinase non-catalytic C-lobe domain (KIND)							26.0	33.0	31.0					10																	135015189		2202	4299	6501	SO:0001819	synonymous_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135015189C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3174C>T	10.37:g.135015189C>T						KNDC1_uc001lma.1_Silent_p.G993G|KNDC1_uc001lmb.1_Silent_p.G470G	p.G1058G	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	17	3175	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1058					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	c.3174C>T	CCDS7674.1																																																																																				0.682	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		11	34	0	0	0	0	11	34				
EPS8L2	64787	broad.mit.edu	37	11	721618	721618	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:721618G>A	ENST00000533256.1	+	11	1197	c.822G>A	c.(820-822)caG>caA	p.Q274Q	EPS8L2_ENST00000318562.8_Silent_p.Q274Q|EPS8L2_ENST00000526198.1_Silent_p.Q290Q|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Silent_p.Q274Q			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	274					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)	p.Q274Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGGCTGCAGAAGGCAGCCG	0.647																																						uc001lqt.2		NA																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(1)	1						c.(820-822)CAG>CAA		epidermal growth factor receptor pathway							20.0	30.0	27.0					11																	721618		2175	4268	6443	SO:0001819	synonymous_variant	64787					cytoplasm		g.chr11:721618G>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.822G>A	11.37:g.721618G>A						EPS8L2_uc010qwj.1_Silent_p.Q290Q|EPS8L2_uc001lqu.2_Silent_p.Q274Q|EPS8L2_uc010qwk.1_Silent_p.Q290Q|EPS8L2_uc001lqv.2_Silent_p.Q229Q|EPS8L2_uc001lqw.2_5'UTR|EPS8L2_uc001lqx.2_5'Flank|EPS8L2_uc001lqy.2_5'Flank	p.Q274Q	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	1069	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	274					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	c.822G>A	CCDS31328.1																																																																																				0.647	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		29	54	0	0	0	0	29	54				
EPS8L2	64787	broad.mit.edu	37	11	721628	721628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:721628G>A	ENST00000533256.1	+	11	1207	c.832G>A	c.(832-834)Gag>Aag	p.E278K	EPS8L2_ENST00000318562.8_Missense_Mutation_p.E278K|EPS8L2_ENST00000526198.1_Missense_Mutation_p.E294K|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.E278K			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	278					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAAGGCAGCCGAGGCTTTCAA	0.647																																						uc001lqt.2		NA																	0				pancreas(1)	1						c.(832-834)GAG>AAG		epidermal growth factor receptor pathway							24.0	34.0	31.0					11																	721628		2188	4278	6466	SO:0001583	missense	64787					cytoplasm		g.chr11:721628G>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.832G>A	11.37:g.721628G>A	ENSP00000435585:p.Glu278Lys					EPS8L2_uc010qwj.1_Missense_Mutation_p.E294K|EPS8L2_uc001lqu.2_Missense_Mutation_p.E278K|EPS8L2_uc010qwk.1_Missense_Mutation_p.E294K|EPS8L2_uc001lqv.2_Missense_Mutation_p.E233K|EPS8L2_uc001lqw.2_5'UTR|EPS8L2_uc001lqx.2_5'Flank|EPS8L2_uc001lqy.2_5'Flank	p.E278K	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	1079	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	278					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	c.832G>A	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.998703	0.74818	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	3.71	3.71	0.42584	.	0.161199	0.39341	N	0.001386	T	0.68787	0.3039	M	0.68593	2.085	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.70487	0.969;0.844;0.958	T	0.73852	-0.3852	10	0.72032	D	0.01	-39.6168	14.7991	0.69900	0.0:0.0:1.0:0.0	.	294;322;278	B7ZKL3;B4DFD2;Q9H6S3	.;.;ES8L2_HUMAN	K	278;278;278;294	ENSP00000320828:E278K;ENSP00000435585:E278K;ENSP00000436035:E278K;ENSP00000436230:E294K	ENSP00000320828:E278K	E	+	1	0	EPS8L2	711628	1.000000	0.71417	0.480000	0.27341	0.061000	0.15899	7.040000	0.76551	2.093000	0.63338	0.645000	0.84053	GAG		0.647	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		27	50	0	0	0	0	27	50				
KRTAP5-4	387267	broad.mit.edu	37	11	1642989	1642989	+	Missense_Mutation	SNP	C	C	A	rs184758001		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:1642989C>A	ENST00000399682.1	-	1	379	c.335G>T	c.(334-336)gGc>gTc	p.G112V		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G112V(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGCCACAGCCCCC	0.677																																						uc009ycy.1		NA																	3	Substitution - Missense(3)		skin(2)|NS(1)		0						c.(472-474)GGC>GTC		keratin associated protein 5-4							8.0	18.0	15.0					11																	1642989		664	1524	2188	SO:0001583	missense	387267					keratin filament		g.chr11:1642989C>A	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.335G>T	11.37:g.1642989C>A	ENSP00000382590:p.Gly112Val						p.G158V	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	3	560	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	172			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.473G>T		48	0.02197802197802198	13	0.026422764227642278	8	0.022099447513812154	6	0.01048951048951049	21	0.027704485488126648	C	2.407	-0.336332	0.05278	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00760	5.73	3.38	3.38	0.38709	.	.	.	.	.	T	0.01092	0.0036	M	0.76574	2.34	0.42892	D	0.994203	D	0.89917	1.0	D	0.80764	0.994	T	0.60342	-0.7282	9	0.32370	T	0.25	.	12.5747	0.56357	0.0:1.0:0.0:0.0	.	172	Q6L8H1	KRA54_HUMAN	V	112	ENSP00000382590:G112V	ENSP00000331603:G112V	G	-	2	0	KRTAP5-4	1599565	0.183000	0.23186	0.998000	0.56505	0.059000	0.15707	0.616000	0.24344	1.573000	0.49748	0.579000	0.79373	GGC		0.677	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		9	81	1	0	0.00244969	0.00325412	9	81				
NUP98	4928	broad.mit.edu	37	11	3740767	3740767	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:3740767G>C	ENST00000324932.7	-	18	2694	c.2274C>G	c.(2272-2274)atC>atG	p.I758M	NUP98_ENST00000355260.3_Missense_Mutation_p.I758M|NUP98_ENST00000397007.4_Missense_Mutation_p.I775M|NUP98_ENST00000397004.4_Missense_Mutation_p.I758M|NUP98_ENST00000359171.4_Missense_Mutation_p.I758M	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	775	Peptidase S59. {ECO:0000255|PROSITE- ProRule:PRU00765}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTTCAAAATAGATTGAACCAT	0.308			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2		NA		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		0				breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(2272-2274)ATC>ATG		nucleoporin 98kD isoform 1							55.0	53.0	54.0					11																	3740767		2201	4294	6495	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3740767G>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2274C>G	11.37:g.3740767G>C	ENSP00000316032:p.Ile758Met					NUP98_uc001lyi.2_Missense_Mutation_p.I758M|NUP98_uc001lyj.1_Missense_Mutation_p.I758M|NUP98_uc001lyk.1_Missense_Mutation_p.I775M	p.I758M	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	18	2565	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	775			Peptidase S59.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.2274C>G	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274405	0.59649	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.37	3.43	0.39272	.	0.055226	0.64402	D	0.000001	T	0.77465	0.4134	M	0.88842	2.985	0.39932	D	0.9743	D;D;D;D	0.89917	0.988;0.975;1.0;0.996	P;P;D;D	0.74348	0.884;0.783;0.983;0.976	T	0.78615	-0.2135	9	0.87932	D	0	.	5.072	0.14611	0.1683:0.0:0.6364:0.1953	.	775;758;758;758	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	M	758;758;758;758;775	.	ENSP00000316032:I758M	I	-	3	3	NUP98	3697343	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	0.359000	0.20233	1.197000	0.43143	0.563000	0.77884	ATC		0.308	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		9	23	0	0	0	0	9	23				
SYT9	143425	broad.mit.edu	37	11	7334938	7334938	+	Silent	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:7334938A>G	ENST00000318881.6	+	3	1047	c.810A>G	c.(808-810)acA>acG	p.T270T	SYT9_ENST00000396716.2_Silent_p.T238T	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	270	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATCGGAAAACAAAACACCAGA	0.423																																						uc001mfe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(808-810)ACA>ACG		synaptotagmin IX							167.0	167.0	167.0					11																	7334938		2201	4296	6497	SO:0001819	synonymous_variant	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7334938A>G	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.810A>G	11.37:g.7334938A>G						SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	p.T270T	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	1047	+			270			Cytoplasmic (Potential).|C2 1.			Silent	SNP	ENST00000318881.6	37	c.810A>G	CCDS7778.1																																																																																				0.423	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		9	184	0	0	0	0	9	184				
ST5	6764	broad.mit.edu	37	11	8724164	8724164	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:8724164G>C	ENST00000534127.1	-	17	3060	c.2675C>G	c.(2674-2676)tCa>tGa	p.S892*	ST5_ENST00000534278.1_Nonsense_Mutation_p.S83*|ST5_ENST00000530438.1_Nonsense_Mutation_p.S472*|ST5_ENST00000357665.1_Nonsense_Mutation_p.S892*|ST5_ENST00000530991.1_Nonsense_Mutation_p.S364*|ST5_ENST00000526099.1_Nonsense_Mutation_p.S405*|ST5_ENST00000313726.6_Nonsense_Mutation_p.S892*|ST5_ENST00000526757.1_Nonsense_Mutation_p.S472*|RPL27A_ENST00000531102.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	892	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CAGCAGCAGTGAGGCAAAGAT	0.592																																						uc001mgt.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(2674-2676)TCA>TGA		suppression of tumorigenicity 5 isoform 1							75.0	69.0	71.0					11																	8724164		2201	4296	6497	SO:0001587	stop_gained	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8724164G>C	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2675C>G	11.37:g.8724164G>C	ENSP00000433528:p.Ser892*					ST5_uc009yfr.2_Nonsense_Mutation_p.S472*|ST5_uc001mgu.2_Nonsense_Mutation_p.S472*|ST5_uc001mgv.2_Nonsense_Mutation_p.S892*|ST5_uc010rbp.1_Nonsense_Mutation_p.S405*|ST5_uc009yfs.2_RNA	p.S892*	NM_213618	NP_998783	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	14	2861	-			892			DENN.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Nonsense_Mutation	SNP	ENST00000534127.1	37	c.2675C>G	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	g	42	9.458313	0.99177	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438;ENST00000533081	.	.	.	4.72	3.8	0.43715	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.2538	13.2234	0.59901	0.0788:0.0:0.9212:0.0	.	.	.	.	X	472;892;892;364;892;405;83;472;82	.	ENSP00000319678:S892X	S	-	2	0	ST5	8680740	1.000000	0.71417	0.991000	0.47740	0.784000	0.44337	8.010000	0.88615	2.165000	0.68154	0.486000	0.48141	TCA		0.592	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		16	55	0	0	0	0	16	55				
ARNTL	406	broad.mit.edu	37	11	13397291	13397291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:13397291C>T	ENST00000403290.1	+	15	1662	c.1307C>T	c.(1306-1308)tCa>tTa	p.S436L	ARNTL_ENST00000389708.3_Missense_Mutation_p.S436L|ARNTL_ENST00000403510.3_Missense_Mutation_p.S392L|ARNTL_ENST00000361003.4_Missense_Mutation_p.S318L|ARNTL_ENST00000396441.3_Missense_Mutation_p.S435L|ARNTL_ENST00000403482.3_Missense_Mutation_p.S434L|ARNTL_ENST00000389707.4_Missense_Mutation_p.S435L|ARNTL_ENST00000401424.1_Missense_Mutation_p.S393L			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	436	PAC.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TATATTGTCTCAACTAACACT	0.403																																						uc001mkr.2		NA																	0					0						c.(1306-1308)TCA>TTA		aryl hydrocarbon receptor nuclear							108.0	91.0	97.0					11																	13397291		2200	4294	6494	SO:0001583	missense	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13397291C>T	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1307C>T	11.37:g.13397291C>T	ENSP00000384517:p.Ser436Leu					ARNTL_uc001mko.2_Missense_Mutation_p.S392L|ARNTL_uc001mkp.2_Missense_Mutation_p.S435L|ARNTL_uc001mkq.2_Missense_Mutation_p.S435L|ARNTL_uc001mks.2_Missense_Mutation_p.S393L|ARNTL_uc001mkt.2_Missense_Mutation_p.S436L|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Missense_Mutation_p.S275L|ARNTL_uc001mkw.2_Missense_Mutation_p.S393L|ARNTL_uc001mkx.2_Missense_Mutation_p.S434L|ARNTL_uc001mky.2_5'UTR	p.S436L	NM_001178	NP_001169	O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	15	1715	+			436			PAC.		A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	ENST00000403290.1	37	c.1307C>T		.	.	.	.	.	.	.	.	.	.	C	31	5.069232	0.93950	.	.	ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000339640;ENST00000403482	T;T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11	5.41	5.41	0.78517	PAS fold-3 (1);	0.117788	0.64402	D	0.000012	T	0.52565	0.1742	M	0.82630	2.6	0.80722	D	1	P;D;D;D;D;D	0.89917	0.945;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.943;0.999;0.999;0.998;0.995;1.0	T	0.58053	-0.7704	10	0.72032	D	0.01	.	18.7842	0.91947	0.0:1.0:0.0:0.0	.	318;434;393;436;435;392	O00327-4;O00327-7;O00327-1;O00327;O00327-8;A2I2N6	.;.;.;BMAL1_HUMAN;.;.	L	435;435;393;436;318;436;392;392;434	ENSP00000379718:S435L;ENSP00000374357:S435L;ENSP00000385915:S393L;ENSP00000384517:S436L;ENSP00000354278:S318L;ENSP00000374358:S436L;ENSP00000385581:S392L;ENSP00000385897:S434L	ENSP00000340289:S392L	S	+	2	0	ARNTL	13353867	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.484000	0.81180	2.515000	0.84797	0.561000	0.74099	TCA		0.403	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		12	21	0	0	0	0	12	21				
MYBPC3	4607	broad.mit.edu	37	11	47353698	47353698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:47353698C>T	ENST00000545968.1	-	33	3793	c.3739G>A	c.(3739-3741)Gac>Aac	p.D1247N	MYBPC3_ENST00000256993.4_Missense_Mutation_p.D1246N|MYBPC3_ENST00000399249.2_Missense_Mutation_p.D1247N	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1247	Ig-like C2-type 7.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ATGCCCCCGTCAAAGGGGCAG	0.627																																						uc001nfa.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3739-3741)GAC>AAC		myosin binding protein C, cardiac							55.0	59.0	58.0					11																	47353698		1961	4144	6105	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47353698C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3739G>A	11.37:g.47353698C>T	ENSP00000442795:p.Asp1247Asn						p.D1247N	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	32	3794	-			1246			Ig-like C2-type 7.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.3739G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979693	0.92982	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.80994	-1.44;-1.44;-1.44	5.46	5.46	0.80206	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92548	0.7633	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94192	0.7442	9	0.87932	D	0	.	18.0769	0.89430	0.0:1.0:0.0:0.0	.	1246	Q14896	MYPC3_HUMAN	N	1247;1247;1246	ENSP00000442795:D1247N;ENSP00000382193:D1247N;ENSP00000256993:D1246N	ENSP00000256993:D1246N	D	-	1	0	MYBPC3	47310274	1.000000	0.71417	0.287000	0.24848	0.597000	0.36814	7.458000	0.80787	2.556000	0.86216	0.561000	0.74099	GAC		0.627	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			28	48	0	0	0	0	28	48				
OR4S2	219431	broad.mit.edu	37	11	55418944	55418944	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:55418944G>T	ENST00000312422.2	+	1	565	c.565G>T	c.(565-567)Gaa>Taa	p.E189*		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGCCTGCACAGAAACATACAT	0.438																																						uc001nhs.1		NA																	0				skin(2)|ovary(1)	3						c.(565-567)GAA>TAA		olfactory receptor, family 4, subfamily S,							259.0	195.0	218.0					11																	55418944		2182	4046	6228	SO:0001587	stop_gained	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418944G>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.565G>T	11.37:g.55418944G>T	ENSP00000310337:p.Glu189*						p.E189*	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	565	+		all_epithelial(135;0.0748)	189			Extracellular (Potential).		Q6IF72	Nonsense_Mutation	SNP	ENST00000312422.2	37	c.565G>T	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385524	0.61956	.	.	ENSG00000174982	ENST00000312422	.	.	.	5.35	4.43	0.53597	.	0.221037	0.31347	N	0.007815	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.1536	0.59503	0.0797:0.0:0.9203:0.0	.	.	.	.	X	189	.	ENSP00000310337:E189X	E	+	1	0	OR4S2	55175520	0.000000	0.05858	0.743000	0.31040	0.655000	0.38815	0.421000	0.21280	1.229000	0.43630	0.542000	0.68232	GAA		0.438	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		35	170	1	0	9.18e-22	1.29e-21	35	170				
SMTNL1	219537	broad.mit.edu	37	11	57310335	57310335	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:57310335G>C	ENST00000399154.2	+	1	220	c.220G>C	c.(220-222)Gat>Cat	p.D74H	SMTNL1_ENST00000527972.1_Missense_Mutation_p.D74H|SMTNL1_ENST00000457912.1_Missense_Mutation_p.D92H			A8MU46	SMTL1_HUMAN	smoothelin-like 1	74	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						AAATGGATTAGATGAGGTCAA	0.542																																						uc009ymh.1		NA																	0				ovary(1)	1						c.(274-276)GAT>CAT		smoothelin-like 1							59.0	63.0	62.0					11																	57310335		2005	4177	6182	SO:0001583	missense	219537							g.chr11:57310335G>C	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.220G>C	11.37:g.57310335G>C	ENSP00000382108:p.Asp74His						p.D92H	NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN			2	274	+			74						Missense_Mutation	SNP	ENST00000399154.2	37	c.274G>C		.	.	.	.	.	.	.	.	.	.	G	17.33	3.362580	0.61403	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	D;D;T	0.95238	-3.65;-3.63;4.2	5.1	3.2	0.36748	.	2.608580	0.02291	U	0.070324	D	0.92116	0.7501	N	0.24115	0.695	0.09310	N	1	P	0.51653	0.947	P	0.46975	0.533	T	0.83223	-0.0067	10	0.62326	D	0.03	-0.1595	8.5491	0.33440	0.0858:0.1545:0.7598:0.0	.	92	C9J621	.	H	92;74;74	ENSP00000406485:D92H;ENSP00000432651:D74H;ENSP00000382108:D74H	ENSP00000382108:D74H	D	+	1	0	SMTNL1	57066911	0.953000	0.32496	0.019000	0.16419	0.976000	0.68499	3.288000	0.51739	0.537000	0.28751	0.655000	0.94253	GAT		0.542	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		3	8	0	0	0	0	3	8				
OSBP	5007	broad.mit.edu	37	11	59377944	59377944	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:59377944G>A	ENST00000263847.1	-	2	960	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	161	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CTAGCTTTCAGATGGTAGGTC	0.557																																						uc001noc.1		NA																	0				large_intestine(1)	1						c.(481-483)CTG>TTG		oxysterol binding protein							154.0	139.0	144.0					11																	59377944		2201	4295	6496	SO:0001819	synonymous_variant	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59377944G>A	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.481C>T	11.37:g.59377944G>A							p.L161L	NM_002556	NP_002547	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	2	961	-		all_epithelial(135;0.000236)	161			PH.		Q6P524	Silent	SNP	ENST00000263847.1	37	c.481C>T	CCDS7974.1																																																																																				0.557	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			28	75	0	0	0	0	28	75				
CABP4	57010	broad.mit.edu	37	11	67223246	67223246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:67223246C>T	ENST00000325656.5	+	1	429	c.352C>T	c.(352-354)Cga>Tga	p.R118*	CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	118					photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCTGCTCAATCGAGTCTTCGG	0.662																																						uc001olo.2		NA																	0					0						c.(352-354)CGA>TGA		calcium binding protein 4							6.0	7.0	7.0					11																	67223246		2140	4226	6366	SO:0001587	stop_gained	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67223246C>T	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.352C>T	11.37:g.67223246C>T	ENSP00000324960:p.Arg118*					CABP4_uc001oln.2_5'UTR	p.R118*	NM_145200	NP_660201	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	429	+			118					Q8N4Z2|Q8WWY5	Nonsense_Mutation	SNP	ENST00000325656.5	37	c.352C>T	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863856	0.51482	.	.	ENSG00000175544	ENST00000325656	.	.	.	5.07	4.08	0.47627	.	0.502047	0.17387	N	0.176082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1992	9.1026	0.36678	0.2763:0.7237:0.0:0.0	.	.	.	.	X	118	.	ENSP00000324960:R118X	R	+	1	2	CABP4	66979822	0.928000	0.31464	0.973000	0.42090	0.425000	0.31504	2.043000	0.41231	2.356000	0.79943	0.491000	0.48974	CGA		0.662	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			6	11	0	0	0	0	6	11				
MTL5	9633	broad.mit.edu	37	11	68514686	68514686	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:68514686G>T	ENST00000255087.5	-	3	803	c.620C>A	c.(619-621)tCc>tAc	p.S207Y	MTL5_ENST00000443940.2_Missense_Mutation_p.S207Y|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.S207Y	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	207					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CATTGGGTTGGAATCTTTCTT	0.418																																						uc001ooc.2		NA																	0				ovary(2)|breast(1)	3						c.(619-621)TCC>TAC		metallothionein-like 5, testis-specific isoform							141.0	132.0	135.0					11																	68514686		2200	4294	6494	SO:0001583	missense	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68514686G>T	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.620C>A	11.37:g.68514686G>T	ENSP00000255087:p.Ser207Tyr					MTL5_uc001ood.1_Missense_Mutation_p.S207Y|MTL5_uc009ysi.1_Missense_Mutation_p.S207Y|MTL5_uc001ooe.2_Missense_Mutation_p.S207Y	p.S207Y	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		3	760	-	Esophageal squamous(3;4.37e-12)		207					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	c.620C>A	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869195	0.32977	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.57107	1.16;0.42;1.01	5.0	3.01	0.34805	.	0.552216	0.16684	N	0.203840	T	0.56381	0.1981	L	0.32530	0.975	0.09310	N	1	D;D;D	0.76494	0.999;0.994;0.978	D;P;P	0.67548	0.952;0.878;0.564	T	0.43540	-0.9385	10	0.87932	D	0	-0.7185	7.3019	0.26426	0.0918:0.0:0.7454:0.1628	.	207;190;207	Q9Y4I5-3;Q6PHY4;Q9Y4I5	.;.;MTL5_HUMAN	Y	207	ENSP00000255087:S207Y;ENSP00000403086:S207Y;ENSP00000440968:S207Y	ENSP00000255087:S207Y	S	-	2	0	MTL5	68271262	0.103000	0.21917	0.032000	0.17829	0.576000	0.36127	0.917000	0.28665	0.607000	0.29982	-0.367000	0.07326	TCC		0.418	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		11	31	1	0	1.62e-10	2.23e-10	11	31				
GDPD5	81544	broad.mit.edu	37	11	75148046	75148046	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:75148046A>G	ENST00000336898.3	-	16	2441	c.1604T>C	c.(1603-1605)cTg>cCg	p.L535P	GDPD5_ENST00000533784.1_Missense_Mutation_p.L416P|GDPD5_ENST00000529721.1_Missense_Mutation_p.L535P|GDPD5_ENST00000526177.1_Missense_Mutation_p.L397P|GDPD5_ENST00000533805.1_Missense_Mutation_p.L290P|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Missense_Mutation_p.L416P	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	535					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CGCAGCACTCAGCATGATCTG	0.622																																						uc001owo.3		NA																	0				ovary(1)	1						c.(1603-1605)CTG>CCG		glycerophosphodiester phosphodiesterase domain							67.0	59.0	62.0					11																	75148046		2200	4293	6493	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75148046A>G	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1604T>C	11.37:g.75148046A>G	ENSP00000337972:p.Leu535Pro					GDPD5_uc001owp.3_Missense_Mutation_p.L535P|GDPD5_uc001own.3_Missense_Mutation_p.L290P|GDPD5_uc009yuc.2_Missense_Mutation_p.L397P|GDPD5_uc009yud.2_Missense_Mutation_p.L416P	p.L535P	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN			17	2141	-			535			Cytoplasmic (Potential).		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.1604T>C	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450305	0.84101	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282;ENST00000534322	T;T;T;T;T;T;T	0.49432	1.62;1.67;1.72;1.72;1.66;1.67;0.78	5.34	5.34	0.76211	.	0.085303	0.47455	D	0.000221	T	0.66426	0.2788	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.68644	-0.5354	10	0.52906	T	0.07	-12.5721	13.2659	0.60133	1.0:0.0:0.0:0.0	.	416;535	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	P	397;416;535;535;290;416;124	ENSP00000434050:L397P;ENSP00000437049:L416P;ENSP00000433214:L535P;ENSP00000337972:L535P;ENSP00000435196:L290P;ENSP00000365459:L416P;ENSP00000435728:L124P	ENSP00000337972:L535P	L	-	2	0	GDPD5	74825694	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.620000	0.90943	2.016000	0.59253	0.379000	0.24179	CTG		0.622	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		13	33	0	0	0	0	13	33				
SERPINH1	871	broad.mit.edu	37	11	75277820	75277820	+	Silent	SNP	C	C	T	rs371660937		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:75277820C>T	ENST00000524558.1	+	2	1861	c.426C>T	c.(424-426)ttC>ttT	p.F142F	SERPINH1_ENST00000525876.1_5'Flank|SERPINH1_ENST00000530284.1_Silent_p.F142F|SERPINH1_ENST00000358171.3_Silent_p.F142F|SERPINH1_ENST00000533603.1_Silent_p.F142F			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	142					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CAGTGAGCTTCGCTGATGACT	0.627																																						uc001owr.2		NA																	0				ovary(2)	2						c.(424-426)TTC>TTT		serine (or cysteine) proteinase inhibitor, clade		C	,	0,4400		0,0,2200	40.0	38.0	38.0		426,426	-1.7	0.9	11		38	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous	SERPINH1	NM_001207014.1,NM_001235.3	,	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	,	142/419,142/419	75277820	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75277820C>T	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.426C>T	11.37:g.75277820C>T						SERPINH1_uc009yuf.2_Silent_p.F142F|SERPINH1_uc009yug.2_Silent_p.F142F|SERPINH1_uc001ows.2_Silent_p.F142F|SERPINH1_uc001owt.2_5'Flank	p.F142F	NM_001235	NP_001226	P50454	SERPH_HUMAN			2	655	+	Ovarian(111;0.11)		142					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Silent	SNP	ENST00000524558.1	37	c.426C>T	CCDS8239.1																																																																																				0.627	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		8	38	0	0	0	0	8	38				
THRSP	7069	broad.mit.edu	37	11	77775068	77775068	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:77775068C>G	ENST00000281030.2	+	1	162	c.141C>G	c.(139-141)ggC>ggG	p.G47G	NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	47					lipid metabolic process (GO:0006629)|regulation of lipid biosynthetic process (GO:0046890)|regulation of transcription, DNA-templated (GO:0006355)|regulation of triglyceride biosynthetic process (GO:0010866)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			GGCCTGGGGGCCAGGCCCAGG	0.637																																						uc001oyx.2		NA																	0				breast(1)	1						c.(139-141)GGC>GGG		thyroid hormone-responsive protein							85.0	87.0	86.0					11																	77775068		2200	4292	6492	SO:0001819	synonymous_variant	7069				lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus		g.chr11:77775068C>G	Y08409	CCDS8256.1	11q14.1	2012-06-19	2010-06-25		ENSG00000151365	ENSG00000151365			11800	protein-coding gene	gene with protein product	"""SPOT14 homolog (rat)"""	601926	"""thyroid hormone responsive SPOT14 (rat) homolog"", ""lipogenic protein 1"""	LPGP1		9003802	Standard	NM_003251		Approved	SPOT14, Lpgp, S14, THRP	uc001oyx.3	Q92748	OTTHUMG00000166632	ENST00000281030.2:c.141C>G	11.37:g.77775068C>G							p.G47G	NM_003251	NP_003242	Q92748	THRSP_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		1	162	+	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		47					B2R4W7	Silent	SNP	ENST00000281030.2	37	c.141C>G	CCDS8256.1																																																																																				0.637	THRSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390939.1	NM_003251		19	105	0	0	0	0	19	105				
DSCAML1	57453	broad.mit.edu	37	11	117308639	117308639	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:117308639C>G	ENST00000321322.6	-	25	4585	c.4584G>C	c.(4582-4584)gaG>gaC	p.E1528D	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1258D	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1468	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		CCTCGATGATCTCGCTGATGC	0.662																																						uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(4582-4584)GAG>GAC		Down syndrome cell adhesion molecule like 1							80.0	62.0	68.0					11																	117308639		2201	4296	6497	SO:0001583	missense	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.chr11:117308639C>G		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.4584G>C	11.37:g.117308639C>G	ENSP00000315465:p.Glu1528Asp						p.E1528D	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	25	4586	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1468			Fibronectin type-III 5.|Extracellular (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4584G>C	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374283	0.42105	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.55052	0.54;0.54	4.18	1.25	0.21368	Fibronectin, type III (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40119	0.1104	N	0.16037	0.36	0.47065	D	0.999307	P	0.47762	0.9	P	0.51945	0.685	T	0.08911	-1.0699	9	0.21014	T	0.42	.	7.7343	0.28804	0.0:0.666:0.0:0.334	.	1468	Q8TD84	DSCL1_HUMAN	D	1258;1528;1235	ENSP00000434335:E1258D;ENSP00000315465:E1528D	ENSP00000315465:E1528D	E	-	3	2	DSCAML1	116813849	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.545000	0.45769	0.165000	0.19558	-0.266000	0.10368	GAG		0.662	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		3	27	0	0	0	0	3	27				
CHD4	1108	broad.mit.edu	37	12	6709458	6709459	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:6709458_6709459GG>TA	ENST00000357008.2	-	9	1329_1330	c.1166_1167CC>TA	c.(1165-1167)cCC>cTA	p.P389L	CHD4_ENST00000544484.1_Missense_Mutation_p.P386L|CHD4_ENST00000544040.1_Missense_Mutation_p.P382L|CHD4_ENST00000309577.6_Missense_Mutation_p.P389L	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	389					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGTAAGCACGGGGACAGGTATC	0.594																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NA																	0				central_nervous_system(2)	2						c.(1165-1167)CCC>CTA		chromodomain helicase DNA binding protein 4																																				SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6709458_6709459GG>TA	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1166_1167delinsTA	12.37:g.6709458_6709459delinsTA	ENSP00000349508:p.Pro389Leu					CHD4_uc001qpn.2_Missense_Mutation_p.P382L|CHD4_uc001qpp.2_Missense_Mutation_p.P386L	p.P389L	NM_001273	NP_001264	Q14839	CHD4_HUMAN			9	1330_1331	-			389			PHD-type 1.		Q8IXZ5	Missense_Mutation	DNP	ENST00000357008.2	37	c.1166_1167CC>TA	CCDS8552.1																																																																																				0.594	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		15	99	0	0	0	0	15	99				
PTPN6	5777	broad.mit.edu	37	12	7069304	7069304	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:7069304C>T	ENST00000318974.9	+	13	1727	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C	PTPN6_ENST00000456013.1_Missense_Mutation_p.R495C|PTPN6_ENST00000399448.1_Missense_Mutation_p.R497C|PTPN6_ENST00000447931.2_Missense_Mutation_p.R456C|PTPN6_ENST00000539029.1_3'UTR	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	495	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GCGGGCGCAGCGCTCGGGCAT	0.592																																						uc001qsb.2		NA																	0				breast(1)	1						c.(1483-1485)CGC>TGC		protein tyrosine phosphatase, non-receptor type							50.0	58.0	55.0					12																	7069304		2157	4270	6427	SO:0001583	missense	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7069304C>T		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1483C>T	12.37:g.7069304C>T	ENSP00000326010:p.Arg495Cys					PTPN6_uc001qsa.1_Missense_Mutation_p.R497C|PTPN6_uc010sfr.1_Missense_Mutation_p.R456C|PTPN6_uc009zfl.1_Missense_Mutation_p.R495C|PTPN6_uc010sfs.1_Missense_Mutation_p.R483C	p.R495C	NM_002831	NP_002822	P29350	PTN6_HUMAN			13	1725	+			495			Tyrosine-protein phosphatase.		A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	c.1483C>T	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135210	0.94517	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	4.79	4.79	0.61399	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.98479	0.9493	H	0.99764	4.76	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99737	1.1014	10	0.87932	D	0	.	18.0266	0.89271	0.0:1.0:0.0:0.0	.	483;456;495;495;497	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	C	497;456;495;495	ENSP00000382376:R497C;ENSP00000415979:R456C;ENSP00000326010:R495C;ENSP00000391592:R495C	ENSP00000326010:R495C	R	+	1	0	PTPN6	6939565	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.728000	0.68531	2.497000	0.84241	0.561000	0.74099	CGC		0.592	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		10	42	0	0	0	0	10	42				
TAS2R14	50840	broad.mit.edu	37	12	11091369	11091369	+	Silent	SNP	T	T	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:11091369T>C	ENST00000537503.1	-	1	493	c.438A>G	c.(436-438)gcA>gcG	p.A146A	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	146					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TGTTTATCAGTGCAATATTTA	0.343																																						uc010shi.1		NA																	0					0						c.(436-438)GCA>GCG		taste receptor, type 2, member 14							64.0	66.0	66.0					12																	11091369		2201	4300	6501	SO:0001819	synonymous_variant	50840				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity	g.chr12:11091369T>C	AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.438A>G	12.37:g.11091369T>C						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.A146A	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN			1	438	-			146			Helical; Name=4; (Potential).		Q645X3	Silent	SNP	ENST00000537503.1	37	c.438A>G	CCDS8637.1																																																																																				0.343	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370194.4	NM_023922		16	37	0	0	0	0	16	37				
SLC4A8	9498	broad.mit.edu	37	12	51868959	51868959	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:51868959C>T	ENST00000453097.2	+	16	2358	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M	SLC4A8_ENST00000358657.3_Missense_Mutation_p.T741M|SLC4A8_ENST00000394856.1_Missense_Mutation_p.T661M|SLC4A8_ENST00000514353.3_Missense_Mutation_p.T661M	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ACCTTAAAGACGTTTAAGACG	0.443																																						uc001rys.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2140-2142)ACG>ATG		solute carrier family 4, sodium bicarbonate							164.0	151.0	156.0					12																	51868959		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51868959C>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2141C>T	12.37:g.51868959C>T	ENSP00000405812:p.Thr714Met					SLC4A8_uc001rym.2_Missense_Mutation_p.T661M|SLC4A8_uc001ryn.2_Missense_Mutation_p.T661M|SLC4A8_uc001ryo.2_Missense_Mutation_p.T661M|SLC4A8_uc010snj.1_Missense_Mutation_p.T741M|SLC4A8_uc001ryr.2_Missense_Mutation_p.T714M|SLC4A8_uc010snk.1_Missense_Mutation_p.T661M	p.T714M	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	16	2319	+			714			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000453097.2	37	c.2141C>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742416	0.49151	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.56	5.56	0.83823	Bicarbonate transporter, C-terminal (1);	0.146446	0.64402	D	0.000008	T	0.80686	0.4670	L	0.40543	1.245	0.80722	D	1	D;B;B;B	0.71674	0.998;0.119;0.15;0.123	P;B;B;B	0.58577	0.841;0.04;0.066;0.027	T	0.81499	-0.0905	10	0.62326	D	0.03	.	14.2183	0.65807	0.15:0.85:0.0:0.0	.	661;741;714;714	E7EML0;Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;.;S4A8_HUMAN;.	M	741;714;661;714;661;661	ENSP00000351483:T741M;ENSP00000405812:T714M;ENSP00000378325:T661M;ENSP00000442561:T661M	ENSP00000315789:T714M	T	+	2	0	SLC4A8	50155226	0.708000	0.27876	0.997000	0.53966	0.981000	0.71138	1.275000	0.33144	2.792000	0.96026	0.557000	0.71058	ACG		0.443	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		5	80	0	0	0	0	5	80				
KRT1	3848	broad.mit.edu	37	12	53071509	53071509	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:53071509C>A	ENST00000252244.3	-	4	946	c.888G>T	c.(886-888)atG>atT	p.M296I		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	296	Coil 1B.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCACCTTGGTCATATAAGCAC	0.478																																						uc001sau.1		NA																	0				ovary(1)|skin(1)	2						c.(886-888)ATG>ATT		keratin 1							113.0	97.0	102.0					12																	53071509		2203	4300	6503	SO:0001583	missense	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53071509C>A	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.888G>T	12.37:g.53071509C>A	ENSP00000252244:p.Met296Ile					KRT1_uc001sav.1_Missense_Mutation_p.M296I	p.M296I	NM_006121	NP_006112	P04264	K2C1_HUMAN			4	947	-			296			Coil 1B.|Rod.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	c.888G>T	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.376178	0.42105	.	.	ENSG00000167768	ENST00000252244	D	0.88586	-2.4	5.12	3.29	0.37713	Filament (1);	.	.	.	.	D	0.91978	0.7459	M	0.75150	2.29	0.31913	N	0.614399	P	0.47841	0.901	P	0.59948	0.866	D	0.90284	0.4317	9	0.72032	D	0.01	.	6.694	0.23189	0.1334:0.667:0.1287:0.0709	.	296	P04264	K2C1_HUMAN	I	296	ENSP00000252244:M296I	ENSP00000252244:M296I	M	-	3	0	KRT1	51357776	0.632000	0.27172	0.068000	0.19968	0.144000	0.21451	1.315000	0.33608	0.666000	0.31087	0.555000	0.69702	ATG		0.478	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		25	60	1	0	7.93e-12	1.1e-11	25	60				
ERBB3	2065	broad.mit.edu	37	12	56477581	56477581	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:56477581G>A	ENST00000267101.3	+	2	569	c.129G>A	c.(127-129)gaG>gaA	p.E43E	ERBB3_ENST00000415288.2_5'UTR|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Silent_p.E43E	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	43					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCGATGCTGAGAACCAATACC	0.547																																						uc001sjh.2		NA																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(127-129)GAG>GAA		erbB-3 isoform 1 precursor							296.0	238.0	258.0					12																	56477581		2203	4300	6503	SO:0001819	synonymous_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56477581G>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.129G>A	12.37:g.56477581G>A						ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_5'UTR|ERBB3_uc001sjg.2_Silent_p.E43E	p.E43E	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		2	322	+			43			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	c.129G>A	CCDS31833.1																																																																																				0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			51	138	0	0	0	0	51	138				
ERBB3	2065	broad.mit.edu	37	12	56481620	56481620	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:56481620T>C	ENST00000267101.3	+	6	1095	c.655T>C	c.(655-657)Ttt>Ctt	p.F219L	ERBB3_ENST00000415288.2_Missense_Mutation_p.F160L|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	219					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGGTCACTGCTTTGGGCCCAA	0.547																																						uc001sjh.2		NA																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(655-657)TTT>CTT		erbB-3 isoform 1 precursor							129.0	116.0	120.0					12																	56481620		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481620T>C	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.655T>C	12.37:g.56481620T>C	ENSP00000267101:p.Phe219Leu					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.F160L|ERBB3_uc001sji.2_5'Flank	p.F219L	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		6	848	+			219			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.655T>C	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	T	33	5.259398	0.95368	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	T;T	0.64438	-0.1;-0.1	5.69	5.69	0.88448	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000002	T	0.72269	0.3439	M	0.74467	2.265	0.80722	D	1	P	0.47910	0.902	P	0.52424	0.698	T	0.72459	-0.4287	10	0.36615	T	0.2	.	14.9293	0.70903	0.0:0.0:0.0:1.0	.	219	P21860	ERBB3_HUMAN	L	219;219;160	ENSP00000267101:F219L;ENSP00000408340:F160L	ENSP00000267101:F219L	F	+	1	0	ERBB3	54767887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.853000	0.55941	2.169000	0.68431	0.533000	0.62120	TTT		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			26	89	0	0	0	0	26	89				
CAND1	55832	broad.mit.edu	37	12	67706416	67706416	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:67706416G>C	ENST00000545606.1	+	15	3936	c.3499G>C	c.(3499-3501)Gaa>Caa	p.E1167Q		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1167					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GCAGGAGTTTGAAAAACAAGA	0.393																																						uc001stn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(3499-3501)GAA>CAA		TIP120 protein							65.0	58.0	60.0					12																	67706416		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67706416G>C		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.3499G>C	12.37:g.67706416G>C	ENSP00000442318:p.Glu1167Gln					CAND1_uc001sto.2_Missense_Mutation_p.E677Q	p.E1167Q	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	15	3936	+			1167			HEAT 27.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.3499G>C	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.778940	0.70107	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.73047	-0.71;-0.71	5.62	5.62	0.85841	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89273	0.6668	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.951;1.0	D	0.91727	0.5393	9	.	.	.	-18.3946	19.6558	0.95837	0.0:0.0:1.0:0.0	.	999;1167	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	Q	1167;1167;707	ENSP00000442318:E1167Q;ENSP00000444089:E707Q	.	E	+	1	0	CAND1	65992683	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.830000	0.99415	2.647000	0.89833	0.585000	0.79938	GAA		0.393	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		9	18	0	0	0	0	9	18				
LRRIQ1	84125	broad.mit.edu	37	12	85434273	85434273	+	Silent	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:85434273A>G	ENST00000393217.2	+	3	199	c.138A>G	c.(136-138)tcA>tcG	p.S46S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	46										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTAGGATTCAGTTGAATTAC	0.328																																						uc001tac.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(136-138)TCA>TCG		leucine-rich repeats and IQ motif containing 1							67.0	69.0	68.0					12																	85434273		2203	4288	6491	SO:0001819	synonymous_variant	84125							g.chr12:85434273A>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.138A>G	12.37:g.85434273A>G						LRRIQ1_uc001tab.1_Silent_p.S46S|LRRIQ1_uc001taa.1_Silent_p.S46S|LRRIQ1_uc001tad.2_5'UTR	p.S46S	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	3	249	+			46					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.138A>G	CCDS41816.1																																																																																				0.328	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		22	53	0	0	0	0	22	53				
STAB2	55576	broad.mit.edu	37	12	104063327	104063327	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:104063327G>A	ENST00000388887.2	+	21	2385	c.2181G>A	c.(2179-2181)aaG>aaA	p.K727K	RP11-341G23.3_ENST00000550175.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGATTCCAAAGTGCTGCAAAG	0.438																																						uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(2179-2181)AAG>AAA		stabilin 2 precursor							138.0	133.0	135.0					12																	104063327		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104063327G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2181G>A	12.37:g.104063327G>A							p.K727K	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			21	2367	+			727			Extracellular (Potential).			Silent	SNP	ENST00000388887.2	37	c.2181G>A	CCDS31888.1																																																																																				0.438	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			4	79	0	0	0	0	4	79				
HCFC2	29915	broad.mit.edu	37	12	104461751	104461751	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:104461751G>C	ENST00000229330.4	+	3	443	c.339G>C	c.(337-339)gtG>gtC	p.V113V		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	113					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGAAAAAAGTGAAACCCCATC	0.408																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	uc001tkj.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(337-339)GTG>GTC		host cell factor C2							240.0	232.0	235.0					12																	104461751		2203	4300	6503	SO:0001819	synonymous_variant	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104461751G>C	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.339G>C	12.37:g.104461751G>C						HCFC2_uc009zul.2_RNA	p.V113V	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN			3	442	+			113			Kelch 2.		B2R8Q5|C0H5X3	Silent	SNP	ENST00000229330.4	37	c.339G>C	CCDS9097.1																																																																																				0.408	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		53	119	0	0	0	0	53	119				
ACAD10	80724	broad.mit.edu	37	12	112183993	112183993	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:112183993G>C	ENST00000313698.4	+	14	2316	c.2161G>C	c.(2161-2163)Gag>Cag	p.E721Q	ACAD10_ENST00000455480.2_Missense_Mutation_p.E752Q|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.E323Q	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	721						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCTACCCTTAGAGGCTGATCC	0.468																																						uc001tsq.2		NA																	0				ovary(2)	2						c.(2161-2163)GAG>CAG		acyl-Coenzyme A dehydrogenase family, member 10							105.0	104.0	104.0					12																	112183993		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112183993G>C	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2161G>C	12.37:g.112183993G>C	ENSP00000325137:p.Glu721Gln					ACAD10_uc001tsp.2_Missense_Mutation_p.E721Q|ACAD10_uc009zvx.2_Missense_Mutation_p.E752Q|ACAD10_uc001tss.1_RNA	p.E721Q	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			14	2361	+			721					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2161G>C	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713720	0.48517	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000455480;ENST00000515283;ENST00000313698	D;D;D	0.96651	-4.08;-3.68;-3.68	5.1	4.2	0.49525	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.343622	0.26971	N	0.021573	D	0.97586	0.9209	M	0.87456	2.885	0.35439	D	0.7947	P;D;D	0.62365	0.845;0.991;0.96	P;D;P	0.63192	0.556;0.912;0.523	D	0.98498	1.0613	10	0.25751	T	0.34	.	12.2757	0.54733	0.0851:0.0:0.9149:0.0	.	752;721;721	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	Q	323;721;752;114;721	ENSP00000376411:E323Q;ENSP00000389813:E752Q;ENSP00000325137:E721Q	ENSP00000325137:E721Q	E	+	1	0	ACAD10	110668376	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.357000	0.52277	2.542000	0.85734	0.561000	0.74099	GAG		0.468	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		21	44	0	0	0	0	21	44				
KNTC1	9735	broad.mit.edu	37	12	123102942	123102942	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:123102942C>G	ENST00000333479.7	+	58	6260	c.6083C>G	c.(6082-6084)tCa>tGa	p.S2028*	KNTC1_ENST00000537348.1_3'UTR|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000534995.1_5'Flank|KNTC1_ENST00000450485.2_Nonsense_Mutation_p.S953*	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	2028					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCACTGCTTTCAGGTATTTCG	0.393																																						uc001ucv.2		NA																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(6082-6084)TCA>TGA		Rough Deal homolog, centromere/kinetochore							80.0	76.0	77.0					12																	123102942		1938	4147	6085	SO:0001587	stop_gained	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123102942C>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.6083C>G	12.37:g.123102942C>G	ENSP00000328236:p.Ser2028*					KNTC1_uc010taf.1_Nonsense_Mutation_p.S953*	p.S2028*	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	58	6246	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		2028					A7E2C4|B3KSG2	Nonsense_Mutation	SNP	ENST00000333479.7	37	c.6083C>G	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	C	46	12.599934	0.99681	.	.	ENSG00000184445	ENST00000450485;ENST00000333479;ENST00000546125	.	.	.	5.78	5.78	0.91487	.	0.131455	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.7891	19.6088	0.95594	0.0:1.0:0.0:0.0	.	.	.	.	X	953;2028;189	.	ENSP00000328236:S2028X	S	+	2	0	KNTC1	121668895	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.237000	0.58681	2.734000	0.93682	0.563000	0.77884	TCA		0.393	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			11	24	0	0	0	0	11	24				
HCAR1	27198	broad.mit.edu	37	12	123214171	123214171	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:123214171G>A	ENST00000436083.2	-	1	1219	c.716C>T	c.(715-717)gCt>gTt	p.A239V	HCAR1_ENST00000432564.1_Missense_Mutation_p.A239V|HCAR1_ENST00000356987.2_Missense_Mutation_p.A239V			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	239					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						ATAGAGTCTAGCAGACACGCT	0.572																																						uc001ucz.2		NA																	0					0						c.(715-717)GCT>GTT		G protein-coupled receptor 81							69.0	64.0	66.0					12																	123214171		2203	4300	6503	SO:0001583	missense	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214171G>A	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.716C>T	12.37:g.123214171G>A	ENSP00000409980:p.Ala239Val					GPR81_uc001ucw.1_RNA	p.A239V	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)	1	959	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		239			Helical; Name=6; (Potential).		B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	c.716C>T	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	G	6.056	0.378585	0.11466	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.70282	-0.47;-0.47;-0.47	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.158305	0.42294	D	0.000728	T	0.54447	0.1859	L	0.34521	1.04	0.41565	D	0.98865	B	0.18741	0.03	B	0.24701	0.055	T	0.47724	-0.9095	10	0.02654	T	1	-9.9685	10.0403	0.42153	0.0918:0.0:0.9082:0.0	.	239	Q9BXC0	HCAR1_HUMAN	V	239	ENSP00000349478:A239V;ENSP00000389255:A239V;ENSP00000409980:A239V	ENSP00000349478:A239V	A	-	2	0	HCAR1	121780124	0.946000	0.32159	0.559000	0.28332	0.414000	0.31173	2.181000	0.42547	2.474000	0.83562	0.655000	0.94253	GCT		0.572	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			23	45	0	0	0	0	23	45				
DDX55	57696	broad.mit.edu	37	12	124092179	124092179	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:124092179G>A	ENST00000238146.4	+	5	421	c.371G>A	c.(370-372)gGa>gAa	p.G124E	DDX55_ENST00000538744.1_Missense_Mutation_p.G124E	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	124	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		AGGAATCCTGGAGAAGATGTT	0.443																																						uc001ufi.2		NA																	0				ovary(1)	1						c.(370-372)GGA>GAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							360.0	328.0	339.0					12																	124092179		2203	4300	6503	SO:0001583	missense	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124092179G>A	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.371G>A	12.37:g.124092179G>A	ENSP00000238146:p.Gly124Glu					DDX55_uc001ufh.2_5'UTR|DDX55_uc001ufj.1_Intron|DDX55_uc001ufk.2_5'UTR	p.G124E	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	5	395	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		124			Helicase ATP-binding.		Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	ENST00000238146.4	37	c.371G>A	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976784	0.53720	.	.	ENSG00000111364	ENST00000238146;ENST00000538449;ENST00000538744	T;T	0.12984	2.63;2.63	5.69	1.41	0.22369	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.489617	0.22548	N	0.058635	T	0.03608	0.0103	N	0.01656	-0.775	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.43589	-0.9382	10	0.02654	T	1	-15.3571	9.7398	0.40411	0.0:0.4265:0.3132:0.2602	.	124	Q8NHQ9	DDX55_HUMAN	E	124	ENSP00000238146:G124E;ENSP00000443114:G124E	ENSP00000238146:G124E	G	+	2	0	DDX55	122658132	0.998000	0.40836	0.999000	0.59377	0.954000	0.61252	2.847000	0.48270	0.292000	0.22492	0.563000	0.77884	GGA		0.443	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			42	129	0	0	0	0	42	129				
IFT88	8100	broad.mit.edu	37	13	21172820	21172820	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:21172820G>T	ENST00000319980.6	+	12	979	c.652G>T	c.(652-654)Gtt>Ttt	p.V218F	IFT88_ENST00000382778.4_Missense_Mutation_p.V218F|IFT88_ENST00000351808.5_Missense_Mutation_p.V209F|IFT88_ENST00000537103.1_Missense_Mutation_p.V190F	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	218					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)		p.V218I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TCAGTATTCAGTTAATGAAAT	0.323																																						uc001unh.2		NA																	1	Substitution - Missense(1)		skin(1)	ovary(1)	1						c.(652-654)GTT>TTT		intraflagellar transport 88 homolog isoform 1							130.0	131.0	131.0					13																	21172820		2202	4292	6494	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21172820G>T	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.652G>T	13.37:g.21172820G>T	ENSP00000323580:p.Val218Phe					IFT88_uc001uni.2_Missense_Mutation_p.V209F|IFT88_uc001unj.2_Missense_Mutation_p.V208F|IFT88_uc010tcq.1_Missense_Mutation_p.V189F|IFT88_uc001unk.2_5'UTR	p.V218F	NM_175605	NP_783195	Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	12	1048	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	218			TPR 1.		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.652G>T	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224399	0.39300	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.76316	-0.93;-1.01;0.62;0.62	4.99	4.99	0.66335	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.252115	0.39274	N	0.001418	T	0.56717	0.2004	N	0.03608	-0.345	0.27313	N	0.95725	B;B	0.24533	0.002;0.105	B;B	0.22601	0.007;0.04	T	0.26950	-1.0088	10	0.10377	T	0.69	-8.8687	18.2653	0.90050	0.0:0.0:1.0:0.0	.	190;218	F5H6C2;Q13099	.;IFT88_HUMAN	F	218;115;209;218;190	ENSP00000372228:V218F;ENSP00000261632:V209F;ENSP00000323580:V218F;ENSP00000437719:V190F	ENSP00000323580:V218F	V	+	1	0	IFT88	20070820	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.650000	0.67944	2.319000	0.78375	0.591000	0.81541	GTT		0.323	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		9	81	1	0	2.81e-09	3.86e-09	9	81				
SLC7A1	6541	broad.mit.edu	37	13	30091803	30091803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:30091803C>T	ENST00000380752.5	-	10	1803	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	473					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GAGAACATCTCTGCCTCTGGT	0.453																																						uc001uso.2		NA																	0					0						c.(1417-1419)GAG>AAG		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						147.0	146.0	147.0					13																	30091803		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30091803C>T	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1417G>A	13.37:g.30091803C>T	ENSP00000370128:p.Glu473Lys						p.E473K	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	10	1804	-		Lung SC(185;0.0257)|Breast(139;0.238)	473			Cytoplasmic (Potential).		Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.1417G>A	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	C	7.948	0.744276	0.15710	.	.	ENSG00000139514	ENST00000380752	D	0.86297	-2.1	5.24	4.37	0.52481	.	0.436825	0.22147	N	0.063968	D	0.84257	0.5432	L	0.61218	1.895	0.25845	N	0.984009	B	0.22800	0.075	B	0.27608	0.081	T	0.69045	-0.5249	10	0.12430	T	0.62	.	13.3679	0.60696	0.0:0.8421:0.1578:0.0	.	473	P30825	CTR1_HUMAN	K	473	ENSP00000370128:E473K	ENSP00000370128:E473K	E	-	1	0	SLC7A1	28989803	0.043000	0.20138	0.033000	0.17914	0.026000	0.11368	1.240000	0.32731	1.308000	0.44962	0.655000	0.94253	GAG		0.453	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		10	88	0	0	0	0	10	88				
SERPINE3	647174	broad.mit.edu	37	13	51922447	51922447	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:51922447G>C	ENST00000521255.1	+	4	859	c.799G>C	c.(799-801)Gac>Cac	p.D267H	SERPINE3_ENST00000524365.1_Missense_Mutation_p.D267H|SERPINE3_ENST00000400389.4_Missense_Mutation_p.D267H|MIR5693_ENST00000577722.1_RNA	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	267					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						CCGTGACAAAGACACCCCCCT	0.612																																						uc001vfh.2		NA																	0				ovary(2)	2						c.(799-801)GAC>CAC		nexin-related serine protease inhibitor							60.0	80.0	73.0					13																	51922447		2119	4241	6360	SO:0001583	missense	647174				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr13:51922447G>C	AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"""Serine (or cysteine) peptidase inhibitors"""	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.799G>C	13.37:g.51922447G>C	ENSP00000428316:p.Asp267His					SERPINE3_uc010tgp.1_Missense_Mutation_p.D267H	p.D267H	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN			4	859	+			267					B1V8P3	Missense_Mutation	SNP	ENST00000521255.1	37	c.799G>C	CCDS53870.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456329	0.43634	.	.	ENSG00000253309	ENST00000524365;ENST00000521255;ENST00000400389	D;D;D	0.85013	-1.93;-1.93;-1.93	5.19	3.42	0.39159	Serpin domain (3);	0.468824	0.17876	U	0.159012	D	0.87775	0.6262	L	0.57536	1.79	0.09310	N	1	D;D	0.63880	0.989;0.993	P;D	0.66196	0.849;0.942	T	0.76908	-0.2785	10	0.37606	T	0.19	.	6.8346	0.23929	0.3265:0.0:0.6735:0.0	.	267;267	A8MV23-2;A8MV23	.;SERP3_HUMAN	H	267	ENSP00000430755:D267H;ENSP00000428316:D267H;ENSP00000441468:D267H	ENSP00000441468:D267H	D	+	1	0	SERPINE3	50820448	0.993000	0.37304	0.005000	0.12908	0.574000	0.36063	2.901000	0.48695	1.429000	0.47314	0.655000	0.94253	GAC		0.612	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		16	22	0	0	0	0	16	22				
MYCBP2	23077	broad.mit.edu	37	13	77667369	77667369	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:77667369G>A	ENST00000544440.2	-	59	10201	c.10184C>T	c.(10183-10185)tCa>tTa	p.S3395L	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3395L|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S3433L					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGGAGTTACTGATATATACGG	0.393																																						uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(10183-10185)TCA>TTA		MYC binding protein 2							176.0	168.0	171.0					13																	77667369		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77667369G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10184C>T	13.37:g.77667369G>A	ENSP00000444596:p.Ser3395Leu					MYCBP2_uc010aev.2_Missense_Mutation_p.S2799L|MYCBP2_uc001vke.2_Missense_Mutation_p.S15L	p.S3395L	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	60	10275	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3395						Missense_Mutation	SNP	ENST00000544440.2	37	c.10184C>T		.	.	.	.	.	.	.	.	.	.	G	26.3	4.719913	0.89205	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.33654	1.41;1.4;1.41	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000002	T	0.52677	0.1749	L	0.40543	1.245	0.80722	D	1	D	0.54601	0.967	D	0.63597	0.916	T	0.49862	-0.8894	10	0.62326	D	0.03	.	19.9535	0.97211	0.0:0.0:1.0:0.0	.	3395	O75592	MYCB2_HUMAN	L	3395;3433;3395	ENSP00000349892:S3395L;ENSP00000384288:S3433L;ENSP00000444596:S3395L	ENSP00000349892:S3395L	S	-	2	0	MYCBP2	76565370	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.473000	0.97714	2.710000	0.92621	0.557000	0.71058	TCA		0.393	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		5	80	0	0	0	0	5	80				
KDELC1	79070	broad.mit.edu	37	13	103450951	103450951	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:103450951C>G	ENST00000376004.4	-	1	406	c.70G>C	c.(70-72)Gaa>Caa	p.E24Q	BIVM_ENST00000257336.1_5'Flank|KDELC1_ENST00000460338.1_5'UTR|BIVM_ENST00000448849.2_5'Flank|BIVM_ENST00000419638.1_5'Flank	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	24						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGCTGCCTTTCTCCGCCGGTC	0.532																																						uc001vpq.3		NA																	0				ovary(1)	1						c.(70-72)GAA>CAA		KDEL (Lys-Asp-Glu-Leu) containing 1 precursor							58.0	58.0	58.0					13																	103450951		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103450951C>G	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.70G>C	13.37:g.103450951C>G	ENSP00000365172:p.Glu24Gln					KDELC1_uc001vpr.3_5'UTR|BIVM_uc001vps.2_5'Flank|BIVM_uc010agc.2_5'Flank	p.E24Q	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN			1	454	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		24			Filamin.		Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.70G>C	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255195	0.59321	.	.	ENSG00000134901	ENST00000376004	T	0.18174	2.23	5.32	5.32	0.75619	.	0.337336	0.31507	N	0.007528	T	0.17874	0.0429	L	0.56769	1.78	0.20926	N	0.999821	B	0.02656	0.0	B	0.04013	0.001	T	0.10064	-1.0646	10	0.22706	T	0.39	.	12.3684	0.55242	0.0:0.9222:0.0:0.0778	.	24	Q6UW63	KDEL1_HUMAN	Q	24	ENSP00000365172:E24Q	ENSP00000365172:E24Q	E	-	1	0	KDELC1	102248952	0.378000	0.25114	0.997000	0.53966	0.724000	0.41520	3.896000	0.56266	2.648000	0.89879	0.650000	0.86243	GAA		0.532	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			20	28	0	0	0	0	20	28				
TEX29	121793	broad.mit.edu	37	13	111996452	111996452	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:111996452C>T	ENST00000283547.1	+	6	567	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	146						integral component of membrane (GO:0016021)											TAACAGAAGCCGAAGAAACTG	0.383																																						uc001vsa.2		NA																	0					0						c.(436-438)GCC>GCT		hypothetical protein LOC121793							94.0	98.0	96.0					13																	111996452		2203	4300	6503	SO:0001819	synonymous_variant	121793					integral to membrane		g.chr13:111996452C>T	BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 16"""	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.438C>T	13.37:g.111996452C>T							p.A146A	NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188)		6	567	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		146			Cytoplasmic (Potential).			Silent	SNP	ENST00000283547.1	37	c.438C>T	CCDS9522.1																																																																																				0.383	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045812.2	NM_152324		17	27	0	0	0	0	17	27				
SOX1	6656	broad.mit.edu	37	13	112722212	112722212	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:112722212G>A	ENST00000330949.1	+	1	300	c.240G>A	c.(238-240)gaG>gaA	p.E80E		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	80					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		ACAACTCGGAGATCAGCAAGC	0.657																																						uc001vsb.1		NA																	0					0						c.(238-240)GAG>GAA		SRY (sex determining region Y)-box 1							45.0	49.0	47.0					13																	112722212		2203	4300	6503	SO:0001819	synonymous_variant	6656				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:112722212G>A		CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"""SRY (sex determining region Y)-boxes"""	11189	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 1"""	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.240G>A	13.37:g.112722212G>A							p.E80E	NM_005986	NP_005977	O00570	SOX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(48;0.132)	1	300	+	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)	80			HMG box.		Q5W0Q1	Silent	SNP	ENST00000330949.1	37	c.240G>A	CCDS9523.1																																																																																				0.657	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045817.3	NM_005986		22	23	0	0	0	0	22	23				
AJUBA	84962	broad.mit.edu	37	14	23444286	23444286	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:23444286G>A	ENST00000262713.2	-	5	1642	c.1267C>T	c.(1267-1269)Cat>Tat	p.H423Y	AJUBA_ENST00000361265.4_Missense_Mutation_p.H423Y|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_Missense_Mutation_p.H6Y	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	423	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CAGCCTGGATGATAGGACTTC	0.512																																						uc001whz.2		NA																	0					0						c.(1267-1269)CAT>TAT		ajuba isoform 1							105.0	99.0	101.0					14																	23444286		2203	4300	6503	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23444286G>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1267C>T	14.37:g.23444286G>A	ENSP00000262713:p.His423Tyr					JUB_uc001why.2_Missense_Mutation_p.H6Y	p.H423Y	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	5	1643	-	all_cancers(95;4.6e-05)		423			LIM zinc-binding 2.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.1267C>T	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152762	0.94645	.	.	ENSG00000129474	ENST00000262713;ENST00000397388;ENST00000361265;ENST00000553592;ENST00000556731;ENST00000553911	D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	6.17	6.17	0.99709	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98671	1.0688	10	0.87932	D	0	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	423	Q96IF1	JUB_HUMAN	Y	423;6;423;6;6;6	ENSP00000262713:H423Y;ENSP00000380543:H6Y;ENSP00000354491:H423Y;ENSP00000452369:H6Y;ENSP00000451649:H6Y;ENSP00000452325:H6Y	ENSP00000262713:H423Y	H	-	1	0	JUB	22514126	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.370000	0.97159	2.941000	0.99782	0.655000	0.94253	CAT		0.512	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			21	52	0	0	0	0	21	52				
CDH24	64403	broad.mit.edu	37	14	23518917	23518917	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:23518917C>G	ENST00000267383.5	-	10	1722	c.1630G>C	c.(1630-1632)Gat>Cat	p.D544H	CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Missense_Mutation_p.D506H|CDH24_ENST00000487137.2_Missense_Mutation_p.D506H|CDH24_ENST00000397359.3_Missense_Mutation_p.D544H			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	544	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCAACTTCATCTCTGTCCAGG	0.582																																						uc001wil.2		NA																	0				central_nervous_system(1)	1						c.(1630-1632)GAT>CAT		cadherin-like 24 isoform 1							62.0	54.0	57.0					14																	23518917		2203	4300	6503	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23518917C>G	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1630G>C	14.37:g.23518917C>G	ENSP00000267383:p.Asp544His					CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.D506H	p.D544H	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	11	1890	-	all_cancers(95;3.3e-05)		544			Cadherin 5.|Extracellular (Potential).		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.1630G>C	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211388	0.79240	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.7	4.7	0.59300	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.71022	0.3291	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78553	-0.2160	10	0.87932	D	0	.	16.5583	0.84512	0.0:1.0:0.0:0.0	.	506;544	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	H	544;506;506;544	ENSP00000380517:D544H;ENSP00000434821:D506H;ENSP00000452493:D506H;ENSP00000267383:D544H	ENSP00000267383:D544H	D	-	1	0	CDH24	22588757	0.609000	0.26975	1.000000	0.80357	0.962000	0.63368	2.692000	0.47018	2.448000	0.82819	0.555000	0.69702	GAT		0.582	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		8	16	0	0	0	0	8	16				
PRKD1	5587	broad.mit.edu	37	14	30046490	30046490	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:30046490T>A	ENST00000331968.5	-	18	2922	c.2693A>T	c.(2692-2694)gAa>gTa	p.E898V	PRKD1_ENST00000415220.2_Missense_Mutation_p.E906V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	898					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTCTGTTTCTTCAGTCTCAGG	0.493																																						uc001wqh.2		NA																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(2692-2694)GAA>GTA		protein kinase D1							133.0	112.0	119.0					14																	30046490		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30046490T>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2693A>T	14.37:g.30046490T>A	ENSP00000333568:p.Glu898Val						p.E898V	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	18	2874	-	Hepatocellular(127;0.0604)		898					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2693A>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.059857	0.55325	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.67523	-0.27;-0.27	6.03	6.03	0.97812	Protein kinase-like domain (1);	0.062026	0.64402	D	0.000012	T	0.63319	0.2501	L	0.46157	1.445	0.44402	D	0.997314	P	0.35433	0.501	B	0.35470	0.203	T	0.66364	-0.5942	10	0.72032	D	0.01	-29.362	16.5582	0.84512	0.0:0.0:0.0:1.0	.	898	Q15139	KPCD1_HUMAN	V	898;906	ENSP00000333568:E898V;ENSP00000390535:E906V	ENSP00000333568:E898V	E	-	2	0	PRKD1	29116241	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	4.022000	0.57203	2.308000	0.77769	0.533000	0.62120	GAA		0.493	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		13	79	0	0	0	0	13	79				
HEATR5A	25938	broad.mit.edu	37	14	31813139	31813139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:31813139C>T	ENST00000389961.3	-	20	3172	c.3173G>A	c.(3172-3174)cGa>cAa	p.R1058Q	HEATR5A_ENST00000439727.1_Missense_Mutation_p.R771Q|HEATR5A_ENST00000543095.2_Missense_Mutation_p.R1064Q|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1058Q|HEATR5A_ENST00000404677.3_Missense_Mutation_p.R1064Q			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1058										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)		GTTGACATGTCGTGGAGCAAA	0.428																																						uc001wrf.3		NA																	0				ovary(1)	1						c.(2311-2313)CGA>CAA		HEAT repeat containing 5A							89.0	97.0	94.0					14																	31813139		2191	4298	6489	SO:0001583	missense	25938						binding	g.chr14:31813139C>T	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.3173G>A	14.37:g.31813139C>T	ENSP00000374611:p.Arg1058Gln					HEATR5A_uc010ami.2_Missense_Mutation_p.R669Q|HEATR5A_uc001wrg.1_Missense_Mutation_p.R653Q|HEATR5A_uc010tpk.1_Missense_Mutation_p.R1064Q	p.R771Q	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)	15	2389	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1058					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.2312G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.19|19.19	3.779465|3.779465	0.70107|0.70107	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864;ENST00000549719|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.63096	.|-0.02;-0.02;-0.02;-0.02;-0.02	5.98|5.98	5.1|5.1	0.69264|0.69264	.|Armadillo-type fold (1);	.|0.219470	.|0.38058	.|N	.|0.001824	T|T	0.68476|0.68476	0.3005|0.3005	M|M	0.64404|0.64404	1.975|1.975	0.43110|0.43110	D|D	0.994816|0.994816	.|D;P;B	.|0.63880	.|0.993;0.508;0.057	.|P;B;B	.|0.53062	.|0.717;0.105;0.069	T|T	0.72427|0.72427	-0.4297|-0.4297	5|10	.|0.66056	.|D	.|0.02	.|.	11.4604|11.4604	0.50206|0.50206	0.0:0.863:0.0:0.137|0.0:0.863:0.0:0.137	.|.	.|1064;1058;1058	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	N|Q	692;83|1058;1058;771;1064;1064	.|ENSP00000374611:R1058Q;ENSP00000405407:R1058Q;ENSP00000408681:R771Q;ENSP00000437968:R1064Q;ENSP00000384646:R1064Q	.|ENSP00000374611:R1058Q	D|R	-|-	1|2	0|0	HEATR5A|HEATR5A	30882890|30882890	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.993000|0.993000	0.82548|0.82548	3.321000|3.321000	0.51999|0.51999	1.542000|1.542000	0.49330|0.49330	-0.143000|-0.143000	0.13931|0.13931	GAC|CGA		0.428	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		16	46	0	0	0	0	16	46				
ATP6V1D	51382	broad.mit.edu	37	14	67815782	67815782	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:67815782C>G	ENST00000216442.7	-	4	829	c.279G>C	c.(277-279)aaG>aaC	p.K93N	ATP6V1D_ENST00000555431.1_Missense_Mutation_p.K38N|ATP6V1D_ENST00000555474.1_Intron|ATP6V1D_ENST00000554236.1_Missense_Mutation_p.K93N	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	93					cellular iron ion homeostasis (GO:0006879)|cilium assembly (GO:0042384)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|protein localization to cilium (GO:0061512)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		TCGCTCGAATCTTCACTTGCG	0.368																																						uc001xjf.2		NA																	0				ovary(1)|lung(1)	2						c.(277-279)AAG>AAC		H(+)-transporting two-sector ATPase							120.0	106.0	111.0					14																	67815782		2202	4300	6502	SO:0001583	missense	51382				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr14:67815782C>G	AF145316	CCDS9780.1	14q23-q24.2	2010-04-21	2002-08-29	2002-05-10	ENSG00000100554	ENSG00000100554		"""ATPases / V-type"""	13527	protein-coding gene	gene with protein product		609398	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"""	ATP6M		9442887	Standard	NM_015994		Approved	VATD, VMA8	uc001xjf.3	Q9Y5K8		ENST00000216442.7:c.279G>C	14.37:g.67815782C>G	ENSP00000216442:p.Lys93Asn					ATP6V1D_uc001xje.2_RNA	p.K93N	NM_015994	NP_057078	Q9Y5K8	VATD_HUMAN		all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)	4	455	-			93					B2RE33|Q9Y688	Missense_Mutation	SNP	ENST00000216442.7	37	c.279G>C	CCDS9780.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153429	0.78114	.	.	ENSG00000100554	ENST00000553408;ENST00000216442;ENST00000555431;ENST00000554236;ENST00000555723	.	.	.	6.17	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.74129	0.3676	M	0.88450	2.955	0.80722	D	1	P	0.41188	0.741	P	0.48334	0.574	T	0.78430	-0.2207	9	0.87932	D	0	-30.8137	10.8215	0.46608	0.0:0.8504:0.0:0.1496	.	93	Q9Y5K8	VATD_HUMAN	N	33;93;38;93;45	.	ENSP00000216442:K93N	K	-	3	2	ATP6V1D	66885535	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.998000	0.49465	1.534000	0.49203	-0.345000	0.07892	AAG		0.368	ATP6V1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412511.1	NM_015994		13	26	0	0	0	0	13	26				
PLEKHH1	57475	broad.mit.edu	37	14	68022580	68022580	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:68022580G>C	ENST00000329153.5	+	3	297	c.165G>C	c.(163-165)caG>caC	p.Q55H		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	55						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGGCAGAGCAGAGAGCAGAGA	0.607																																						uc001xjl.1		NA																	0					0						c.(163-165)CAG>CAC		pleckstrin homology domain containing, family H							39.0	45.0	43.0					14																	68022580		2140	4266	6406	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68022580G>C	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.165G>C	14.37:g.68022580G>C	ENSP00000330278:p.Gln55His						p.Q55H	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	3	307	+			55			Potential.		A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.165G>C	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176160	0.38413	.	.	ENSG00000054690	ENST00000329153	T	0.33865	1.39	4.44	3.47	0.39725	.	0.119080	0.64402	D	0.000016	T	0.27663	0.0680	L	0.39397	1.21	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.07102	-1.0790	10	0.33940	T	0.23	.	10.3414	0.43879	0.0:0.2789:0.7211:0.0	.	55	Q9ULM0	PKHH1_HUMAN	H	55	ENSP00000330278:Q55H	ENSP00000330278:Q55H	Q	+	3	2	PLEKHH1	67092333	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.495000	0.53280	2.476000	0.83614	0.655000	0.94253	CAG		0.607	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		4	23	0	0	0	0	4	23				
ATXN3	4287	broad.mit.edu	37	14	92549555	92549555	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:92549555C>T	ENST00000532032.1	-	7	532	c.523G>A	c.(523-525)Gac>Aac	p.D175N	ATXN3_ENST00000545170.1_Missense_Mutation_p.D175N|ATXN3_ENST00000429774.2_Missense_Mutation_p.D160N|ATXN3_ENST00000340660.6_Missense_Mutation_p.D120N|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000502250.1_5'UTR|ATXN3_ENST00000503767.1_Missense_Mutation_p.D160N|ATXN3_ENST00000393287.5_Missense_Mutation_p.D175N			P54252	ATX3_HUMAN	ataxin 3	175	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AGGAGTTGGTCAGCTTCGCAA	0.373																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	uc001yac.3		NA																	0					0						c.(523-525)GAC>AAC		ataxin 3 reference isoform							136.0	126.0	129.0					14																	92549555		2203	4300	6503	SO:0001583	missense	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92549555C>T	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.523G>A	14.37:g.92549555C>T	ENSP00000437157:p.Asp175Asn					ATXN3_uc010aug.2_Missense_Mutation_p.D160N|ATXN3_uc001yad.3_Missense_Mutation_p.D120N|ATXN3_uc010auh.2_Missense_Mutation_p.D109N|ATXN3_uc001yae.3_Missense_Mutation_p.D77N|ATXN3_uc010twl.1_RNA	p.D175N	NM_004993	NP_004984	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	7	592	-		all_cancers(154;0.0768)	175			Josephin.		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Missense_Mutation	SNP	ENST00000532032.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	C	25.7	4.661361	0.88154	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000503767;ENST00000340660;ENST00000532032;ENST00000555381;ENST00000554592;ENST00000554672;ENST00000553491;ENST00000556220;ENST00000506466	T;T;T;T;T;T;T;T;T;T;T;T	0.51071	1.77;1.83;1.79;1.81;1.43;1.45;1.08;1.54;1.01;0.92;0.72;1.01	5.41	5.41	0.78517	.	0.093855	0.64402	D	0.000001	T	0.69424	0.3109	M	0.83603	2.65	0.80722	D	1	P;P;P;P;B	0.45396	0.857;0.644;0.727;0.766;0.207	P;P;P;P;P	0.56700	0.642;0.642;0.804;0.73;0.612	T	0.72843	-0.4170	10	0.62326	D	0.03	.	19.2455	0.93901	0.0:1.0:0.0:0.0	.	175;160;175;120;175	P54252;E9PB63;F5H096;P54252-3;P54252-2	ATX3_HUMAN;.;.;.;.	N	175;175;175;175;175;175;175;160;174;175;160;120;175;105;174;77;124;69;109	ENSP00000445618:D175N;ENSP00000389376:D160N;ENSP00000376965:D175N;ENSP00000426697:D160N;ENSP00000339110:D120N;ENSP00000437157:D175N;ENSP00000451001:D105N;ENSP00000451385:D174N;ENSP00000451417:D77N;ENSP00000451996:D124N;ENSP00000450641:D69N;ENSP00000435571:D109N	ENSP00000339110:D120N	D	-	1	0	ATXN3	91619308	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.917000	0.75782	2.568000	0.86640	0.478000	0.44815	GAC		0.373	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		42	61	0	0	0	0	42	61				
LGMN	5641	broad.mit.edu	37	14	93199105	93199105	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:93199105G>A	ENST00000393218.2	-	3	364	c.27C>T	c.(25-27)ctC>ctT	p.L9L	LGMN_ENST00000334869.4_Silent_p.L9L|LGMN_ENST00000555699.1_Silent_p.L9L|LGMN_ENST00000557434.1_Silent_p.L9L	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	9					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GGGCCACACTGAGGAATACAG	0.478																																						uc001yav.2		NA																	0				skin(1)	1						c.(25-27)CTC>CTT		legumain preproprotein							128.0	101.0	110.0					14																	93199105		2203	4300	6503	SO:0001819	synonymous_variant	5641				hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	g.chr14:93199105G>A	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"""protease, cysteine, 1 (legumain)"""	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.27C>T	14.37:g.93199105G>A						LGMN_uc001yat.2_Silent_p.L9L|LGMN_uc001yau.2_Silent_p.L9L|LGMN_uc001yaw.2_Silent_p.L9L|LGMN_uc010aul.2_5'UTR|LGMN_uc001yax.2_Silent_p.L9L|LGMN_uc001yay.2_Silent_p.L9L	p.L9L	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	3	353	-		all_cancers(154;0.0706)	9					O00123|Q86TV2|Q86TV3|Q9BTY1	Silent	SNP	ENST00000393218.2	37	c.27C>T	CCDS9904.1																																																																																				0.478	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		22	65	0	0	0	0	22	65				
UNC79	57578	broad.mit.edu	37	14	94083611	94083611	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:94083611G>A	ENST00000393151.2	+	28	4185	c.4185G>A	c.(4183-4185)cgG>cgA	p.R1395R	UNC79_ENST00000555664.1_Silent_p.R1395R|UNC79_ENST00000553484.1_Silent_p.R1417R|UNC79_ENST00000256339.4_Silent_p.R1218R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1395					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCACATCCGGCAGATGTGGT	0.498																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(3718-3720)CGG>CGA		hypothetical protein LOC57578							88.0	83.0	85.0					14																	94083611		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94083611G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4185G>A	14.37:g.94083611G>A						KIAA1409_uc001ybs.1_Silent_p.R1218R	p.R1240R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	26	3803	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1395					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.3720G>A																																																																																					0.498	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		8	92	0	0	0	0	8	92				
MAGEL2	54551	broad.mit.edu	37	15	23890608	23890608	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:23890608G>T	ENST00000532292.1	-	1	567	c.473C>A	c.(472-474)gCa>gAa	p.A158E		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	41					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGCTGACACTGCCTTGGGAGC	0.612																																						uc001ywj.3		NA																	0					0						c.(472-474)GCA>GAA		MAGE-like protein 2							39.0	43.0	41.0					15																	23890608		1987	4162	6149	SO:0001583	missense	54551							g.chr15:23890608G>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.473C>A	15.37:g.23890608G>T	ENSP00000433433:p.Ala158Glu						p.A158E	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	568	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.473C>A		.	.	.	.	.	.	.	.	.	.	G	16.78	3.217364	0.58560	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.08	3.13	0.36017	.	.	.	.	.	T	0.31482	0.0798	N	0.19112	0.55	0.09310	N	0.999993	.	.	.	.	.	.	T	0.20207	-1.0282	5	.	.	.	.	11.7621	0.51910	0.0:0.188:0.812:0.0	.	.	.	.	K	190	.	.	Q	-	1	0	MAGEL2	21441701	0.000000	0.05858	0.230000	0.23976	0.774000	0.43823	-0.010000	0.12743	1.246000	0.43901	0.655000	0.94253	CAG		0.612	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		4	40	1	0	0.00024832	0.000331919	4	40				
DISP2	85455	broad.mit.edu	37	15	40662125	40662125	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:40662125C>T	ENST00000267889.3	+	8	3899	c.3812C>T	c.(3811-3813)cCt>cTt	p.P1271L	LINC00594_ENST00000561261.1_lincRNA|RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1271					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCCACTCTCCTAAGGCCAAG	0.647																																						uc001zlk.1		NA																	0				ovary(2)	2						c.(3811-3813)CCT>CTT		dispatched B							35.0	35.0	35.0					15																	40662125		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40662125C>T	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3812C>T	15.37:g.40662125C>T	ENSP00000267889:p.Pro1271Leu						p.P1271L	NM_033510	NP_277045	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	3901	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	1271					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.3812C>T	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330574	0.24167	.	.	ENSG00000140323	ENST00000267889	T	0.11495	2.77	5.2	5.2	0.72013	.	0.411843	0.25296	N	0.031694	T	0.15478	0.0373	N	0.24115	0.695	0.58432	D	0.999999	D	0.53462	0.96	P	0.51229	0.663	T	0.01409	-1.1362	10	0.87932	D	0	-32.0909	18.9211	0.92525	0.0:1.0:0.0:0.0	.	1271	A7MBM2	DISP2_HUMAN	L	1271	ENSP00000267889:P1271L	ENSP00000267889:P1271L	P	+	2	0	DISP2	38449417	0.030000	0.19436	0.517000	0.27799	0.077000	0.17291	0.936000	0.28938	2.706000	0.92434	0.561000	0.74099	CCT		0.647	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		15	42	0	0	0	0	15	42				
LTK	4058	broad.mit.edu	37	15	41804949	41804949	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:41804949C>T	ENST00000263800.6	-	3	411	c.315G>A	c.(313-315)ctG>ctA	p.L105L	LTK_ENST00000453182.2_Silent_p.L105L|LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Silent_p.L105L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	105					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCACGCCTCTCAGCTGCCCGG	0.697										TSP Lung(18;0.14)																												uc001zoa.3		NA																	0				lung(6)|central_nervous_system(1)	7						c.(313-315)CTG>CTA		leukocyte receptor tyrosine kinase isoform 1							11.0	12.0	12.0					15																	41804949		2184	4274	6458	SO:0001819	synonymous_variant	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41804949C>T	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.315G>A	15.37:g.41804949C>T		TSP Lung(18;0.14)				LTK_uc001zob.3_Silent_p.L105L|LTK_uc010ucx.1_Silent_p.L105L|LTK_uc010bcg.2_Intron	p.L105L	NM_002344	NP_002335	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	3	493	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	105			Extracellular (Potential).		A6NNJ8|B4DL89|E9PFX4	Silent	SNP	ENST00000263800.6	37	c.315G>A	CCDS10077.1																																																																																				0.697	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			7	15	0	0	0	0	7	15				
ANKDD1A	348094	broad.mit.edu	37	15	65219178	65219178	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:65219178G>C	ENST00000380230.3	+	6	579	c.550G>C	c.(550-552)Gac>Cac	p.D184H	ANKDD1A_ENST00000357698.3_Missense_Mutation_p.D184H|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.D93H|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.D93H|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.D184H|ANKDD1A_ENST00000491145.1_3'UTR	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	184					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CTCTGGCTGTGACCACAATGT	0.617																																						uc002aoa.2		NA																	0				ovary(1)	1						c.(550-552)GAC>CAC		ankyrin repeat and death domain containing 1A							124.0	104.0	111.0					15																	65219178		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65219178G>C		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.550G>C	15.37:g.65219178G>C	ENSP00000369579:p.Asp184His					ANKDD1A_uc002anx.1_Missense_Mutation_p.D180H|ANKDD1A_uc002any.2_Missense_Mutation_p.D93H|ANKDD1A_uc002anz.2_Missense_Mutation_p.D93H|ANKDD1A_uc002aob.2_Intron|ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.D93H	p.D184H	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN			6	579	+			184			ANK 5.		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.550G>C	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531611	0.45073	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000496660;ENST00000395723	T;T;T;T;T	0.75704	-0.39;-0.39;-0.39;-0.96;-0.39	4.23	4.23	0.50019	Ankyrin repeat-containing domain (4);	0.479249	0.17992	N	0.155175	D	0.83995	0.5375	M	0.78049	2.395	0.80722	D	1	D;P;D;D	0.67145	0.996;0.952;0.985;0.995	D;P;P;P	0.66602	0.945;0.907;0.821;0.908	D	0.84097	0.0393	10	0.48119	T	0.1	-24.9014	12.2937	0.54833	0.0:0.0:1.0:0.0	.	184;90;184;184	Q495B1;A4QMR4;Q495B1-2;Q495B1-1	AKD1A_HUMAN;.;.;.	H	184;184;184;93;93	ENSP00000369579:D184H;ENSP00000350329:D184H;ENSP00000379070:D184H;ENSP00000420999:D93H;ENSP00000379073:D93H	ENSP00000350329:D184H	D	+	1	0	ANKDD1A	63006231	0.999000	0.42202	1.000000	0.80357	0.980000	0.70556	1.514000	0.35834	2.363000	0.80096	0.561000	0.74099	GAC		0.617	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		4	81	0	0	0	0	4	81				
MTFMT	123263	broad.mit.edu	37	15	65319319	65319319	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:65319319G>C	ENST00000220058.4	-	2	282	c.269C>G	c.(268-270)tCa>tGa	p.S90*	MTFMT_ENST00000561025.1_5'Flank	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	90						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	TCCTTTTGGTGATGGGGAAGG	0.443																																						uc002aof.3		NA																	0				ovary(2)	2						c.(268-270)TCA>TGA		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)						92.0	84.0	87.0					15																	65319319		1984	4174	6158	SO:0001587	stop_gained	123263					mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	g.chr15:65319319G>C	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.269C>G	15.37:g.65319319G>C	ENSP00000220058:p.Ser90*						p.S90*	NM_139242	NP_640335	Q96DP5	FMT_HUMAN			2	295	-			90					B7Z734	Nonsense_Mutation	SNP	ENST00000220058.4	37	c.269C>G	CCDS45280.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541006	0.65085	.	.	ENSG00000103707	ENST00000220058;ENST00000543678	.	.	.	5.08	5.08	0.68730	.	0.070090	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-14.3831	7.873	0.29578	0.1771:0.0:0.8229:0.0	.	.	.	.	X	90	.	ENSP00000220058:S90X	S	-	2	0	MTFMT	63106372	0.373000	0.25073	0.103000	0.21229	0.577000	0.36160	1.621000	0.36986	2.346000	0.79739	0.591000	0.81541	TCA		0.443	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		12	43	0	0	0	0	12	43				
GOLGA6A	342096	broad.mit.edu	37	15	74372982	74372982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:74372982G>C	ENST00000290438.3	-	2	219	c.179C>G	c.(178-180)tCc>tGc	p.S60C		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	60						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GCAACCACCGGAAGTGGTTGT	0.527																																						uc002axa.1		NA																	0					0						c.(178-180)TCC>TGC		golgi autoantigen, golgin subfamily a, 6							37.0	34.0	35.0					15																	74372982		2196	4278	6474	SO:0001583	missense	342096							g.chr15:74372982G>C	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.179C>G	15.37:g.74372982G>C	ENSP00000290438:p.Ser60Cys						p.S60C	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN			2	220	-			60			Potential.		A8K959|Q9NYA7	Missense_Mutation	SNP	ENST00000290438.3	37	c.179C>G	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	g	7.706	0.694122	0.15039	.	.	ENSG00000159289	ENST00000290438	T	0.16597	2.33	1.59	1.59	0.23543	.	.	.	.	.	T	0.32615	0.0835	M	0.82056	2.57	0.09310	N	1	D	0.71674	0.998	P	0.54238	0.746	T	0.09618	-1.0666	9	0.62326	D	0.03	.	9.1586	0.37007	0.0:0.0:1.0:0.0	.	60	Q9NYA3	GOG6A_HUMAN	C	60	ENSP00000290438:S60C	ENSP00000290438:S60C	S	-	2	0	GOLGA6A	72160035	0.001000	0.12720	0.045000	0.18777	0.080000	0.17528	0.531000	0.23052	1.193000	0.43086	0.187000	0.17357	TCC		0.527	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		18	136	0	0	0	0	18	136				
WDR90	197335	broad.mit.edu	37	16	712044	712044	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:712044G>A	ENST00000293879.4	+	32	4018	c.4018G>A	c.(4018-4020)Gat>Aat	p.D1340N	WDR90_ENST00000549091.1_Missense_Mutation_p.D1340N			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1340										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGGGAGGCGGATGACGGTGG	0.652																																						uc002cii.1		NA																	0				ovary(1)	1						c.(4018-4020)GAT>AAT		WD repeat domain 90							36.0	41.0	39.0					16																	712044		2085	4198	6283	SO:0001583	missense	197335							g.chr16:712044G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4018G>A	16.37:g.712044G>A	ENSP00000293879:p.Asp1340Asn					WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.D867N|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.D514N|WDR90_uc002cin.1_5'UTR|WDR90_uc010uul.1_5'Flank|WDR90_uc002cio.1_5'Flank|WDR90_uc010bqx.1_5'Flank	p.D1340N	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			32	4072	+		Hepatocellular(780;0.0218)	1340			WD 16.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.4018G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982397	0.74474	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.29655	1.56;3.55	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.067244	0.56097	U	0.000028	T	0.60248	0.2254	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.989	T	0.63954	-0.6520	10	0.49607	T	0.09	.	17.6797	0.88239	0.0:0.0:1.0:0.0	.	1340;1340	F8VUX9;Q96KV7	.;WDR90_HUMAN	N	1340	ENSP00000448122:D1340N;ENSP00000293879:D1340N	ENSP00000293879:D1340N	D	+	1	0	WDR90	652045	1.000000	0.71417	0.056000	0.19401	0.044000	0.14063	9.152000	0.94680	2.413000	0.81919	0.561000	0.74099	GAT		0.652	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		10	30	0	0	0	0	10	30				
C1QTNF8	390664	broad.mit.edu	37	16	1143809	1143809	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:1143809G>A	ENST00000328449.5	-	4	724	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	151	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				CCCGCGGCCAGGTCGAAGGCG	0.667																																						uc010uuw.1		NA																	0				skin(1)	1						c.(451-453)CTG>TTG		C1q and tumor necrosis factor related protein 8							33.0	37.0	36.0					16																	1143809		2195	4292	6487	SO:0001819	synonymous_variant	390664					collagen		g.chr16:1143809G>A	AY358832	CCDS32358.1	16p13.3	2014-08-12			ENSG00000184471	ENSG00000184471			31374	protein-coding gene	gene with protein product		614147				12975309	Standard	NM_207419		Approved	UNQ5829, CTRP8	uc010uuw.1	P60827	OTTHUMG00000167756	ENST00000328449.5:c.451C>T	16.37:g.1143809G>A							p.L151L	NM_207419	NP_997302	P60827	C1QT8_HUMAN			4	725	-		Hepatocellular(780;0.00369)	151			C1q.		B7U178	Silent	SNP	ENST00000328449.5	37	c.451C>T	CCDS32358.1																																																																																				0.667	C1QTNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396120.1	XM_372606		4	48	0	0	0	0	4	48				
CASKIN1	57524	broad.mit.edu	37	16	2234836	2234836	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:2234836G>A	ENST00000343516.6	-	14	1450	c.1358C>T	c.(1357-1359)gCc>gTc	p.A453V	CASKIN1_ENST00000564289.1_5'UTR	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	453	CASK-binding. {ECO:0000250}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GACCTGCCCGGCGTGGGCCAC	0.687																																						uc010bsg.1		NA																	0				skin(2)	2						c.(1357-1359)GCC>GTC		CASK interacting protein 1							19.0	25.0	23.0					16																	2234836		2015	4165	6180	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2234836G>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1358C>T	16.37:g.2234836G>A	ENSP00000345436:p.Ala453Val						p.A453V	NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN			14	1390	-			453			CASK-binding (By similarity).		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.1358C>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	G	3.309	-0.141193	0.06669	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.66995	-0.24	4.68	2.5	0.30297	.	.	.	.	.	T	0.53190	0.1781	L	0.51422	1.61	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.35599	-0.9782	9	0.18276	T	0.48	-0.0027	3.9288	0.09275	0.0885:0.1644:0.5772:0.1699	.	453	Q8WXD9	CSKI1_HUMAN	V	453;282	ENSP00000345436:A453V	ENSP00000345436:A453V	A	-	2	0	CASKIN1	2174837	0.049000	0.20398	0.001000	0.08648	0.001000	0.01503	2.937000	0.48979	0.916000	0.36871	0.561000	0.74099	GCC		0.687	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		7	29	0	0	0	0	7	29				
SLX4	84464	broad.mit.edu	37	16	3639184	3639184	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:3639184C>T	ENST00000294008.3	-	12	5095	c.4455G>A	c.(4453-4455)caG>caA	p.Q1485Q		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1485	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCAATTTCCTCTGGGTAGTGC	0.647								Direct reversal of damage																														uc002cvp.2		NA																	0					0						c.(4453-4455)CAG>CAA	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							97.0	113.0	107.0					16																	3639184		2197	4300	6497	SO:0001819	synonymous_variant	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3639184C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4455G>A	16.37:g.3639184C>T							p.Q1485Q	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			12	5082	-			1485			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.4455G>A	CCDS10506.2																																																																																				0.647	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		69	139	0	0	0	0	69	139				
UBN1	29855	broad.mit.edu	37	16	4924969	4924969	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:4924969G>A	ENST00000396658.4	+	14	3261	c.2558G>A	c.(2557-2559)gGc>gAc	p.G853D	UBN1_ENST00000262376.6_Missense_Mutation_p.G853D|UBN1_ENST00000545171.1_Missense_Mutation_p.G853D|UBN1_ENST00000590769.1_Missense_Mutation_p.G853D	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	853					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAAGGCCAGGGCTTCCATCCC	0.592																																						uc002cyb.2		NA																	0				skin(2)	2						c.(2557-2559)GGC>GAC		ubinuclein 1							56.0	57.0	57.0					16																	4924969		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924969G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2558G>A	16.37:g.4924969G>A	ENSP00000379894:p.Gly853Asp					UBN1_uc010uxw.1_Missense_Mutation_p.G853D|UBN1_uc002cyc.2_Missense_Mutation_p.G853D	p.G853D	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			15	2897	+			853					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.2558G>A	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293243	0.40594	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.44083	1.52;0.93;1.52	5.3	2.18	0.27775	.	0.717361	0.14161	N	0.337399	T	0.25044	0.0608	N	0.19112	0.55	0.24034	N	0.996101	B;B	0.26845	0.161;0.017	B;B	0.27380	0.079;0.021	T	0.23368	-1.0190	10	0.15066	T	0.55	0.3805	9.152	0.36969	0.0754:0.2729:0.6517:0.0	.	853;853	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	D	853	ENSP00000262376:G853D;ENSP00000442379:G853D;ENSP00000379894:G853D	ENSP00000262376:G853D	G	+	2	0	UBN1	4864970	1.000000	0.71417	0.937000	0.37676	0.988000	0.76386	1.946000	0.40283	0.342000	0.23796	0.563000	0.77884	GGC		0.592	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		5	84	0	0	0	0	5	84				
ERCC4	2072	broad.mit.edu	37	16	14015908	14015908	+	Silent	SNP	G	G	A	rs61760162		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:14015908G>A	ENST00000311895.7	+	2	237	c.228G>A	c.(226-228)ctG>ctA	p.L76L	ERCC4_ENST00000575156.1_Silent_p.L76L	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	76	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TCAATCAGCTGAAGATAGAAG	0.353			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002dce.2		NA	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(226-228)CTG>CTA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent		G		0,4394		0,0,2197	75.0	66.0	69.0		228	2.3	1.0	16	dbSNP_129	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ERCC4	NM_005236.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		76/917	14015908	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	2072	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14015908G>A	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.228G>A	16.37:g.14015908G>A						ERCC4_uc010bva.2_Silent_p.L76L	p.L76L	NM_005236	NP_005227	Q92889	XPF_HUMAN			2	237	+			76					A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	ENST00000311895.7	37	c.228G>A	CCDS32390.1																																																																																				0.353	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		5	17	0	0	0	0	5	17				
C16orf45	89927	broad.mit.edu	37	16	15661909	15661909	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:15661909C>T	ENST00000300006.4	+	3	659	c.300C>T	c.(298-300)atC>atT	p.I100I	C16orf45_ENST00000561692.1_Silent_p.I52I|C16orf45_ENST00000566490.1_Silent_p.I100I|C16orf45_ENST00000452191.2_Silent_p.I83I	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	100										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TGGTCGCCATCCCAGGTAACC	0.552																																						uc002ddo.2		NA																	0				ovary(1)	1						c.(298-300)ATC>ATT		hypothetical protein LOC89927 isoform 1							102.0	83.0	89.0					16																	15661909		2197	4300	6497	SO:0001819	synonymous_variant	89927							g.chr16:15661909C>T	AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.300C>T	16.37:g.15661909C>T						C16orf45_uc002ddp.2_Silent_p.I83I	p.I100I	NM_033201	NP_149978	Q96MC5	CP045_HUMAN			3	486	+			100					O00223|O75769|Q8IZ36|Q96H25	Silent	SNP	ENST00000300006.4	37	c.300C>T	CCDS10561.1																																																																																				0.552	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201		6	14	0	0	0	0	6	14				
CD19	930	broad.mit.edu	37	16	28944612	28944612	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:28944612C>G	ENST00000324662.3	+	4	661	c.617C>G	c.(616-618)tCt>tGt	p.S206C	CD19_ENST00000538922.1_Missense_Mutation_p.S206C|CD19_ENST00000567541.1_Missense_Mutation_p.S206C			P15391	CD19_HUMAN	CD19 molecule	206	Ig-like C2-type 2.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCCCCTGACTCTGTGTCCAGG	0.612																																						uc002drs.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(616-618)TCT>TGT		CD19 antigen precursor							52.0	52.0	52.0					16																	28944612		2197	4300	6497	SO:0001583	missense	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28944612C>G		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.617C>G	16.37:g.28944612C>G	ENSP00000313419:p.Ser206Cys					uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.S206C	p.S206C	NM_001770	NP_001761	P15391	CD19_HUMAN			4	679	+			206			Extracellular (Potential).|Ig-like C2-type 2.		A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	c.617C>G	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921777	0.52653	.	.	ENSG00000177455	ENST00000538922;ENST00000324662;ENST00000537306	T;T	0.40225	1.04;1.04	4.52	2.48	0.30137	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.721060	0.12248	N	0.485911	T	0.43299	0.1241	L	0.54323	1.7	0.09310	N	1	D;D	0.61697	0.99;0.983	P;B	0.50192	0.634;0.431	T	0.24190	-1.0167	10	0.51188	T	0.08	-0.0126	5.7804	0.18304	0.1902:0.7065:0.0:0.1033	.	206;206	F5H635;P15391	.;CD19_HUMAN	C	206;206;55	ENSP00000437940:S206C;ENSP00000313419:S206C	ENSP00000313419:S206C	S	+	2	0	CD19	28852113	0.000000	0.05858	0.000000	0.03702	0.936000	0.57629	0.630000	0.24553	0.413000	0.25759	0.313000	0.20887	TCT		0.612	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			14	25	0	0	0	0	14	25				
ZNF646	9726	broad.mit.edu	37	16	31092645	31092645	+	Missense_Mutation	SNP	C	C	T	rs80281572	byFrequency	TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:31092645C>T	ENST00000394979.2	+	1	5423	c.5000C>T	c.(4999-5001)tCc>tTc	p.S1667F	ZNF646_ENST00000300850.5_Missense_Mutation_p.S1667F			O15015	ZN646_HUMAN	zinc finger protein 646	1667					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCGGTGACGTCCATGGCGGCT	0.662																																						uc002eap.2		NA																	0				breast(2)	2						c.(4999-5001)TCC>TTC		zinc finger protein 646							67.0	77.0	74.0					16																	31092645		2197	4299	6496	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31092645C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.5000C>T	16.37:g.31092645C>T	ENSP00000378429:p.Ser1667Phe						p.S1667F	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	5289	+			1667					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.5000C>T		.	.	.	.	.	.	.	.	.	.	C	1.739	-0.492188	0.04322	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08984	3.03;3.06	5.58	-0.123	0.13527	.	.	.	.	.	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42327	-0.9458	9	0.36615	T	0.2	-4.5938	5.6022	0.17359	0.0:0.5333:0.1366:0.3301	.	1667	O15015-2	.	F	1667	ENSP00000300850:S1667F;ENSP00000378429:S1667F	ENSP00000300850:S1667F	S	+	2	0	ZNF646	31000146	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.136000	0.10405	0.308000	0.22923	0.655000	0.94253	TCC		0.662	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		11	50	0	0	0	0	11	50				
NLRC5	84166	broad.mit.edu	37	16	57060491	57060491	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:57060491C>T	ENST00000262510.6	+	6	1861	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C	NLRC5_ENST00000436936.1_Missense_Mutation_p.R546C|NLRC5_ENST00000539144.1_Missense_Mutation_p.R546C|NLRC5_ENST00000308149.7_Missense_Mutation_p.R546C	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	546					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCTCCATTCCCGCTGGGTACA	0.612																																						uc002ekk.1		NA																	0				ovary(4)|skin(2)|breast(1)	7						c.(1636-1638)CGC>TGC		nucleotide-binding oligomerization domains 27							117.0	113.0	115.0					16																	57060491		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57060491C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1636C>T	16.37:g.57060491C>T	ENSP00000262510:p.Arg546Cys					NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.R351C|NLRC5_uc002ekl.2_Missense_Mutation_p.R351C|NLRC5_uc002ekm.2_Missense_Mutation_p.R351C|NLRC5_uc010ccr.1_RNA	p.R546C	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			6	1861	+		all_neural(199;0.225)	546					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.1636C>T	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.86|17.86	3.492763|3.492763	0.64074|0.64074	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000538805|ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	.|D;D;D;D;D	.|0.83755	.|-1.76;-1.76;-1.76;-1.76;-1.76	5.66|5.66	4.66|4.66	0.58398|0.58398	.|.	.|0.635159	.|0.12625	.|N	.|0.452708	D|D	0.88074|0.88074	0.6339|0.6339	L|L	0.59436|0.59436	1.845|1.845	0.36979|0.36979	D|D	0.894182|0.894182	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.998;0.997	.|D;D;P;P	.|0.68943	.|0.961;0.958;0.886;0.772	D|D	0.87022|0.87022	0.2129|0.2129	5|10	.|0.46703	.|T	.|0.11	.|.	10.9357|10.9357	0.47243|0.47243	0.3614:0.6386:0.0:0.0|0.3614:0.6386:0.0:0.0	.|.	.|546;546;546;546	.|Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.|.;.;.;NLRC5_HUMAN	L|C	298|546;546;546;20;546;53	.|ENSP00000262510:R546C;ENSP00000308886:R546C;ENSP00000389739:R546C;ENSP00000441727:R546C;ENSP00000441597:R53C	.|ENSP00000262510:R546C	P|R	+|+	2|1	0|0	NLRC5|NLRC5	55617992|55617992	0.705000|0.705000	0.27846|0.27846	0.997000|0.997000	0.53966|0.53966	0.720000|0.720000	0.41350|0.41350	1.500000|1.500000	0.35682|0.35682	2.680000|2.680000	0.91292|0.91292	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.612	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		74	84	0	0	0	0	74	84				
FUK	197258	broad.mit.edu	37	16	70515274	70515274	+	IGR	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:70515274G>C	ENST00000288078.6	+	0	4081				COG4_ENST00000323786.5_Silent_p.L741L	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GCTCCAGATTGAGGATGGTGG	0.592																																						uc002ezc.2		NA																	0					0						c.(2221-2223)CTC>CTG		component of oligomeric golgi complex 4							94.0	99.0	98.0					16																	70515274		2198	4300	6498	SO:0001628	intergenic_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70515274G>C		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085		16.37:g.70515274G>C						COG4_uc002eza.2_Silent_p.L78L|COG4_uc002ezb.2_Silent_p.L197L|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.L720L|COG4_uc002eze.2_Silent_p.L435L	p.L741L	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			18	2234	-		Ovarian(137;0.0694)	737			D domain.		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	c.2223C>G	CCDS10891.2																																																																																				0.592	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		6	166	0	0	0	0	6	166				
ZFHX3	463	broad.mit.edu	37	16	72992559	72992559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:72992559G>A	ENST00000268489.5	-	2	2158	c.1486C>T	c.(1486-1488)Cca>Tca	p.P496S	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	496					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AACTCGCTTGGAAAGAGTCCT	0.577																																						uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(1486-1488)CCA>TCA		zinc finger homeobox 3 isoform A							76.0	81.0	80.0					16																	72992559		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72992559G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1486C>T	16.37:g.72992559G>A	ENSP00000268489:p.Pro496Ser					ZFHX3_uc002fcl.2_Intron	p.P496S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	2159	-		Ovarian(137;0.13)	496					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.1486C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	0.851	-0.738659	0.03111	.	.	ENSG00000140836	ENST00000268489	T	0.70986	-0.53	5.01	4.03	0.46877	.	0.000000	0.49916	D	0.000134	T	0.42630	0.1211	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.35992	-0.9766	10	0.02654	T	1	.	8.4283	0.32742	0.0797:0.2984:0.6219:0.0	.	496	Q15911	ZFHX3_HUMAN	S	496	ENSP00000268489:P496S	ENSP00000268489:P496S	P	-	1	0	ZFHX3	71550060	1.000000	0.71417	0.998000	0.56505	0.561000	0.35649	1.802000	0.38853	1.208000	0.43306	0.650000	0.86243	CCA		0.577	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		32	48	0	0	0	0	32	48				
KARS	3735	broad.mit.edu	37	16	75665700	75665700	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:75665700C>T	ENST00000302445.3	-	8	1008	c.969G>A	c.(967-969)cgG>cgA	p.R323R	KARS_ENST00000319410.5_Silent_p.R351R|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	323					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TCCCCTCATTCCGGAACTGGC	0.463																																						uc002feq.2		NA																	0				ovary(2)	2						c.(967-969)CGG>CGA		lysyl-tRNA synthetase isoform 2	L-Lysine(DB00123)						217.0	197.0	204.0					16																	75665700		2198	4300	6498	SO:0001819	synonymous_variant	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75665700C>T	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.969G>A	16.37:g.75665700C>T						KARS_uc002fer.2_Silent_p.R351R|KARS_uc002fes.2_Silent_p.R167R	p.R323R	NM_005548	NP_005539	Q15046	SYK_HUMAN			8	1017	-			323			ATP.		A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Silent	SNP	ENST00000302445.3	37	c.969G>A	CCDS10923.1																																																																																				0.463	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		72	100	0	0	0	0	72	100				
PLCG2	5336	broad.mit.edu	37	16	81968079	81968079	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:81968079G>A	ENST00000359376.3	+	26	2999	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	929					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CATCGCCATCGAGCTCTCTGA	0.478																																						uc002fgt.2		NA																	0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(2785-2787)GAG>AAG		phospholipase C, gamma 2							84.0	89.0	88.0					16																	81968079		1977	4156	6133	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81968079G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2785G>A	16.37:g.81968079G>A	ENSP00000352336:p.Glu929Lys						p.E929K	NM_002661	NP_002652	P16885	PLCG2_HUMAN			26	2937	+			929					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2785G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	36	5.641923	0.96704	.	.	ENSG00000197943	ENST00000359376	T	0.69175	-0.38	5.29	5.29	0.74685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (1);	0.000000	0.85682	D	0.000000	D	0.86222	0.5881	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.89616	0.3845	10	0.87932	D	0	.	18.9441	0.92615	0.0:0.0:1.0:0.0	.	929	P16885	PLCG2_HUMAN	K	929	ENSP00000352336:E929K	ENSP00000352336:E929K	E	+	1	0	PLCG2	80525580	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.689000	0.98673	2.473000	0.83533	0.561000	0.74099	GAG		0.478	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			18	30	0	0	0	0	18	30				
PRPF8	10594	broad.mit.edu	37	17	1582167	1582167	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:1582167C>G	ENST00000572621.1	-	11	1873	c.1608G>C	c.(1606-1608)aaG>aaC	p.K536N	PRPF8_ENST00000304992.6_Missense_Mutation_p.K536N			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	536					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AACGAGATTTCTTTCTTTCCT	0.468																																						uc002fte.2		NA																	0				lung(4)|ovary(2)	6						c.(1606-1608)AAG>AAC		U5 snRNP-specific protein							64.0	61.0	62.0					17																	1582167		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1582167C>G	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1608G>C	17.37:g.1582167C>G	ENSP00000460348:p.Lys536Asn						p.K536N	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	12	1722	-			536					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.1608G>C	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533640	0.64972	.	.	ENSG00000174231	ENST00000304992	D	0.85861	-2.04	6.07	2.99	0.34606	PROCN (1);	0.000000	0.85682	D	0.000000	D	0.93239	0.7846	H	0.95679	3.705	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.91823	0.5469	10	0.87932	D	0	.	7.8797	0.29614	0.0:0.5741:0.0:0.4259	.	536	Q6P2Q9	PRP8_HUMAN	N	536	ENSP00000304350:K536N	ENSP00000304350:K536N	K	-	3	2	PRPF8	1528917	0.938000	0.31826	1.000000	0.80357	0.996000	0.88848	0.123000	0.15708	0.440000	0.26502	0.650000	0.86243	AAG		0.468	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			6	43	0	0	0	0	6	43				
PRPF8	10594	broad.mit.edu	37	17	1582626	1582626	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:1582626C>G	ENST00000572621.1	-	9	1633	c.1368G>C	c.(1366-1368)ctG>ctC	p.L456L	PRPF8_ENST00000304992.6_Silent_p.L456L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	456					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCAGGGCATTCAGCACATAGT	0.542																																						uc002fte.2		NA																	0				lung(4)|ovary(2)	6						c.(1366-1368)CTG>CTC		U5 snRNP-specific protein							76.0	82.0	80.0					17																	1582626		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1582626C>G	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1368G>C	17.37:g.1582626C>G							p.L456L	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	10	1482	-			456					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.1368G>C	CCDS11010.1																																																																																				0.542	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			8	66	0	0	0	0	8	66				
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:7577085C>T	ENST00000269305.4	-	8	1042	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E285K	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	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> 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.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	TTCTCTTCCTCTGTGCGCCGG	0.562		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		165	Substitution - Missense(115)|Substitution - Nonsense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(1)	urinary_tract(53)|breast(18)|large_intestine(15)|lung(11)|upper_aerodigestive_tract(10)|stomach(8)|haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(6)|oesophagus(6)|liver(6)|skin(5)|prostate(4)|bone(4)|biliary_tract(3)|ovary(3)|adrenal_gland(1)|soft_tissue(1)|eye(1)|pancreas(1)|thyroid(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM995136	TP53	M	rs112431538	c.(853-855)GAG>AAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							91.0	78.0	82.0					17																	7577085		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.chr17:7577085C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.853G>A	17.37:g.7577085C>T	ENSP00000269305:p.Glu285Lys	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_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K	p.E285K	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1047	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	285		E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|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.853G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703759	0.88924	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.99	4.99	0.66335	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	0.99843	0.9928	M	0.89904	3.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.994;0.983;0.994;0.998	D	0.96661	0.9489	10	0.87932	D	0	-38.0538	15.807	0.78520	0.0:1.0:0.0:0.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	285;285;285;285;285;274;153	ENSP00000352610:E285K;ENSP00000269305:E285K;ENSP00000398846:E285K;ENSP00000391127:E285K;ENSP00000391478:E285K;ENSP00000425104:E153K	ENSP00000269305:E285K	E	-	1	0	TP53	7517810	1.000000	0.71417	0.900000	0.35374	0.716000	0.41182	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	23	0	0	0	0	14	23				
MYH10	4628	broad.mit.edu	37	17	8422110	8422110	+	Splice_Site	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:8422110C>G	ENST00000269243.4	-	19	2389		c.e19-1		MYH10_ENST00000379980.4_Splice_Site|MYH10_ENST00000360416.3_Splice_Site|MYH10_ENST00000396239.1_Splice_Site	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle						actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AAGCCCGGATCTAAGAGAGAA	0.353																																						uc002gll.2		NA																	0				ovary(2)	2						c.e19-1		myosin, heavy polypeptide 10, non-muscle							74.0	74.0	74.0					17																	8422110		2203	4300	6503	SO:0001630	splice_region_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8422110C>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2251-1G>C	17.37:g.8422110C>G						MYH10_uc002glm.2_Splice_Site_p.I782_splice|MYH10_uc010cnx.2_Splice_Site_p.I760_splice	p.I751_splice	NM_005964	NP_005955	P35580	MYH10_HUMAN			19	2347	-								B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Splice_Site	SNP	ENST00000269243.4	37	c.2251_splice	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507033	0.85282	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.417	0.90574	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH10	8362835	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.609000	0.82925	2.574000	0.86865	0.650000	0.86243	.		0.353	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		Intron	3	46	0	0	0	0	3	46				
MYH2	4620	broad.mit.edu	37	17	10442663	10442663	+	Silent	SNP	G	G	A	rs151000841	byFrequency	TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:10442663G>A	ENST00000245503.5	-	14	1659	c.1275C>T	c.(1273-1275)aaC>aaT	p.N425N	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.N425N|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Silent_p.N425N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	425	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CACCTACTGCGTTGGACACCT	0.468													G|||	4	0.000798722	0.0023	0.0	5008	,	,		18507	0.001		0.0	False		,,,				2504	0.0					uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(1273-1275)AAC>AAT		myosin heavy chain IIa		G	,	2,4404	4.2+/-10.8	0,2,2201	149.0	150.0	150.0		1275,1275	-7.5	0.0	17	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MYH2	NM_001100112.1,NM_017534.5	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	425/1942,425/1942	10442663	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10442663G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1275C>T	17.37:g.10442663G>A						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.N425N|MYH2_uc010coj.2_Silent_p.N425N	p.N425N	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			14	1403	-			425			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.1275C>T	CCDS11156.1																																																																																				0.468	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		18	118	0	0	0	0	18	118				
ATPAF2	91647	broad.mit.edu	37	17	17942267	17942267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:17942267C>T	ENST00000474627.3	-	1	215	c.61G>A	c.(61-63)Ggt>Agt	p.G21S	ATPAF2_ENST00000585101.1_Missense_Mutation_p.G21S|GID4_ENST00000268719.4_5'Flank|GID4_ENST00000376345.3_5'Flank	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	21					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CTGGGGCCACCCGCCGGCCGA	0.667																																						uc002gse.1		NA																	0					0						c.(61-63)GGT>AGT		ATP synthase mitochondrial F1 complex assembly							13.0	16.0	15.0					17																	17942267		2197	4293	6490	SO:0001583	missense	91647				proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding	g.chr17:17942267C>T	AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"""Mitochondrial respiratory chain complex assembly factors"""	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.61G>A	17.37:g.17942267C>T	ENSP00000417190:p.Gly21Ser					C17orf39_uc002gsg.1_5'Flank|ATPAF2_uc002gsd.1_RNA|ATPAF2_uc002gsf.1_RNA|ATPAF2_uc010vxf.1_Missense_Mutation_p.G21S	p.G21S	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN			1	214	-	all_neural(463;0.228)		21					A6NDE5|A8K2J2|Q6XYC7	Missense_Mutation	SNP	ENST00000474627.3	37	c.61G>A	CCDS32585.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112952	0.37242	.	.	ENSG00000171953	ENST00000474627;ENST00000444058	T;T	0.76578	-1.03;-0.99	4.58	-0.321	0.12717	.	1.018760	0.07801	N	0.956536	T	0.51856	0.1699	N	0.08118	0	0.09310	N	1	B;B	0.18013	0.025;0.001	B;B	0.13407	0.009;0.003	T	0.37641	-0.9697	10	0.08179	T	0.78	-0.0641	5.5991	0.17343	0.0:0.519:0.2878:0.1932	.	21;21	B4DG98;Q8N5M1	.;ATPF2_HUMAN	S	21	ENSP00000417190:G21S;ENSP00000397198:G21S	ENSP00000434980:G21S	G	-	1	0	ATPAF2	17882992	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.767000	0.04720	0.208000	0.20626	0.561000	0.74099	GGT		0.667	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3	NM_145691		12	7	0	0	0	0	12	7				
MYO15A	51168	broad.mit.edu	37	17	18039062	18039062	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:18039062G>A	ENST00000205890.5	+	13	4858	c.4520G>A	c.(4519-4521)cGa>cAa	p.R1507Q		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1507	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTGAGTGCCCGAGAGATCCAG	0.522																																						uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(4519-4521)CGA>CAA		myosin XV							58.0	65.0	62.0					17																	18039062		2094	4220	6314	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18039062G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.4520G>A	17.37:g.18039062G>A	ENSP00000205890:p.Arg1507Gln						p.R1507Q	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			12	4858	+	all_neural(463;0.228)		1507			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.4520G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.424048	0.43020	.	.	ENSG00000091536	ENST00000205890	D	0.86865	-2.18	5.25	5.25	0.73442	Myosin head, motor domain (2);	.	.	.	.	T	0.68210	0.2976	N	0.02345	-0.59	0.80722	D	1	P	0.44478	0.836	B	0.36885	0.235	T	0.72584	-0.4249	9	0.14252	T	0.57	.	15.4529	0.75290	0.0:0.1489:0.8511:0.0	.	1507	Q9UKN7	MYO15_HUMAN	Q	1507	ENSP00000205890:R1507Q	ENSP00000205890:R1507Q	R	+	2	0	MYO15A	17979787	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.164000	0.58190	2.450000	0.82876	0.655000	0.94253	CGA		0.522	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		7	24	0	0	0	0	7	24				
TTC25	83538	broad.mit.edu	37	17	40087031	40087031	+	RNA	SNP	G	G	A	rs201321025	byFrequency	TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:40087031G>A	ENST00000591658.1	+	0	123							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)		p.E19K(2)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TTATATGGCCGAAGGCGAGCG	0.542													G|||	6	0.00119808	0.0045	0.0	5008	,	,		12913	0.0		0.0	False		,,,				2504	0.0					uc002hyj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(55-57)GAA>AAA		tetratricopeptide repeat domain 25		G	LYS/GLU	4,3702		0,4,1849	35.0	36.0	36.0		55	5.7	1.0	17		36	0,8196		0,0,4098	yes	missense	TTC25	NM_031421.2	56	0,4,5947	AA,AG,GG		0.0,0.1079,0.0336	probably-damaging	19/607	40087031	4,11898	1853	4098	5951			83538					cytoplasm	protein binding	g.chr17:40087031G>A	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40087031G>A						TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Missense_Mutation_p.E19K	p.E19K	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN			1	144	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)	19			TPR 1.		Q6NX40|Q6PJ04|Q9H0K5	Missense_Mutation	SNP	ENST00000591658.1	37	c.55G>A		.	.	.	.	.	.	.	.	.	.	G	37	6.206129	0.97376	0.001079	0.0	ENSG00000204815	ENST00000377540	.	.	.	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.168708	0.53938	D	0.000052	T	0.77896	0.4199	M	0.72894	2.215	0.35543	D	0.803259	D;D	0.89917	0.974;1.0	P;D	0.79784	0.742;0.993	T	0.73528	-0.3954	8	0.31617	T	0.26	-52.8386	17.6706	0.88216	0.0:0.0:1.0:0.0	.	19;19	C9JGW6;Q96NG3	.;TTC25_HUMAN	K	19	.	ENSP00000366763:E19K	E	+	1	0	AC091172.1	37340557	1.000000	0.71417	0.982000	0.44146	0.950000	0.60333	6.975000	0.76128	2.941000	0.99782	0.655000	0.94253	GAA		0.542	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421		5	8	0	0	0	0	5	8				
BRCA1	672	broad.mit.edu	37	17	41246860	41246860	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:41246860C>G	ENST00000357654.3	-	10	806	c.688G>C	c.(688-690)Gag>Cag	p.E230Q	BRCA1_ENST00000346315.3_Missense_Mutation_p.E230Q|BRCA1_ENST00000493795.1_Missense_Mutation_p.E183Q|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.E230Q|BRCA1_ENST00000354071.3_Missense_Mutation_p.E230Q|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E230Q|BRCA1_ENST00000468300.1_Missense_Mutation_p.E230Q|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_5'UTR	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	230					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACATCCGTCTCAGAAAATTCA	0.368			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		0				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(688-690)GAG>CAG	Homologous_recombination	breast cancer 1, early onset isoform 1							25.0	24.0	24.0					17																	41246860		2182	4281	6463	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246860C>G	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.688G>C	17.37:g.41246860C>G	ENSP00000350283:p.Glu230Gln	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Missense_Mutation_p.E183Q|BRCA1_uc010whl.1_Missense_Mutation_p.E230Q|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.E159Q|BRCA1_uc002icu.2_Missense_Mutation_p.E230Q|BRCA1_uc010cyx.2_Missense_Mutation_p.E183Q|BRCA1_uc002ict.2_Missense_Mutation_p.E230Q|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.E62Q|BRCA1_uc002idc.1_Missense_Mutation_p.E229Q|BRCA1_uc010whr.1_Missense_Mutation_p.E183Q|BRCA1_uc002idd.2_Missense_Mutation_p.E230Q|BRCA1_uc002ide.1_Missense_Mutation_p.E61Q|BRCA1_uc010cyy.1_Missense_Mutation_p.E230Q|BRCA1_uc010whs.1_Missense_Mutation_p.E230Q|BRCA1_uc010cyz.2_Missense_Mutation_p.E183Q|BRCA1_uc010cza.2_Missense_Mutation_p.E204Q|BRCA1_uc010wht.1_5'UTR	p.E230Q	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	920	-		Breast(137;0.000717)	230					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.688G>C	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760680	0.31137	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825;ENST00000470026;ENST00000477152;ENST00000494123	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97598	-2.43;-2.53;-2.51;-2.63;-3.18;-2.44;-2.58;-2.46;-2.44;-2.75;-2.23;-2.97;-4.45;-2.66	4.86	4.86	0.63082	.	0.351400	0.24511	N	0.037882	D	0.97707	0.9248	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.993;0.998;0.998;0.998;0.996;0.97;0.994;0.987;0.999	D;D;D;P;P;P;D;P;P;P;D	0.75484	0.986;0.942;0.968;0.842;0.842;0.842;0.986;0.601;0.767;0.737;0.924	D	0.97394	0.9991	10	0.87932	D	0	.	10.5343	0.44994	0.0:0.9033:0.0:0.0967	.	229;183;229;230;189;230;230;230;230;230;230	E7EUM2;B4DES0;E7ETR2;E7EMP0;E7ERL4;Q5YLB2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;.;.;.;BRCA1_HUMAN;.	Q	230;230;230;230;230;183;230;183;229;229;104;183;105;230;204;230	ENSP00000350283:E230Q;ENSP00000326002:E230Q;ENSP00000246907:E230Q;ENSP00000417148:E230Q;ENSP00000377294:E183Q;ENSP00000418960:E230Q;ENSP00000418775:E183Q;ENSP00000420412:E229Q;ENSP00000419481:E104Q;ENSP00000418819:E183Q;ENSP00000418212:E105Q;ENSP00000419274:E230Q;ENSP00000419988:E204Q;ENSP00000419103:E230Q	ENSP00000246907:E230Q	E	-	1	0	BRCA1	38500386	1.000000	0.71417	0.999000	0.59377	0.109000	0.19521	2.393000	0.44442	2.683000	0.91414	0.591000	0.81541	GAG		0.368	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		9	15	0	0	0	0	9	15				
SP6	80320	broad.mit.edu	37	17	45924944	45924944	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:45924944G>A	ENST00000536300.1	-	2	1183	c.852C>T	c.(850-852)ttC>ttT	p.F284F	SP6_ENST00000342234.2_Silent_p.F284F	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	284					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						AGTTGCACACGAAGGGACGGT	0.652																																						uc002img.1		NA																	0				skin(1)	1						c.(850-852)TTC>TTT		Sp6 transcription factor							41.0	37.0	38.0					17																	45924944		2203	4300	6503	SO:0001819	synonymous_variant	80320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:45924944G>A		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14530	protein-coding gene	gene with protein product	"""epiprofin"""	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.852C>T	17.37:g.45924944G>A						SP6_uc002imh.1_Silent_p.F284F	p.F284F	NM_199262	NP_954871	Q3SY56	SP6_HUMAN			2	1184	-			284			C2H2-type 2.		B3KXS4	Silent	SNP	ENST00000536300.1	37	c.852C>T	CCDS11520.1																																																																																				0.652	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441395.1	NM_199262		14	35	0	0	0	0	14	35				
HOXB5	3215	broad.mit.edu	37	17	46670537	46670537	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:46670537C>T	ENST00000239151.5	-	1	786	c.508G>A	c.(508-510)Gag>Aag	p.E170K	HOXB-AS3_ENST00000460041.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB3_ENST00000476342.1_5'Flank|HOXB3_ENST00000498678.1_5'Flank|HOXB3_ENST00000460160.1_5'Flank|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB3_ENST00000472863.1_5'Flank|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000429755.4_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	170					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						GTCTGCCCCTCGGGCGCGGCT	0.607																																						uc002inr.2		NA																	0					0						c.(508-510)GAG>AAG		homeobox B5							37.0	42.0	40.0					17																	46670537		2203	4299	6502	SO:0001583	missense	3215					nucleus	sequence-specific DNA binding	g.chr17:46670537C>T		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	5116	protein-coding gene	gene with protein product		142960	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.508G>A	17.37:g.46670537C>T	ENSP00000239151:p.Glu170Lys					HOXB3_uc010wlm.1_5'Flank|HOXB3_uc010dbf.2_5'Flank|HOXB3_uc010dbg.2_5'Flank	p.E170K	NM_002147	NP_002138	P09067	HXB5_HUMAN			1	567	-			170					B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	ENST00000239151.5	37	c.508G>A	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522147	0.44866	.	.	ENSG00000120075	ENST00000239151	D	0.91843	-2.92	5.31	4.34	0.51931	.	0.105910	0.64402	D	0.000006	D	0.87767	0.6260	L	0.50333	1.59	0.41794	D	0.989887	B	0.33857	0.429	B	0.27170	0.077	D	0.85082	0.0946	10	0.28530	T	0.3	.	13.4791	0.61326	0.0:0.9232:0.0:0.0768	.	170	P09067	HXB5_HUMAN	K	170	ENSP00000239151:E170K	ENSP00000239151:E170K	E	-	1	0	HOXB5	44025536	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.408000	0.80041	1.224000	0.43551	0.455000	0.32223	GAG		0.607	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			16	45	0	0	0	0	16	45				
EPN3	55040	broad.mit.edu	37	17	48615544	48615544	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:48615544G>A	ENST00000268933.3	+	3	1246	c.667G>A	c.(667-669)Gag>Aag	p.E223K	EPN3_ENST00000541226.1_Missense_Mutation_p.E167K|RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Missense_Mutation_p.E278K	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	223						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CATGAGCCGTGAGGAGGCAGA	0.667																																						uc002ira.3		NA																	0				ovary(1)	1						c.(667-669)GAG>AAG		epsin 3							47.0	38.0	41.0					17																	48615544		2203	4300	6503	SO:0001583	missense	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48615544G>A	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.667G>A	17.37:g.48615544G>A	ENSP00000268933:p.Glu223Lys					EPN3_uc010wms.1_Missense_Mutation_p.E278K|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.E223K	p.E223K	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		3	1102	+	Breast(11;1.23e-18)		223			UIM 1.		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	c.667G>A	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925509	0.92319	.	.	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145;ENST00000541226;ENST00000411703	T;T;T	0.58060	2.08;1.24;0.36	4.54	4.54	0.55810	Ubiquitin interacting motif (3);	0.062476	0.64402	D	0.000007	T	0.73434	0.3586	M	0.79805	2.47	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.997;0.998;0.992	T	0.74408	-0.3675	10	0.35671	T	0.21	-20.981	17.345	0.87308	0.0:0.0:1.0:0.0	.	278;278;223	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	K	223;278;278;167;223	ENSP00000268933:E223K;ENSP00000439512:E278K;ENSP00000440540:E167K	ENSP00000268933:E223K	E	+	1	0	EPN3	45970543	1.000000	0.71417	0.861000	0.33841	0.595000	0.36748	9.783000	0.99037	2.247000	0.74100	0.456000	0.33151	GAG		0.667	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		7	24	0	0	0	0	7	24				
HELZ	9931	broad.mit.edu	37	17	65105306	65105306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:65105306C>T	ENST00000358691.5	-	29	4581	c.4415G>A	c.(4414-4416)gGc>gAc	p.G1472D	HELZ_ENST00000580168.1_Missense_Mutation_p.G1473D	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1472						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AAGAATGGGGCCGGGTTGTGC	0.532																																						uc010wqk.1		NA																	0				ovary(1)|pancreas(1)	2						c.(4417-4419)GGC>GAC		helicase with zinc finger domain							75.0	80.0	78.0					17																	65105306		1927	4139	6066	SO:0001583	missense	9931							g.chr17:65105306C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.4415G>A	17.37:g.65105306C>T	ENSP00000351524:p.Gly1472Asp					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.G1472D|HELZ_uc010der.2_Missense_Mutation_p.G16D	p.G1473D	NM_014877	NP_055692					29	4605	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.4418G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752621	0.31046	.	.	ENSG00000198265	ENST00000358691	D	0.84298	-1.83	5.9	3.75	0.43078	.	0.440311	0.28465	N	0.015252	T	0.70395	0.3219	N	0.19112	0.55	0.40822	D	0.983517	B;B	0.27823	0.19;0.19	B;B	0.24155	0.051;0.051	T	0.67968	-0.5533	10	0.52906	T	0.07	-0.5425	4.208	0.10498	0.0:0.5536:0.0:0.4464	.	1473;1472	B7ZLW2;P42694	.;HELZ_HUMAN	D	1472	ENSP00000351524:G1472D	ENSP00000351524:G1472D	G	-	2	0	HELZ	62535768	0.997000	0.39634	0.931000	0.37212	0.793000	0.44817	0.613000	0.24299	1.512000	0.48834	0.549000	0.68633	GGC		0.532	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		5	69	0	0	0	0	5	69				
BTBD17	388419	broad.mit.edu	37	17	72353305	72353305	+	Missense_Mutation	SNP	C	C	T	rs537000700		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:72353305C>T	ENST00000375366.3	-	3	1054	c.928G>A	c.(928-930)Gcc>Acc	p.A310T		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	310					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						GGCAGGAAGGCGCTGCCGTTG	0.716													C|||	1	0.000199681	0.0	0.0014	5008	,	,		10798	0.0		0.0	False		,,,				2504	0.0					uc002jkn.2		NA																	0					0						c.(928-930)GCC>ACC		BTB (POZ) domain containing 17 precursor							8.0	10.0	10.0					17																	72353305		2119	4159	6278	SO:0001583	missense	388419					extracellular region		g.chr17:72353305C>T		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.928G>A	17.37:g.72353305C>T	ENSP00000364515:p.Ala310Thr						p.A310T	NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN			3	928	-			310						Missense_Mutation	SNP	ENST00000375366.3	37	c.928G>A	CCDS32719.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936833	0.34189	.	.	ENSG00000204347	ENST00000375366	T	0.77358	-1.09	5.19	4.2	0.49525	.	0.333537	0.30930	N	0.008589	T	0.51346	0.1669	N	0.19112	0.55	0.26245	N	0.978806	P	0.39094	0.659	B	0.27076	0.076	T	0.42224	-0.9464	10	0.12766	T	0.61	-10.3286	4.7964	0.13274	0.0:0.6137:0.1931:0.1932	.	310	A6NE02	BTBDH_HUMAN	T	310	ENSP00000364515:A310T	ENSP00000364515:A310T	A	-	1	0	BTBD17	69864900	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.822000	0.39052	1.167000	0.42706	0.456000	0.33151	GCC		0.716	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1	NM_001080466		5	11	0	0	0	0	5	11				
RAB37	326624	broad.mit.edu	37	17	72741479	72741479	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:72741479G>A	ENST00000392613.5	+	9	657	c.601G>A	c.(601-603)Gag>Aag	p.E201K	RAB37_ENST00000392615.5_Missense_Mutation_p.E169K|RAB37_ENST00000392614.4_Missense_Mutation_p.E206K|RAB37_ENST00000392610.1_3'UTR|RAB37_ENST00000528438.1_Missense_Mutation_p.E174K|RAB37_ENST00000392612.3_Missense_Mutation_p.E164K|RAB37_ENST00000402449.4_Missense_Mutation_p.E194K|RAB37_ENST00000340415.3_3'UTR|MIR3615_ENST00000585285.1_RNA	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	201					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						TCAGGCGGATGAGCCCAGCTT	0.622											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jlk.2		NA																	0				ovary(1)	1						c.(601-603)GAG>AAG		RAB37, member RAS oncogene family isoform 2							50.0	53.0	52.0					17																	72741479		2203	4300	6503	SO:0001583	missense	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72741479G>A	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.601G>A	17.37:g.72741479G>A	ENSP00000376389:p.Glu201Lys		OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1139	RAB37_uc002jlc.2_3'UTR|RAB37_uc010dfu.2_Missense_Mutation_p.E194K|RAB37_uc002jld.2_3'UTR|RAB37_uc010wrb.1_Missense_Mutation_p.E169K|RAB37_uc010wrc.1_Missense_Mutation_p.E206K|RAB37_uc010wrd.1_Missense_Mutation_p.E169K|RAB37_uc010wre.1_Missense_Mutation_p.E164K|RAB37_uc002jll.3_RNA	p.E201K	NM_001006638	NP_001006639	Q96AX2	RAB37_HUMAN			9	657	+			201					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.601G>A	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286881	0.59867	.	.	ENSG00000172794	ENST00000402449;ENST00000469248;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000392612	T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.25	5.25	0.73442	.	0.169634	0.49916	D	0.000127	T	0.70011	0.3175	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B	0.23442	0.011;0.085;0.085;0.079;0.025	B;B;B;B;B	0.28139	0.023;0.086;0.04;0.049;0.013	T	0.65150	-0.6238	10	0.31617	T	0.26	.	17.9711	0.89113	0.0:0.0:1.0:0.0	.	164;169;206;194;201	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2	.;.;.;.;RAB37_HUMAN	K	194;194;174;169;206;201;164	ENSP00000383934:E194K;ENSP00000432086:E174K;ENSP00000376391:E169K;ENSP00000376390:E206K;ENSP00000376389:E201K;ENSP00000376388:E164K	ENSP00000376388:E164K	E	+	1	0	RAB37	70253074	1.000000	0.71417	0.245000	0.24217	0.746000	0.42486	7.331000	0.79192	2.606000	0.88127	0.655000	0.94253	GAG		0.622	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		29	49	0	0	0	0	29	49				
FOXJ1	2302	broad.mit.edu	37	17	74136166	74136166	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:74136166A>C	ENST00000322957.6	-	2	665	c.311T>G	c.(310-312)cTg>cGg	p.L104R	RNF157-AS1_ENST00000590137.1_RNA|RNF157_ENST00000589912.1_5'Flank|RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	104					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			TGGGGCCTGCAGCCCCGGGGG	0.736																																						uc002jqw.2		NA																	0				pancreas(1)	1						c.(310-312)CTG>CGG		forkhead box J1							30.0	26.0	27.0					17																	74136166		2199	4298	6497	SO:0001583	missense	2302				actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:74136166A>C	X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"""Forkhead boxes"""	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.311T>G	17.37:g.74136166A>C	ENSP00000323880:p.Leu104Arg					FOXJ1_uc002jqx.2_Missense_Mutation_p.L104R|uc002jqy.1_5'Flank	p.L104R	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		1	401	-			104					O00630	Missense_Mutation	SNP	ENST00000322957.6	37	c.311T>G	CCDS32739.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037955	0.54896	.	.	ENSG00000129654	ENST00000322957	D	0.94613	-3.47	5.0	5.0	0.66597	.	0.132512	0.51477	D	0.000094	D	0.91580	0.7340	L	0.43152	1.355	0.53688	D	0.999973	P	0.35208	0.49	B	0.37267	0.245	D	0.89940	0.4072	10	0.25751	T	0.34	.	14.6828	0.69031	1.0:0.0:0.0:0.0	.	104	Q92949	FOXJ1_HUMAN	R	104	ENSP00000323880:L104R	ENSP00000323880:L104R	L	-	2	0	FOXJ1	71647761	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.755000	0.47540	1.872000	0.54250	0.379000	0.24179	CTG		0.736	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		4	24	0	0	0	0	4	24				
C1QTNF1	114897	broad.mit.edu	37	17	77043984	77043984	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:77043984C>G	ENST00000339142.2	+	5	1215	c.660C>G	c.(658-660)atC>atG	p.I220M	C1QTNF1_ENST00000581774.1_Missense_Mutation_p.I220M|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.I220M|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.I230M|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.I138M|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.I138M|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.I220M|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.I220M|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.I220M|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.I220M	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	220	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AGGTGGTGATCTTGTTCGCGC	0.597																																						uc002jwp.2		NA																	0				ovary(1)	1						c.(658-660)ATC>ATG		C1q and tumor necrosis factor related protein 1							165.0	131.0	142.0					17																	77043984		2203	4300	6503	SO:0001583	missense	114897					collagen		g.chr17:77043984C>G	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.660C>G	17.37:g.77043984C>G	ENSP00000340864:p.Ile220Met					C1QTNF1_uc002jwq.2_Missense_Mutation_p.I138M|C1QTNF1_uc002jwr.3_Missense_Mutation_p.I230M|C1QTNF1_uc002jws.2_Missense_Mutation_p.I220M|C1QTNF1_uc002jwt.2_Missense_Mutation_p.I318M	p.I220M	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		4	1000	+			220			C1q.		Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	c.660C>G	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.037138	0.54896	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.07	-1.3	0.09259	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.078076	0.49916	D	0.000127	T	0.69196	0.3084	L	0.42487	1.325	0.44395	D	0.997305	P;P;P	0.46859	0.774;0.774;0.885	P;P;P	0.55222	0.593;0.593;0.771	T	0.64007	-0.6508	10	0.48119	T	0.1	.	2.8847	0.05658	0.1465:0.4773:0.0908:0.2854	.	230;230;220	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	M	220;138;230;220;230	ENSP00000340864:I220M;ENSP00000311265:I138M;ENSP00000343230:I230M;ENSP00000376240:I230M	ENSP00000311265:I138M	I	+	3	3	C1QTNF1	74555579	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	0.890000	0.28295	-0.044000	0.13491	-0.254000	0.11334	ATC		0.597	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		29	54	0	0	0	0	29	54				
COLEC12	81035	broad.mit.edu	37	18	346549	346549	+	Missense_Mutation	SNP	C	C	T	rs140999458		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:346549C>T	ENST00000400256.3	-	5	1280	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	358					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGTCAGCGTCCGCAGGTGGTG	0.473													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22278	0.0		0.0	False		,,,				2504	0.0					uc002kkm.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1072-1074)CGG>CAG		collectin sub-family member 12		C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	189.0	155.0	166.0		1073	5.0	1.0	18	dbSNP_134	166	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COLEC12	NM_130386.2	43	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	benign	358/743	346549	4,13002	2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:346549C>T	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1073G>A	18.37:g.346549C>T	ENSP00000383115:p.Arg358Gln						p.R358Q	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			5	1288	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	358			Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1073G>A	CCDS32782.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	13.97	2.396013	0.42512	6.81E-4	1.16E-4	ENSG00000158270	ENST00000400256	D	0.96913	-4.17	5.86	4.99	0.66335	.	0.051165	0.85682	D	0.000000	D	0.91895	0.7434	L	0.27053	0.805	0.48632	D	0.999689	B	0.26445	0.149	B	0.13407	0.009	D	0.89034	0.3444	10	0.25106	T	0.35	-26.3187	15.0116	0.71555	0.0:0.9318:0.0:0.0682	.	358	Q5KU26	COL12_HUMAN	Q	358	ENSP00000383115:R358Q	ENSP00000383115:R358Q	R	-	2	0	COLEC12	336549	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.440000	0.80464	1.491000	0.48482	-0.140000	0.14226	CGG		0.473	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			18	46	0	0	0	0	18	46				
LAMA3	3909	broad.mit.edu	37	18	21293932	21293932	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:21293932C>G	ENST00000313654.9	+	2	584	c.343C>G	c.(343-345)Cct>Gct	p.P115A	LAMA3_ENST00000399516.3_Missense_Mutation_p.P115A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	115	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GAAAGCACATCCTGTCACCAA	0.438																																						uc002kuq.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(343-345)CCT>GCT		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						83.0	78.0	80.0					18																	21293932		1955	4161	6116	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21293932C>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.343C>G	18.37:g.21293932C>G	ENSP00000324532:p.Pro115Ala					LAMA3_uc010dlv.1_Missense_Mutation_p.P115A|LAMA3_uc002kur.2_Missense_Mutation_p.P115A	p.P115A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			2	429	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		115			Laminin N-terminal.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.343C>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948577	0.73787	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.65364	-0.15;-0.15	5.71	5.71	0.89125	Laminin, N-terminal (3);	.	.	.	.	D	0.86285	0.5896	H	0.95187	3.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.89505	0.3767	9	0.66056	D	0.02	.	19.8603	0.96781	0.0:1.0:0.0:0.0	.	115;115;115	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	A	115	ENSP00000324532:P115A;ENSP00000382432:P115A	ENSP00000324532:P115A	P	+	1	0	LAMA3	19547930	1.000000	0.71417	0.915000	0.36163	0.382000	0.30200	7.692000	0.84203	2.681000	0.91329	0.655000	0.94253	CCT		0.438	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		10	26	0	0	0	0	10	26				
DCC	1630	broad.mit.edu	37	18	50278591	50278591	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:50278591G>A	ENST00000442544.2	+	2	875	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	87	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGGAATGGATGAAAGGAAGCA	0.498																																						uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(259-261)GAA>AAA		netrin receptor DCC precursor							119.0	111.0	114.0					18																	50278591		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50278591G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.259G>A	18.37:g.50278591G>A	ENSP00000389140:p.Glu87Lys					DCC_uc010xdr.1_5'UTR	p.E87K	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	2	846	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	87			Extracellular (Potential).|Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.259G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292016	0.40594	.	.	ENSG00000187323	ENST00000442544;ENST00000304775	T	0.01548	4.78	5.52	5.52	0.82312	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.202188	0.40818	N	0.001002	T	0.03305	0.0096	L	0.42529	1.33	0.80722	D	1	B	0.33940	0.433	B	0.38655	0.278	T	0.62459	-0.6850	10	0.27082	T	0.32	.	18.2124	0.89874	0.0:0.0:1.0:0.0	.	87	P43146	DCC_HUMAN	K	87;20	ENSP00000389140:E87K	ENSP00000304146:E20K	E	+	1	0	DCC	48532589	1.000000	0.71417	0.855000	0.33649	0.273000	0.26683	9.457000	0.97630	2.589000	0.87451	0.655000	0.94253	GAA		0.498	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		25	58	0	0	0	0	25	58				
WDR7	23335	broad.mit.edu	37	18	54483274	54483274	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:54483274C>G	ENST00000254442.3	+	20	3414	c.3203C>G	c.(3202-3204)tCa>tGa	p.S1068*	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Nonsense_Mutation_p.S1035*	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1068					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGAGTCACATCAGAAGCCGCG	0.418																																						uc002lgk.1		NA																	0				ovary(2)|skin(1)	3						c.(3202-3204)TCA>TGA		rabconnectin-3 beta isoform 1							48.0	43.0	44.0					18																	54483274		2203	4300	6503	SO:0001587	stop_gained	23335							g.chr18:54483274C>G	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3203C>G	18.37:g.54483274C>G	ENSP00000254442:p.Ser1068*					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Nonsense_Mutation_p.S1035*	p.S1068*	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	20	3414	+			1068					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Nonsense_Mutation	SNP	ENST00000254442.3	37	c.3203C>G	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	44	10.954084	0.99494	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	.	.	.	6.16	6.16	0.99307	.	0.332760	0.31834	N	0.006997	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	16.0112	0.80404	0.1351:0.8649:0.0:0.0	.	.	.	.	X	1068;1035;393;1035	.	ENSP00000254442:S1068X	S	+	2	0	WDR7	52634272	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.007000	0.49536	2.937000	0.99478	0.650000	0.86243	TCA		0.418	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			12	21	0	0	0	0	12	21				
NFATC1	4772	broad.mit.edu	37	18	77193713	77193713	+	Missense_Mutation	SNP	C	C	T	rs376057065		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:77193713C>T	ENST00000427363.2	+	3	1361	c.1361C>T	c.(1360-1362)tCg>tTg	p.S454L	NFATC1_ENST00000587635.1_Missense_Mutation_p.S454L|NFATC1_ENST00000318065.5_Missense_Mutation_p.S441L|NFATC1_ENST00000586434.1_Missense_Mutation_p.S441L|NFATC1_ENST00000542384.1_Missense_Mutation_p.S454L|NFATC1_ENST00000592223.1_Missense_Mutation_p.S441L|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000591814.1_Missense_Mutation_p.S454L|NFATC1_ENST00000329101.4_Missense_Mutation_p.S441L|NFATC1_ENST00000253506.5_Missense_Mutation_p.S454L|NFATC1_ENST00000397790.2_5'UTR			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	454	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|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)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GTGAAGGCGTCGGCCGGAGGA	0.622																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1360-1362)TCG>TTG		nuclear factor of activated T-cells, cytosolic		C	,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	51.0	53.0	52.0		,1361,1322,1322,1361	3.6	0.1	18		52	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,missense,missense,missense,missense	NFATC1	NM_172388.1,NM_172390.1,NM_172389.1,NM_172387.1,NM_006162.3	,145,145,145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign,benign,benign,benign	,454/717,441/813,441/931,454/826	77193713	1,13005	2203	4300	6503	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77193713C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1361C>T	18.37:g.77193713C>T	ENSP00000389377:p.Ser454Leu					NFATC1_uc002lnc.1_Missense_Mutation_p.S454L|NFATC1_uc010xff.1_Missense_Mutation_p.S454L|NFATC1_uc002lnd.2_Missense_Mutation_p.S454L|NFATC1_uc002lne.2_5'UTR|NFATC1_uc010xfh.1_Missense_Mutation_p.S454L|NFATC1_uc010xfi.1_Missense_Mutation_p.S441L|NFATC1_uc010xfj.1_5'UTR|NFATC1_uc002lnf.2_Missense_Mutation_p.S441L|NFATC1_uc002lng.2_Missense_Mutation_p.S441L|NFATC1_uc010xfk.1_Missense_Mutation_p.S441L	p.S454L	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	3	1814	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	454			RHD.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.1361C>T		.	.	.	.	.	.	.	.	.	.	C	8.816	0.936372	0.18206	0.0	1.16E-4	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.47177	0.85;0.85;0.85	4.49	3.61	0.41365	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.412599	0.25827	N	0.028055	T	0.37293	0.0998	L	0.32530	0.975	0.37091	D	0.899427	B;B;B;B;B;B;B	0.28584	0.073;0.073;0.019;0.038;0.038;0.216;0.019	B;B;B;B;B;B;B	0.28849	0.019;0.019;0.019;0.034;0.034;0.095;0.019	T	0.36456	-0.9747	10	0.41790	T	0.15	-5.9006	12.7523	0.57316	0.0:0.918:0.0:0.082	.	441;441;454;454;454;441;454	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	L	454;454;454;441;441;418	ENSP00000253506:S454L;ENSP00000442435:S454L;ENSP00000327850:S441L	ENSP00000253506:S454L	S	+	2	0	NFATC1	75294701	0.937000	0.31787	0.149000	0.22428	0.439000	0.31926	2.585000	0.46111	0.850000	0.35239	0.561000	0.74099	TCG		0.622	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		29	72	0	0	0	0	29	72				
S1PR4	8698	broad.mit.edu	37	19	3179318	3179318	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:3179318G>A	ENST00000246115.3	+	1	583	c.528G>A	c.(526-528)ctG>ctA	p.L176L	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	176					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CCGCGCTGCTGGGGATGCTGC	0.667																																					GBM(82;318 1638 33279 49708)	uc002lxg.2		NA																	0				lung(1)|skin(1)	2						c.(526-528)CTG>CTA		sphingosine-1-phosphate receptor 4 precursor							66.0	72.0	70.0					19																	3179318		2203	4299	6502	SO:0001819	synonymous_variant	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179318G>A	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.528G>A	19.37:g.3179318G>A							p.L176L	NM_003775	NP_003766	O95977	S1PR4_HUMAN			1	553	+			176			Helical; Name=4; (By similarity).		D6W612	Silent	SNP	ENST00000246115.3	37	c.528G>A	CCDS12105.1																																																																																				0.667	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		12	134	0	0	0	0	12	134				
C3	718	broad.mit.edu	37	19	6684804	6684804	+	Silent	SNP	T	T	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:6684804T>C	ENST00000245907.6	-	31	4103	c.4011A>G	c.(4009-4011)aaA>aaG	p.K1337K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1337					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TGCCTTGGCCTTTTCCTTCAG	0.537																																						uc002mfm.2		NA																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(4009-4011)AAA>AAG		complement component 3 precursor							208.0	174.0	186.0					19																	6684804		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6684804T>C	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4011A>G	19.37:g.6684804T>C						C3_uc002mfl.2_Silent_p.K73K	p.K1337K	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	31	4073	-			1337					A7E236	Silent	SNP	ENST00000245907.6	37	c.4011A>G	CCDS32883.1																																																																																				0.537	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		3	137	0	0	0	0	3	137				
EMR1	2015	broad.mit.edu	37	19	6916361	6916361	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:6916361G>C	ENST00000312053.4	+	12	1439	c.1402G>C	c.(1402-1404)Gag>Cag	p.E468Q	EMR1_ENST00000250572.8_Missense_Mutation_p.E468Q|EMR1_ENST00000381404.4_Missense_Mutation_p.E416Q|EMR1_ENST00000450315.3_Missense_Mutation_p.E291Q|EMR1_ENST00000381407.5_Missense_Mutation_p.E327Q	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	468	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTCCACAATTGAGGAATCTGA	0.438																																						uc002mfw.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(1402-1404)GAG>CAG		egf-like module containing, mucin-like, hormone							161.0	141.0	148.0					19																	6916361		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6916361G>C	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1402G>C	19.37:g.6916361G>C	ENSP00000311545:p.Glu468Gln					EMR1_uc010dvc.2_Missense_Mutation_p.E468Q|EMR1_uc010dvb.2_Missense_Mutation_p.E416Q|EMR1_uc010xji.1_Missense_Mutation_p.E327Q|EMR1_uc010xjj.1_Missense_Mutation_p.E291Q	p.E468Q	NM_001974	NP_001965	Q14246	EMR1_HUMAN			12	1440	+	all_hematologic(4;0.166)		468			Ser/Thr-rich.|Extracellular (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.1402G>C	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	3.250	-0.153446	0.06585	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.78246	-1.12;-1.14;-1.16;0.03;0.35	4.67	-6.42	0.01932	.	.	.	.	.	T	0.67599	0.2910	L	0.43152	1.355	0.09310	N	1	P;P;P;P;P	0.46142	0.837;0.514;0.873;0.651;0.651	B;B;B;B;B	0.44044	0.416;0.152;0.439;0.115;0.165	T	0.61153	-0.7120	9	0.19590	T	0.45	.	12.4052	0.55434	0.507:0.0:0.493:0.0	.	291;327;468;416;468	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	Q	468;468;416;468;327;291	ENSP00000311545:E468Q;ENSP00000370811:E416Q;ENSP00000250572:E468Q;ENSP00000370814:E327Q;ENSP00000405974:E291Q	ENSP00000250572:E468Q	E	+	1	0	EMR1	6867361	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.471000	0.02344	-1.094000	0.03054	-0.229000	0.12294	GAG		0.438	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			38	81	0	0	0	0	38	81				
MCOLN1	57192	broad.mit.edu	37	19	7593497	7593497	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:7593497C>T	ENST00000264079.6	+	8	1017	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	298					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAACAGCTTCCGGCTCCTGTT	0.632																																						uc002mgo.2		NA																	0				breast(1)	1						c.(892-894)CGG>TGG		mucolipin 1							136.0	85.0	102.0					19																	7593497		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7593497C>T	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.892C>T	19.37:g.7593497C>T	ENSP00000264079:p.Arg298Trp					MCOLN1_uc002mgp.2_Missense_Mutation_p.R263W	p.R298W	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN			8	1017	+			298			Helical; (Potential).		D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.892C>T	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350072	0.82132	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.76709	-1.04	5.32	5.32	0.75619	.	0.052765	0.85682	D	0.000000	D	0.86577	0.5966	M	0.75777	2.31	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.65987	0.94;0.889	D	0.85752	0.1344	10	0.37606	T	0.19	.	16.4854	0.84183	0.0:1.0:0.0:0.0	.	263;298	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	W	298;263	ENSP00000264079:R298W	ENSP00000264079:R298W	R	+	1	2	MCOLN1	7499497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.271000	0.58902	2.492000	0.84095	0.563000	0.77884	CGG		0.632	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		10	30	0	0	0	0	10	30				
NOTCH3	4854	broad.mit.edu	37	19	15291045	15291045	+	Silent	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:15291045A>G	ENST00000263388.2	-	20	3240	c.3165T>C	c.(3163-3165)tgT>tgC	p.C1055C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1055	EGF-like 27. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACCCGCCTGACACAGCTGCT	0.597																																						uc002nan.2		NA																	0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(3163-3165)TGT>TGC		Notch homolog 3 precursor							43.0	32.0	36.0					19																	15291045		2202	4300	6502	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15291045A>G	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3165T>C	19.37:g.15291045A>G						NOTCH3_uc002nao.1_Silent_p.C1003C	p.C1055C	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		20	3241	-			1055			Extracellular (Potential).|EGF-like 27.		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.3165T>C	CCDS12326.1																																																																																				0.597	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		3	44	0	0	0	0	3	44				
DDA1	79016	broad.mit.edu	37	19	17430407	17430407	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:17430407C>G	ENST00000359866.4	+	5	375	c.251C>G	c.(250-252)tCc>tGc	p.S84C		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	84										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						GGCGAGAGCTCCGCACCTCCC	0.602																																						uc002ngd.2		NA																	0				ovary(1)	1						c.(250-252)TCC>TGC		DET1 and DDB1 associated 1							44.0	39.0	41.0					19																	17430407		2180	4273	6453	SO:0001583	missense	79016							g.chr19:17430407C>G	BC000615	CCDS12357.1	19p13.11	2008-02-05	2007-10-25	2007-10-25		ENSG00000130311			28360	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 58"""	C19orf58		17452440	Standard	NM_024050		Approved	PCIA1, MGC2594	uc002ngd.3	Q9BW61		ENST00000359866.4:c.251C>G	19.37:g.17430407C>G	ENSP00000352928:p.Ser84Cys					DDA1_uc002nge.2_Silent_p.L22L	p.S84C	NM_024050	NP_076955	Q9BW61	DDA1_HUMAN			5	378	+			84						Missense_Mutation	SNP	ENST00000359866.4	37	c.251C>G	CCDS12357.1	.	.	.	.	.	.	.	.	.	.	c	16.61	3.172336	0.57584	.	.	ENSG00000130311	ENST00000359866	.	.	.	4.33	4.33	0.51752	.	0.226092	0.38381	N	0.001708	T	0.46619	0.1402	L	0.29908	0.895	0.58432	D	0.999996	B	0.28512	0.214	B	0.27380	0.079	T	0.51148	-0.8742	9	0.59425	D	0.04	-5.9868	14.3557	0.66735	0.0:1.0:0.0:0.0	.	84	Q9BW61	DDA1_HUMAN	C	84	.	ENSP00000352928:S84C	S	+	2	0	DDA1	17291407	1.000000	0.71417	0.913000	0.36048	0.887000	0.51463	7.496000	0.81526	1.984000	0.57885	0.457000	0.33378	TCC		0.602	DDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463519.1	NM_024050		3	9	0	0	0	0	3	9				
SLC27A1	376497	broad.mit.edu	37	19	17615340	17615340	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:17615340C>T	ENST00000252595.7	+	12	1957	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	SLC27A1_ENST00000598848.1_3'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Silent_p.F441F|SLC27A1_ENST00000442725.1_Silent_p.F620F	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	620					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGCTCTTCTTCCTGGACCTGA	0.597																																						uc002ngu.1		NA																	0					0						c.(1858-1860)TTC>TTT		solute carrier family 27, member 1							84.0	72.0	76.0					19																	17615340		2203	4300	6503	SO:0001819	synonymous_variant	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17615340C>T	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1860C>T	19.37:g.17615340C>T						SLC27A1_uc010xpp.1_Silent_p.F441F|SLC27A1_uc002ngv.1_Silent_p.F222F	p.F620F	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN			12	1910	+			620			Cytoplasmic (Potential).		A6NIH2|B7Z662	Silent	SNP	ENST00000252595.7	37	c.1860C>T	CCDS32953.1																																																																																				0.597	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		24	65	0	0	0	0	24	65				
PDE4C	5143	broad.mit.edu	37	19	18324232	18324232	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:18324232C>G	ENST00000355502.3	-	17	2425	c.1554G>C	c.(1552-1554)aaG>aaC	p.K518N	AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594465.3_Missense_Mutation_p.K518N|PDE4C_ENST00000447275.3_Missense_Mutation_p.K412N|PDE4C_ENST00000598111.2_Missense_Mutation_p.K233N|PDE4C_ENST00000597297.1_Missense_Mutation_p.K288N|PDE4C_ENST00000539010.1_Missense_Mutation_p.K287N|PDE4C_ENST00000262805.12_Missense_Mutation_p.K486N|PDE4C_ENST00000594617.3_Missense_Mutation_p.K518N			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	518					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TTGTCACCTTCTTGGTCTCCA	0.562																																						uc010xqc.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1552-1554)AAG>AAC		phosphodiesterase 4C isoform PDE4C-2	Dyphylline(DB00651)						147.0	116.0	127.0					19																	18324232		2203	4300	6503	SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18324232C>G		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1554G>C	19.37:g.18324232C>G	ENSP00000347689:p.Lys518Asn					PDE4C_uc002nik.3_Missense_Mutation_p.K518N|PDE4C_uc002nil.3_Missense_Mutation_p.K518N|PDE4C_uc002nif.3_Missense_Mutation_p.K287N|PDE4C_uc002nig.3_Missense_Mutation_p.K233N|PDE4C_uc002nih.3_Missense_Mutation_p.K288N|PDE4C_uc010ebk.2_Missense_Mutation_p.K412N|PDE4C_uc002nii.3_Missense_Mutation_p.K486N|PDE4C_uc010ebl.2_Missense_Mutation_p.K232N	p.K518N	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			13	2034	-			518					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	c.1554G>C	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867319	0.51588	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.63	2.49	0.30216	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.74306	0.3699	L	0.54965	1.715	0.39084	D	0.960974	D;D;B;D	0.89917	1.0;0.965;0.239;0.988	D;P;B;D	0.91635	0.999;0.597;0.197;0.948	T	0.73436	-0.3983	10	0.54805	T	0.06	.	8.8775	0.35354	0.0:0.8124:0.0:0.1876	.	518;486;324;233	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	N	597;518;506;486;412;324;232;287;627	ENSP00000347689:K518N;ENSP00000262805:K486N;ENSP00000402091:K412N;ENSP00000439470:K287N	ENSP00000262805:K486N	K	-	3	2	PDE4C	18185232	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.855000	0.55957	0.400000	0.25396	0.555000	0.69702	AAG		0.562	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			15	19	0	0	0	0	15	19				
LSR	51599	broad.mit.edu	37	19	35739867	35739867	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:35739867C>G	ENST00000361790.3	+	1	245	c.86C>G	c.(85-87)cCg>cGg	p.P29R	AC002128.5_ENST00000604161.1_RNA|LSR_ENST00000360798.3_Missense_Mutation_p.P29R|LSR_ENST00000597933.1_Intron|LSR_ENST00000427250.1_5'Flank|LSR_ENST00000354900.3_Missense_Mutation_p.P29R|LSR_ENST00000347609.4_Missense_Mutation_p.P29R|LSR_ENST00000602122.1_Missense_Mutation_p.P29R	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	29					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGGTGCGCGCCGCGCCCCCTA	0.662																																						uc002nyl.2		NA																	0					0						c.(85-87)CCG>CGG		lipolysis stimulated lipoprotein receptor							36.0	38.0	37.0					19																	35739867		2202	4299	6501	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35739867C>G	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.86C>G	19.37:g.35739867C>G	ENSP00000354575:p.Pro29Arg					LSR_uc002nym.2_Missense_Mutation_p.P29R|LSR_uc002nyn.2_Missense_Mutation_p.P29R|LSR_uc002nyo.2_Missense_Mutation_p.P29R|LSR_uc010xsr.1_Missense_Mutation_p.P29R|LSR_uc002nyp.2_Missense_Mutation_p.P29R	p.P29R	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		1	309	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		29			Extracellular (Potential).		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.86C>G	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228813	0.58777	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609	T;T;T;T	0.61392	0.41;0.46;0.11;0.2	3.66	2.58	0.30949	.	0.255939	0.20748	N	0.086420	T	0.41650	0.1168	L	0.36672	1.1	0.80722	D	1	P;P;P;P;P	0.39737	0.685;0.685;0.685;0.557;0.557	B;B;B;B;B	0.33392	0.163;0.163;0.163;0.078;0.078	T	0.43410	-0.9393	10	0.72032	D	0.01	-7.3326	8.9824	0.35972	0.0:0.7729:0.2271:0.0	.	29;29;29;29;29	Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;LSR_HUMAN	R	29	ENSP00000354575:P29R;ENSP00000346976:P29R;ENSP00000354034:P29R;ENSP00000262627:P29R	ENSP00000262627:P29R	P	+	2	0	LSR	40431707	0.994000	0.37717	1.000000	0.80357	0.578000	0.36192	-0.040000	0.12104	1.080000	0.41073	0.491000	0.48974	CCG		0.662	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		4	27	0	0	0	0	4	27				
KIRREL2	84063	broad.mit.edu	37	19	36352524	36352524	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:36352524C>T	ENST00000360202.5	+	10	1469	c.1271C>T	c.(1270-1272)tCt>tTt	p.S424F	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.S374F|KIRREL2_ENST00000262625.7_Missense_Mutation_p.S424F|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S424F	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	424	Ig-like C2-type 5.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	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)			GTTTTCGCCTCTCCCGCCCCA	0.642																																						uc002ocb.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1270-1272)TCT>TTT		kin of IRRE-like 2 isoform c							123.0	120.0	121.0					19																	36352524		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36352524C>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1271C>T	19.37:g.36352524C>T	ENSP00000353331:p.Ser424Phe					KIRREL2_uc002obz.3_Missense_Mutation_p.S424F|KIRREL2_uc002oca.3_Missense_Mutation_p.S374F|KIRREL2_uc002occ.3_Missense_Mutation_p.S371F|KIRREL2_uc002ocd.3_Missense_Mutation_p.S421F	p.S424F	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1483	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		424			Ig-like C2-type 5.|Extracellular (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.1271C>T	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682243	0.68042	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.14144	2.53;2.53;2.53	4.5	4.5	0.54988	Immunoglobulin-like (1);	0.000000	0.43919	D	0.000512	T	0.28599	0.0708	L	0.43152	1.355	0.39244	D	0.963908	D;D;D;D;D	0.76494	0.998;0.997;0.998;0.997;0.999	D;D;D;D;D	0.83275	0.991;0.994;0.991;0.994;0.996	T	0.04752	-1.0929	10	0.87932	D	0	-24.0081	12.7189	0.57131	0.0:1.0:0.0:0.0	.	424;404;424;374;424	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	F	424;374;424;404	ENSP00000262625:S424F;ENSP00000345067:S374F;ENSP00000353331:S424F	ENSP00000262625:S424F	S	+	2	0	KIRREL2	41044364	0.917000	0.31117	0.985000	0.45067	0.668000	0.39293	2.158000	0.42329	2.058000	0.61347	0.555000	0.69702	TCT		0.642	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		38	104	0	0	0	0	38	104				
ZFP14	57677	broad.mit.edu	37	19	36853091	36853091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:36853091C>T	ENST00000270001.7	-	3	174	c.59G>A	c.(58-60)tGg>tAg	p.W20*	ZFP14_ENST00000589280.1_Nonsense_Mutation_p.W20*	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	20	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CAGGAATTCCCATTCTTCCTG	0.378																																						uc002odx.1		NA																	0				ovary(1)	1						c.(58-60)TGG>TAG		zinc finger protein 14-like							103.0	96.0	98.0					19																	36853091		2203	4300	6503	SO:0001587	stop_gained	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36853091C>T	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.59G>A	19.37:g.36853091C>T	ENSP00000270001:p.Trp20*					ZFP14_uc010xtd.1_Nonsense_Mutation_p.W20*|ZFP14_uc010eex.1_Nonsense_Mutation_p.W20*	p.W20*	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			2	152	-	Esophageal squamous(110;0.162)		20			KRAB.		A7MD23	Nonsense_Mutation	SNP	ENST00000270001.7	37	c.59G>A	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978914	0.92982	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	.	.	.	4.35	4.35	0.52113	.	0.000000	0.39475	N	0.001342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.547	0.56206	0.0:1.0:0.0:0.0	.	.	.	.	X	20	.	ENSP00000270001:W20X	W	-	2	0	ZFP14	41544931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.206000	0.58473	2.409000	0.81822	0.655000	0.94253	TGG		0.378	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		5	49	0	0	0	0	5	49				
ZNF540	163255	broad.mit.edu	37	19	38103198	38103198	+	Silent	SNP	C	C	T	rs372731444		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:38103198C>T	ENST00000592533.1	+	5	1349	c.1017C>T	c.(1015-1017)tgC>tgT	p.C339C	ZNF540_ENST00000343599.5_Silent_p.C339C|ZNF540_ENST00000316433.4_Silent_p.C339C|ZNF540_ENST00000589117.1_Silent_p.C307C	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	339					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTAGTGTATGCGGACAACTTA	0.353																																						uc002ogq.2		NA																	0				large_intestine(1)	1						c.(1015-1017)TGC>TGT		zinc finger protein 540		C	,,	1,4405	2.1+/-5.4	0,1,2202	72.0	70.0	70.0		1017,921,1017	-2.8	0.0	19		70	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF540	NM_001172225.1,NM_001172226.1,NM_152606.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	339/661,307/629,339/661	38103198	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	163255				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38103198C>T	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1017C>T	19.37:g.38103198C>T						ZNF540_uc002ogu.2_Silent_p.C339C|ZNF540_uc010efq.2_Silent_p.C307C	p.C339C	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1349	+			339			C2H2-type 6.		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Silent	SNP	ENST00000592533.1	37	c.1017C>T	CCDS12506.1																																																																																				0.353	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		5	58	0	0	0	0	5	58				
RYR1	6261	broad.mit.edu	37	19	39017636	39017636	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:39017636G>C	ENST00000359596.3	+	72	10630	c.10630G>C	c.(10630-10632)Gac>Cac	p.D3544H	RYR1_ENST00000355481.4_Missense_Mutation_p.D3539H|RYR1_ENST00000360985.3_Missense_Mutation_p.D3544H|AC067969.1_ENST00000597015.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3544					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCCCCAGAAAGACACAGATGA	0.542																																						uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(10630-10632)GAC>CAC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						93.0	81.0	85.0					19																	39017636		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39017636G>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10630G>C	19.37:g.39017636G>C	ENSP00000352608:p.Asp3544His					RYR1_uc002oiu.2_Missense_Mutation_p.D3539H|RYR1_uc002oiv.1_Missense_Mutation_p.D459H|RYR1_uc010xuf.1_Missense_Mutation_p.D464H	p.D3544H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		72	10760	+	all_cancers(60;7.91e-06)		3544					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.10630G>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957253	0.34565	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.97089	-4.24;-4.24;-4.24	4.62	4.62	0.57501	.	0.069729	0.53938	U	0.000057	D	0.98254	0.9422	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;0.991;0.984	D;P;P	0.91635	0.999;0.873;0.75	D	0.99208	1.0875	10	0.72032	D	0.01	.	16.4052	0.83662	0.0:0.0:1.0:0.0	.	3544;3539;3544	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	H	3544;3539;3544;464	ENSP00000352608:D3544H;ENSP00000347667:D3539H;ENSP00000354254:D3544H	ENSP00000347667:D3539H	D	+	1	0	RYR1	43709476	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	9.357000	0.97099	2.385000	0.81259	0.655000	0.94253	GAC		0.542	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			10	43	0	0	0	0	10	43				
CYP2A13	1553	broad.mit.edu	37	19	41596383	41596383	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:41596383C>T	ENST00000330436.3	+	4	568	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	190					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CTTTGGGGACCGCTTTGACTA	0.567																																						uc002opt.2		NA																	0				ovary(2)|skin(1)	3						c.(568-570)CGC>TGC		cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)						139.0	125.0	130.0					19																	41596383		2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41596383C>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.568C>T	19.37:g.41596383C>T	ENSP00000332679:p.Arg190Cys						p.R190C	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			4	577	+			190					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.568C>T	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	8.484	0.860562	0.17178	.	.	ENSG00000197838	ENST00000330436	T	0.01464	4.86	3.66	2.62	0.31277	.	0.075921	0.64402	U	0.000018	T	0.04227	0.0117	M	0.92923	3.36	0.44282	D	0.997146	P	0.40970	0.734	B	0.32211	0.142	T	0.21211	-1.0252	10	0.72032	D	0.01	.	10.2658	0.43453	0.0:0.8976:0.0:0.1024	.	190	Q16696	CP2AD_HUMAN	C	190	ENSP00000332679:R190C	ENSP00000332679:R190C	R	+	1	0	CYP2A13	46288223	0.943000	0.32029	0.995000	0.50966	0.052000	0.14988	2.093000	0.41710	0.751000	0.32900	-1.152000	0.01820	CGC		0.567	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		30	74	0	0	0	0	30	74				
ATP1A3	478	broad.mit.edu	37	19	42485787	42485787	+	Splice_Site	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:42485787C>T	ENST00000302102.5	-	11	1454	c.1304G>A	c.(1303-1305)aGg>aAg	p.R435K	ATP1A3_ENST00000543770.1_Splice_Site_p.R446K|ATP1A3_ENST00000545399.1_Splice_Site_p.R448K|ATP1A3_ENST00000602133.1_Splice_Site_p.R405K	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	435					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGCCACATCCCTCTGCAAGGA	0.592																																						uc002osg.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1303-1305)AGG>AAG		Na+/K+ -ATPase alpha 3 subunit							75.0	61.0	66.0					19																	42485787		2203	4300	6503	SO:0001630	splice_region_variant	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42485787C>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1303-1G>A	19.37:g.42485787C>T						ATP1A3_uc010xwf.1_Missense_Mutation_p.R446K|ATP1A3_uc010xwg.1_Missense_Mutation_p.R405K|ATP1A3_uc010xwh.1_Missense_Mutation_p.R448K|ATP1A3_uc002osh.2_Missense_Mutation_p.R435K	p.R435K	NM_152296	NP_689509	P13637	AT1A3_HUMAN			11	1458	-			435			Cytoplasmic (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.1304G>A	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215551	0.58452	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98	3.87	3.87	0.44632	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.048524	0.85682	D	0.000000	D	0.95310	0.8478	L	0.45581	1.43	0.80722	D	1	B;B;P;B	0.39809	0.061;0.043;0.689;0.053	B;B;P;P	0.47827	0.091;0.331;0.558;0.461	D	0.94156	0.7410	10	0.35671	T	0.21	.	14.1208	0.65186	0.0:1.0:0.0:0.0	.	448;446;435;435	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	K	435;435;448;405;179;446	ENSP00000302397:R435K;ENSP00000411503:R435K;ENSP00000444688:R448K;ENSP00000437577:R446K	ENSP00000302397:R435K	R	-	2	0	ATP1A3	47177627	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	7.548000	0.82154	2.445000	0.82738	0.555000	0.69702	AGG		0.592	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296	Missense_Mutation	5	32	0	0	0	0	5	32				
CIC	23152	broad.mit.edu	37	19	42794752	42794752	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:42794752C>T	ENST00000575354.2	+	10	1872	c.1832C>T	c.(1831-1833)cCa>cTa	p.P611L	CIC_ENST00000572681.2_Missense_Mutation_p.P1520L|CIC_ENST00000160740.3_Missense_Mutation_p.P611L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	611	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGCCTGGAGCCACCAGGCCCC	0.657			"""Mis, F, S"""		oligodendroglioma																																	uc002otf.1		NA		Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		0				ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(1831-1833)CCA>CTA		capicua homolog							46.0	54.0	51.0					19																	42794752		2202	4295	6497	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794752C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1832C>T	19.37:g.42794752C>T	ENSP00000458663:p.Pro611Leu						p.P611L	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			10	1872	+		Prostate(69;0.00682)	611			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.1832C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	9.483	1.098615	0.20552	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	T	0.42359	0.1199	N	0.14661	0.345	0.36020	D	0.838662	B	0.23377	0.084	B	0.19666	0.026	T	0.52734	-0.8536	8	0.87932	D	0	-4.3437	13.9108	0.63866	0.0:1.0:0.0:0.0	.	611	Q96RK0	CIC_HUMAN	L	611	.	ENSP00000160740:P611L	P	+	2	0	CIC	47486592	0.577000	0.26708	0.986000	0.45419	0.734000	0.41952	3.966000	0.56795	2.432000	0.82394	0.491000	0.48974	CCA		0.657	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	103	0	0	0	0	8	103				
ZNF155	7711	broad.mit.edu	37	19	44500612	44500612	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:44500612G>C	ENST00000270014.2	+	5	731	c.603G>C	c.(601-603)gaG>gaC	p.E201D	ZNF155_ENST00000590615.1_Missense_Mutation_p.E201D|ZNF155_ENST00000407951.2_Missense_Mutation_p.E212D|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	201					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				ACGTGGGAGAGAAACTCTTTA	0.413																																					NSCLC(61;554 1277 20909 42067 42312)	uc002oxy.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(601-603)GAG>GAC		zinc finger protein 155							163.0	154.0	157.0					19																	44500612		2203	4300	6503	SO:0001583	missense	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44500612G>C	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.603G>C	19.37:g.44500612G>C	ENSP00000270014:p.Glu201Asp					ZNF155_uc002oxz.1_Missense_Mutation_p.E201D|ZNF155_uc010xwt.1_Missense_Mutation_p.E212D	p.E201D	NM_003445	NP_003436	Q12901	ZN155_HUMAN			5	808	+		Prostate(69;0.0352)	201					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	c.603G>C	CCDS12634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.526|8.526	0.869957|0.869957	0.17322|0.17322	.|.	.|.	ENSG00000204920|ENSG00000204920	ENST00000407951;ENST00000270014|ENST00000425747	T;T|.	0.26810|.	1.71;1.71|.	2.72|2.72	-2.87|-2.87	0.05700|0.05700	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.27629|0.27629	0.0679|0.0679	L|L	0.42581|0.42581	1.335|1.335	0.09310|0.09310	N|N	1|1	B;B|.	0.15473|.	0.0;0.013|.	B;B|.	0.15870|.	0.002;0.014|.	T|T	0.36016|0.36016	-0.9765|-0.9765	9|6	0.56958|0.72032	D|D	0.05|0.01	.|.	1.3646|1.3646	0.02198|0.02198	0.2962:0.1458:0.4101:0.1479|0.2962:0.1458:0.4101:0.1479	.|.	212;201|.	B4DM95;Q12901|.	.;ZN155_HUMAN|.	D|T	212;201|75	ENSP00000385163:E212D;ENSP00000270014:E201D|.	ENSP00000270014:E201D|ENSP00000401576:R75T	E|R	+|+	3|2	2|0	ZNF155|ZNF155	49192452|49192452	0.062000|0.062000	0.20869|0.20869	0.001000|0.001000	0.08648|0.08648	0.014000|0.014000	0.08584|0.08584	-0.406000|-0.406000	0.07187|0.07187	-0.687000|-0.687000	0.05162|0.05162	-0.491000|-0.491000	0.04670|0.04670	GAG|AGA		0.413	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		35	135	0	0	0	0	35	135				
CD3EAP	10849	broad.mit.edu	37	19	45910389	45910389	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:45910389G>A	ENST00000309424.3	+	2	548	c.60G>A	c.(58-60)gcG>gcA	p.A20A	CD3EAP_ENST00000589804.1_Silent_p.A22A|PPP1R13L_ENST00000360957.5_5'Flank|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	20					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		ACTTTACCGCGAAGCCCCCAG	0.612																																						uc002pbq.1		NA																	0				large_intestine(2)|ovary(2)	4						c.(58-60)GCG>GCA		CD3E antigen, epsilon polypeptide associated							99.0	94.0	96.0					19																	45910389		2203	4300	6503	SO:0001819	synonymous_variant	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45910389G>A	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.60G>A	19.37:g.45910389G>A						PPP1R13L_uc002pbn.2_5'Flank|PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Silent_p.A22A	p.A20A	NM_012099	NP_036231	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	2	548	+		all_neural(266;0.224)|Ovarian(192;0.231)	20					Q32N11|Q7Z5U2|Q9UPF6	Silent	SNP	ENST00000309424.3	37	c.60G>A	CCDS12661.1																																																																																				0.612	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		30	76	0	0	0	0	30	76				
PRRG2	5639	broad.mit.edu	37	19	50087180	50087180	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:50087180G>T	ENST00000246794.5	+	4	441	c.272G>T	c.(271-273)tGg>tTg	p.W91L	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	91	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		GAGCGCTTTTGGGAGAGCTAC	0.527																																						uc002pon.3		NA																	0				skin(1)	1						c.(271-273)TGG>TTG		proline rich Gla (G-carboxyglutamic acid) 2							136.0	127.0	130.0					19																	50087180		2203	4300	6503	SO:0001583	missense	5639					extracellular region|integral to plasma membrane	calcium ion binding	g.chr19:50087180G>T		CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"""			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.272G>T	19.37:g.50087180G>T	ENSP00000246794:p.Trp91Leu					PRRG2_uc010yaz.1_Missense_Mutation_p.W68L	p.W91L	NM_000951	NP_000942	O14669	TMG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)	4	437	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	91			Gla.|Extracellular (Potential).		Q6IBF8	Missense_Mutation	SNP	ENST00000246794.5	37	c.272G>T	CCDS12773.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935077	0.52866	.	.	ENSG00000126460	ENST00000246794;ENST00000543867	D	0.99545	-6.13	5.69	5.69	0.88448	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	M	0.93638	3.44	0.41539	D	0.988503	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.97649	1.0153	10	0.72032	D	0.01	-17.6157	15.3751	0.74598	0.0:0.0:1.0:0.0	.	68;91	F5GZ13;O14669	.;TMG2_HUMAN	L	91;68	ENSP00000246794:W91L	ENSP00000246794:W91L	W	+	2	0	PRRG2	54778992	1.000000	0.71417	0.996000	0.52242	0.085000	0.17905	4.792000	0.62467	2.706000	0.92434	0.650000	0.86243	TGG		0.527	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465257.1	NM_000951		6	82	1	0	0.00198382	0.00263853	6	82				
ZNF836	162962	broad.mit.edu	37	19	52659522	52659522	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:52659522A>G	ENST00000322146.8	-	5	1935	c.1414T>C	c.(1414-1416)Tgc>Cgc	p.C472R	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.C472R	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CATTCATTGCATTTGTAAGGT	0.418																																						uc010ydi.1		NA																	0					0						c.(1414-1416)TGC>CGC		zinc finger protein 836							137.0	141.0	140.0					19																	52659522		2203	4300	6503	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52659522A>G	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1414T>C	19.37:g.52659522A>G	ENSP00000325038:p.Cys472Arg					ZNF836_uc010ydj.1_Missense_Mutation_p.C472R	p.C472R	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN			5	1788	-			472			C2H2-type 10.			Missense_Mutation	SNP	ENST00000322146.8	37	c.1414T>C	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.399231	0.25291	.	.	ENSG00000196267	ENST00000322146	D	0.85258	-1.96	2.15	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93684	0.7982	H	0.98089	4.145	0.43874	D	0.99648	D	0.89917	1.0	D	0.97110	1.0	D	0.89944	0.4075	9	0.87932	D	0	.	5.1953	0.15233	0.8406:0.0:0.1594:0.0	.	472	Q6ZNA1	ZN836_HUMAN	R	472	ENSP00000325038:C472R	ENSP00000325038:C472R	C	-	1	0	ZNF836	57351334	1.000000	0.71417	0.279000	0.24732	0.197000	0.23852	5.675000	0.68123	0.078000	0.16900	0.397000	0.26171	TGC		0.418	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		11	131	0	0	0	0	11	131				
ZNF415	55786	broad.mit.edu	37	19	53612343	53612343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:53612343G>A	ENST00000500065.4	-	4	1288	c.955C>T	c.(955-957)Cag>Tag	p.Q319*	ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.Q331*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.Q319*|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000455735.2_Nonsense_Mutation_p.Q367*|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.Q306*|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.Q367*|ZNF415_ENST00000601493.1_Nonsense_Mutation_p.Q89*	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGAGTTTTCTGATGTAGTGCA	0.418																																						uc002qax.2		NA																	0				ovary(1)	1						c.(1099-1101)CAG>TAG		RecName: Full=Zinc finger protein 415;							88.0	82.0	84.0					19																	53612343		2203	4300	6503	SO:0001587	stop_gained	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612343G>A	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.955C>T	19.37:g.53612343G>A	ENSP00000439435:p.Gln319*					ZNF415_uc002qat.2_Nonsense_Mutation_p.Q331*|ZNF415_uc002qaw.2_Nonsense_Mutation_p.Q319*|ZNF415_uc010yds.1_Nonsense_Mutation_p.Q319*|ZNF415_uc010ydt.1_Nonsense_Mutation_p.Q319*|ZNF415_uc002qau.2_Nonsense_Mutation_p.Q306*|ZNF415_uc002qav.2_Nonsense_Mutation_p.Q331*|ZNF415_uc002qba.2_Nonsense_Mutation_p.Q89*|ZNF415_uc002qay.2_Nonsense_Mutation_p.Q306*|ZNF415_uc002qaz.2_Nonsense_Mutation_p.Q367*	p.Q367*	NR_028343		Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1448	-			367			C2H2-type 4.		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Nonsense_Mutation	SNP	ENST00000500065.4	37	c.1099C>T	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797166	0.70567	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	.	.	.	2.78	1.72	0.24424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	1.7403	0.02951	0.128:0.2015:0.4648:0.2056	.	.	.	.	X	319;319;367;331;367;306	.	ENSP00000243643:Q319X	Q	-	1	0	ZNF415	58304155	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-2.047000	0.01408	0.513000	0.28278	0.491000	0.48974	CAG		0.418	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		21	44	0	0	0	0	21	44				
ZNF582	147948	broad.mit.edu	37	19	56896256	56896256	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:56896256C>G	ENST00000301310.4	-	5	688	c.530G>C	c.(529-531)aGa>aCa	p.R177T	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.R177T	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GAAGTCTTTTCTACATTTATT	0.328																																					Ovarian(183;1887 2032 4349 30507 51343)	uc002qmz.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(529-531)AGA>ACA		zinc finger protein 582							66.0	69.0	68.0					19																	56896256		2203	4300	6503	SO:0001583	missense	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56896256C>G	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.530G>C	19.37:g.56896256C>G	ENSP00000301310:p.Arg177Thr					ZNF582_uc002qmy.2_Missense_Mutation_p.R208T	p.R177T	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	689	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	177			C2H2-type 1; degenerate.		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	c.530G>C	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268431	0.40095	.	.	ENSG00000018869	ENST00000301310	T	0.15017	2.46	4.63	-0.201	0.13212	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.417692	0.17833	N	0.160461	T	0.10423	0.0255	N	0.25380	0.74	0.23168	N	0.998182	B;B	0.33073	0.396;0.001	B;B	0.29176	0.099;0.001	T	0.17868	-1.0355	10	0.62326	D	0.03	.	9.6663	0.39986	0.0:0.6919:0.0:0.3081	.	177;208	Q96NG8;B4DQZ9	ZN582_HUMAN;.	T	177	ENSP00000301310:R177T	ENSP00000301310:R177T	R	-	2	0	ZNF582	61588068	0.000000	0.05858	0.002000	0.10522	0.330000	0.28571	-0.875000	0.04205	-0.000000	0.14550	0.591000	0.81541	AGA		0.328	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		27	47	0	0	0	0	27	47				
ZNF274	10782	broad.mit.edu	37	19	58721350	58721350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:58721350G>A	ENST00000326804.4	+	7	1219	c.760G>A	c.(760-762)Gag>Aag	p.E254K	ZNF274_ENST00000345813.3_Missense_Mutation_p.E222K|ZNF274_ENST00000424679.2_Missense_Mutation_p.E149K|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ACAACCTGCCGAGGGCACCAC	0.637																																						uc002qrq.1		NA																	0				ovary(1)	1						c.(763-765)GAG>AAG		zinc finger protein 274 isoform c							39.0	44.0	42.0					19																	58721350		2135	4242	6377	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58721350G>A	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.760G>A	19.37:g.58721350G>A	ENSP00000321209:p.Glu254Lys					ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_RNA|ZNF274_uc002qrr.1_Missense_Mutation_p.E223K|ZNF274_uc002qrs.1_Missense_Mutation_p.E150K|ZNF274_uc010eum.1_Missense_Mutation_p.E14K	p.E255K	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	8	1222	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	255					Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.763G>A		.	.	.	.	.	.	.	.	.	.	G	6.370	0.436421	0.12104	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.06849	3.33;3.25;3.28	2.62	0.391	0.16282	Transcription regulator SCAN (1);	.	.	.	.	T	0.03434	0.0099	.	.	.	0.09310	N	1	B;B;B	0.33022	0.394;0.394;0.273	B;B;B	0.25614	0.062;0.042;0.028	T	0.44360	-0.9333	8	0.17832	T	0.49	.	3.8273	0.08859	0.0:0.5651:0.2771:0.1578	.	150;223;255	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	K	254;222;149	ENSP00000321209:E254K;ENSP00000321187:E222K;ENSP00000409872:E149K	ENSP00000321209:E254K	E	+	1	0	ZNF274	63413162	0.013000	0.17824	0.000000	0.03702	0.004000	0.04260	0.221000	0.17680	0.180000	0.19960	-0.171000	0.13296	GAG		0.637	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		10	27	0	0	0	0	10	27				
ZNF584	201514	broad.mit.edu	37	19	58928446	58928446	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:58928446C>T	ENST00000306910.4	+	4	1084	c.561C>T	c.(559-561)ttC>ttT	p.F187F	ZNF584_ENST00000322834.7_3'UTR|CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000593920.1_Silent_p.F142F|ZNF584_ENST00000596921.1_3'UTR|ZNF584_ENST00000599238.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|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;0.0271)		AGAGACCCTTCAGATGCCCAA	0.468																																						uc002qsp.2		NA																	0					0						c.(559-561)TTC>TTT		zinc finger protein 584							62.0	56.0	58.0					19																	58928446		2203	4300	6503	SO:0001819	synonymous_variant	201514				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58928446C>T	AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"""Zinc fingers, C2H2-type"", ""-"""	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.561C>T	19.37:g.58928446C>T						ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Silent_p.F142F|ZNF584_uc010yib.1_3'UTR	p.F187F	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)	4	1013	+		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	187					A8K203	Silent	SNP	ENST00000306910.4	37	c.561C>T	CCDS12979.1																																																																																				0.468	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548		10	31	0	0	0	0	10	31				
ZNF324B	388569	broad.mit.edu	37	19	58967529	58967529	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:58967529C>T	ENST00000336614.4	+	4	1325	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	ZNF324B_ENST00000545523.1_Silent_p.F406F|ZNF324B_ENST00000391696.1_Silent_p.F396F	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		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)		GTGCTGCCTTCAGCCAGGGCT	0.662																																						uc002qsv.1		NA																	0				ovary(1)	1						c.(1216-1218)TTC>TTT		zinc finger protein 324B							51.0	51.0	51.0					19																	58967529		2203	4300	6503	SO:0001819	synonymous_variant	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967529C>T	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1218C>T	19.37:g.58967529C>T						ZNF324B_uc002qsu.1_Silent_p.F396F|ZNF324B_uc010euq.1_Silent_p.F406F	p.F406F	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1325	+		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)	406			C2H2-type 6.		B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	ENST00000336614.4	37	c.1218C>T	CCDS33138.1																																																																																				0.662	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		5	58	0	0	0	0	5	58				
KIF3C	3797	broad.mit.edu	37	2	26204430	26204430	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:26204430G>C	ENST00000264712.3	-	1	936	c.357C>G	c.(355-357)gtC>gtG	p.V119V	KIF3C_ENST00000405914.1_Silent_p.V119V	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	119	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTCGGGATGACCCCGCGCA	0.587																																						uc002rgu.2		NA																	0				ovary(3)|skin(1)	4						c.(355-357)GTC>GTG		kinesin family member 3C							85.0	79.0	81.0					2																	26204430		2203	4300	6503	SO:0001819	synonymous_variant	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26204430G>C		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.357C>G	2.37:g.26204430G>C						KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Silent_p.V119V	p.V119V	NM_002254	NP_002245	O14782	KIF3C_HUMAN			1	1014	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		119			Kinesin-motor.		O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	ENST00000264712.3	37	c.357C>G	CCDS1719.1																																																																																				0.587	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			23	65	0	0	0	0	23	65				
C2orf16	84226	broad.mit.edu	37	2	27804899	27804899	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:27804899G>C	ENST00000408964.2	+	1	5511	c.5460G>C	c.(5458-5460)agG>agC	p.R1820S	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000413371.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1820	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCTTGGAGAGGAGCCATCGCA	0.542																																						uc002rkz.3		NA																	0				large_intestine(1)	1						c.(5458-5460)AGG>AGC		hypothetical protein LOC84226							95.0	98.0	97.0					2																	27804899		1921	4117	6038	SO:0001583	missense	84226							g.chr2:27804899G>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5460G>C	2.37:g.27804899G>C	ENSP00000386190:p.Arg1820Ser					ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.R1820S	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	5511	+	Acute lymphoblastic leukemia(172;0.155)		1820			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5460G>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	g	9.692	1.152150	0.21371	.	.	ENSG00000221843	ENST00000408964	T	0.07114	3.22	3.29	0.453	0.16639	.	.	.	.	.	T	0.07188	0.0182	L	0.56769	1.78	0.09310	N	1	B	0.25312	0.123	B	0.19666	0.026	T	0.44726	-0.9309	9	0.11794	T	0.64	.	4.4418	0.11577	0.2123:0.0:0.6095:0.1783	.	1820	Q68DN1	CB016_HUMAN	S	1820	ENSP00000386190:R1820S	ENSP00000386190:R1820S	R	+	3	2	C2orf16	27658403	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.068000	0.03447	0.070000	0.16634	-0.355000	0.07637	AGG		0.542	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		38	93	0	0	0	0	38	93				
BIRC6	57448	broad.mit.edu	37	2	32667175	32667175	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:32667175G>A	ENST00000421745.2	+	18	4121	c.3987G>A	c.(3985-3987)gaG>gaA	p.E1329E		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1329					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATTTCATGAGAAGCTTGTTA	0.378																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(3985-3987)GAG>GAA		baculoviral IAP repeat-containing 6							61.0	65.0	64.0					2																	32667175		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32667175G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.3987G>A	2.37:g.32667175G>A							p.E1329E	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			18	4121	+	Acute lymphoblastic leukemia(172;0.155)		1329					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.3987G>A	CCDS33175.2																																																																																				0.378	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		16	59	0	0	0	0	16	59				
SRSF7	6432	broad.mit.edu	37	2	38977291	38977291	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:38977291C>G	ENST00000313117.6	-	2	311	c.74G>C	c.(73-75)gGa>gCa	p.G25A	SRSF7_ENST00000446327.2_Missense_Mutation_p.G25A|GEMIN6_ENST00000409011.1_5'Flank|SRSF7_ENST00000409276.1_Missense_Mutation_p.G25A	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	25	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TTCTAACTCTCCTTTGCCAGC	0.423																																						uc002rqz.2		NA																	0					0						c.(73-75)GGA>GCA		splicing factor, arginine/serine-rich 7							116.0	113.0	114.0					2																	38977291		2203	4300	6503	SO:0001583	missense	6432				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr2:38977291C>G	L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"""Zinc fingers, CCHC domain containing"", ""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10789	protein-coding gene	gene with protein product	"""SR splicing factor 7"""	600572	"""splicing factor, arginine/serine-rich 7 (35kD)"", ""splicing factor, arginine/serine-rich 7, 35kDa"""	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.74G>C	2.37:g.38977291C>G	ENSP00000325905:p.Gly25Ala					SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.G25A|GEMIN6_uc002rrb.2_5'Flank	p.G25A	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN			2	312	-		all_hematologic(82;0.248)	25			RRM.		B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	c.74G>C	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.313643	0.23908	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	T;T;T	0.14766	2.48;2.48;2.48	6.07	6.07	0.98685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	T	0.09905	0.0243	N	0.03891	-0.335	0.80722	D	1	B;B	0.25441	0.126;0.071	B;B	0.34346	0.113;0.18	T	0.44267	-0.9339	10	0.21014	T	0.42	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	25;25	G5E9M3;Q16629	.;SRSF7_HUMAN	A	25	ENSP00000325905:G25A;ENSP00000402264:G25A;ENSP00000386806:G25A	ENSP00000325905:G25A	G	-	2	0	SRSF7	38830795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.946000	0.56644	2.885000	0.99019	0.655000	0.94253	GGA		0.423	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		6	72	0	0	0	0	6	72				
MCFD2	90411	broad.mit.edu	37	2	47136232	47136232	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:47136232C>T	ENST00000409105.1	-	3	258	c.79G>A	c.(79-81)Gag>Aag	p.E27K	MCFD2_ENST00000319466.4_Missense_Mutation_p.E27K|AC016722.4_ENST00000429761.1_RNA|MCFD2_ENST00000409913.1_Intron|MCFD2_ENST00000409973.1_Missense_Mutation_p.E27K|MCFD2_ENST00000409147.1_Intron|MCFD2_ENST00000444761.2_Intron|MCFD2_ENST00000493804.1_Intron|MCFD2_ENST00000409800.1_Intron|MCFD2_ENST00000409207.1_Missense_Mutation_p.E27K|MCFD2_ENST00000409218.1_Missense_Mutation_p.E27K	NM_001171506.2	NP_001164977.1	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	27					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	GCAGGCTCCTCAGCCCTGGCG	0.592																																						uc002rvk.2		NA																	0				central_nervous_system(1)	1						c.(79-81)GAG>AAG		multiple coagulation factor deficiency 2	Antihemophilic Factor(DB00025)						55.0	56.0	56.0					2																	47136232		2203	4300	6503	SO:0001583	missense	90411				post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	calcium ion binding	g.chr2:47136232C>T	AF475284	CCDS33192.1, CCDS54354.1, CCDS54355.1	2p21	2014-09-17			ENSG00000180398	ENSG00000180398		"""EF-hand domain containing"""	18451	protein-coding gene	gene with protein product		607788				12717434, 2463956	Standard	NM_139279		Approved	F5F8D, LMAN1IP, SDNSF	uc021vha.1	Q8NI22	OTTHUMG00000153100	ENST00000409105.1:c.79G>A	2.37:g.47136232C>T	ENSP00000386651:p.Glu27Lys					MCFD2_uc002rvl.2_Intron|MCFD2_uc010fba.2_Missense_Mutation_p.E25K|MCFD2_uc010yof.1_Intron	p.E27K	NM_139279	NP_644808	Q8NI22	MCFD2_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		2	173	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	27					A8K7W2|D6W5A9|E9PD95|Q53SS3|Q68D61|Q8N3M5	Missense_Mutation	SNP	ENST00000409105.1	37	c.79G>A	CCDS33192.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015703	0.35606	.	.	ENSG00000180398	ENST00000409105;ENST00000319466;ENST00000409207;ENST00000409973;ENST00000409218;ENST00000412438;ENST00000417180	D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.23	0.0715	0.14382	.	0.542877	0.21549	N	0.072779	T	0.75474	0.3854	N	0.24115	0.695	0.39493	D	0.968088	B	0.09022	0.002	B	0.06405	0.002	T	0.61850	-0.6978	10	0.18276	T	0.48	-10.783	19.2544	0.93940	0.0:0.4479:0.5521:0.0	.	27	Q8NI22	MCFD2_HUMAN	K	27	ENSP00000386651:E27K;ENSP00000317271:E27K;ENSP00000386386:E27K;ENSP00000386279:E27K;ENSP00000386261:E27K;ENSP00000402717:E27K	ENSP00000317271:E27K	E	-	1	0	MCFD2	46989736	0.012000	0.17670	0.021000	0.16686	0.644000	0.38419	0.045000	0.14013	-0.167000	0.10871	0.462000	0.41574	GAG		0.592	MCFD2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329518.1	NM_139279		13	40	0	0	0	0	13	40				
SPTBN1	6711	broad.mit.edu	37	2	54856684	54856684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:54856684G>T	ENST00000356805.4	+	14	2694	c.2413G>T	c.(2413-2415)Gaa>Taa	p.E805*	SPTBN1_ENST00000333896.5_Nonsense_Mutation_p.E792*	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	805					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.E805K(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CACGCTGCACGAACAAGCCAG	0.607																																						uc002rxu.2		NA																	1	Substitution - Missense(1)		skin(1)	ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(2413-2415)GAA>TAA		spectrin, beta, non-erythrocytic 1 isoform 1							74.0	72.0	73.0					2																	54856684		2203	4300	6503	SO:0001587	stop_gained	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856684G>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2413G>T	2.37:g.54856684G>T	ENSP00000349259:p.Glu805*					SPTBN1_uc002rxv.1_Nonsense_Mutation_p.E805*|SPTBN1_uc002rxx.2_Nonsense_Mutation_p.E792*	p.E805*	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		14	2662	+			805			Spectrin 5.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Nonsense_Mutation	SNP	ENST00000356805.4	37	c.2413G>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	42	9.224860	0.99106	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	.	.	.	X	805;792	.	ENSP00000334156:E792X	E	+	1	0	SPTBN1	54710188	1.000000	0.71417	0.999000	0.59377	0.771000	0.43674	9.807000	0.99171	2.749000	0.94314	0.655000	0.94253	GAA		0.607	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			18	55	1	0	1.68e-08	2.3e-08	18	55				
CLHC1	130162	broad.mit.edu	37	2	55403114	55403114	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:55403114C>G	ENST00000401408.1	-	13	1918	c.1573G>C	c.(1573-1575)Gaa>Caa	p.E525Q	CLHC1_ENST00000406437.2_Missense_Mutation_p.E76Q|CLHC1_ENST00000406076.1_Missense_Mutation_p.E403Q|CLHC1_ENST00000494539.1_5'UTR|CLHC1_ENST00000407122.1_Missense_Mutation_p.E525Q	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	525																	ATAAGACTTTCTACTGCATCT	0.299																																						uc002ryi.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1573-1575)GAA>CAA		hypothetical protein LOC130162 isoform 1							77.0	77.0	77.0					2																	55403114		2203	4300	6503	SO:0001583	missense	130162						binding	g.chr2:55403114C>G		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.1573G>C	2.37:g.55403114C>G	ENSP00000384869:p.Glu525Gln					C2orf63_uc002ryh.2_Missense_Mutation_p.E76Q|C2orf63_uc002ryj.2_Missense_Mutation_p.E403Q	p.E525Q	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)		13	1919	-			525					B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	c.1573G>C	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563513	0.27915	.	.	ENSG00000162994	ENST00000406437;ENST00000407122;ENST00000401408;ENST00000406076	T;T;T;T	0.37058	1.22;2.12;2.12;2.12	5.91	5.0	0.66597	.	0.064526	0.64402	D	0.000019	T	0.56746	0.2006	M	0.73598	2.24	0.18873	N	0.999985	D	0.89917	1.0	D	0.66716	0.946	T	0.53549	-0.8423	10	0.59425	D	0.04	-20.2455	11.3787	0.49743	0.0:0.9098:0.0:0.0902	.	525	Q8NHS4	CB063_HUMAN	Q	76;525;525;403	ENSP00000384810:E76Q;ENSP00000385778:E525Q;ENSP00000384869:E525Q;ENSP00000385512:E403Q	ENSP00000384869:E525Q	E	-	1	0	C2orf63	55256618	0.277000	0.24220	0.116000	0.21606	0.103000	0.19146	1.687000	0.37680	1.424000	0.47217	-0.355000	0.07637	GAA		0.299	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		9	27	0	0	0	0	9	27				
PROKR1	10887	broad.mit.edu	37	2	68882429	68882429	+	Silent	SNP	C	C	T	rs374654942		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:68882429C>T	ENST00000303786.3	+	3	1323	c.903C>T	c.(901-903)taC>taT	p.Y301Y	PROKR1_ENST00000394342.2_Silent_p.Y301Y			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	301					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CGCCCTTCTACGGCTTCACCA	0.587																																						uc010yqj.1		NA																	0				ovary(1)	1						c.(901-903)TAC>TAT		G protein-coupled receptor 73		C		1,4405	2.1+/-5.4	0,1,2202	129.0	99.0	109.0		903	-5.1	0.7	2		109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PROKR1	NM_138964.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		301/394	68882429	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882429C>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.903C>T	2.37:g.68882429C>T						PROKR1_uc002ses.2_RNA	p.Y301Y	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN			2	903	+			301			Helical; Name=6; (Potential).		A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	ENST00000303786.3	37	c.903C>T	CCDS1889.1																																																																																				0.587	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			18	45	0	0	0	0	18	45				
ZNF638	27332	broad.mit.edu	37	2	71576307	71576307	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:71576307C>G	ENST00000409544.1	+	2	853	c.223C>G	c.(223-225)Caa>Gaa	p.Q75E	ZNF638_ENST00000355812.3_Missense_Mutation_p.Q75E|ZNF638_ENST00000264447.4_Missense_Mutation_p.Q75E|ZNF638_ENST00000377802.2_Missense_Mutation_p.Q75E|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	75					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCAGGTAACTCAACACAGAAC	0.463																																						uc002shx.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(223-225)CAA>GAA		zinc finger protein 638							117.0	116.0	116.0					2																	71576307		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71576307C>G	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.223C>G	2.37:g.71576307C>G	ENSP00000386433:p.Gln75Glu					ZNF638_uc010fec.2_Missense_Mutation_p.Q181E|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.Q75E|ZNF638_uc002shy.2_Missense_Mutation_p.Q75E|ZNF638_uc002shz.2_Missense_Mutation_p.Q75E|ZNF638_uc002sia.2_Missense_Mutation_p.Q75E|ZNF638_uc002sib.1_Missense_Mutation_p.Q75E	p.Q75E	NM_014497	NP_055312	Q14966	ZN638_HUMAN			2	542	+			75					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.223C>G	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537520	0.45176	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544;ENST00000437658	T;T;T;T;T;T;T	0.73469	-0.16;-0.75;0.42;-0.15;1.41;1.41;0.88	5.48	5.48	0.80851	.	0.485593	0.20745	N	0.086471	T	0.75946	0.3919	N	0.19112	0.55	0.32334	N	0.560698	D;P;D;D;D	0.58268	0.979;0.917;0.982;0.969;0.979	D;P;D;D;D	0.70227	0.92;0.878;0.968;0.93;0.92	T	0.79288	-0.1865	10	0.52906	T	0.07	-4.0913	12.5629	0.56293	0.0:0.8328:0.1672:0.0	.	181;75;75;75;75	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	E	75;181;75;75;75;75;75	ENSP00000386669:Q75E;ENSP00000438189:Q181E;ENSP00000348066:Q75E;ENSP00000367033:Q75E;ENSP00000264447:Q75E;ENSP00000386433:Q75E;ENSP00000388164:Q75E	ENSP00000264447:Q75E	Q	+	1	0	ZNF638	71429815	0.998000	0.40836	0.994000	0.49952	0.998000	0.95712	3.862000	0.56009	2.579000	0.87056	0.591000	0.81541	CAA		0.463	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		3	95	0	0	0	0	3	95				
ALMS1	7840	broad.mit.edu	37	2	73676052	73676052	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:73676052A>G	ENST00000264448.6	+	8	2506	c.2395A>G	c.(2395-2397)Aag>Gag	p.K799E	ALMS1_ENST00000409009.1_Missense_Mutation_p.K757E|ALMS1_ENST00000377715.1_Missense_Mutation_p.K799E	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	799	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGCTGACCAGAAGACTGGCCT	0.488																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(2401-2403)AAG>GAG		Alstrom syndrome 1							111.0	112.0	112.0					2																	73676052		1897	4104	6001	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73676052A>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2395A>G	2.37:g.73676052A>G	ENSP00000264448:p.Lys799Glu					ALMS1_uc002sjf.1_Missense_Mutation_p.K757E|ALMS1_uc002sjg.2_Missense_Mutation_p.K187E|ALMS1_uc002sjh.1_Missense_Mutation_p.K187E	p.K801E	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	2512	+			799			6.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.2401A>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.164586	0.38217	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.20200	2.96;2.96;2.09	4.42	0.769	0.18492	.	0.241577	0.29624	N	0.011640	T	0.30479	0.0766	L	0.42245	1.32	0.09310	N	1	D;D;D	0.89917	0.99;1.0;0.999	P;D;D	0.91635	0.858;0.999;0.919	T	0.05099	-1.0906	10	0.45353	T	0.12	.	6.242	0.20795	0.6939:0.0:0.3061:0.0	.	799;757;799	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	E	757;799;799	ENSP00000386627:K757E;ENSP00000264448:K799E;ENSP00000366944:K799E	ENSP00000264448:K799E	K	+	1	0	ALMS1	73529560	0.081000	0.21417	0.004000	0.12327	0.044000	0.14063	2.227000	0.42972	0.136000	0.18733	0.533000	0.62120	AAG		0.488	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		54	119	0	0	0	0	54	119				
TEKT4	150483	broad.mit.edu	37	2	95539303	95539303	+	Missense_Mutation	SNP	G	G	C	rs377153419		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:95539303G>C	ENST00000295201.4	+	2	674	c.537G>C	c.(535-537)aaG>aaC	p.K179N	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	179					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGCTGCTGAAGAGAACCATCA	0.612																																						uc002stw.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(535-537)AAG>AAC		tektin 4							80.0	70.0	73.0					2																	95539303		2203	4300	6503	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539303G>C	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.537G>C	2.37:g.95539303G>C	ENSP00000295201:p.Lys179Asn					uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	p.K179N	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			2	630	+			179			Potential.			Missense_Mutation	SNP	ENST00000295201.4	37	c.537G>C	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	15.06	2.720227	0.48728	.	.	ENSG00000163060	ENST00000295201	T	0.02837	4.14	1.71	-0.456	0.12190	.	0.107189	0.64402	D	0.000008	T	0.08626	0.0214	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.30707	-0.9969	10	0.30854	T	0.27	-10.2311	3.8807	0.09077	0.4854:0.0:0.5146:0.0	.	179	Q8WW24	TEKT4_HUMAN	N	179	ENSP00000295201:K179N	ENSP00000295201:K179N	K	+	3	2	TEKT4	94903030	0.999000	0.42202	0.994000	0.49952	0.824000	0.46624	0.255000	0.18333	0.048000	0.15891	0.306000	0.20318	AAG		0.612	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		9	36	0	0	0	0	9	36				
CNNM3	26505	broad.mit.edu	37	2	97483071	97483071	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:97483071G>C	ENST00000305510.3	+	1	1085	c.1057G>C	c.(1057-1059)Gag>Cag	p.E353Q	CNNM3_ENST00000377060.3_Missense_Mutation_p.E353Q	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	353	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CCCGGTGTACGAGGAGGAGCG	0.617																																						uc002swy.2		NA																	0				ovary(1)	1						c.(1057-1059)GAG>CAG		cyclin M3 isoform 1							105.0	93.0	97.0					2																	97483071		2203	4300	6503	SO:0001583	missense	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97483071G>C	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1057G>C	2.37:g.97483071G>C	ENSP00000305449:p.Glu353Gln					CNNM3_uc002swz.2_Missense_Mutation_p.E353Q	p.E353Q	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN			1	1081	+			353			CBS 1.		B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	c.1057G>C	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.859466	0.91433	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	T;T	0.78003	-1.14;-1.14	4.44	4.44	0.53790	Cystathionine beta-synthase, core (1);	0.000000	0.85682	D	0.000000	D	0.82893	0.5136	L	0.45422	1.42	0.58432	D	0.999999	D;D	0.69078	0.997;0.97	D;D	0.68765	0.957;0.96	T	0.83170	-0.0094	10	0.42905	T	0.14	-29.422	15.8424	0.78861	0.0:0.0:1.0:0.0	.	353;353	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	Q	353	ENSP00000366260:E353Q;ENSP00000305449:E353Q	ENSP00000305449:E353Q	E	+	1	0	CNNM3	96846798	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.004000	0.88535	2.014000	0.59158	0.561000	0.74099	GAG		0.617	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		21	43	0	0	0	0	21	43				
ST6GAL2	84620	broad.mit.edu	37	2	107460077	107460077	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:107460077T>G	ENST00000409382.3	-	2	967	c.357A>C	c.(355-357)aaA>aaC	p.K119N	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.K119N|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.K119N	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	119					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CACTTTGAGATTTTCTCCCCA	0.532																																						uc002tdq.2		NA																	0				pancreas(6)|ovary(4)|skin(1)	11						c.(355-357)AAA>AAC		ST6 beta-galactosamide							68.0	81.0	76.0					2																	107460077		2190	4295	6485	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460077T>G	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.357A>C	2.37:g.107460077T>G	ENSP00000386942:p.Lys119Asn					ST6GAL2_uc002tdr.2_Missense_Mutation_p.K119N|ST6GAL2_uc002tds.3_Missense_Mutation_p.K119N	p.K119N	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	476	-			119			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.357A>C	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	T	7.279	0.608655	0.14002	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.35973	2.3;2.3;1.28	5.54	-0.959	0.10343	.	0.468207	0.25651	N	0.029209	T	0.20414	0.0491	L	0.27053	0.805	0.21064	N	0.999794	B;B	0.15473	0.01;0.013	B;B	0.14023	0.01;0.01	T	0.13710	-1.0499	10	0.33940	T	0.23	-10.8262	7.6275	0.28220	0.0:0.423:0.1245:0.4525	.	119;119	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	N	119	ENSP00000355273:K119N;ENSP00000386942:K119N;ENSP00000387332:K119N	ENSP00000355273:K119N	K	-	3	2	ST6GAL2	106826509	0.190000	0.23276	0.015000	0.15790	0.279000	0.26890	-0.854000	0.04299	-0.157000	0.11059	0.533000	0.62120	AAA		0.532	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		13	130	0	0	0	0	13	130				
IL36B	27177	broad.mit.edu	37	2	113780314	113780314	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:113780314G>A	ENST00000259213.4	-	6	539	c.432C>T	c.(430-432)ctC>ctT	p.L144L		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	144					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						CCTTCTTCCTGAGATGGTGAT	0.438																																						uc002tiq.1		NA																	0				ovary(1)	1						c.(430-432)CTC>CTT		interleukin 1 family, member 8 isoform 1							205.0	187.0	193.0					2																	113780314		2203	4300	6503	SO:0001819	synonymous_variant	27177				immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113780314G>A	AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"""Interleukins and interleukin receptors"""	15564	protein-coding gene	gene with protein product		605508	"""interleukin 1 family, member 8 (eta)"""	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.432C>T	2.37:g.113780314G>A							p.L144L	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN			6	536	-			144					Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Silent	SNP	ENST00000259213.4	37	c.432C>T	CCDS2109.1																																																																																				0.438	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438		30	53	0	0	0	0	30	53				
PSD4	23550	broad.mit.edu	37	2	113940969	113940969	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:113940969C>T	ENST00000245796.6	+	2	1131	c.936C>T	c.(934-936)atC>atT	p.I312I	PSD4_ENST00000441564.3_Silent_p.I312I	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	312					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGCTGCTATCAGTGGGCATT	0.617																																						uc002tjc.2		NA																	0				ovary(2)	2						c.(934-936)ATC>ATT		pleckstrin and Sec7 domain containing 4							61.0	51.0	55.0					2																	113940969		2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940969C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.936C>T	2.37:g.113940969C>T						PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Silent_p.I311I|PSD4_uc002tjf.2_5'Flank	p.I312I	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			2	1119	+			312					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.936C>T	CCDS33276.1																																																																																				0.617	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		9	30	0	0	0	0	9	30				
SCTR	6344	broad.mit.edu	37	2	120194890	120194890	+	IGR	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:120194890C>G	ENST00000019103.5	-	0	1865				TMEM37_ENST00000409826.1_Silent_p.L161L|TMEM37_ENST00000306406.4_Silent_p.L149L|TMEM37_ENST00000465296.1_3'UTR	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	TGATCCTCCTCAGGAACCAAG	0.547																																						uc002tly.2		NA																	0				breast(1)	1						c.(445-447)CTC>CTG		transmembrane protein 37							191.0	198.0	196.0					2																	120194890		2203	4300	6503	SO:0001628	intergenic_variant	140738					integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr2:120194890C>G		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194890C>G							p.L149L	NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN			2	481	+			149			Helical; (Potential).		Q12961|Q13213|Q53T00	Silent	SNP	ENST00000019103.5	37	c.447C>G	CCDS2127.1																																																																																				0.547	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			80	214	0	0	0	0	80	214				
NEB	4703	broad.mit.edu	37	2	152512709	152512709	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:152512709C>T	ENST00000172853.10	-	49	6600	c.6453G>A	c.(6451-6453)atG>atA	p.M2151I	NEB_ENST00000603639.1_Missense_Mutation_p.M2151I|NEB_ENST00000409198.1_Missense_Mutation_p.M2151I|NEB_ENST00000397345.3_Missense_Mutation_p.M2151I|NEB_ENST00000427231.2_Missense_Mutation_p.M2151I|NEB_ENST00000604864.1_Missense_Mutation_p.M2151I			P20929	NEBU_HUMAN	nebulin	2151					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTCAATGTTCATTGCATCTG	0.468																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(6451-6453)ATG>ATA		nebulin isoform 3							415.0	409.0	411.0					2																	152512709		2106	4221	6327	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152512709C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6453G>A	2.37:g.152512709C>T	ENSP00000172853:p.Met2151Ile						p.M2151I	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	49	6644	-			2151			Nebulin 57.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.6453G>A		.	.	.	.	.	.	.	.	.	.	C	18.45	3.627120	0.66901	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.83	5.83	0.93111	.	0.136278	0.64402	D	0.000004	T	0.40372	0.1114	M	0.72353	2.195	0.80722	D	1	B	0.28933	0.228	B	0.32465	0.146	T	0.14587	-1.0467	10	0.32370	T	0.25	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	2151	P20929	NEBU_HUMAN	I	2151	ENSP00000386259:M2151I;ENSP00000380505:M2151I;ENSP00000416578:M2151I;ENSP00000172853:M2151I	ENSP00000172853:M2151I	M	-	3	0	NEB	152220955	1.000000	0.71417	0.932000	0.37286	0.649000	0.38597	3.347000	0.52200	2.757000	0.94681	0.563000	0.77884	ATG		0.468	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		98	280	0	0	0	0	98	280				
TANK	10010	broad.mit.edu	37	2	162060088	162060088	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:162060088C>T	ENST00000392749.2	+	3	429	c.190C>T	c.(190-192)Ctt>Ttt	p.L64F	TANK_ENST00000403609.1_Missense_Mutation_p.L64F|TANK_ENST00000402568.1_Missense_Mutation_p.L123F|TANK_ENST00000406287.1_Missense_Mutation_p.L122F|TANK_ENST00000457476.1_Missense_Mutation_p.L64F|TANK_ENST00000405852.1_Missense_Mutation_p.L64F|TANK_ENST00000259075.2_Missense_Mutation_p.L64F	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	64					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TCAGTTACTTCTTGTGAATTC	0.343																																						uc002ubr.1		NA																	0				ovary(1)	1						c.(190-192)CTT>TTT		TRAF interacting protein TANK isoform a							123.0	119.0	121.0					2																	162060088		2203	4300	6503	SO:0001583	missense	10010					cytosol	metal ion binding|protein binding	g.chr2:162060088C>T	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.190C>T	2.37:g.162060088C>T	ENSP00000376505:p.Leu64Phe					TANK_uc002ubq.1_Missense_Mutation_p.L64F|TANK_uc002ubs.2_Missense_Mutation_p.L64F	p.L64F	NM_004180	NP_004171	Q92844	TANK_HUMAN			3	348	+			64					D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	c.190C>T	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576546	0.65878	.	.	ENSG00000136560	ENST00000259075;ENST00000432002;ENST00000457476;ENST00000392749;ENST00000440506;ENST00000429217;ENST00000406287;ENST00000402568;ENST00000405852;ENST00000456358;ENST00000403609	T;T;T;T;T	0.35236	1.77;1.77;1.95;1.32;1.95	5.43	5.43	0.79202	.	0.243013	0.33382	N	0.004973	T	0.47154	0.1430	L	0.29908	0.895	0.30050	N	0.811819	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	T	0.47275	-0.9130	10	0.62326	D	0.03	-10.337	12.7353	0.57220	0.0:0.8219:0.1781:0.0	.	64;64	Q92844;Q7Z4J6	TANK_HUMAN;.	F	64;65;64;64;64;65;122;123;64;90;64	ENSP00000259075:L64F;ENSP00000376505:L64F;ENSP00000384492:L122F;ENSP00000385487:L64F;ENSP00000392776:L90F	ENSP00000259075:L64F	L	+	1	0	TANK	161768334	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.112000	0.50368	2.560000	0.86352	0.467000	0.42956	CTT		0.343	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		15	29	0	0	0	0	15	29				
TBR1	10716	broad.mit.edu	37	2	162273175	162273175	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:162273175C>T	ENST00000389554.3	+	1	571	c.254C>T	c.(253-255)cCt>cTt	p.P85L	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	85					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						AAACTCTCTCCTGTCTTGGAC	0.522																																						uc002ubw.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(253-255)CCT>CTT		T-box, brain, 1							101.0	110.0	107.0					2																	162273175		2203	4300	6503	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162273175C>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.254C>T	2.37:g.162273175C>T	ENSP00000374205:p.Pro85Leu					TBR1_uc010foy.2_5'Flank	p.P85L	NM_006593	NP_006584	Q16650	TBR1_HUMAN			1	556	+			85					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.254C>T	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983099	0.34942	.	.	ENSG00000136535	ENST00000389554	D	0.87571	-2.27	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.88145	0.6358	L	0.44542	1.39	0.80722	D	1	P	0.51791	0.948	P	0.51324	0.666	D	0.88669	0.3194	10	0.59425	D	0.04	.	17.8745	0.88821	0.0:1.0:0.0:0.0	.	85	Q16650	TBR1_HUMAN	L	85	ENSP00000374205:P85L	ENSP00000374205:P85L	P	+	2	0	TBR1	161981421	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.703000	0.68340	2.803000	0.96430	0.655000	0.94253	CCT		0.522	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		11	142	0	0	0	0	11	142				
KCNH7	90134	broad.mit.edu	37	2	163693250	163693250	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:163693250C>T	ENST00000332142.5	-	2	203	c.104G>A	c.(103-105)aGa>aAa	p.R35K	KCNH7_ENST00000328032.4_Missense_Mutation_p.R35K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	35					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.R35I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GTTCTGCACTCTGGCATTTGC	0.403																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|skin(2)	5						c.(103-105)AGA>AAA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						63.0	57.0	59.0					2																	163693250		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163693250C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.104G>A	2.37:g.163693250C>T	ENSP00000331727:p.Arg35Lys					KCNH7_uc002uci.2_Missense_Mutation_p.R35K	p.R35K	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			2	316	-			35			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.104G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114743	0.94339	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99571	-5.04;-6.19	6.08	6.08	0.98989	PAS (1);	0.000000	0.85682	D	0.000000	D	0.99036	0.9670	L	0.51914	1.62	0.49130	D	0.999759	B;B	0.26577	0.153;0.033	B;B	0.37239	0.21;0.244	D	0.97432	1.0016	10	0.66056	D	0.02	.	19.6516	0.95815	0.0:1.0:0.0:0.0	.	35;35	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	K	35	ENSP00000331727:R35K;ENSP00000333781:R35K	ENSP00000333781:R35K	R	-	2	0	KCNH7	163401496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	AGA		0.403	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		10	16	0	0	0	0	10	16				
KLHL41	10324	broad.mit.edu	37	2	170366343	170366343	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:170366343C>T	ENST00000284669.1	+	1	132	c.55C>T	c.(55-57)Ctt>Ttt	p.L19F	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	19					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											ATCCACCCTTCTTCAGGATGG	0.468																																						uc002ueu.1		NA																	0					0						c.(55-57)CTT>TTT		kelch repeat and BTB (POZ) domain containing 10							85.0	89.0	88.0					2																	170366343		2203	4300	6503	SO:0001583	missense	10324				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170366343C>T	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.55C>T	2.37:g.170366343C>T	ENSP00000284669:p.Leu19Phe					KBTBD10_uc010zdh.1_Intron	p.L19F	NM_006063	NP_006054	O60662	KBTBA_HUMAN			1	132	+			19					Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.55C>T	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673449	0.67928	.	.	ENSG00000239474	ENST00000284669	T	0.73897	-0.79	5.03	5.03	0.67393	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.84543	0.5495	L	0.56769	1.78	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86152	0.1588	10	0.72032	D	0.01	.	18.3546	0.90353	0.0:1.0:0.0:0.0	.	19	O60662	KBTBA_HUMAN	F	19	ENSP00000284669:L19F	ENSP00000284669:L19F	L	+	1	0	KBTBD10	170074589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.606000	0.61126	2.323000	0.78572	0.585000	0.79938	CTT		0.468	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		34	55	0	0	0	0	34	55				
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:178098810C>T	ENST00000397062.3	-	2	789	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|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)	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NA		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		20	Substitution - Missense(20)		lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)	central_nervous_system(1)	1						c.(235-237)GAG>AAG		nuclear factor erythroid 2-like 2 isoform 1							147.0	146.0	146.0					2																	178098810		1899	4107	6006	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098810C>T		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.235G>A	2.37:g.178098810C>T	ENSP00000380252:p.Glu79Lys	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.E63K|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63K|NFE2L2_uc002uli.3_Missense_Mutation_p.E63K|NFE2L2_uc010fra.2_Missense_Mutation_p.E63K|NFE2L2_uc010frb.2_Missense_Mutation_p.E63K	p.E79K	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	790	-			79					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.235G>A	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936470	0.73442	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.85130	0.996;0.985;0.997;0.996	T	0.68700	-0.5339	10	0.72032	D	0.01	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	K	63;79;63;63;63;63;63	ENSP00000380253:E63K;ENSP00000380252:E79K;ENSP00000411575:E63K;ENSP00000391590:E63K;ENSP00000400073:E63K;ENSP00000412191:E63K;ENSP00000410015:E63K	ENSP00000380252:E79K	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG		0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		6	59	0	0	0	0	6	59				
SATB2	23314	broad.mit.edu	37	2	200137185	200137185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:200137185G>A	ENST00000417098.1	-	11	2767	c.1951C>T	c.(1951-1953)Cag>Tag	p.Q651*	SATB2_ENST00000428695.1_Nonsense_Mutation_p.Q533*|SATB2_ENST00000443023.1_Nonsense_Mutation_p.Q592*|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Q651*|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Q651*	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	651					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.Q651*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGATCCAGCTGAGCCGAAAGA	0.542																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(1951-1953)CAG>TAG		SATB homeobox 2							139.0	123.0	128.0					2																	200137185		2203	4300	6503	SO:0001587	stop_gained	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137185G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1951C>T	2.37:g.200137185G>A	ENSP00000401112:p.Gln651*					SATB2_uc010fsq.1_Nonsense_Mutation_p.Q533*|SATB2_uc002uuz.1_Nonsense_Mutation_p.Q651*|SATB2_uc002uva.1_Nonsense_Mutation_p.Q651*	p.Q651*	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			11	2768	-			651			Homeobox.		A8K5Z8|Q3ZB87|Q4V763	Nonsense_Mutation	SNP	ENST00000417098.1	37	c.1951C>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	40	8.159213	0.98683	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.6754	19.762	0.96323	0.0:0.0:1.0:0.0	.	.	.	.	X	651;592;651;533;651	.	ENSP00000260926:Q651X	Q	-	1	0	SATB2	199845430	1.000000	0.71417	0.971000	0.41717	0.957000	0.61999	9.813000	0.99286	2.741000	0.93983	0.650000	0.86243	CAG		0.542	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		26	57	0	0	0	0	26	57				
CASP8	841	broad.mit.edu	37	2	202151270	202151270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:202151270C>T	ENST00000432109.2	+	10	1582	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.Q524*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*|CASP8_ENST00000392259.2_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	465					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.Q482*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACAGATGCCTCAGCCTACTTT	0.373										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	1	Substitution - Nonsense(1)		breast(1)	upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(1393-1395)CAG>TAG		caspase 8 isoform B precursor							205.0	182.0	190.0					2																	202151270		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202151270C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1393C>T	2.37:g.202151270C>T	ENSP00000412523:p.Gln465*	HNSCC(4;0.00038)				CASP8_uc002uxp.1_Nonsense_Mutation_p.Q482*|CASP8_uc002uxq.1_Nonsense_Mutation_p.Q450*|CASP8_uc002uxt.1_Nonsense_Mutation_p.Q524*|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Nonsense_Mutation_p.Q450*|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Nonsense_Mutation_p.Q381*	p.Q465*	NM_033355	NP_203519	Q14790	CASP8_HUMAN			10	1602	+			465					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.1393C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833399	0.50951	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.86	5.86	0.93980	.	0.478710	0.24200	N	0.040632	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	20.1818	0.98206	0.0:1.0:0.0:0.0	.	.	.	.	X	450;381;465;482;524;450;244	.	ENSP00000264274:Q381X	Q	+	1	0	CASP8	201859515	0.797000	0.28877	0.987000	0.45799	0.013000	0.08279	1.536000	0.36072	2.759000	0.94783	0.650000	0.86243	CAG		0.373	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		10	19	0	0	0	0	10	19				
INO80D	54891	broad.mit.edu	37	2	206869474	206869474	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:206869474G>C	ENST00000403263.1	-	11	3106	c.2702C>G	c.(2701-2703)tCt>tGt	p.S901C		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	725					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S796C(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GCTAAATGGAGAGGGGTCTCC	0.567																																						uc002vaz.3		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(1)	1						c.(2701-2703)TCT>TGT		INO80 complex subunit D							107.0	116.0	113.0					2																	206869474		2049	4200	6249	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206869474G>C		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2702C>G	2.37:g.206869474G>C	ENSP00000384198:p.Ser901Cys						p.S901C	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			11	3107	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.2702C>G	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801338	0.50315	.	.	ENSG00000114933	ENST00000403263	T	0.37411	1.2	5.91	5.91	0.95273	.	.	.	.	.	T	0.47691	0.1459	N	0.19112	0.55	0.51482	D	0.999927	D	0.76494	0.999	D	0.67382	0.951	T	0.48692	-0.9013	9	0.62326	D	0.03	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	901	Q53TQ3-2	.	C	901	ENSP00000384198:S901C	ENSP00000384198:S901C	S	-	2	0	INO80D	206577719	1.000000	0.71417	0.979000	0.43373	0.345000	0.29048	7.280000	0.78610	2.793000	0.96121	0.655000	0.94253	TCT		0.567	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		20	39	0	0	0	0	20	39				
SEPT2	4735	broad.mit.edu	37	2	242282467	242282467	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:242282467G>A	ENST00000391973.2	+	8	1183	c.655G>A	c.(655-657)Gat>Aat	p.D219N	SEPT2_ENST00000401990.1_Missense_Mutation_p.D229N|SEPT2_ENST00000360051.3_Missense_Mutation_p.D219N|SEPT2_ENST00000402092.2_Missense_Mutation_p.D219N|SEPT2_ENST00000391971.2_Missense_Mutation_p.D219N|SEPT2_ENST00000407971.1_Missense_Mutation_p.D179N	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	219	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TGCAGAATCAGATGAAGATGA	0.358																																						uc002wbc.2		NA																	0				central_nervous_system(1)	1						c.(655-657)GAT>AAT		septin 2							108.0	117.0	114.0					2																	242282467		2203	4300	6503	SO:0001583	missense	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242282467G>A	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.655G>A	2.37:g.242282467G>A	ENSP00000375834:p.Asp219Asn					SEPT2_uc002wbd.2_Missense_Mutation_p.D219N|SEPT2_uc002wbf.2_Missense_Mutation_p.D219N|SEPT2_uc002wbg.2_Missense_Mutation_p.D219N|SEPT2_uc002wbh.2_Missense_Mutation_p.D229N|SEPT2_uc010zop.1_Missense_Mutation_p.D254N	p.D219N	NM_001008491	NP_001008491	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	9	1076	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	219					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	c.655G>A	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	G	36	5.834122	0.97003	.	.	ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	T;T;T;T;T;T;T;T	0.78816	1.31;0.69;1.31;1.31;1.31;-1.21;1.31;-1.21	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.89739	0.6802	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.90157	0.4225	10	0.87932	D	0	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	254;179;219	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	N	219;179;219;219;229;179;219;254;74	ENSP00000375834:D219N;ENSP00000397195:D179N;ENSP00000353157:D219N;ENSP00000375832:D219N;ENSP00000385109:D229N;ENSP00000384525:D179N;ENSP00000385172:D219N;ENSP00000408296:D74N	ENSP00000353157:D219N	D	+	1	0	SEPT2	241931140	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	9.273000	0.95719	2.782000	0.95742	0.655000	0.94253	GAT		0.358	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		45	107	0	0	0	0	45	107				
RALGAPA2	57186	broad.mit.edu	37	20	20453517	20453517	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:20453517G>A	ENST00000202677.7	-	37	5458	c.5451C>T	c.(5449-5451)aaC>aaT	p.N1817N		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1817	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CCCTGCTGGCGTTGATGCACG	0.468																																						uc002wrz.2		NA																	0				ovary(1)	1						c.(5449-5451)AAC>AAT		akt substrate AS250							70.0	70.0	70.0					20																	20453517		1988	4195	6183	SO:0001819	synonymous_variant	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20453517G>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.5451C>T	20.37:g.20453517G>A						RALGAPA2_uc010gcx.2_Silent_p.N1521N|RALGAPA2_uc010zsg.1_Silent_p.N1265N|RALGAPA2_uc002wsa.1_Silent_p.N589N	p.N1817N	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			37	5594	-			1817			Rap-GAP.		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Silent	SNP	ENST00000202677.7	37	c.5451C>T	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	9.090	1.001569	0.19121	.	.	ENSG00000188559	ENST00000430436;ENST00000427175	.	.	.	5.77	-3.85	0.04243	.	.	.	.	.	T	0.66147	0.2760	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65565	-0.6137	4	.	.	.	.	16.6153	0.84909	0.9193:0.0:0.0807:0.0	.	.	.	.	M	1634;228	.	.	T	-	2	0	RALGAPA2	20401517	0.005000	0.15991	0.962000	0.40283	0.991000	0.79684	-0.672000	0.05244	-0.904000	0.03876	-0.136000	0.14681	ACG		0.468	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		15	36	0	0	0	0	15	36				
CST1	1469	broad.mit.edu	37	20	23729656	23729656	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:23729656C>G	ENST00000304749.2	-	2	409	c.339G>C	c.(337-339)caG>caC	p.Q113H	CST1_ENST00000398402.1_Missense_Mutation_p.Q113H	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	113					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					AACGTACCTTCTGCAGTTCTG	0.562																																						uc002wtp.2		NA																	0				ovary(1)	1						c.(337-339)CAG>CAC		cystatin SN precursor							225.0	167.0	187.0					20																	23729656		2203	4300	6503	SO:0001583	missense	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23729656C>G	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.339G>C	20.37:g.23729656C>G	ENSP00000305731:p.Gln113His						p.Q113H	NM_001898	NP_001889	P01037	CYTN_HUMAN			2	410	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		113					Q96LE6|Q9UCQ6	Missense_Mutation	SNP	ENST00000304749.2	37	c.339G>C	CCDS13160.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654769	0.29425	.	.	ENSG00000170373	ENST00000304749;ENST00000398402	T;T	0.27256	1.68;1.68	1.58	1.58	0.23477	Proteinase inhibitor I25, cystatin (2);	1.010930	0.07961	U	0.982392	T	0.41789	0.1174	L	0.53671	1.685	0.09310	N	1	D	0.65815	0.995	D	0.72075	0.976	T	0.21930	-1.0231	10	0.42905	T	0.14	.	6.6677	0.23050	0.0:1.0:0.0:0.0	.	113	P01037	CYTN_HUMAN	H	113	ENSP00000305731:Q113H;ENSP00000381439:Q113H	ENSP00000305731:Q113H	Q	-	3	2	CST1	23677656	0.000000	0.05858	0.020000	0.16555	0.199000	0.23934	-0.443000	0.06862	1.198000	0.43158	0.194000	0.17425	CAG		0.562	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		8	165	0	0	0	0	8	165				
ACSS1	84532	broad.mit.edu	37	20	25011402	25011402	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:25011402G>A	ENST00000323482.4	-	3	703	c.624C>T	c.(622-624)atC>atT	p.I208I	ACSS1_ENST00000432802.2_Silent_p.I208I|ACSS1_ENST00000537502.1_Silent_p.I125I|ACSS1_ENST00000542618.1_Silent_p.I87I	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	208					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCATCATTGATCCTCCCAG	0.592																																						uc002wub.2		NA																	0				ovary(1)|skin(1)	2						c.(622-624)ATC>ATT		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						88.0	76.0	80.0					20																	25011402		2203	4300	6503	SO:0001819	synonymous_variant	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:25011402G>A		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.624C>T	20.37:g.25011402G>A						ACSS1_uc002wuc.2_Silent_p.I208I|ACSS1_uc010gdc.2_Silent_p.I208I|ACSS1_uc002wua.2_Silent_p.I125I	p.I208I	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN			3	1502	-			208					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	37	c.624C>T	CCDS13167.1																																																																																				0.592	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		24	43	0	0	0	0	24	43				
TM9SF4	9777	broad.mit.edu	37	20	30729306	30729306	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:30729306T>G	ENST00000398022.2	+	4	471	c.236T>G	c.(235-237)gTg>gGg	p.V79G	TM9SF4_ENST00000217315.5_Missense_Mutation_p.V62G	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	79						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCAGGAGAGGTGCTGAGAGGG	0.547																																						uc002wxj.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(235-237)GTG>GGG		transmembrane 9 superfamily protein member 4							65.0	65.0	65.0					20																	30729306		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30729306T>G	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.236T>G	20.37:g.30729306T>G	ENSP00000381104:p.Val79Gly					TM9SF4_uc010ztr.1_Intron|TM9SF4_uc010zts.1_Intron|TM9SF4_uc002wxk.2_Missense_Mutation_p.V62G|TM9SF4_uc010gdz.2_5'Flank	p.V79G	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		4	471	+			79					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.236T>G	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	.	26.8	4.776936	0.90195	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.57107	0.42;0.42	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.80854	0.4703	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86868	0.2034	10	0.87932	D	0	-17.8441	15.8887	0.79273	0.0:0.0:0.0:1.0	.	79	Q92544	TM9S4_HUMAN	G	79;62	ENSP00000381104:V79G;ENSP00000217315:V62G	ENSP00000217315:V62G	V	+	2	0	TM9SF4	30192967	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.490000	0.81461	2.154000	0.67381	0.460000	0.39030	GTG		0.547	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		9	53	0	0	0	0	9	53				
CNBD2	140894	broad.mit.edu	37	20	34575417	34575417	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:34575417G>C	ENST00000373973.3	+	7	990	c.817G>C	c.(817-819)Gat>Cat	p.D273H	CNBD2_ENST00000538900.1_Missense_Mutation_p.D273H|CNBD2_ENST00000349339.1_Missense_Mutation_p.D273H			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	273																	GATCTCAAAAGATTTTGGAGA	0.493																																						uc002xes.1		NA																	0					0						c.(817-819)GAT>CAT		SubName: Full=C20orf152 protein;							98.0	83.0	88.0					20																	34575417		2203	4300	6503	SO:0001583	missense	140894							g.chr20:34575417G>C	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.817G>C	20.37:g.34575417G>C	ENSP00000363084:p.Asp273His					C20orf152_uc002xer.1_Missense_Mutation_p.D273H|C20orf152_uc010gfp.1_Intron	p.D273H			Q96M20	CT152_HUMAN			7	973	+	Breast(12;0.00631)		273					Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.817G>C		.	.	.	.	.	.	.	.	.	.	G	17.87	3.495565	0.64186	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.42131	0.98;0.98;0.98	5.41	4.39	0.52855	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.074026	0.53938	D	0.000053	T	0.59059	0.2166	M	0.74258	2.255	0.09310	N	0.999999	D;D	0.76494	0.997;0.999	P;D	0.71414	0.907;0.973	T	0.52533	-0.8563	10	0.87932	D	0	-22.2677	8.1854	0.31335	0.1075:0.0:0.8925:0.0	.	273;273	Q96M20;Q96M20-2	CT152_HUMAN;.	H	273	ENSP00000363084:D273H;ENSP00000340954:D273H;ENSP00000442729:D273H	ENSP00000340954:D273H	D	+	1	0	C20orf152	34038831	0.976000	0.34144	0.189000	0.23252	0.389000	0.30415	2.816000	0.48026	2.826000	0.97356	0.655000	0.94253	GAT		0.493	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		10	27	0	0	0	0	10	27				
RALGAPB	57148	broad.mit.edu	37	20	37174953	37174953	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:37174953G>C	ENST00000262879.6	+	19	3066	c.2782G>C	c.(2782-2784)Gag>Cag	p.E928Q	RALGAPB_ENST00000397038.1_Missense_Mutation_p.E706Q|RALGAPB_ENST00000397040.1_Missense_Mutation_p.E928Q|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E924Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	928					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCTTGTGAATGAGACCACTTT	0.438																																						uc002xiw.2		NA																	0				pancreas(1)|skin(1)	2						c.(2782-2784)GAG>CAG		Ral GTPase activating protein, beta subunit							125.0	114.0	117.0					20																	37174953		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37174953G>C	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2782G>C	20.37:g.37174953G>C	ENSP00000262879:p.Glu928Gln					RALGAPB_uc002xix.2_Missense_Mutation_p.E924Q|RALGAPB_uc002xiy.1_Missense_Mutation_p.E928Q|RALGAPB_uc002xiz.2_Missense_Mutation_p.E706Q|RALGAPB_uc002xja.1_Missense_Mutation_p.E655Q	p.E928Q	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			19	3039	+			928					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.2782G>C	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021846	0.93462	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.80292	0.4596	M	0.77486	2.375	0.80722	D	1	D;D;D;D	0.76494	0.999;0.969;0.999;0.999	D;P;D;D	0.83275	0.996;0.654;0.996;0.996	D	0.83429	0.0037	9	0.87932	D	0	.	18.1076	0.89525	0.0:0.0:1.0:0.0	.	756;928;924;928	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	Q	928;924;928;706;928;756	.	ENSP00000262879:E928Q	E	+	1	0	RALGAPB	36608367	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.287000	0.76781	0.313000	0.20887	GAG		0.438	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		26	74	0	0	0	0	26	74				
ZNF335	63925	broad.mit.edu	37	20	44578159	44578159	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:44578159C>T	ENST00000322927.2	-	25	3818	c.3718G>A	c.(3718-3720)Gaa>Aaa	p.E1240K	ZNF335_ENST00000426788.1_Missense_Mutation_p.E1085K	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1240	Gln-rich.				brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACAACATATTCCTGGGGGAGC	0.617																																						uc002xqw.2		NA																	0				skin(3)|ovary(1)	4						c.(3718-3720)GAA>AAA		zinc finger protein 335							52.0	41.0	45.0					20																	44578159		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44578159C>T	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3718G>A	20.37:g.44578159C>T	ENSP00000325326:p.Glu1240Lys					ZNF335_uc002xqv.2_Missense_Mutation_p.E352K|ZNF335_uc010zxk.1_Missense_Mutation_p.E1085K	p.E1240K	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			25	3841	-		Myeloproliferative disorder(115;0.0122)	1240			Gln-rich.		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.3718G>A	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852971	0.91355	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.47869	0.83;0.83	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.55909	0.1950	L	0.27053	0.805	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.51301	-0.8723	10	0.30078	T	0.28	-18.4272	17.5268	0.87802	0.0:1.0:0.0:0.0	.	1085;1240	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	K	1240;1017;1085	ENSP00000325326:E1240K;ENSP00000397098:E1085K	ENSP00000243961:E1017K	E	-	1	0	ZNF335	44011566	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.154000	0.77437	2.630000	0.89119	0.561000	0.74099	GAA		0.617	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		10	26	0	0	0	0	10	26				
ELMO2	63916	broad.mit.edu	37	20	45000282	45000282	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:45000282C>G	ENST00000290246.6	-	18	1823	c.1629G>C	c.(1627-1629)caG>caC	p.Q543H	ELMO2_ENST00000352077.2_Missense_Mutation_p.Q541H|ELMO2_ENST00000372176.1_Missense_Mutation_p.Q455H|ELMO2_ENST00000488853.1_5'Flank|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q360H|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q555H|ELMO2_ENST00000454865.2_Missense_Mutation_p.Q275H|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q543H	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	543					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TCAGGCGCTGCTGCTTGATCA	0.612																																						uc002xrt.1		NA																	0				ovary(1)	1						c.(1627-1629)CAG>CAC		engulfment and cell motility 2							41.0	40.0	40.0					20																	45000282		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45000282C>G	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1629G>C	20.37:g.45000282C>G	ENSP00000290246:p.Gln543His					ELMO2_uc010zxq.1_Missense_Mutation_p.Q275H|ELMO2_uc002xrs.1_Missense_Mutation_p.Q290H|ELMO2_uc002xru.1_Missense_Mutation_p.Q543H|ELMO2_uc010zxr.1_Missense_Mutation_p.Q555H|ELMO2_uc010zxs.1_Missense_Mutation_p.Q360H|ELMO2_uc002xrv.1_Missense_Mutation_p.Q262H	p.Q543H	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN			18	1839	-		Myeloproliferative disorder(115;0.0122)	543					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.1629G>C	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202814	0.38905	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000452857;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077	T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	4.69	2.7	0.31948	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	M	0.74647	2.275	0.80722	D	1	D;P;P;P	0.64830	0.994;0.887;0.872;0.761	P;B;B;B	0.61592	0.891;0.374;0.231;0.179	T	0.66705	-0.5856	10	0.66056	D	0.02	-23.9092	13.6231	0.62149	0.0:0.8546:0.0:0.1454	.	555;275;360;543	B4DRL5;B4DZ20;B7Z1S8;Q96JJ3	.;.;.;ELMO2_HUMAN	H	543;455;110;543;555;360;275;541	ENSP00000290246:Q543H;ENSP00000361249:Q455H;ENSP00000414329:Q110H;ENSP00000379673:Q543H;ENSP00000396519:Q555H;ENSP00000409920:Q360H;ENSP00000415641:Q275H;ENSP00000326172:Q541H	ENSP00000290246:Q543H	Q	-	3	2	ELMO2	44433689	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.986000	0.29590	0.284000	0.22305	-0.797000	0.03246	CAG		0.612	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		12	32	0	0	0	0	12	32				
PPP1R3D	5509	broad.mit.edu	37	20	58514571	58514571	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:58514571G>C	ENST00000370996.3	-	1	781	c.416C>G	c.(415-417)tCg>tGg	p.S139W	FAM217B_ENST00000360816.3_5'Flank|FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	139					dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)	p.S139*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GCACAGGTCCGAGTTGATTGC	0.682																																						uc002ybb.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(415-417)TCG>TGG		protein phosphatase 1, regulatory subunit 3D							20.0	23.0	22.0					20																	58514571		2175	4255	6430	SO:0001583	missense	5509				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	g.chr20:58514571G>C	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.416C>G	20.37:g.58514571G>C	ENSP00000360035:p.Ser139Trp					C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	p.S139W	NM_006242	NP_006233	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		1	782	-	all_lung(29;0.00391)		139					Q6DK02	Missense_Mutation	SNP	ENST00000370996.3	37	c.416C>G	CCDS13483.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063935	0.76187	.	.	ENSG00000132825	ENST00000370996	T	0.57752	0.38	4.97	4.02	0.46733	.	0.227929	0.29273	N	0.012639	T	0.67979	0.2951	M	0.65498	2.005	0.58432	D	0.999999	D	0.76494	0.999	D	0.72982	0.979	T	0.67063	-0.5765	10	0.37606	T	0.19	-14.602	13.3181	0.60419	0.0772:0.0:0.9228:0.0	.	139	O95685	PPR3D_HUMAN	W	139	ENSP00000360035:S139W	ENSP00000360035:S139W	S	-	2	0	PPP1R3D	57947966	1.000000	0.71417	0.952000	0.39060	0.878000	0.50629	6.269000	0.72558	1.089000	0.41292	0.462000	0.41574	TCG		0.682	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242		13	29	0	0	0	0	13	29				
DIDO1	11083	broad.mit.edu	37	20	61527745	61527745	+	Splice_Site	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:61527745C>G	ENST00000266070.4	-	8	2380		c.e8-1		DIDO1_ENST00000395343.1_Splice_Site|DIDO1_ENST00000395340.1_Splice_Site|DIDO1_ENST00000395335.2_Splice_Site	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1						apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCATTGACTCTGAACAGAAT	0.363																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.e8-1		death inducer-obliterator 1 isoform c							70.0	67.0	68.0					20																	61527745		2203	4300	6503	SO:0001630	splice_region_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61527745C>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2055-1G>C	20.37:g.61527745C>G						DIDO1_uc002yds.1_Splice_Site_p.R685_splice|DIDO1_uc002ydt.1_Splice_Site_p.R685_splice|DIDO1_uc002ydu.1_Splice_Site_p.R685_splice	p.R685_splice	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			8	2319	-	Breast(26;5.68e-08)							A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Splice_Site	SNP	ENST00000266070.4	37	c.2055_splice	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791718	0.90453	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DIDO1	60998190	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.708000	0.84633	2.884000	0.98904	0.655000	0.94253	.		0.363	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	Intron	11	33	0	0	0	0	11	33				
DSCAM	1826	broad.mit.edu	37	21	41496216	41496216	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr21:41496216G>A	ENST00000400454.1	-	20	4079	c.3602C>T	c.(3601-3603)tCa>tTa	p.S1201L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1201	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATGGAGGCTGAGGCCGCCGC	0.592																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(3601-3603)TCA>TTA		Down syndrome cell adhesion molecule isoform							82.0	94.0	90.0					21																	41496216		2029	4178	6207	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41496216G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3602C>T	21.37:g.41496216G>A	ENSP00000383303:p.Ser1201Leu					DSCAM_uc002yyr.1_RNA	p.S1201L	NM_001389	NP_001380	O60469	DSCAM_HUMAN			20	4054	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1201			Fibronectin type-III 4.|Extracellular (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.3602C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420592	0.83559	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.59502	0.26;0.26	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.134124	0.51477	D	0.000088	T	0.71022	0.3291	M	0.92738	3.34	0.41254	D	0.986731	P	0.43578	0.811	B	0.42625	0.393	T	0.78445	-0.2201	10	0.42905	T	0.14	.	18.7183	0.91684	0.0:0.0:1.0:0.0	.	1201	O60469	DSCAM_HUMAN	L	1201;953	ENSP00000383303:S1201L;ENSP00000385342:S953L	ENSP00000383303:S1201L	S	-	2	0	DSCAM	40418086	1.000000	0.71417	0.971000	0.41717	0.822000	0.46500	4.404000	0.59735	2.392000	0.81423	0.563000	0.77884	TCA		0.592	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		36	89	0	0	0	0	36	89				
KRTAP10-10	353333	broad.mit.edu	37	21	46057496	46057496	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr21:46057496G>A	ENST00000380095.1	+	1	224	c.162G>A	c.(160-162)caG>caA	p.Q54Q	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	54	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CCTGCTGCCAGACGGCCTGTG	0.657																																						uc002zfq.2		NA																	0					0						c.(160-162)CAG>CAA		keratin associated protein 10-10							56.0	62.0	60.0					21																	46057496		2203	4300	6503	SO:0001819	synonymous_variant	353333					keratin filament		g.chr21:46057496G>A	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.162G>A	21.37:g.46057496G>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.Q54Q	NM_181688	NP_859016	P60014	KR10A_HUMAN			1	224	+			54			3.|15 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000380095.1	37	c.162G>A	CCDS33585.1																																																																																				0.657	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		32	70	0	0	0	0	32	70				
TXNRD2	10587	broad.mit.edu	37	22	19864723	19864723	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:19864723C>T	ENST00000400521.1	-	17	1486	c.1480G>A	c.(1480-1482)Gtg>Atg	p.V494M	TXNRD2_ENST00000400518.1_Missense_Mutation_p.V464M|TXNRD2_ENST00000535882.1_Missense_Mutation_p.V493M|TXNRD2_ENST00000400519.1_Missense_Mutation_p.V493M|TXNRD2_ENST00000542719.1_Missense_Mutation_p.V464M	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	494					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TGGATACCCACGGTCCGCATC	0.657																																						uc011ahc.1		NA																	0				ovary(2)	2						c.(1480-1482)GTG>ATG		thioredoxin reductase 2 precursor							38.0	42.0	41.0					22																	19864723		2073	4211	6284	SO:0001583	missense	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19864723C>T	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1480G>A	22.37:g.19864723C>T	ENSP00000383365:p.Val494Met					TXNRD2_uc002zql.1_Missense_Mutation_p.V248M|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.V493M|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Missense_Mutation_p.V144M	p.V494M	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN			17	1513	-	Colorectal(54;0.0993)		494					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	c.1480G>A	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	c	15.24	2.775796	0.49786	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25	4.32	2.18	0.27775	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.069509	0.56097	D	0.000028	D	0.93327	0.7873	L	0.58925	1.835	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.56612	0.802;0.802;0.802	D	0.91822	0.5468	10	0.87932	D	0	-10.8762	8.2046	0.31446	0.1563:0.7581:0.0:0.0856	.	494;493;471	Q9NNW7;D3YTF9;D3YTF8	TRXR2_HUMAN;.;.	M	464;494;494;471;398;493;493;464	ENSP00000383362:V464M;ENSP00000383365:V494M;ENSP00000383369:V471M;ENSP00000383363:V493M;ENSP00000439314:V493M;ENSP00000439570:V464M	ENSP00000383362:V464M	V	-	1	0	TXNRD2	18244723	0.968000	0.33430	0.632000	0.29296	0.274000	0.26718	2.350000	0.44063	0.576000	0.29452	0.556000	0.70494	GTG		0.657	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		8	24	0	0	0	0	8	24				
LRP5L	91355	broad.mit.edu	37	22	25755871	25755871	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:25755871G>C	ENST00000402785.2	-	1	285	c.189C>G	c.(187-189)ctC>ctG	p.L63L	LRP5L_ENST00000444995.3_Silent_p.L63L|LRP5L_ENST00000402859.2_Silent_p.L63L			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	63					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						AGGTGCTGTTGAGGCACGTCA	0.597																																						uc003abs.2		NA																	0					0						c.(187-189)CTC>CTG		low density lipoprotein receptor-related protein							189.0	148.0	162.0					22																	25755871		2200	4300	6500	SO:0001819	synonymous_variant	91355							g.chr22:25755871G>C	AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.189C>G	22.37:g.25755871G>C						LRP5L_uc011ajz.1_Silent_p.L63L|LRP5L_uc010guw.1_Silent_p.L63L	p.L63L	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN			1	2654	-			63			LDL-receptor class B 2.		B0QYF3|B0QYF4|B2RPI5	Silent	SNP	ENST00000402785.2	37	c.189C>G	CCDS33626.1																																																																																				0.597	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320477.2	NM_182492		18	80	0	0	0	0	18	80				
TRIOBP	11078	broad.mit.edu	37	22	38168710	38168710	+	Missense_Mutation	SNP	C	C	T	rs369681704		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:38168710C>T	ENST00000406386.3	+	23	7294	c.7039C>T	c.(7039-7041)Cgt>Tgt	p.R2347C	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R634C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2347					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGAGCACCTGCGTCTTGCCAT	0.627																																						uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(7039-7041)CGT>TGT		TRIO and F-actin binding protein isoform 6			CYS/ARG,CYS/ARG	1,4355		0,1,2177	112.0	125.0	120.0		7039,1900	4.8	1.0	22		120	0,8570		0,0,4285	no	missense,missense	TRIOBP	NM_001039141.2,NM_007032.5	180,180	0,1,6462	TT,TC,CC		0.0,0.023,0.0077	probably-damaging,probably-damaging	2347/2366,634/653	38168710	1,12925	2178	4285	6463	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38168710C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.7039C>T	22.37:g.38168710C>T	ENSP00000384312:p.Arg2347Cys					TRIOBP_uc003atu.2_Missense_Mutation_p.R2175C|TRIOBP_uc003atw.2_Missense_Mutation_p.R634C|TRIOBP_uc003atx.1_3'UTR|TRIOBP_uc010gxh.2_Missense_Mutation_p.R235C	p.R2347C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			23	7310	+	Melanoma(58;0.0574)		2347			Potential.		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.7039C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	c	25.2	4.617572	0.87359	2.3E-4	0.0	ENSG00000100106	ENST00000406386;ENST00000403663	T	0.25749	1.78	4.8	4.8	0.61643	.	.	.	.	.	T	0.45377	0.1339	L	0.44542	1.39	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.976	T	0.43653	-0.9378	9	0.87932	D	0	.	18.0585	0.89370	0.0:1.0:0.0:0.0	.	2249;634;2347	Q9H2D6-2;F8W6V6;Q9H2D6	.;.;TARA_HUMAN	C	2347;634	ENSP00000384312:R2347C	ENSP00000386026:R634C	R	+	1	0	TRIOBP	36498656	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.409000	0.52657	2.480000	0.83734	0.556000	0.70494	CGT		0.627	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	141	0	0	0	0	7	141				
PARVG	64098	broad.mit.edu	37	22	44583758	44583758	+	Splice_Site	SNP	C	C	T	rs147016590		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:44583758C>T	ENST00000444313.3	+	5	731	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	PARVG_ENST00000415224.1_Splice_Site_p.Q83*|PARVG_ENST00000422871.1_Splice_Site_p.Q83*	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	83	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.Q83*(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CCACCTATTCCGTAAGTGGCT	0.612																																						uc011aqe.1		NA																	2	Substitution - Nonsense(2)		endometrium(2)		0						c.(247-249)CAG>TAG		parvin, gamma		C	stop/GLN,stop/GLN,stop/GLN	0,4406		0,0,2203	139.0	101.0	114.0		247,247,247	4.1	1.0	22	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained-near-splice,stop-gained-near-splice,stop-gained-near-splice	PARVG	NM_001137605.1,NM_001137606.1,NM_022141.5	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	83/332,83/332,83/332	44583758	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44583758C>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.247+1C>T	22.37:g.44583758C>T						PARVG_uc010gzo.2_3'UTR|PARVG_uc010gzp.2_RNA|PARVG_uc003bep.2_Nonsense_Mutation_p.Q83*|PARVG_uc010gzr.1_RNA|PARVG_uc011aqf.1_Nonsense_Mutation_p.Q83*|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	p.Q83*	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN			5	671	+		Ovarian(80;0.024)|all_neural(38;0.0299)	83			CH 1.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Nonsense_Mutation	SNP	ENST00000444313.3	37	c.247C>T	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	C	39	7.811840	0.98504	0.0	1.16E-4	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	.	.	.	4.11	4.11	0.48088	.	0.529141	0.18828	N	0.130045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-0.7848	9.1742	0.37100	0.2169:0.7831:0.0:0.0	.	.	.	.	X	83	.	ENSP00000349378:Q83X	Q	+	1	0	PARVG	42915091	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.171000	0.31896	2.114000	0.64651	0.555000	0.69702	CAG		0.612	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141	Nonsense_Mutation	13	34	0	0	0	0	13	34				
SBF1	6305	broad.mit.edu	37	22	50906317	50906317	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:50906317C>G	ENST00000390679.3	-	3	361	c.177G>C	c.(175-177)gaG>gaC	p.E59D	SBF1_ENST00000380817.3_Missense_Mutation_p.E59D|SBF1_ENST00000348911.6_Missense_Mutation_p.E59D			O95248	MTMR5_HUMAN	SET binding factor 1	59	UDENN.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGATTCCTCTCGGGACACA	0.632																																						uc003blh.2		NA																	0					0						c.(175-177)GAG>GAC		SET binding factor 1							42.0	51.0	48.0					22																	50906317		2110	4220	6330	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50906317C>G	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.177G>C	22.37:g.50906317C>G	ENSP00000375097:p.Glu59Asp					SBF1_uc011arx.1_5'Flank|SBF1_uc003bli.2_Missense_Mutation_p.E59D	p.E59D	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	3	372	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	59			UDENN.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.177G>C		.	.	.	.	.	.	.	.	.	.	C	21.1	4.095330	0.76870	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.44482	0.92;0.92;0.92	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	M	0.64997	1.995	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.10450	0.003;0.005	T	0.44952	-0.9294	10	0.62326	D	0.03	.	17.571	0.87934	0.0:1.0:0.0:0.0	.	59;59	G5E933;O95248-4	.;.	D	59;59;69;69;59	ENSP00000370196:E59D;ENSP00000252027:E59D;ENSP00000375097:E59D	ENSP00000336522:E69D	E	-	3	2	SBF1	49253183	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.925000	0.48884	2.483000	0.83821	0.561000	0.74099	GAG		0.632	SBF1-201	KNOWN	basic	protein_coding	protein_coding				20	34	0	0	0	0	20	34				
CNTN4	152330	broad.mit.edu	37	3	2777987	2777987	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:2777987C>G	ENST00000397461.1	+	4	528	c.144C>G	c.(142-144)ctC>ctG	p.L48L	CNTN4_ENST00000418658.1_Silent_p.L48L|CNTN4_ENST00000427331.1_Silent_p.L48L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	48	Ig-like C2-type 1.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAGTGAAGCTCAATTGTGAAG	0.348																																						uc003bpc.2		NA																	0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(142-144)CTC>CTG		contactin 4 isoform a precursor							111.0	106.0	108.0					3																	2777987		1821	4082	5903	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2777987C>G	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.144C>G	3.37:g.2777987C>G						CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.L48L	p.L48L	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	4	365	+		Ovarian(110;0.156)	48			Ig-like C2-type 1.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.144C>G	CCDS43041.1																																																																																				0.348	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			9	84	0	0	0	0	9	84				
RPUSD3	285367	broad.mit.edu	37	3	9879867	9879867	+	Missense_Mutation	SNP	G	G	A	rs377371328		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:9879867G>A	ENST00000383820.5	-	9	890	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000433535.2_Missense_Mutation_p.R282C|RPUSD3_ENST00000424438.1_3'UTR	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	297					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					AGGTGGAGGCGTCTGAGGAGG	0.622																																						uc011atk.1		NA																	0				central_nervous_system(1)	1						c.(889-891)CGC>TGC		RNA pseudouridylate synthase domain containing 3		A	CYS/ARG,CYS/ARG	0,4406		0,0,2203	56.0	55.0	55.0		889,844	-1.0	0.2	3		55	1,8599		0,1,4299	no	missense,missense	RPUSD3	NM_173659.3,NM_001142547.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	297/352,282/337	9879867	1,13005	2203	4300	6503	SO:0001583	missense	285367				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr3:9879867G>A	BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"""RNA pseudouridylate synthase domain containing"""	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.889C>T	3.37:g.9879867G>A	ENSP00000373331:p.Arg297Cys					ARPC4_uc003btc.1_Intron|RPUSD3_uc011atl.1_Missense_Mutation_p.R282C	p.R297C	NM_173659	NP_775930	Q6P087	RUSD3_HUMAN			9	893	-	Medulloblastoma(99;0.227)		297					B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Missense_Mutation	SNP	ENST00000383820.5	37	c.889C>T	CCDS2586.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.32|12.32	1.903151|1.903151	0.33628|0.33628	0.0|0.0	1.16E-4|1.16E-4	ENSG00000156990|ENSG00000156990	ENST00000433535;ENST00000383820|ENST00000423108	T;T|.	0.23950|.	1.88;1.88|.	5.12|5.12	-1.03|-1.03	0.10102|0.10102	Pseudouridine synthase, catalytic domain (1);|.	0.483083|.	0.23727|.	N|.	0.045166|.	T|T	0.69133|0.69133	0.3077|0.3077	M|M	0.78049|0.78049	2.395|2.395	0.38203|0.38203	D|D	0.940244|0.940244	P;B|.	0.37824|.	0.609;0.12|.	B;B|.	0.21917|.	0.037;0.013|.	T|T	0.67768|0.67768	-0.5585|-0.5585	10|5	0.66056|.	D|.	0.02|.	.|.	10.4496|10.4496	0.44513|0.44513	0.4085:0.0:0.5915:0.0|0.4085:0.0:0.5915:0.0	.|.	282;297|.	Q6P087-2;Q6P087|.	.;RUSD3_HUMAN|.	C|M	282;297|141	ENSP00000398921:R282C;ENSP00000373331:R297C|.	ENSP00000373331:R297C|.	R|T	-|-	1|2	0|0	RPUSD3|RPUSD3	9854867|9854867	0.033000|0.033000	0.19621|0.19621	0.184000|0.184000	0.23157|0.23157	0.787000|0.787000	0.44495|0.44495	0.230000|0.230000	0.17852|0.17852	-0.610000|-0.610000	0.05716|0.05716	-0.927000|-0.927000	0.02713|0.02713	CGC|ACG		0.622	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250238.1	NM_173659		7	40	0	0	0	0	7	40				
MST1R	4486	broad.mit.edu	37	3	49932708	49932708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:49932708C>T	ENST00000296474.3	-	14	3190	c.3163G>A	c.(3163-3165)Gag>Aag	p.E1055K	MST1R_ENST00000344206.4_Missense_Mutation_p.E1006K	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1055					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGATGGACTCTTTCCGCAGC	0.552																																						uc003cxy.3		NA																	0				ovary(5)|lung(1)	6						c.(3163-3165)GAG>AAG		macrophage stimulating 1 receptor precursor							158.0	153.0	154.0					3																	49932708		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49932708C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3163G>A	3.37:g.49932708C>T	ENSP00000296474:p.Glu1055Lys					MST1R_uc011bdc.1_5'UTR	p.E1055K	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	14	3427	-			1055			Cytoplasmic (Potential).		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3163G>A	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	3.356	-0.131525	0.06753	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10005	2.92;2.92	5.84	-1.19	0.09585	Protein kinase-like domain (1);	1.018430	0.07742	N	0.947081	T	0.07143	0.0181	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.45556	-0.9253	10	0.13853	T	0.58	-1.5686	7.5266	0.27658	0.0:0.3217:0.1202:0.5581	.	1055	Q04912	RON_HUMAN	K	1055;1006	ENSP00000296474:E1055K;ENSP00000341325:E1006K	ENSP00000296474:E1055K	E	-	1	0	MST1R	49907712	0.000000	0.05858	0.010000	0.14722	0.058000	0.15608	-0.396000	0.07278	-0.141000	0.11374	-0.291000	0.09656	GAG		0.552	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			59	84	0	0	0	0	59	84				
CD96	10225	broad.mit.edu	37	3	111304196	111304196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:111304196G>A	ENST00000283285.5	+	6	957	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	CD96_ENST00000438817.2_Missense_Mutation_p.E260K|CD96_ENST00000352690.4_Missense_Mutation_p.E260K	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	276	Ig-like C2-type.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TGTGATTGTGGAAAATAACTC	0.413									Opitz Trigonocephaly syndrome																													uc003dxw.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(826-828)GAA>AAA		CD96 antigen isoform 1 precursor							125.0	119.0	121.0					3																	111304196		2203	4300	6503	SO:0001583	missense	10225	Opitz_Trigonocephaly_syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111304196G>A	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.826G>A	3.37:g.111304196G>A	ENSP00000283285:p.Glu276Lys					CD96_uc003dxv.2_Missense_Mutation_p.E260K|CD96_uc003dxx.2_Missense_Mutation_p.E260K|CD96_uc010hpy.1_Missense_Mutation_p.E260K	p.E276K	NM_198196	NP_937839	P40200	TACT_HUMAN			6	996	+			276			Extracellular (Potential).|Ig-like C2-type.		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.826G>A	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130121	0.56721	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.03094	4.05;4.05;4.05	5.02	4.11	0.48088	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.229318	0.30959	N	0.008527	T	0.07413	0.0187	L	0.29908	0.895	0.33648	D	0.608157	D;D;D;D	0.61697	0.99;0.987;0.99;0.979	P;P;P;P	0.60609	0.877;0.805;0.877;0.793	T	0.17992	-1.0351	10	0.38643	T	0.18	-12.3688	10.4931	0.44762	0.0:0.2129:0.7871:0.0	.	260;260;276;260	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	K	260;276;260	ENSP00000342040:E260K;ENSP00000283285:E276K;ENSP00000389801:E260K	ENSP00000283285:E276K	E	+	1	0	CD96	112786886	1.000000	0.71417	0.998000	0.56505	0.250000	0.25880	1.987000	0.40687	2.603000	0.88011	0.655000	0.94253	GAA		0.413	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			6	30	0	0	0	0	6	30				
POLQ	10721	broad.mit.edu	37	3	121158907	121158907	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:121158907G>C	ENST00000264233.5	-	27	7449	c.7321C>G	c.(7321-7323)Cag>Gag	p.Q2441E		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2441					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)		AAAATGGTCTGAACAAATCCG	0.323								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.(7321-7323)CAG>GAG	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							116.0	115.0	115.0					3																	121158907		2201	4300	6501	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.chr3:121158907G>C	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.7321C>G	3.37:g.121158907G>C	ENSP00000264233:p.Gln2441Glu					POLQ_uc003eed.2_Missense_Mutation_p.Q1613E	p.Q2441E	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	27	7450	-			2441					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.7321C>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	4.100	0.016576	0.07959	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.96168	-3.93	4.85	3.95	0.45737	DNA-directed DNA polymerase, family A, palm domain (2);	0.328646	0.33199	N	0.005163	D	0.87366	0.6159	N	0.05259	-0.085	0.24052	N	0.996047	B;B	0.22746	0.026;0.074	B;B	0.28784	0.027;0.094	T	0.69833	-0.5038	10	0.05436	T	0.98	.	14.489	0.67637	0.0:0.1537:0.8463:0.0	.	2441;1613	O75417;O75417-2	DPOLQ_HUMAN;.	E	2064;2441;2577	ENSP00000264233:Q2441E	ENSP00000264233:Q2441E	Q	-	1	0	POLQ	122641597	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.124000	0.57924	1.232000	0.43678	0.563000	0.77884	CAG		0.323	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		16	43	0	0	0	0	16	43				
ALDH1L1	10840	broad.mit.edu	37	3	125872405	125872405	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:125872405G>C	ENST00000393434.2	-	7	1089	c.740C>G	c.(739-741)tCa>tGa	p.S247*	ALDH1L1_ENST00000393431.2_Nonsense_Mutation_p.S247*|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.S257*|ALDH1L1_ENST00000455064.2_Nonsense_Mutation_p.S72*|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.S247*|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.S146*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	247					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GTTCAGCGTTGAGTTGAAAAA	0.567																																						uc003eim.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(739-741)TCA>TGA		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						88.0	89.0	89.0					3																	125872405		2203	4300	6503	SO:0001587	stop_gained	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125872405G>C	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.740C>G	3.37:g.125872405G>C	ENSP00000377083:p.Ser247*					ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Nonsense_Mutation_p.S146*|ALDH1L1_uc003eio.2_5'UTR|ALDH1L1_uc010hsf.1_Nonsense_Mutation_p.S273*|ALDH1L1_uc003eip.1_Nonsense_Mutation_p.S154*|ALDH1L1_uc011bkj.1_Nonsense_Mutation_p.S72*	p.S247*	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	7	930	-			247					B4DG36|E9PBX3|Q68CS1	Nonsense_Mutation	SNP	ENST00000393434.2	37	c.740C>G	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	35	5.495275	0.96355	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000455064	.	.	.	4.78	3.9	0.45041	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.7546	0.46230	0.0951:0.0:0.9049:0.0	.	.	.	.	X	257;247;146;247;247;72	.	ENSP00000273450:S257X	S	-	2	0	ALDH1L1	127355095	1.000000	0.71417	0.792000	0.32020	0.017000	0.09413	6.396000	0.73234	1.001000	0.39076	-0.373000	0.07131	TCA		0.567	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		18	33	0	0	0	0	18	33				
TPRA1	131601	broad.mit.edu	37	3	127294643	127294643	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:127294643G>A	ENST00000355552.3	-	8	995	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	TPRA1_ENST00000465915.1_5'Flank|TPRA1_ENST00000489960.1_Silent_p.L207L|TPRA1_ENST00000296210.7_Intron|TPRA1_ENST00000450633.2_Silent_p.L207L	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	207					aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						ATGACCACCAGAGAGTAGACC	0.642																																						uc003ejl.2		NA																	0					0						c.(619-621)CTG>TTG		G protein-coupled receptor 175 isoform 1							51.0	55.0	54.0					3																	127294643		2203	4300	6503	SO:0001819	synonymous_variant	131601				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	g.chr3:127294643G>A	AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"""GPCR / Unclassified : 7TM orphan receptors"""	30413	protein-coding gene	gene with protein product	"""transmembrane protein 227"""	608336	"""G protein-coupled receptor 175"""	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.619C>T	3.37:g.127294643G>A						TPRA1_uc003ejm.2_Intron|TPRA1_uc003ejo.2_Silent_p.L207L|TPRA1_uc010hsk.2_Intron|TPRA1_uc003ejn.2_Silent_p.L207L	p.L207L	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN			7	910	-			207			Helical; Name=5; (Potential).		A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Silent	SNP	ENST00000355552.3	37	c.619C>T	CCDS3042.1																																																																																				0.642	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1	NM_016372		15	52	0	0	0	0	15	52				
RPN1	6184	broad.mit.edu	37	3	128348837	128348837	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:128348837G>C	ENST00000296255.3	-	5	1041	c.993C>G	c.(991-993)atC>atG	p.I331M	RPN1_ENST00000490166.1_5'Flank|RPN1_ENST00000497289.1_Missense_Mutation_p.I159M	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	331					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TGTAGCCAACGATGTAATGGG	0.433			T	EVI1	AML																																	uc003ekr.1		NA		Dom	yes		3	3q21.3-q25.2	6184	T	ribophorin I			L	EVI1		AML		0				ovary(2)|central_nervous_system(1)	3						c.(991-993)ATC>ATG		ribophorin I precursor							73.0	71.0	72.0					3																	128348837		2203	4300	6503	SO:0001583	missense	6184				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:128348837G>C		CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.993C>G	3.37:g.128348837G>C	ENSP00000296255:p.Ile331Met					RPN1_uc011bkq.1_Missense_Mutation_p.I159M	p.I331M	NM_002950	NP_002941	P04843	RPN1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	5	1069	-			331			Lumenal (Potential).		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	ENST00000296255.3	37	c.993C>G	CCDS3051.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285737	0.40394	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.32	-1.65	0.08291	.	0.046641	0.85682	D	0.000000	T	0.57917	0.2086	M	0.76002	2.32	0.50813	D	0.999897	B	0.24043	0.096	B	0.33750	0.169	T	0.46803	-0.9165	9	0.34782	T	0.22	-9.6194	7.5833	0.27978	0.4107:0.1082:0.4811:0.0	.	331	P04843	RPN1_HUMAN	M	331;159;102;305	.	ENSP00000296255:I331M	I	-	3	3	RPN1	129831527	0.994000	0.37717	0.798000	0.32154	0.901000	0.52897	0.274000	0.18680	-0.235000	0.09767	0.591000	0.81541	ATC		0.433	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950		11	30	0	0	0	0	11	30				
NCK1	4690	broad.mit.edu	37	3	136667114	136667114	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:136667114C>G	ENST00000481752.1	+	4	1117	c.953C>G	c.(952-954)tCa>tGa	p.S318*	IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000469404.1_Nonsense_Mutation_p.S254*|NCK1_ENST00000288986.2_Nonsense_Mutation_p.S318*			P16333	NCK1_HUMAN	NCK adaptor protein 1	318	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						AATGATTTCTCAGTATCACTA	0.313																																						uc003erh.2		NA																	0				pancreas(1)	1						c.(952-954)TCA>TGA		NCK adaptor protein 1							66.0	64.0	64.0					3																	136667114		2203	4298	6501	SO:0001587	stop_gained	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136667114C>G	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.953C>G	3.37:g.136667114C>G	ENSP00000417273:p.Ser318*					NCK1_uc011bme.1_Nonsense_Mutation_p.S254*	p.S318*	NM_006153	NP_006144	P16333	NCK1_HUMAN			4	1060	+			318			SH2.		B7Z751|D3DNE3	Nonsense_Mutation	SNP	ENST00000481752.1	37	c.953C>G	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440372	0.83993	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404;ENST00000467911	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.1723	17.5771	0.87953	0.0:1.0:0.0:0.0	.	.	.	.	X	318;318;254;121	.	ENSP00000288986:S318X	S	+	2	0	NCK1	138149804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.463000	0.80869	2.756000	0.94617	0.655000	0.94253	TCA		0.313	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		3	40	0	0	0	0	3	40				
SLC25A36	55186	broad.mit.edu	37	3	140692589	140692589	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:140692589G>A	ENST00000324194.6	+	6	652	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	RP11-231L11.3_ENST00000513802.1_RNA|SLC25A36_ENST00000453248.2_Missense_Mutation_p.E136K|SLC25A36_ENST00000446041.2_Missense_Mutation_p.E162K			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	162					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGGTGCTTTTGAATGTGTTCG	0.353																																						uc003etr.2		NA																	0					0						c.(484-486)GAA>AAA		solute carrier family 25, member 36 isoform a							67.0	66.0	66.0					3																	140692589		2203	4300	6503	SO:0001583	missense	55186				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr3:140692589G>A	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.484G>A	3.37:g.140692589G>A	ENSP00000320688:p.Glu162Lys					SLC25A36_uc003ets.2_Missense_Mutation_p.E162K|SLC25A36_uc003etq.2_Missense_Mutation_p.E5K|SLC25A36_uc011bmz.1_Missense_Mutation_p.E136K	p.E162K	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN			6	719	+			162			Solcar 2.		A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	ENST00000324194.6	37	c.484G>A	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376725	0.61735	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	T;T;T	0.78364	-1.17;-1.17;-1.17	6.01	6.01	0.97437	Mitochondrial carrier domain (2);	0.087462	0.85682	D	0.000000	T	0.79464	0.4450	L	0.42529	1.33	0.80722	D	1	B;B;P	0.41159	0.025;0.002;0.74	B;B;P	0.47864	0.038;0.012;0.559	T	0.78705	-0.2100	10	0.51188	T	0.08	-3.7101	18.015	0.89236	0.0:0.0:1.0:0.0	.	136;162;162	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	K	162;162;136	ENSP00000401938:E162K;ENSP00000320688:E162K;ENSP00000391521:E136K	ENSP00000320688:E162K	E	+	1	0	SLC25A36	142175279	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.876000	0.87215	2.861000	0.98227	0.650000	0.86243	GAA		0.353	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155		11	23	0	0	0	0	11	23				
RNF13	11342	broad.mit.edu	37	3	149589832	149589832	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:149589832C>G	ENST00000344229.3	+	5	914	c.212C>G	c.(211-213)tCa>tGa	p.S71*	RNF13_ENST00000392894.3_Nonsense_Mutation_p.S71*|RNF13_ENST00000361785.6_5'Flank	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	71	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGATTAACTCAAAACCAGAG	0.328																																						uc003exn.3		NA																	0				ovary(1)	1						c.(211-213)TCA>TGA		ring finger protein 13							76.0	76.0	76.0					3																	149589832		2203	4299	6502	SO:0001587	stop_gained	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149589832C>G	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.212C>G	3.37:g.149589832C>G	ENSP00000341361:p.Ser71*					RNF13_uc003exp.3_Nonsense_Mutation_p.S71*|RNF13_uc010hvh.2_5'UTR	p.S71*	NM_007282	NP_009213	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		5	996	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	71			PA.|Lumenal (Potential).		A6NC87|B3KR12|Q05D66|Q6IBJ9	Nonsense_Mutation	SNP	ENST00000344229.3	37	c.212C>G	CCDS3146.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420063	0.83559	.	.	ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000470151;ENST00000466478;ENST00000543506;ENST00000468648;ENST00000459632;ENST00000466795;ENST00000482539;ENST00000490631	.	.	.	5.09	5.09	0.68999	.	0.065885	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-14.6605	15.5142	0.75809	0.0:1.0:0.0:0.0	.	.	.	.	X	71	.	ENSP00000341361:S71X	S	+	2	0	RNF13	151072522	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.767000	0.68850	2.650000	0.89964	0.655000	0.94253	TCA		0.328	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		6	33	0	0	0	0	6	33				
MED12L	116931	broad.mit.edu	37	3	150840608	150840608	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:150840608G>A	ENST00000474524.1	+	3	281	c.243G>A	c.(241-243)ctG>ctA	p.L81L	MED12L_ENST00000273432.4_Silent_p.L81L|MED12L_ENST00000422248.2_Silent_p.L81L|MED12L_ENST00000309237.4_Silent_p.L81L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	81						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGAGAAACTGAAGCTTAACA	0.378																																						uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(241-243)CTG>CTA		mediator of RNA polymerase II transcription,							71.0	63.0	66.0					3																	150840608		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150840608G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.243G>A	3.37:g.150840608G>A						MED12L_uc011bnz.1_Silent_p.L81L|MED12L_uc003eym.1_Silent_p.L81L|MED12L_uc003eyn.2_Silent_p.L81L|MED12L_uc003eyo.2_Silent_p.L81L	p.L81L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	281	+			81					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.243G>A	CCDS33876.1																																																																																				0.378	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		5	14	0	0	0	0	5	14				
MECOM	2122	broad.mit.edu	37	3	168833803	168833803	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:168833803G>A	ENST00000464456.1	-	7	2493	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	MECOM_ENST00000472280.1_Silent_p.F432F|MECOM_ENST00000468789.1_Silent_p.F431F|MECOM_ENST00000392736.3_Silent_p.F431F|MECOM_ENST00000460814.1_Silent_p.F431F|MECOM_ENST00000494292.1_Silent_p.F619F|MECOM_ENST00000433243.2_Silent_p.F432F|MECOM_ENST00000264674.3_Silent_p.F496F	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTTGTCTTTGAACATTTTAC	0.378																																						uc003ffi.3		NA																	0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(1291-1293)TTC>TTT		MDS1 and EVI1 complex locus isoform b							236.0	221.0	226.0					3																	168833803		2203	4300	6503	SO:0001819	synonymous_variant	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168833803G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1293C>T	3.37:g.168833803G>A						MECOM_uc010hwk.1_Silent_p.F454F|MECOM_uc003ffj.3_Silent_p.F496F|MECOM_uc011bpi.1_Silent_p.F432F|MECOM_uc003ffn.3_Silent_p.F431F|MECOM_uc003ffk.2_Silent_p.F431F|MECOM_uc003ffl.2_Silent_p.F591F|MECOM_uc011bpj.1_Silent_p.F619F|MECOM_uc011bpk.1_Silent_p.F421F|MECOM_uc010hwn.2_Silent_p.F619F	p.F431F	NM_005241	NP_005232	Q03112	EVI1_HUMAN			7	1562	-			431			Nuclear localization signal (Potential).		Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.1293C>T	CCDS54669.1																																																																																				0.378	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		20	45	0	0	0	0	20	45				
TNIK	23043	broad.mit.edu	37	3	170819256	170819256	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:170819256C>G	ENST00000436636.2	-	22	2917	c.2573G>C	c.(2572-2574)aGc>aCc	p.S858T	TNIK_ENST00000470834.1_Missense_Mutation_p.S821T|TNIK_ENST00000475336.1_Missense_Mutation_p.S766T|TNIK_ENST00000538048.1_Missense_Mutation_p.S810T|TNIK_ENST00000460047.1_Missense_Mutation_p.S795T|TNIK_ENST00000284483.8_Missense_Mutation_p.S850T|TNIK_ENST00000357327.5_Missense_Mutation_p.S829T|TNIK_ENST00000341852.6_Missense_Mutation_p.S774T|TNIK_ENST00000488470.1_Missense_Mutation_p.S803T|TNIK_ENST00000369326.5_Missense_Mutation_p.S836T	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	858	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGGTATGTCGCTGACAGCCAC	0.453																																						uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(2572-2574)AGC>ACC		TRAF2 and NCK interacting kinase isoform 1							295.0	295.0	295.0					3																	170819256		2080	4225	6305	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170819256C>G	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2573G>C	3.37:g.170819256C>G	ENSP00000399511:p.Ser858Thr					TNIK_uc003fhi.2_Missense_Mutation_p.S803T|TNIK_uc003fhj.2_Missense_Mutation_p.S829T|TNIK_uc003fhk.2_Missense_Mutation_p.S850T|TNIK_uc003fhl.2_Missense_Mutation_p.S774T|TNIK_uc003fhm.2_Missense_Mutation_p.S795T|TNIK_uc003fhn.2_Missense_Mutation_p.S821T|TNIK_uc003fho.2_Missense_Mutation_p.S766T|TNIK_uc003fhg.2_Missense_Mutation_p.S36T	p.S858T	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		22	2918	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		858			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.2573G>C	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647395	0.29246	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.82356	0.5019	L	0.55481	1.735	0.80722	D	1	P;B;P;P;P;B;P;B	0.52577	0.954;0.003;0.954;0.954;0.723;0.003;0.954;0.077	D;B;D;D;P;B;D;B	0.66351	0.943;0.009;0.943;0.943;0.503;0.009;0.943;0.032	T	0.74266	-0.3721	10	0.09843	T	0.71	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	766;821;795;774;850;829;803;858	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	T	858;836;810;774;850;766;829;795;803;821	ENSP00000399511:S858T;ENSP00000358332:S836T;ENSP00000443278:S810T;ENSP00000345352:S774T;ENSP00000284483:S850T;ENSP00000418156:S766T;ENSP00000349880:S829T;ENSP00000418916:S795T;ENSP00000418378:S803T;ENSP00000419990:S821T	ENSP00000284483:S850T	S	-	2	0	TNIK	172301950	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.291000	0.78721	2.857000	0.98124	0.650000	0.86243	AGC		0.453	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		109	245	0	0	0	0	109	245				
FXR1	8087	broad.mit.edu	37	3	180685989	180685989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:180685989C>T	ENST00000357559.4	+	14	1733	c.1349C>T	c.(1348-1350)tCa>tTa	p.S450L	FXR1_ENST00000445140.2_Missense_Mutation_p.S450L|FXR1_ENST00000468861.1_Missense_Mutation_p.S365L|FXR1_ENST00000491062.1_Missense_Mutation_p.S401L|FXR1_ENST00000305586.7_Missense_Mutation_p.S365L|FXR1_ENST00000480918.1_Missense_Mutation_p.S437L	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	450	RNA-binding RGG-box.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S450L(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGAAGTGTTTCAGGGGGTCGA	0.512																																						uc003fkq.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1348-1350)TCA>TTA		fragile X mental retardation-related protein 1							116.0	99.0	105.0					3																	180685989		2203	4300	6503	SO:0001583	missense	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180685989C>T	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1349C>T	3.37:g.180685989C>T	ENSP00000350170:p.Ser450Leu					FXR1_uc003fkp.2_Missense_Mutation_p.S365L|FXR1_uc003fkr.2_Missense_Mutation_p.S450L|FXR1_uc011bqj.1_Missense_Mutation_p.S364L|FXR1_uc003fks.2_Missense_Mutation_p.S393L|FXR1_uc011bqk.1_Missense_Mutation_p.S401L|FXR1_uc011bql.1_Missense_Mutation_p.S437L	p.S450L	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		14	1371	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		450			RNA-binding RGG-box.		A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.1349C>T	CCDS3238.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.455719|4.455719	0.84209|0.84209	.|.	.|.	ENSG00000114416|ENSG00000114416	ENST00000482125|ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	.|T;T;T;T;T;T	.|0.37584	.|1.87;1.69;1.2;1.19;1.2;1.68	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.291219	.|0.34460	.|N	.|0.003941	.|T	.|0.37210	.|0.0995	L|L	0.38175|0.38175	1.15|1.15	0.41741|0.41741	D|D	0.989615|0.989615	.|B;P;P;P;P;P	.|0.43826	.|0.27;0.584;0.714;0.571;0.818;0.611	.|B;B;B;B;B;B	.|0.43123	.|0.096;0.338;0.338;0.409;0.228;0.187	.|T	.|0.11966	.|-1.0566	.|10	.|0.48119	.|T	.|0.1	-12.3401|-12.3401	19.7945|19.7945	0.96474|0.96474	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|437;401;365;394;450;450	.|B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.|.;.;.;.;.;FXR1_HUMAN	X|L	51|450;365;401;365;450;437	.|ENSP00000350170:S450L;ENSP00000307633:S365L;ENSP00000420643:S401L;ENSP00000420515:S365L;ENSP00000388828:S450L;ENSP00000418097:S437L	.|ENSP00000307633:S365L	Q|S	+|+	1|2	0|0	FXR1|FXR1	182168683|182168683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.507000|4.507000	0.60434|0.60434	2.746000|2.746000	0.94184|0.94184	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.512	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			18	38	0	0	0	0	18	38				
EVC2	132884	broad.mit.edu	37	4	5586467	5586467	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:5586467C>G	ENST00000344408.5	-	17	2993	c.2940G>C	c.(2938-2940)gaG>gaC	p.E980D	EVC2_ENST00000310917.2_Missense_Mutation_p.E900D|EVC2_ENST00000344938.1_Missense_Mutation_p.E980D	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	980					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCGACAGAGTCTCGGTCACCC	0.602																																						uc003gij.2		NA																	0				large_intestine(3)|ovary(2)	5						c.(2938-2940)GAG>GAC		limbin							72.0	72.0	72.0					4																	5586467		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5586467C>G	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2940G>C	4.37:g.5586467C>G	ENSP00000342144:p.Glu980Asp					EVC2_uc011bwb.1_Missense_Mutation_p.E420D|EVC2_uc003gik.2_Missense_Mutation_p.E900D	p.E980D	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			17	2994	-			980					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.2940G>C	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399651	0.25291	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74947	-0.89;-0.88;-0.88	4.98	1.03	0.20045	.	0.174636	0.38605	N	0.001632	T	0.49167	0.1541	N	0.19112	0.55	0.09310	N	1	P	0.38922	0.651	B	0.29598	0.104	T	0.47586	-0.9106	10	0.72032	D	0.01	-6.3522	4.7264	0.12943	0.3036:0.525:0.0:0.1715	.	980	Q86UK5	LBN_HUMAN	D	980;900;980	ENSP00000339954:E980D;ENSP00000311683:E900D;ENSP00000342144:E980D	ENSP00000311683:E900D	E	-	3	2	EVC2	5637368	0.026000	0.19158	0.004000	0.12327	0.211000	0.24417	-0.064000	0.11636	0.180000	0.19960	0.543000	0.68304	GAG		0.602	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		22	34	0	0	0	0	22	34				
N4BP2	55728	broad.mit.edu	37	4	40122465	40122465	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:40122465A>G	ENST00000261435.6	+	9	3150	c.2734A>G	c.(2734-2736)Att>Gtt	p.I912V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	912					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CAACCTAGAAATTGGAACAAA	0.413																																						uc003guy.3		NA																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(2734-2736)ATT>GTT		Nedd4 binding protein 2							50.0	48.0	49.0					4																	40122465		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40122465A>G	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2734A>G	4.37:g.40122465A>G	ENSP00000261435:p.Ile912Val					N4BP2_uc010ifq.2_Missense_Mutation_p.I832V|N4BP2_uc010ifr.2_Missense_Mutation_p.I832V	p.I912V	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			9	3072	+			912					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.2734A>G	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.640|2.640	-0.284381|-0.284381	0.05605|0.05605	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.16457|.	2.34|.	5.48|5.48	2.4|2.4	0.29515|0.29515	.|.	0.687456|.	0.14442|.	N|.	0.319336|.	T|T	0.11707|0.11707	0.0285|0.0285	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.12013|.	0.005;0.003|.	B;B|.	0.09377|.	0.004;0.002|.	T|T	0.24225|0.24225	-1.0166|-1.0166	10|5	0.15499|.	T|.	0.54|.	-3.4825|-3.4825	0.9818|0.9818	0.01437|0.01437	0.3916:0.1186:0.1299:0.3599|0.3916:0.1186:0.1299:0.3599	.|.	912;912|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	V|S	912;832|558	ENSP00000261435:I912V|.	ENSP00000261435:I912V|.	I|N	+|+	1|2	0|0	N4BP2|N4BP2	39798860|39798860	0.737000|0.737000	0.28175|0.28175	0.984000|0.984000	0.44739|0.44739	0.376000|0.376000	0.30014|0.30014	0.365000|0.365000	0.20348|0.20348	0.237000|0.237000	0.21200|0.21200	-0.331000|-0.331000	0.08364|0.08364	ATT|AAT		0.413	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		16	43	0	0	0	0	16	43				
DCAF4L1	285429	broad.mit.edu	37	4	41984001	41984001	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:41984001G>C	ENST00000333141.5	+	1	289	c.192G>C	c.(190-192)ttG>ttC	p.L64F		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	64										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TTCGGAGCTTGGATCCCTCCT	0.532																																						uc003gwk.2		NA																	0				skin(1)	1						c.(190-192)TTG>TTC		WD repeat domain 21B							105.0	88.0	94.0					4																	41984001		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984001G>C	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.192G>C	4.37:g.41984001G>C	ENSP00000327796:p.Leu64Phe						p.L64F	NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN			1	289	+			64					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.192G>C	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	G	0.047	-1.264135	0.01433	.	.	ENSG00000182308	ENST00000333141	T	0.38401	1.14	0.688	0.688	0.18027	WD40 repeat-like-containing domain (1);	0.215687	0.49305	D	0.000156	T	0.13970	0.0338	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28650	-1.0037	9	0.10111	T	0.7	.	.	.	.	.	64	Q3SXM0	DC4L1_HUMAN	F	64	ENSP00000327796:L64F	ENSP00000327796:L64F	L	+	3	2	DCAF4L1	41678758	0.628000	0.27138	0.161000	0.22692	0.052000	0.14988	-1.012000	0.03649	0.635000	0.30488	0.313000	0.20887	TTG		0.532	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		3	62	0	0	0	0	3	62				
ATP8A1	10396	broad.mit.edu	37	4	42571206	42571206	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:42571206C>G	ENST00000381668.5	-	15	1543	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	ATP8A1_ENST00000264449.10_Intron	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	438					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCATAATCCTCAGGTTCAGGG	0.408																																						uc003gwr.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1312-1314)GAG>CAG		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						79.0	80.0	79.0					4																	42571206		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42571206C>G	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1312G>C	4.37:g.42571206C>G	ENSP00000371084:p.Glu438Gln					ATP8A1_uc003gws.2_Intron|ATP8A1_uc011byz.1_Intron	p.E438Q	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			15	1544	-			438			Cytoplasmic (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.1312G>C	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727072	0.69074	.	.	ENSG00000124406	ENST00000381668	T	0.67698	-0.28	5.64	5.64	0.86602	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	L	0.45137	1.4	0.80722	D	1	P	0.38745	0.645	P	0.46885	0.53	T	0.63225	-0.6685	10	0.25751	T	0.34	.	19.706	0.96072	0.0:1.0:0.0:0.0	.	438	Q9Y2Q0	AT8A1_HUMAN	Q	438	ENSP00000371084:E438Q	ENSP00000371084:E438Q	E	-	1	0	ATP8A1	42265963	1.000000	0.71417	0.994000	0.49952	0.677000	0.39632	6.116000	0.71571	2.673000	0.90976	0.591000	0.81541	GAG		0.408	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		14	41	0	0	0	0	14	41				
DCK	1633	broad.mit.edu	37	4	71859630	71859630	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:71859630C>G	ENST00000286648.5	+	1	475	c.78C>G	c.(76-78)atC>atG	p.I26M	DCK_ENST00000504730.1_Missense_Mutation_p.I26M|MOB1B_ENST00000511449.1_Intron|DCK_ENST00000504952.1_Missense_Mutation_p.I26M	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	26					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	AAATCTCCATCGAAGGGAACA	0.602																																						uc003hfx.2		NA																	0				ovary(1)	1						c.(76-78)ATC>ATG		deoxycytidine kinase	Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)						43.0	40.0	41.0					4																	71859630		2203	4300	6503	SO:0001583	missense	1633				purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity	g.chr4:71859630C>G	M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.78C>G	4.37:g.71859630C>G	ENSP00000286648:p.Ile26Met					DCK_uc011cbb.1_Translation_Start_Site	p.I26M	NM_000788	NP_000779	P27707	DCK_HUMAN	Lung(101;0.235)		1	366	+			26					B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	ENST00000286648.5	37	c.78C>G	CCDS3548.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329317	0.41197	.	.	ENSG00000156136	ENST00000286648;ENST00000504730;ENST00000504952	D;D;D	0.96554	-4.05;-4.05;-4.05	4.98	3.2	0.36748	.	0.266105	0.41500	D	0.000875	D	0.97520	0.9188	H	0.95043	3.615	0.52501	D	0.999956	P	0.45569	0.861	P	0.54431	0.752	D	0.95653	0.8708	10	0.87932	D	0	.	2.1641	0.03833	0.161:0.5104:0.1561:0.1725	.	26	P27707	DCK_HUMAN	M	26	ENSP00000286648:I26M;ENSP00000425578:I26M;ENSP00000421508:I26M	ENSP00000286648:I26M	I	+	3	3	DCK	72078494	0.828000	0.29307	1.000000	0.80357	0.021000	0.10359	-0.304000	0.08199	0.579000	0.29504	0.491000	0.48974	ATC		0.602	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2			7	15	0	0	0	0	7	15				
SLC4A4	8671	broad.mit.edu	37	4	72423435	72423435	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:72423435G>T	ENST00000264485.5	+	22	2887	c.2770G>T	c.(2770-2772)Gat>Tat	p.D924Y	SLC4A4_ENST00000340595.3_Missense_Mutation_p.D880Y|SLC4A4_ENST00000351898.6_Missense_Mutation_p.D840Y|SLC4A4_ENST00000425175.1_Missense_Mutation_p.D924Y	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	924					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CCAGTTCATGGATCGTCTGAA	0.443																																						uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(2770-2772)GAT>TAT		solute carrier family 4, sodium bicarbonate							118.0	101.0	107.0					4																	72423435		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72423435G>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2770G>T	4.37:g.72423435G>T	ENSP00000264485:p.Asp924Tyr					SLC4A4_uc010iic.2_Missense_Mutation_p.D924Y|SLC4A4_uc010iib.2_Missense_Mutation_p.D840Y|SLC4A4_uc003hfz.2_Missense_Mutation_p.D924Y|SLC4A4_uc003hgc.3_Missense_Mutation_p.D880Y|SLC4A4_uc010iid.2_Missense_Mutation_p.D128Y	p.D924Y	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		22	2887	+			924			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.2770G>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944510	0.92593	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.80393	-1.37;-1.37;-0.89;-1.37	5.95	5.95	0.96441	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92221	0.7533	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;P;D;D	0.85130	0.997;0.879;0.994;0.997	D	0.92761	0.6224	10	0.87932	D	0	.	20.3789	0.98926	0.0:0.0:1.0:0.0	.	924;840;880;924	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	Y	924;924;840;880	ENSP00000264485:D924Y;ENSP00000393557:D924Y;ENSP00000307349:D840Y;ENSP00000344272:D880Y	ENSP00000264485:D924Y	D	+	1	0	SLC4A4	72642299	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.869000	0.99810	2.826000	0.97356	0.563000	0.77884	GAT		0.443	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		5	49	1	0	3.6e-05	4.83e-05	5	49				
FRAS1	80144	broad.mit.edu	37	4	79387417	79387417	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:79387417G>A	ENST00000264895.6	+	50	7525	c.7085G>A	c.(7084-7086)cGa>cAa	p.R2362Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2362					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACCATCGAGCGAACCAGCAAT	0.557																																						uc003hlb.2		NA																	0				large_intestine(5)	5						c.(7084-7086)CGA>CAA		Fraser syndrome 1							99.0	99.0	99.0					4																	79387417		2173	4277	6450	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79387417G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7085G>A	4.37:g.79387417G>A	ENSP00000264895:p.Arg2362Gln						p.R2362Q	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			50	7525	+			2361			CSPG 11.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.7085G>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	9.031	0.987353	0.18889	.	.	ENSG00000138759	ENST00000264895	T	0.55234	0.53	5.53	1.95	0.26073	.	0.259586	0.39083	N	0.001477	T	0.45915	0.1366	M	0.80183	2.485	0.58432	D	0.999999	P	0.42993	0.797	B	0.36186	0.219	T	0.32455	-0.9906	10	0.27785	T	0.31	.	6.3832	0.21546	0.3226:0.0:0.5654:0.112	.	2362	E9PHH6	.	Q	2362	ENSP00000264895:R2362Q	ENSP00000264895:R2362Q	R	+	2	0	FRAS1	79606441	0.996000	0.38824	0.116000	0.21606	0.061000	0.15899	2.232000	0.43018	0.123000	0.18342	-0.224000	0.12420	CGA		0.557	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				19	63	0	0	0	0	19	63				
BMP2K	55589	broad.mit.edu	37	4	79780824	79780824	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:79780824C>G	ENST00000335016.5	+	8	1136	c.970C>G	c.(970-972)Cca>Gca	p.P324A	BMP2K_ENST00000502871.1_Missense_Mutation_p.P324A	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	324					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AAAGGATTGTCCAGTCTCCAA	0.303																																						uc003hlk.2		NA																	0				lung(1)	1						c.(970-972)CCA>GCA		BMP-2 inducible kinase isoform a							83.0	84.0	84.0					4																	79780824		2203	4299	6502	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79780824C>G	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.970C>G	4.37:g.79780824C>G	ENSP00000334836:p.Pro324Ala					BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Missense_Mutation_p.P324A	p.P324A	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN			8	1136	+			324					O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.970C>G	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.442188|4.442188	0.83993|0.83993	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889|ENST00000502613	T;T|.	0.76839|.	-1.05;-0.93|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Protein kinase-like domain (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.75191|0.75191	0.3816|0.3816	M|M	0.67700|0.67700	2.07|2.07	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.995|.	D;P|.	0.64410|.	0.925;0.893|.	T|T	0.73212|0.73212	-0.4054|-0.4054	10|5	0.87932|.	D|.	0|.	-12.6127|-12.6127	19.1532|19.1532	0.93499|0.93499	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	324;324|.	Q9NSY1;Q4W5H2|.	BMP2K_HUMAN;.|.	A|C	324|16	ENSP00000421768:P324A;ENSP00000334836:P324A|.	ENSP00000264889:P324A|.	P|S	+|+	1|2	0|0	BMP2K|BMP2K	79999848|79999848	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.984000|0.984000	0.73092|0.73092	3.276000|3.276000	0.51646|0.51646	2.611000|2.611000	0.88343|0.88343	0.591000|0.591000	0.81541|0.81541	CCA|TCC		0.303	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		10	34	0	0	0	0	10	34				
HERC5	51191	broad.mit.edu	37	4	89426907	89426907	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:89426907G>A	ENST00000264350.3	+	23	3106	c.2953G>A	c.(2953-2955)Gaa>Aaa	p.E985K	HERC5_ENST00000508159.1_Missense_Mutation_p.E623K	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	985	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AAGTTGGAATGAAAGAGACCC	0.338																																					Esophageal Squamous(39;887 1012 34045 50514)	uc003hrt.2		NA																	0				ovary(4)|lung(3)|skin(2)	9						c.(2953-2955)GAA>AAA		hect domain and RLD 5							48.0	47.0	47.0					4																	89426907		2203	4300	6503	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89426907G>A	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2953G>A	4.37:g.89426907G>A	ENSP00000264350:p.Glu985Lys					HERC5_uc011cdm.1_Missense_Mutation_p.E623K	p.E985K	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	23	3106	+		Hepatocellular(203;0.114)	985			HECT.		B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.2953G>A	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.921184	0.52653	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.58797	0.31;0.31	4.18	4.18	0.49190	HECT (4);	0.183813	0.26442	N	0.024357	T	0.64951	0.2645	L	0.55103	1.725	0.31748	N	0.634944	P	0.46952	0.887	P	0.53722	0.733	T	0.73244	-0.4044	10	0.87932	D	0	.	14.0481	0.64716	0.0:0.0:1.0:0.0	.	985	Q9UII4	HERC5_HUMAN	K	985;623	ENSP00000264350:E985K;ENSP00000424129:E623K	ENSP00000264350:E985K	E	+	1	0	HERC5	89645930	1.000000	0.71417	0.323000	0.25347	0.099000	0.18886	6.361000	0.73070	2.158000	0.67659	0.591000	0.81541	GAA		0.338	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		6	19	0	0	0	0	6	19				
COL25A1	84570	broad.mit.edu	37	4	110222950	110222950	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:110222950G>A	ENST00000399132.1	-	2	756	c.226C>T	c.(226-228)Cat>Tat	p.H76Y	COL25A1_ENST00000399126.1_Missense_Mutation_p.H76Y|COL25A1_ENST00000399127.1_Missense_Mutation_p.H76Y|AC004051.2_ENST00000500526.1_lincRNA	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGCAGCAGATGAATGGAAGGG	0.572																																						uc003hze.1		NA																	0				ovary(2)	2						c.(226-228)CAT>TAT		collagen, type XXV, alpha 1 isoform 1							123.0	129.0	127.0					4																	110222950		2001	4158	6159	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:110222950G>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.226C>T	4.37:g.110222950G>A	ENSP00000382083:p.His76Tyr					COL25A1_uc003hzg.2_Missense_Mutation_p.H76Y|COL25A1_uc003hzh.1_Missense_Mutation_p.H76Y	p.H76Y	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	2	757	-		Hepatocellular(203;0.217)	76			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000399132.1	37	c.226C>T	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756609	0.31137	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;T;D	0.90732	-2.52;0.88;-2.72	5.62	2.92	0.33932	.	0.955086	0.08658	N	0.912856	D	0.82811	0.5118	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.66646	-0.5871	9	.	.	.	3.283	6.3619	0.21433	0.2248:0.135:0.6402:0.0	.	76;76;76	A8MWQ5;Q9BXS0-2;Q9BXS0	.;.;COPA1_HUMAN	Y	76	ENSP00000382083:H76Y;ENSP00000382078:H76Y;ENSP00000382077:H76Y	.	H	-	1	0	COL25A1	110442399	0.707000	0.27866	0.001000	0.08648	0.989000	0.77384	3.705000	0.54823	0.390000	0.25115	0.561000	0.74099	CAT		0.572	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		44	96	0	0	0	0	44	96				
GRIA2	2891	broad.mit.edu	37	4	158233953	158233953	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:158233953G>C	ENST00000264426.9	+	4	871	c.592G>C	c.(592-594)Gat>Cat	p.D198H	GRIA2_ENST00000393815.2_Missense_Mutation_p.D151H|GRIA2_ENST00000449365.1_Missense_Mutation_p.D151H|GRIA2_ENST00000296526.7_Missense_Mutation_p.D198H|GRIA2_ENST00000507898.1_Missense_Mutation_p.D151H	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	198					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACTTTTTCAAGATCTGGAGTT	0.388																																						uc003ipm.3		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(592-594)GAT>CAT		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						121.0	123.0	122.0					4																	158233953		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158233953G>C		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.592G>C	4.37:g.158233953G>C	ENSP00000264426:p.Asp198His					GRIA2_uc011cit.1_Missense_Mutation_p.D151H|GRIA2_uc003ipl.3_Missense_Mutation_p.D198H|GRIA2_uc003ipk.3_Missense_Mutation_p.D151H|GRIA2_uc010iqh.1_RNA	p.D198H	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	4	1051	+	all_hematologic(180;0.24)	Renal(120;0.0458)	198			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.592G>C	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848679	0.91277	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365;ENST00000503437	D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.56	5.56	0.83823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91740	0.7388	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92118	0.5701	10	0.87932	D	0	.	19.5267	0.95209	0.0:0.0:1.0:0.0	.	198;198;151	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	H	151;151;198;198;151;71	ENSP00000426845:D151H;ENSP00000377403:D151H;ENSP00000296526:D198H;ENSP00000264426:D198H;ENSP00000389837:D151H;ENSP00000426784:D71H	ENSP00000264426:D198H	D	+	1	0	GRIA2	158453403	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.461000	0.97646	2.621000	0.88768	0.563000	0.77884	GAT		0.388	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			22	67	0	0	0	0	22	67				
GRIA2	2891	broad.mit.edu	37	4	158284166	158284166	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:158284166C>T	ENST00000264426.9	+	15	2901	c.2622C>T	c.(2620-2622)aaC>aaT	p.N874N	GRIA2_ENST00000393815.2_Silent_p.N827N|GRIA2_ENST00000449365.1_Silent_p.N827N|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000296526.7_Silent_p.N874N|GRIA2_ENST00000507898.1_Silent_p.N827N	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	874					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.N874N(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AAGGTTACAACGTATATGGCA	0.408																																						uc003ipm.3		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(2620-2622)AAC>AAT		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						133.0	126.0	128.0					4																	158284166		2203	4300	6503	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158284166C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2622C>T	4.37:g.158284166C>T						GRIA2_uc011cit.1_Silent_p.N827N|GRIA2_uc003ipl.3_Silent_p.N874N|GRIA2_uc003ipk.3_Silent_p.N827N|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	p.N874N	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	15	3081	+	all_hematologic(180;0.24)	Renal(120;0.0458)	874			Cytoplasmic (Potential).		A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.2622C>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	C	2.604	-0.292301	0.05568	.	.	ENSG00000120251	ENST00000510854	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	T	0.77391	0.4123	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73773	-0.3877	4	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	.	.	.	C	205	.	.	R	+	1	0	GRIA2	158503616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.026000	0.70873	2.894000	0.99253	0.591000	0.81541	CGT		0.408	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			7	92	0	0	0	0	7	92				
KLHL2	11275	broad.mit.edu	37	4	166184408	166184408	+	Silent	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:166184408A>G	ENST00000226725.6	+	5	700	c.441A>G	c.(439-441)gaA>gaG	p.E147E	KLHL2_ENST00000421009.2_Silent_p.E50E|KLHL2_ENST00000506761.1_5'UTR|KLHL2_ENST00000538127.1_Silent_p.E59E|KLHL2_ENST00000514860.1_Silent_p.E151E	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	147					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CTTGTTGTGAATTTTTGGAAT	0.463																																						uc003irb.2		NA																	0					0						c.(439-441)GAA>GAG		kelch-like 2, Mayven isoform 1							151.0	141.0	144.0					4																	166184408		2203	4300	6503	SO:0001819	synonymous_variant	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166184408A>G	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.441A>G	4.37:g.166184408A>G						KLHL2_uc011cjm.1_Silent_p.E151E|KLHL2_uc003irc.2_Silent_p.E59E|KLHL2_uc010ira.2_5'UTR	p.E147E	NM_007246	NP_009177	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	5	700	+	all_hematologic(180;0.221)		147					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Silent	SNP	ENST00000226725.6	37	c.441A>G	CCDS34094.1																																																																																				0.463	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			32	61	0	0	0	0	32	61				
CCDC110	256309	broad.mit.edu	37	4	186380966	186380966	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:186380966C>T	ENST00000307588.3	-	6	850	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	CCDC110_ENST00000393540.3_Missense_Mutation_p.E222K|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000510617.1_Missense_Mutation_p.E259K	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	259						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AGTGCCACTTCCCCATCATGT	0.363																																						uc003ixu.3		NA																	0				central_nervous_system(1)	1						c.(775-777)GAA>AAA		coiled-coil domain containing 110 isoform a							119.0	117.0	117.0					4																	186380966		2203	4300	6503	SO:0001583	missense	256309					nucleus		g.chr4:186380966C>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.775G>A	4.37:g.186380966C>T	ENSP00000306776:p.Glu259Lys					CCDC110_uc003ixv.3_Missense_Mutation_p.E222K|CCDC110_uc011ckt.1_Missense_Mutation_p.E259K	p.E259K	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	851	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	259					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.775G>A	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.025970	0.54683	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.14266	2.54;2.52;2.52	5.65	5.65	0.86999	.	0.101891	0.43416	D	0.000571	T	0.33760	0.0874	M	0.64997	1.995	0.30728	N	0.747518	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.70487	0.969;0.957;0.969	T	0.16335	-1.0406	10	0.59425	D	0.04	-24.1607	14.2976	0.66325	0.0:0.8515:0.1485:0.0	.	259;222;259	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	K	222;259;259	ENSP00000377172:E222K;ENSP00000306776:E259K;ENSP00000427246:E259K	ENSP00000306776:E259K	E	-	1	0	CCDC110	186617960	0.990000	0.36364	0.955000	0.39395	0.437000	0.31866	2.277000	0.43417	2.675000	0.91044	0.650000	0.86243	GAA		0.363	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		6	114	0	0	0	0	6	114				
CCDC110	256309	broad.mit.edu	37	4	186380971	186380971	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:186380971T>A	ENST00000307588.3	-	6	845	c.770A>T	c.(769-771)gAt>gTt	p.D257V	CCDC110_ENST00000393540.3_Missense_Mutation_p.D220V|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000510617.1_Missense_Mutation_p.D257V	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	257						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CACTTCCCCATCATGTGACTT	0.358																																						uc003ixu.3		NA																	0				central_nervous_system(1)	1						c.(769-771)GAT>GTT		coiled-coil domain containing 110 isoform a							118.0	116.0	117.0					4																	186380971		2203	4300	6503	SO:0001583	missense	256309					nucleus		g.chr4:186380971T>A	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.770A>T	4.37:g.186380971T>A	ENSP00000306776:p.Asp257Val					CCDC110_uc003ixv.3_Missense_Mutation_p.D220V|CCDC110_uc011ckt.1_Missense_Mutation_p.D257V	p.D257V	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	846	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	257					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.770A>T	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.130777	0.37630	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.09350	3.0;2.99;3.0	5.65	5.65	0.86999	.	0.580257	0.16407	N	0.215776	T	0.21841	0.0526	L	0.56769	1.78	0.20563	N	0.99989	D;D;D	0.58970	0.984;0.98;0.984	P;P;P	0.53146	0.719;0.649;0.719	T	0.08534	-1.0717	10	0.66056	D	0.02	-4.2914	12.26	0.54645	0.0:0.0:0.0:1.0	.	257;220;257	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	V	220;257;257	ENSP00000377172:D220V;ENSP00000306776:D257V;ENSP00000427246:D257V	ENSP00000306776:D257V	D	-	2	0	CCDC110	186617965	0.005000	0.15991	0.005000	0.12908	0.442000	0.32017	1.570000	0.36439	2.160000	0.67779	0.528000	0.53228	GAT		0.358	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		6	110	0	0	0	0	6	110				
FAT1	2195	broad.mit.edu	37	4	187525001	187525001	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:187525001G>C	ENST00000441802.2	-	19	10888	c.10679C>G	c.(10678-10680)tCa>tGa	p.S3560*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3560	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GACGCCACCTGAGTATTCTTC	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(10678-10680)TCA>TGA		FAT tumor suppressor 1 precursor							86.0	87.0	87.0					4																	187525001		1962	4139	6101	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187525001G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10679C>G	4.37:g.187525001G>C	ENSP00000406229:p.Ser3560*	HNSCC(5;0.00058)					p.S3560*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			19	10867	-			3560			Extracellular (Potential).|Cadherin 33.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.10679C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	53	20.266983	0.99929	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.06	5.06	0.68205	.	0.208574	0.42964	D	0.000624	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	18.6333	0.91369	0.0:0.0:1.0:0.0	.	.	.	.	X	3560;3562	.	ENSP00000260147:S3562X	S	-	2	0	FAT1	187761995	1.000000	0.71417	0.849000	0.33467	0.740000	0.42216	7.814000	0.86154	2.636000	0.89361	0.563000	0.77884	TCA		0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		12	28	0	0	0	0	12	28				
FAT1	2195	broad.mit.edu	37	4	187525110	187525110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:187525110G>A	ENST00000441802.2	-	19	10779	c.10570C>T	c.(10570-10572)Cag>Tag	p.Q3524*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3524	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATGACAACTGAGGCTTTCCA	0.378										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(10570-10572)CAG>TAG		FAT tumor suppressor 1 precursor							59.0	60.0	60.0					4																	187525110		1877	4099	5976	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187525110G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10570C>T	4.37:g.187525110G>A	ENSP00000406229:p.Gln3524*	HNSCC(5;0.00058)					p.Q3524*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			19	10758	-			3524			Extracellular (Potential).|Cadherin 32.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.10570C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	51	17.800306	0.99893	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.06	5.06	0.68205	.	0.321665	0.33732	N	0.004612	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	18.6333	0.91369	0.0:0.0:1.0:0.0	.	.	.	.	X	3524;3526	.	ENSP00000260147:Q3526X	Q	-	1	0	FAT1	187762104	0.997000	0.39634	0.456000	0.27044	0.009000	0.06853	7.752000	0.85141	2.636000	0.89361	0.563000	0.77884	CAG		0.378	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		10	25	0	0	0	0	10	25				
CEP72	55722	broad.mit.edu	37	5	644450	644450	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:644450G>C	ENST00000264935.5	+	10	1666	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	526					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			ATCTTTGGAAGAGAACAGTAG	0.368																																						uc003jbf.2		NA																	0				ovary(1)	1						c.(1576-1578)GAG>CAG		centrosomal protein 72 kDa							142.0	146.0	145.0					5																	644450		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:644450G>C	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1576G>C	5.37:g.644450G>C	ENSP00000264935:p.Glu526Gln						p.E526Q	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		10	1648	+			526			Potential.		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.1576G>C	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240543	0.58995	.	.	ENSG00000112877	ENST00000264935	T	0.57752	0.38	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.74569	-0.3622	10	0.72032	D	0.01	-27.8963	13.3437	0.60559	0.0:0.0:1.0:0.0	.	526	Q9P209	CEP72_HUMAN	Q	526	ENSP00000264935:E526Q	ENSP00000264935:E526Q	E	+	1	0	CEP72	697450	1.000000	0.71417	0.999000	0.59377	0.505000	0.33919	3.963000	0.56773	2.277000	0.76020	0.561000	0.74099	GAG		0.368	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		4	107	0	0	0	0	4	107				
SLC6A3	6531	broad.mit.edu	37	5	1409145	1409145	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:1409145G>A	ENST00000270349.9	-	11	1621	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	SLC6A3_ENST00000453492.2_Silent_p.F498F	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	498					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACTCACCATAGAACCAGGCCA	0.582																																						uc003jck.2		NA																	0				ovary(3)|breast(2)|pancreas(1)	6						c.(1492-1494)TTC>TTT		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						50.0	44.0	46.0					5																	1409145		2201	4299	6500	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1409145G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1494C>T	5.37:g.1409145G>A							p.F498F	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		11	1615	-			498			Helical; Name=10; (Potential).		A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.1494C>T	CCDS3863.1																																																																																				0.582	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		8	8	0	0	0	0	8	8				
ADAMTS16	170690	broad.mit.edu	37	5	5242298	5242298	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:5242298G>A	ENST00000274181.7	+	17	2794	c.2656G>A	c.(2656-2658)Gga>Aga	p.G886R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	886	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGTGTCCTGCGGAGGGGGTAG	0.612																																						uc003jdl.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2656-2658)GGA>AGA		ADAM metallopeptidase with thrombospondin type 1							39.0	44.0	42.0					5																	5242298		2111	4231	6342	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5242298G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2656G>A	5.37:g.5242298G>A	ENSP00000274181:p.Gly886Arg					ADAMTS16_uc003jdk.1_Missense_Mutation_p.G886R	p.G886R	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			17	2794	+			886			TSP type-1 2.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2656G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898416	0.91962	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.64260	-0.09	5.77	5.77	0.91146	.	0.065628	0.64402	D	0.000011	T	0.79879	0.4522	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.951;0.985	T	0.81206	-0.1038	10	0.87932	D	0	.	18.7605	0.91849	0.0:0.0:1.0:0.0	.	886;886	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	R	886	ENSP00000274181:G886R	ENSP00000274181:G886R	G	+	1	0	ADAMTS16	5295298	1.000000	0.71417	0.997000	0.53966	0.791000	0.44710	8.275000	0.89892	2.727000	0.93392	0.650000	0.86243	GGA		0.612	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		20	46	0	0	0	0	20	46				
ADCY2	108	broad.mit.edu	37	5	7766894	7766894	+	Missense_Mutation	SNP	G	G	A	rs184691479		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:7766894G>A	ENST00000338316.4	+	17	2278	c.2189G>A	c.(2188-2190)cGt>cAt	p.R730H	ADCY2_ENST00000537121.1_Missense_Mutation_p.R550H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	730					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCGATTCTGCGTGCGCAGAAT	0.428																																						uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(2188-2190)CGT>CAT		adenylate cyclase 2							168.0	171.0	170.0					5																	7766894		2203	4300	6503	SO:0001583	missense	108				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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7766894G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2189G>A	5.37:g.7766894G>A	ENSP00000342952:p.Arg730His					ADCY2_uc011cmo.1_Missense_Mutation_p.R550H	p.R730H	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			17	2256	+			730					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2189G>A	CCDS3872.2	8	0.003663003663003663	0	0.0	0	0.0	7	0.012237762237762238	1	0.0013192612137203166	G	13.62	2.292998	0.40594	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.81739	-1.04;-1.53	5.46	2.25	0.28309	.	0.721850	0.13833	N	0.359590	T	0.56790	0.2009	N	0.22421	0.69	0.23550	N	0.997435	B;B	0.25667	0.131;0.003	B;B	0.21546	0.035;0.002	T	0.51624	-0.8682	10	0.44086	T	0.13	.	5.1188	0.14849	0.4807:0.0:0.5193:0.0	.	550;730	B7Z2C1;Q08462	.;ADCY2_HUMAN	H	730;563;550	ENSP00000342952:R730H;ENSP00000444803:R550H	ENSP00000342952:R730H	R	+	2	0	ADCY2	7819894	0.999000	0.42202	0.920000	0.36463	0.765000	0.43378	1.095000	0.30964	0.657000	0.30906	0.655000	0.94253	CGT		0.428	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		11	114	0	0	0	0	11	114				
FASTKD3	79072	broad.mit.edu	37	5	7868022	7868022	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:7868022G>C	ENST00000264669.5	-	2	311	c.175C>G	c.(175-177)Cat>Gat	p.H59D	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	59					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAATGGGCATGATGGAATTTG	0.438																																						uc003jeb.2		NA																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(175-177)CAT>GAT		FAST kinase domains 3							92.0	94.0	94.0					5																	7868022		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7868022G>C	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.175C>G	5.37:g.7868022G>C	ENSP00000264669:p.His59Asp					FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	p.H59D	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			2	312	-			59					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.175C>G	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	5.581	0.292029	0.10567	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.34667	1.35;1.35;1.35	4.95	4.06	0.47325	.	0.493770	0.19027	N	0.124664	T	0.32224	0.0822	M	0.69823	2.125	0.09310	N	1	P	0.34462	0.454	B	0.24974	0.057	T	0.33929	-0.9849	10	0.54805	T	0.06	-9.3176	7.4591	0.27285	0.086:0.0:0.7458:0.1682	.	59	Q14CZ7	FAKD3_HUMAN	D	59;59;42	ENSP00000264669:H59D;ENSP00000426008:H59D;ENSP00000422443:H42D	ENSP00000264669:H59D	H	-	1	0	FASTKD3	7921022	0.014000	0.17966	0.013000	0.15412	0.008000	0.06430	1.063000	0.30567	1.281000	0.44480	0.655000	0.94253	CAT		0.438	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		23	53	0	0	0	0	23	53				
TRIO	7204	broad.mit.edu	37	5	14381332	14381332	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:14381332G>C	ENST00000344204.4	+	21	3565	c.3541G>C	c.(3541-3543)Gag>Cag	p.E1181Q	TRIO_ENST00000537187.1_Missense_Mutation_p.E1181Q|TRIO_ENST00000509967.2_Missense_Mutation_p.E1132Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1181					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTCCTGAAAGAGCACGAGGA	0.473																																						uc003jff.2		NA																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(3541-3543)GAG>CAG		triple functional domain (PTPRF interacting)							76.0	75.0	75.0					5																	14381332		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14381332G>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3541G>C	5.37:g.14381332G>C	ENSP00000339299:p.Glu1181Gln					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E1132Q|TRIO_uc003jfh.1_Missense_Mutation_p.E830Q	p.E1181Q	NM_007118	NP_009049	O75962	TRIO_HUMAN			21	3547	+	Lung NSC(4;0.000742)		1181			Spectrin 4.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.3541G>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242166	0.79912	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.55413	0.52;0.52;0.52	5.28	5.28	0.74379	.	0.054669	0.64402	D	0.000001	T	0.67924	0.2945	L	0.47716	1.5	0.80722	D	1	D;B;D	0.69078	0.957;0.052;0.997	P;B;D	0.81914	0.772;0.022;0.995	T	0.68667	-0.5348	10	0.54805	T	0.06	.	18.9199	0.92520	0.0:0.0:1.0:0.0	.	1132;1181;1181	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	Q	1181;1181;1132;868	ENSP00000339299:E1181Q;ENSP00000446348:E1181Q;ENSP00000445592:E1132Q	ENSP00000339299:E1181Q	E	+	1	0	TRIO	14434332	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.837000	0.99465	2.470000	0.83445	0.655000	0.94253	GAG		0.473	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		18	45	0	0	0	0	18	45				
TRIO	7204	broad.mit.edu	37	5	14387879	14387879	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:14387879C>T	ENST00000344204.4	+	23	3828	c.3804C>T	c.(3802-3804)atC>atT	p.I1268I	TRIO_ENST00000537187.1_Silent_p.I1268I|TRIO_ENST00000509967.2_Silent_p.I1219I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1268					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CAGCCAGTATCCCTGGCTCAG	0.443																																						uc003jff.2		NA																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(3802-3804)ATC>ATT		triple functional domain (PTPRF interacting)							67.0	71.0	69.0					5																	14387879		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14387879C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3804C>T	5.37:g.14387879C>T						TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.I1219I|TRIO_uc003jfh.1_Silent_p.I917I	p.I1268I	NM_007118	NP_009049	O75962	TRIO_HUMAN			23	3810	+	Lung NSC(4;0.000742)		1268					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.3804C>T	CCDS3883.1																																																																																				0.443	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		4	53	0	0	0	0	4	53				
IL7R	3575	broad.mit.edu	37	5	35875625	35875625	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:35875625T>A	ENST00000303115.3	+	7	941	c.812T>A	c.(811-813)aTc>aAc	p.I271N	IL7R_ENST00000343305.4_Missense_Mutation_p.S240T|IL7R_ENST00000506850.1_Missense_Mutation_p.S240T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	271					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATTAAGCCTATCGTATGGCCC	0.428			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.2		NA		Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					0				ovary(3)|breast(1)|skin(1)	5						c.(811-813)ATC>AAC		interleukin 7 receptor precursor							115.0	102.0	107.0					5																	35875625		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35875625T>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.812T>A	5.37:g.35875625T>A	ENSP00000306157:p.Ile271Asn					IL7R_uc011coo.1_Missense_Mutation_p.S240T|IL7R_uc011cop.1_RNA	p.I271N	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		7	901	+	all_lung(31;0.00015)		271			Cytoplasmic (Potential).		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.812T>A	CCDS3911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.32|18.32	3.597534|3.597534	0.66332|0.66332	.|.	.|.	ENSG00000168685|ENSG00000168685	ENST00000303115;ENST00000505875|ENST00000343305;ENST00000506850;ENST00000505093	T;T|T;T	0.38401|0.50548	1.85;1.14|0.74;0.74	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.621580|.	0.17157|.	N|.	0.184858|.	T|T	0.35770|0.35770	0.0943|0.0943	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	P|B	0.45283|0.14012	0.855|0.009	B|B	0.38327|0.15484	0.271|0.013	T|T	0.17715|0.17715	-1.0360|-1.0360	10|9	0.72032|0.16896	D|T	0.01|0.51	-6.8019|-6.8019	12.4864|12.4864	0.55874|0.55874	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	271|240	P16871|D6RGV2	IL7RA_HUMAN|.	N|T	271;37|240;240;43	ENSP00000306157:I271N;ENSP00000420923:I37N|ENSP00000345819:S240T;ENSP00000421207:S240T	ENSP00000306157:I271N|ENSP00000345819:S240T	I|S	+|+	2|1	0|0	IL7R|IL7R	35911382|35911382	0.693000|0.693000	0.27728|0.27728	0.249000|0.249000	0.24280|0.24280	0.608000|0.608000	0.37181|0.37181	4.109000|4.109000	0.57824|0.57824	2.203000|2.203000	0.70933|0.70933	0.460000|0.460000	0.39030|0.39030	ATC|TCG		0.428	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			13	27	0	0	0	0	13	27				
IPO11	51194	broad.mit.edu	37	5	61747671	61747671	+	Nonsense_Mutation	SNP	C	C	T	rs138490998		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:61747671C>T	ENST00000325324.6	+	5	596	c.427C>T	c.(427-429)Cga>Tga	p.R143*	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Nonsense_Mutation_p.R183*	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	143					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GGATGATCTTCGACAGCACAG	0.403																																						uc003jtc.2		NA																	0				lung(2)|skin(2)	4						c.(427-429)CGA>TGA		Ran binding protein 11 isoform 2							138.0	127.0	131.0					5																	61747671		2203	4300	6503	SO:0001587	stop_gained	51194					cytoplasm|nucleus	protein binding	g.chr5:61747671C>T	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.427C>T	5.37:g.61747671C>T	ENSP00000316651:p.Arg143*					IPO11_uc011cqr.1_Nonsense_Mutation_p.R183*|IPO11_uc003jtb.1_Nonsense_Mutation_p.R143*	p.R143*	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	5	617	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	143			HEAT 1.		A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Nonsense_Mutation	SNP	ENST00000325324.6	37	c.427C>T	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385738	0.95967	.	.	ENSG00000086200	ENST00000514647;ENST00000325324;ENST00000506200;ENST00000409296	.	.	.	5.36	5.36	0.76844	.	0.126324	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	19.0966	0.93255	0.0:1.0:0.0:0.0	.	.	.	.	X	143;143;143;183	.	ENSP00000316651:R143X	R	+	1	2	IPO11	61783428	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.762000	0.85270	2.506000	0.84524	0.650000	0.86243	CGA		0.403	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		20	55	0	0	0	0	20	55				
GPR98	84059	broad.mit.edu	37	5	90050870	90050870	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:90050870G>C	ENST00000405460.2	+	55	11544	c.11448G>C	c.(11446-11448)ttG>ttC	p.L3816F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3816	Calx-beta 25. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCATTCACTTGAGAGCTCAAC	0.358																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(11446-11448)TTG>TTC		G protein-coupled receptor 98 precursor							145.0	140.0	142.0					5																	90050870		1876	4097	5973	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90050870G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11448G>C	5.37:g.90050870G>C	ENSP00000384582:p.Leu3816Phe					GPR98_uc003kjt.2_Missense_Mutation_p.L1522F|GPR98_uc003kjv.2_Missense_Mutation_p.L1416F	p.L3816F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	55	11544	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3816			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.11448G>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.83|12.83	2.054781|2.054781	0.36277|0.36277	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.36157|.	1.27|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.125337|.	0.56097|.	D|.	0.000026|.	T|.	0.75627|.	0.3875|.	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D|.	0.57899|.	0.981;0.976|.	P;P|.	0.53809|.	0.735;0.645|.	T|.	0.74203|.	-0.3741|.	10|.	0.08837|.	T|.	0.75|.	.|.	18.0646|18.0646	0.89387|0.89387	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3816;3816|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	F|S	3816|1382	ENSP00000384582:L3816F|.	ENSP00000296619:L3816F|.	L|X	+|+	3|2	2|2	GPR98|GPR98	90086626|90086626	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.073000|0.073000	0.16967|0.16967	3.802000|3.802000	0.55553|0.55553	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	TTG|TGA		0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		29	69	0	0	0	0	29	69				
ERAP2	64167	broad.mit.edu	37	5	96248384	96248384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:96248384C>T	ENST00000437043.3	+	16	3109	c.2398C>T	c.(2398-2400)Cag>Tag	p.Q800*	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Nonsense_Mutation_p.Q755*	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	800					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TGTGGGTGCTCAGACAACAGC	0.328																																						uc003kmq.2		NA																	0					0						c.(2398-2400)CAG>TAG		endoplasmic reticulum aminopeptidase 2							104.0	100.0	101.0					5																	96248384		2203	4300	6503	SO:0001587	stop_gained	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96248384C>T	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2398C>T	5.37:g.96248384C>T	ENSP00000400376:p.Gln800*					uc003kmo.1_Intron|ERAP2_uc003kmt.2_Nonsense_Mutation_p.Q800*|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Nonsense_Mutation_p.Q749*|ERAP2_uc003kmu.2_RNA	p.Q800*	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	16	3108	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	800			Lumenal (Potential).		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Nonsense_Mutation	SNP	ENST00000437043.3	37	c.2398C>T	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	C	38	7.020831	0.98006	.	.	ENSG00000164308	ENST00000437043;ENST00000379904	.	.	.	4.69	1.58	0.23477	.	0.662711	0.14245	N	0.331858	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	7.0235	0.24926	0.304:0.6111:0.0:0.0849	.	.	.	.	X	800;755	.	ENSP00000369235:Q755X	Q	+	1	0	ERAP2	96274140	0.969000	0.33509	0.590000	0.28732	0.733000	0.41908	1.100000	0.31025	0.467000	0.27218	0.563000	0.77884	CAG		0.328	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		16	42	0	0	0	0	16	42				
SRFBP1	153443	broad.mit.edu	37	5	121309963	121309963	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:121309963C>T	ENST00000339397.4	+	2	181	c.109C>T	c.(109-111)Cga>Tga	p.R37*		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		GAGTGTTGGCCGACTGAAGTC	0.313																																						uc003kst.1		NA																	0					0						c.(109-111)CGA>TGA		serum response factor binding protein 1							70.0	65.0	67.0					5																	121309963		1816	4073	5889	SO:0001587	stop_gained	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121309963C>T	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.109C>T	5.37:g.121309963C>T	ENSP00000341324:p.Arg37*						p.R37*	NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	2	181	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	37						Nonsense_Mutation	SNP	ENST00000339397.4	37	c.109C>T	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	C	36	5.647291	0.96714	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.94	2.12	0.27331	.	0.420042	0.28026	N	0.016891	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0227	8.054	0.30593	0.6029:0.2701:0.0:0.127	.	.	.	.	X	37	.	ENSP00000341324:R37X	R	+	1	2	SRFBP1	121337862	0.989000	0.36119	0.523000	0.27875	0.967000	0.64934	2.746000	0.47467	0.123000	0.18342	-0.265000	0.10407	CGA		0.313	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		8	16	0	0	0	0	8	16				
PCDHGA3	56112	broad.mit.edu	37	5	140724426	140724426	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:140724426C>A	ENST00000253812.6	+	1	826	c.826C>A	c.(826-828)Caa>Aaa	p.Q276K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	276	Cadherin 3. {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(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCAATGCTCAAGTGTCTTA	0.448																																						uc003ljm.1		NA																	0				breast(1)	1						c.(826-828)CAA>AAA		protocadherin gamma subfamily A, 3 isoform 1							46.0	47.0	47.0					5																	140724426		1970	4189	6159	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140724426C>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.826C>A	5.37:g.140724426C>A	ENSP00000253812:p.Gln276Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.Q36K|PCDHGA3_uc011dap.1_Missense_Mutation_p.Q276K	p.Q276K	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	826	+			276			Cadherin 3.|Extracellular (Potential).		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.826C>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	4.781	0.145185	0.09134	.	.	ENSG00000254245	ENST00000253812	T	0.49720	0.77	5.31	3.39	0.38822	Cadherin (4);Cadherin-like (1);	0.274577	0.18843	U	0.129618	T	0.27832	0.0685	N	0.04655	-0.195	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.006;0.006	T	0.19289	-1.0310	10	0.38643	T	0.18	.	15.4993	0.75684	0.0:0.6265:0.3735:0.0	.	276;276	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	K	276	ENSP00000253812:Q276K	ENSP00000253812:Q276K	Q	+	1	0	PCDHGA3	140704610	0.000000	0.05858	0.988000	0.46212	0.367000	0.29736	0.070000	0.14573	1.364000	0.46038	0.655000	0.94253	CAA		0.448	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		16	33	1	0	0.000422831	0.000564477	16	33				
PCDHGA10	56106	broad.mit.edu	37	5	140794543	140794543	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:140794543G>A	ENST00000398610.2	+	1	1801	c.1801G>A	c.(1801-1803)Gac>Aac	p.D601N	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGACAGAGACTCCGGCCA	0.716																																						uc003lkl.1		NA																	0					0						c.(1801-1803)GAC>AAC		protocadherin gamma subfamily A, 10 isoform 1							51.0	61.0	58.0					5																	140794543		2201	4294	6495	SO:0001583	missense	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140794543G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1801G>A	5.37:g.140794543G>A	ENSP00000381611:p.Asp601Asn					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.D601N|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	p.D601N	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1801	+			601			Cadherin 6.|Extracellular (Potential).		Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.1801G>A	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	g	29.6	5.016785	0.93404	.	.	ENSG00000253846	ENST00000398610	T	0.74002	-0.8	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.93485	0.7921	H	0.99847	4.84	0.43703	D	0.996166	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96382	0.9282	9	0.87932	D	0	.	19.3639	0.94454	0.0:0.0:1.0:0.0	.	601;601	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	N	601	ENSP00000381611:D601N	ENSP00000381611:D601N	D	+	1	0	PCDHGA10	140774727	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.550000	0.98110	2.673000	0.90976	0.650000	0.86243	GAC		0.716	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		38	108	0	0	0	0	38	108				
NR3C1	2908	broad.mit.edu	37	5	142780147	142780147	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:142780147C>G	ENST00000343796.2	-	2	1251	c.258G>C	c.(256-258)atG>atC	p.M86I	NR3C1_ENST00000504572.1_Missense_Mutation_p.M86I|NR3C1_ENST00000394466.2_Missense_Mutation_p.M86I|NR3C1_ENST00000231509.3_Missense_Mutation_p.M86I|NR3C1_ENST00000424646.2_Missense_Mutation_p.M86I|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Missense_Mutation_p.M86I|NR3C1_ENST00000503201.1_Missense_Mutation_p.M86I|NR3C1_ENST00000394464.2_Missense_Mutation_p.M86I	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	86	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	TATACAGTCCCATTGAGAGTG	0.473																																						uc003lmz.2		NA																	0				ovary(2)	2						c.(256-258)ATG>ATC		glucocorticoid receptor isoform alpha	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						130.0	145.0	140.0					5																	142780147		2203	4300	6503	SO:0001583	missense	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142780147C>G	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.258G>C	5.37:g.142780147C>G	ENSP00000343205:p.Met86Ile					NR3C1_uc003lmy.2_Missense_Mutation_p.M86I|NR3C1_uc003lna.2_Missense_Mutation_p.M86I|NR3C1_uc003lnb.2_Missense_Mutation_p.M86I|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Missense_Mutation_p.M86I|NR3C1_uc003lnd.2_Missense_Mutation_p.M86I|NR3C1_uc003lne.2_Missense_Mutation_p.M86I|NR3C1_uc003lnf.2_Missense_Mutation_p.M86I|NR3C1_uc003lng.2_Missense_Mutation_p.M86I|NR3C1_uc003lnh.2_Missense_Mutation_p.M86I|NR3C1_uc003lni.2_Missense_Mutation_p.M86I	p.M86I	NM_000176	NP_000167	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	750	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	86			Modulating.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.258G>C	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747921	0.69533	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201;ENST00000510170;ENST00000508760;ENST00000502892;ENST00000514699;ENST00000502500	T;T;T;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;1.29;1.29;1.29	5.14	5.14	0.70334	.	0.090704	0.85682	D	0.000000	T	0.58694	0.2140	L	0.61036	1.89	0.80722	D	1	D;D;D	0.60575	0.988;0.969;0.988	D;D;D	0.74348	0.983;0.968;0.983	T	0.58160	-0.7685	10	0.46703	T	0.11	.	18.6301	0.91357	0.0:1.0:0.0:0.0	.	86;86;86	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	I	86	ENSP00000377977:M86I;ENSP00000343205:M86I;ENSP00000387672:M86I;ENSP00000405282:M86I;ENSP00000422518:M86I;ENSP00000377979:M86I;ENSP00000231509:M86I;ENSP00000427672:M86I;ENSP00000424747:M86I;ENSP00000425313:M86I;ENSP00000420856:M86I;ENSP00000426478:M86I;ENSP00000425374:M86I	ENSP00000231509:M86I	M	-	3	0	NR3C1	142760340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.517000	0.53443	2.400000	0.81607	0.561000	0.74099	ATG		0.473	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			4	169	0	0	0	0	4	169				
SLC36A3	285641	broad.mit.edu	37	5	150660632	150660632	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:150660632C>T	ENST00000335230.3	-	9	1498	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	SLC36A3_ENST00000377713.3_Missense_Mutation_p.E404K	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	363						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCAGCTCTCTGACACTTGG	0.507																																						uc003ltw.2		NA																	0				ovary(2)|skin(1)	3						c.(1087-1089)GAG>AAG		solute carrier family 36, member 3 isoform 2							178.0	145.0	156.0					5																	150660632		2203	4300	6503	SO:0001583	missense	285641					integral to membrane		g.chr5:150660632C>T	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1087G>A	5.37:g.150660632C>T	ENSP00000334750:p.Glu363Lys					GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Missense_Mutation_p.E348K|SLC36A3_uc003ltx.2_Missense_Mutation_p.E404K	p.E363K	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1506	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	363			Cytoplasmic (Potential).		Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	c.1087G>A	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512920	0.27123	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02121	4.44;4.44	4.06	4.06	0.47325	.	0.363547	0.29752	N	0.011295	T	0.02012	0.0063	N	0.13299	0.325	0.41736	D	0.989581	B;B;B	0.20368	0.006;0.044;0.04	B;B;B	0.28011	0.07;0.085;0.034	T	0.53676	-0.8405	10	0.09084	T	0.74	.	16.7998	0.85611	0.0:1.0:0.0:0.0	.	404;363;348	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	K	363;404	ENSP00000334750:E363K;ENSP00000366942:E404K	ENSP00000334750:E363K	E	-	1	0	SLC36A3	150640825	0.985000	0.35326	0.994000	0.49952	0.828000	0.46876	3.426000	0.52778	2.249000	0.74217	0.561000	0.74099	GAG		0.507	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		23	43	0	0	0	0	23	43				
CLINT1	9685	broad.mit.edu	37	5	157218825	157218825	+	Silent	SNP	G	G	A	rs150043675		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:157218825G>A	ENST00000411809.2	-	10	1470	c.1266C>T	c.(1264-1266)gaC>gaT	p.D422D	CLINT1_ENST00000530742.1_Silent_p.D404D|CLINT1_ENST00000296951.5_Silent_p.D404D|CLINT1_ENST00000523908.1_Silent_p.D422D|CLINT1_ENST00000523094.1_Silent_p.D404D	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	422					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATCAAACAGGTCTGAAGAAT	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19349	0.0		0.001	False		,,,				2504	0.0				Colon(22;427 587 2170 6147 14291)	uc003lxj.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1264-1266)GAC>GAT		epsin 4							94.0	100.0	98.0					5																	157218825		2045	4198	6243	SO:0001819	synonymous_variant	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157218825G>A	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1266C>T	5.37:g.157218825G>A						CLINT1_uc003lxg.1_5'Flank|CLINT1_uc003lxh.1_5'UTR|CLINT1_uc003lxi.1_Silent_p.D404D|CLINT1_uc011ddv.1_Silent_p.D422D	p.D422D	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		10	1456	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	422	D->R: Strongly decreases clathrin binding.				B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Silent	SNP	ENST00000411809.2	37	c.1266C>T	CCDS47330.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	8.198	0.797612	0.16327	.	.	ENSG00000113282	ENST00000521615	.	.	.	5.69	0.223	0.15292	.	.	.	.	.	T	0.58206	0.2106	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53781	-0.8390	4	.	.	.	-6.313	10.8306	0.46659	0.4457:0.0:0.5543:0.0	.	.	.	.	S	114	.	.	P	-	1	0	CLINT1	157151403	0.998000	0.40836	0.936000	0.37596	0.965000	0.64279	0.385000	0.20685	0.137000	0.18759	-0.143000	0.13931	CCT		0.502	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		8	92	0	0	0	0	8	92				
STK10	6793	broad.mit.edu	37	5	171534828	171534828	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:171534828C>G	ENST00000176763.5	-	5	892	c.549G>C	c.(547-549)ctG>ctC	p.L183L		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	183	Activation segment.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTAGAGTCTTCAGATTCTTGG	0.493											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003mbo.1		NA																	0				ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(547-549)CTG>CTC		serine/threonine kinase 10							86.0	83.0	84.0					5																	171534828		2203	4300	6503	SO:0001819	synonymous_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171534828C>G	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.549G>C	5.37:g.171534828C>G			OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1893		p.L183L	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	849	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	183			Protein kinase.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	ENST00000176763.5	37	c.549G>C	CCDS34290.1																																																																																				0.493	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		8	33	0	0	0	0	8	33				
FGFR4	2264	broad.mit.edu	37	5	176523644	176523644	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:176523644C>T	ENST00000292408.4	+	16	2300	c.2055C>T	c.(2053-2055)ctC>ctT	p.L685L	FGFR4_ENST00000393648.2_Silent_p.L617L|FGFR4_ENST00000502906.1_Silent_p.L685L|FGFR4_ENST00000292410.3_Silent_p.L645L|FGFR4_ENST00000393637.1_Silent_p.L645L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	685	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	TCTTCACCCTCGGGGGCTCCC	0.667										TSP Lung(9;0.080)																												uc003mfl.2		NA																	0				lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16						c.(2053-2055)CTC>CTT		fibroblast growth factor receptor 4 isoform 1	Palifermin(DB00039)						73.0	73.0	73.0					5																	176523644		2203	4300	6503	SO:0001819	synonymous_variant	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176523644C>T	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2055C>T	5.37:g.176523644C>T		TSP Lung(9;0.080)				FGFR4_uc003mfm.2_Silent_p.L685L|FGFR4_uc011dfu.1_Silent_p.L617L|FGFR4_uc003mfo.2_Silent_p.L645L	p.L685L	NM_002011	NP_002002	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2222	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	685			Protein kinase.|Cytoplasmic (Potential).		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	ENST00000292408.4	37	c.2055C>T	CCDS4410.1																																																																																				0.667	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			13	33	0	0	0	0	13	33				
DSP	1832	broad.mit.edu	37	6	7586033	7586033	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:7586033G>A	ENST00000379802.3	+	24	8879	c.8538G>A	c.(8536-8538)cgG>cgA	p.R2846R	DSP_ENST00000418664.2_Silent_p.R2247R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2846	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGGGTCCCGGAGAGGAAGCT	0.577																																						uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(8536-8538)CGG>CGA		desmoplakin isoform I							69.0	80.0	76.0					6																	7586033		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7586033G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8538G>A	6.37:g.7586033G>A						DSP_uc003mxq.1_Silent_p.R2247R	p.R2846R	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8817	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2846			6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.8538G>A	CCDS4501.1																																																																																				0.577	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		39	119	0	0	0	0	39	119				
NHLRC1	378884	broad.mit.edu	37	6	18122513	18122513	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:18122513T>A	ENST00000340650.3	-	1	338	c.325A>T	c.(325-327)Agc>Tgc	p.S109C		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	109					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CCGGGGGCGCTGGGGGCGGCG	0.731																																						uc003ncl.1		NA																	0					0						c.(325-327)AGC>TGC		NHL repeat containing 1							8.0	11.0	10.0					6																	18122513		2167	4225	6392	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18122513T>A	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.325A>T	6.37:g.18122513T>A	ENSP00000345464:p.Ser109Cys						p.S109C	NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	339	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	109					Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.325A>T	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.427806	0.25726	.	.	ENSG00000187566	ENST00000340650	D	0.97138	-4.26	5.23	-10.5	0.00291	.	1.217190	0.05545	N	0.566418	T	0.77096	0.4080	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.73943	-0.3823	10	0.51188	T	0.08	0.0975	1.5632	0.02599	0.1146:0.2759:0.2351:0.3744	.	109	Q6VVB1	NHLC1_HUMAN	C	109	ENSP00000345464:S109C	ENSP00000345464:S109C	S	-	1	0	NHLRC1	18230492	0.000000	0.05858	0.000000	0.03702	0.915000	0.54546	-2.308000	0.01131	-2.939000	0.00298	-0.438000	0.05819	AGC		0.731	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			7	20	0	0	0	0	7	20				
NHLRC1	378884	broad.mit.edu	37	6	18122525	18122525	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:18122525G>A	ENST00000340650.3	-	1	326	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	105					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGGGCGGCGCGATGGGCGGCC	0.726																																						uc003ncl.1		NA																	0					0						c.(313-315)CGC>TGC		NHL repeat containing 1							7.0	9.0	9.0					6																	18122525		2150	4192	6342	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18122525G>A	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.313C>T	6.37:g.18122525G>A	ENSP00000345464:p.Arg105Cys						p.R105C	NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	327	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	105					Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.313C>T	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	G	6.270	0.417852	0.11870	.	.	ENSG00000187566	ENST00000340650	D	0.97256	-4.31	5.23	-0.92	0.10475	.	0.768125	0.12207	N	0.489711	D	0.84170	0.5413	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.76269	-0.3021	10	0.54805	T	0.06	-4.4004	1.7437	0.02958	0.2342:0.1075:0.4128:0.2455	.	105	Q6VVB1	NHLC1_HUMAN	C	105	ENSP00000345464:R105C	ENSP00000345464:R105C	R	-	1	0	NHLRC1	18230504	0.000000	0.05858	0.070000	0.20053	0.271000	0.26615	-0.902000	0.04088	-0.117000	0.11872	0.655000	0.94253	CGC		0.726	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			5	15	0	0	0	0	5	15				
HIST1H2BB	3018	broad.mit.edu	37	6	26043802	26043802	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:26043802C>T	ENST00000357905.2	-	1	83	c.84G>A	c.(82-84)aaG>aaA	p.K28K	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	28					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCTTACGCTTCTTACCATCCT	0.507																																						uc003nfu.2		NA																	0					0						c.(82-84)AAG>AAA		histone cluster 1, H2bb							159.0	150.0	153.0					6																	26043802		2203	4300	6503	SO:0001819	synonymous_variant	3018				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26043802C>T	AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"""Histones / Replication-dependent"""	4751	protein-coding gene	gene with protein product		602803	"""H2B histone family, member F"", ""histone 1, H2bb"""	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.84G>A	6.37:g.26043802C>T						HIST1H3C_uc003nfv.2_5'Flank	p.K28K	NM_021062	NP_066406	P33778	H2B1B_HUMAN			1	84	-			28					Q4KN36	Silent	SNP	ENST00000357905.2	37	c.84G>A	CCDS4575.1																																																																																				0.507	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040083.1	NM_021062		45	128	0	0	0	0	45	128				
HIST1H3I	8354	broad.mit.edu	37	6	27839926	27839926	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:27839926C>T	ENST00000328488.2	-	1	173	c.168G>A	c.(166-168)caG>caA	p.Q56Q		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	56					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGGTCGACTTCTGGTAGCGGC	0.657																																						uc003njy.2		NA																	0				ovary(1)	1						c.(166-168)CAG>CAA		histone cluster 1, H3i							59.0	65.0	63.0					6																	27839926		2203	4300	6503	SO:0001819	synonymous_variant	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27839926C>T	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.168G>A	6.37:g.27839926C>T							p.Q56Q	NM_003533	NP_003524	P68431	H31_HUMAN			1	174	-			56					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000328488.2	37	c.168G>A	CCDS4636.1																																																																																				0.657	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		37	68	0	0	0	0	37	68				
HLA-A	3105	broad.mit.edu	37	6	29910684	29910684	+	Nonsense_Mutation	SNP	G	G	A	rs41542016		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:29910684G>A	ENST00000396634.1	+	4	565	c.224G>A	c.(223-225)tGg>tAg	p.W75*	HLA-A_ENST00000376809.5_Nonsense_Mutation_p.W75*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.W75*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.W75*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	75	Alpha-1.				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						CGGGCGCCGTGGATAGAGCAG	0.677									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.(223-225)TGG>TAG		major histocompatibility complex, class I, A							47.0	50.0	49.0					6																	29910684		2203	4297	6500	SO:0001587	stop_gained	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.chr6:29910684G>A	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.224G>A	6.37:g.29910684G>A	ENSP00000379873:p.Trp75*	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Nonsense_Mutation_p.W75*|HLA-A_uc003noo.2_Nonsense_Mutation_p.W75*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.W75*|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Nonsense_Mutation_p.W47*|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	p.W75*	NM_002116	NP_002107	P30443	1A01_HUMAN			2	224	+			75			Extracellular (Potential).|Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	ENST00000396634.1	37	c.224G>A	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	38	6.946752	0.97956	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.72	2.83	0.33086	.	0.000000	0.29972	U	0.010735	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8732	0.35330	0.0:0.0:0.778:0.222	rs41542016	.	.	.	X	75	.	ENSP00000348012:W75X	W	+	2	0	HLA-A	30018663	0.875000	0.30112	0.032000	0.17829	0.410000	0.31052	1.332000	0.33805	0.903000	0.36546	0.478000	0.44815	TGG		0.677	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		3	17	0	0	0	0	3	17				
MDC1	9656	broad.mit.edu	37	6	30671427	30671427	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:30671427C>T	ENST00000376406.3	-	10	6180	c.5533G>A	c.(5533-5535)Gat>Aat	p.D1845N	MDC1_ENST00000376405.2_Missense_Mutation_p.D1581N|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1845	Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCTGCAGTATCTTCTTCCTCT	0.483								Other conserved DNA damage response genes																														uc003nrg.3		NA																	0				breast(2)|ovary(1)|kidney(1)	4						c.(5533-5535)GAT>AAT	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							161.0	165.0	164.0					6																	30671427		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30671427C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5533G>A	6.37:g.30671427C>T	ENSP00000365588:p.Asp1845Asn					MDC1_uc003nrf.3_Missense_Mutation_p.D476N|MDC1_uc011dmp.1_Missense_Mutation_p.D1452N	p.D1845N	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	5973	-			1845			Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.5533G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453330	0.26161	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.04970	3.52;3.52	3.92	2.04	0.26737	.	0.741849	0.11062	N	0.603870	T	0.01661	0.0053	L	0.39898	1.24	0.09310	N	1	B;B;B	0.25169	0.119;0.007;0.009	B;B;B	0.28991	0.097;0.005;0.007	T	0.47873	-0.9083	10	0.17369	T	0.5	0.1434	5.2479	0.15506	0.0:0.7223:0.0:0.2777	.	1581;1845;822	Q14676-2;Q14676;Q14676-4	.;MDC1_HUMAN;.	N	1845;1581;1558;1411	ENSP00000365588:D1845N;ENSP00000365587:D1581N	ENSP00000365587:D1581N	D	-	1	0	MDC1	30779406	0.020000	0.18652	0.004000	0.12327	0.069000	0.16628	1.643000	0.37217	0.933000	0.37291	0.555000	0.69702	GAT		0.483	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		59	143	0	0	0	0	59	143				
MUC21	394263	broad.mit.edu	37	6	30954680	30954680	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:30954680C>G	ENST00000376296.3	+	2	969	c.728C>G	c.(727-729)tCt>tGt	p.S243C	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	243	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGAGTCCAGC	0.642																																						uc003nsh.2		NA																	0				ovary(1)|skin(1)	2						c.(727-729)TCT>TGT		mucin 21 precursor							138.0	141.0	140.0					6																	30954680		2203	4299	6502	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954680C>G	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.728C>G	6.37:g.30954680C>G	ENSP00000365473:p.Ser243Cys					MUC21_uc003nsi.1_RNA	p.S243C	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			2	979	+			243			Ser-rich.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.728C>G	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320029	0.23994	.	.	ENSG00000204544	ENST00000376296	T	0.02498	4.27	4.3	1.45	0.22620	.	.	.	.	.	T	0.01558	0.0050	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.64595	0.927	T	0.43458	-0.9390	8	.	.	.	0.5153	1.432	0.02336	0.1737:0.4632:0.1688:0.1943	.	243	Q5SSG8	MUC21_HUMAN	C	243	ENSP00000365473:S243C	.	S	+	2	0	MUC21	31062659	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.292000	0.19011	0.180000	0.19960	0.491000	0.48974	TCT		0.642	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		7	305	0	0	0	0	7	305				
HLA-B	3106	broad.mit.edu	37	6	31323241	31323241	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:31323241G>C	ENST00000412585.2	-	4	776	c.748C>G	c.(748-750)Cag>Gag	p.Q250E		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	250	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGTGTCCTGAGTTTGGTCC	0.587									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc003nth.2		NA																	0					0						c.(748-750)CAG>GAG		major histocompatibility complex, class I, B							112.0	98.0	102.0					6																	31323241		2203	4300	6503	SO:0001583	missense	3106	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	Familial Cancer Database	;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.chr6:31323241G>C	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.748C>G	6.37:g.31323241G>C	ENSP00000399168:p.Gln250Glu					HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.Q129E|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA	p.Q250E	NM_005514	NP_005505	P01889	1B07_HUMAN			4	802	-			250			Alpha-3.|Ig-like C1-type.|Extracellular (Potential).		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	c.748C>G	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	7.762	0.705516	0.15172	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	T	0.02472	4.28	3.16	3.16	0.36331	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.39834	U	0.001254	T	0.04770	0.0129	L	0.49513	1.565	0.27829	N	0.941517	D	0.52996	0.957	D	0.68039	0.955	T	0.06862	-1.0803	10	0.87932	D	0	.	12.2525	0.54605	0.0:0.0:1.0:0.0	.	250	P01889	1B07_HUMAN	E	250;129;129	ENSP00000399168:Q250E	ENSP00000399168:Q250E	Q	-	1	0	HLA-B	31431220	0.998000	0.40836	0.983000	0.44433	0.035000	0.12851	3.446000	0.52928	1.804000	0.52760	0.442000	0.29010	CAG		0.587	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		29	65	0	0	0	0	29	65				
HLA-B	3106	broad.mit.edu	37	6	31324637	31324637	+	Missense_Mutation	SNP	G	G	C	rs41546213		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:31324637G>C	ENST00000412585.2	-	2	199	c.171C>G	c.(169-171)ttC>ttG	p.F57L		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	57	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CGAACCTCACGAACTGGGTGT	0.657									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc003nth.2		NA																	0					0						c.(169-171)TTC>TTG		major histocompatibility complex, class I, B							39.0	32.0	34.0					6																	31324637		2155	4182	6337	SO:0001583	missense	3106	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	Familial Cancer Database	;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.chr6:31324637G>C	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.171C>G	6.37:g.31324637G>C	ENSP00000399168:p.Phe57Leu					HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Missense_Mutation_p.F57L|HLA-B_uc003ntg.1_5'Flank|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_Missense_Mutation_p.F29L	p.F57L	NM_005514	NP_005505	P01889	1B07_HUMAN			2	225	-			57			Alpha-1.|Extracellular (Potential).		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	c.171C>G	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	10.10	1.257585	0.22965	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.01295	5.04;5.04	3.2	2.33	0.28932	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	0.231155	0.21777	U	0.069269	T	0.05914	0.0154	H	0.97365	3.99	0.28993	N	0.887931	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.994;0.998;0.996	T	0.11155	-1.0599	10	0.87932	D	0	.	5.5908	0.17299	0.2557:0.0:0.7443:0.0	rs41546213	57;57;32	P30480;P01889;Q92671	1B42_HUMAN;1B07_HUMAN;.	L	57;68	ENSP00000399168:F57L;ENSP00000405931:F68L	ENSP00000399168:F57L	F	-	3	2	HLA-B	31432616	0.915000	0.31059	0.988000	0.46212	0.004000	0.04260	1.423000	0.34837	0.704000	0.31869	-0.390000	0.06520	TTC		0.657	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		11	18	0	0	0	0	11	18				
PACSIN1	29993	broad.mit.edu	37	6	34498110	34498110	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:34498110C>T	ENST00000538621.1	+	7	1124	c.879C>T	c.(877-879)ccC>ccT	p.P293P	PACSIN1_ENST00000374043.2_Silent_p.P251P|PACSIN1_ENST00000244458.2_Silent_p.P293P	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	293	F-BAR domain.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CCAGTGGCCCCGGCATGCCCA	0.617																																						uc003ojo.2		NA																	0					0						c.(877-879)CCC>CCT		protein kinase C and casein kinase substrate in							53.0	53.0	53.0					6																	34498110		2203	4300	6503	SO:0001819	synonymous_variant	29993				endocytosis		protein kinase activity	g.chr6:34498110C>T	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.879C>T	6.37:g.34498110C>T						PACSIN1_uc003ojp.2_Silent_p.P293P	p.P293P	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN			7	1085	+			293					Q9P2G8	Silent	SNP	ENST00000538621.1	37	c.879C>T	CCDS4793.1																																																																																				0.617	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			16	27	0	0	0	0	16	27				
LRFN2	57497	broad.mit.edu	37	6	40359796	40359796	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:40359796C>G	ENST00000338305.6	-	3	2798	c.2256G>C	c.(2254-2256)tgG>tgC	p.W752C		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	752						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCGCTTCGTCCAGATGTTCG	0.642																																						uc003oph.1		NA																	0				ovary(2)|skin(1)	3						c.(2254-2256)TGG>TGC		leucine rich repeat and fibronectin type III							47.0	45.0	46.0					6																	40359796		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40359796C>G	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2256G>C	6.37:g.40359796C>G	ENSP00000345985:p.Trp752Cys						p.W752C	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			3	2721	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		752			Cytoplasmic (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.2256G>C	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350565	0.61183	.	.	ENSG00000156564	ENST00000338305	T	0.59906	0.23	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	L	0.52905	1.665	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.68176	-0.5478	10	0.54805	T	0.06	.	17.4237	0.87521	0.0:1.0:0.0:0.0	.	752	Q9ULH4	LRFN2_HUMAN	C	752	ENSP00000345985:W752C	ENSP00000345985:W752C	W	-	3	0	LRFN2	40467774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.865000	0.62998	2.462000	0.83206	0.549000	0.68633	TGG		0.642	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		11	24	0	0	0	0	11	24				
GPR115	221393	broad.mit.edu	37	6	47680160	47680160	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:47680160G>A	ENST00000283303.2	+	5	626	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	GPR115_ENST00000327753.3_Missense_Mutation_p.R123Q|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.R180Q	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	123					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CTAGACTTTCGAGCTCCAGAG	0.418																																					GBM(22;431 510 9010 26644 32828)	uc003oza.1		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(367-369)CGA>CAA		G-protein coupled receptor 115 precursor							151.0	141.0	144.0					6																	47680160		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47680160G>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.368G>A	6.37:g.47680160G>A	ENSP00000283303:p.Arg123Gln					GPR115_uc003oyz.1_Missense_Mutation_p.R180Q|GPR115_uc003ozb.1_Missense_Mutation_p.R121Q	p.R123Q	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			5	626	+			123			Extracellular (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.368G>A	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	9.667	1.145722	0.21288	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.34072	1.6;1.38;1.38	5.06	-0.433	0.12287	.	1.859300	0.02305	N	0.071614	T	0.07954	0.0199	L	0.31294	0.92	0.09310	N	1	B	0.14805	0.011	B	0.04013	0.001	T	0.09975	-1.0650	10	0.13470	T	0.59	1.7664	4.9084	0.13809	0.3549:0.2129:0.4322:0.0	.	123	Q8IZF3	GP115_HUMAN	Q	180;123;123	ENSP00000360264:R180Q;ENSP00000328319:R123Q;ENSP00000283303:R123Q	ENSP00000283303:R123Q	R	+	2	0	GPR115	47788119	0.000000	0.05858	0.003000	0.11579	0.128000	0.20619	-0.527000	0.06200	-0.208000	0.10171	0.655000	0.94253	CGA		0.418	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		30	74	0	0	0	0	30	74				
SMAP1	60682	broad.mit.edu	37	6	71442124	71442124	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:71442124C>T	ENST00000370455.3	+	2	410	c.162C>T	c.(160-162)atC>atT	p.I54I	SMAP1_ENST00000316999.5_Silent_p.I54I|SMAP1_ENST00000370452.3_Silent_p.I54I|SMAP1_ENST00000422334.2_Silent_p.I54I	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	54	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						TTATTTGCATCAGATGTGCTG	0.363																																						uc003pfr.2		NA																	0					0						c.(160-162)ATC>ATT		stromal membrane-associated GTPase-activating							138.0	137.0	137.0					6																	71442124		2203	4300	6503	SO:0001819	synonymous_variant	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71442124C>T	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.162C>T	6.37:g.71442124C>T						SMAP1_uc011dxy.1_RNA|SMAP1_uc003pfs.2_Silent_p.I54I|SMAP1_uc010kao.2_Silent_p.I54I|SMAP1_uc010kap.2_Silent_p.I44I	p.I54I	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN			2	410	+			54			C4-type.|Arf-GAP.		Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Silent	SNP	ENST00000370455.3	37	c.162C>T	CCDS43478.1																																																																																				0.363	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		12	54	0	0	0	0	12	54				
IMPG1	3617	broad.mit.edu	37	6	76660391	76660391	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:76660391C>T	ENST00000369950.3	-	13	1901	c.1712G>A	c.(1711-1713)cGa>cAa	p.R571Q	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TACCAGCTCTCGGCCCTTGGG	0.488																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1		NA																	0				ovary(2)|skin(1)	3						c.(1711-1713)CGA>CAA		interphotoreceptor matrix proteoglycan 1							75.0	70.0	72.0					6																	76660391		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76660391C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1712G>A	6.37:g.76660391C>T	ENSP00000358966:p.Arg571Gln						p.R571Q	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			13	1842	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	571			SEA 2.			Missense_Mutation	SNP	ENST00000369950.3	37	c.1712G>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	9.756	1.168775	0.21621	.	.	ENSG00000112706	ENST00000369950	T	0.32988	1.43	5.87	-3.56	0.04626	SEA (1);	0.689022	0.13389	N	0.391533	T	0.02533	0.0077	N	0.04508	-0.205	0.25808	N	0.984439	B	0.23249	0.082	B	0.15052	0.012	T	0.42050	-0.9474	10	0.02654	T	1	.	10.7391	0.46143	0.0:0.0804:0.0933:0.8263	.	571	Q17R60	IMPG1_HUMAN	Q	571	ENSP00000358966:R571Q	ENSP00000358966:R571Q	R	-	2	0	IMPG1	76717111	0.338000	0.24775	0.288000	0.24862	0.903000	0.53119	0.688000	0.25422	-0.863000	0.04084	-0.157000	0.13467	CGA		0.488	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		8	56	0	0	0	0	8	56				
WASF1	8936	broad.mit.edu	37	6	110423089	110423089	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:110423089C>T	ENST00000392589.1	-	10	2060	c.1224G>A	c.(1222-1224)gaG>gaA	p.E408E	WASF1_ENST00000392587.2_Silent_p.E408E|WASF1_ENST00000392586.1_Silent_p.E408E|WASF1_ENST00000392588.1_Silent_p.E408E|WASF1_ENST00000359451.2_Silent_p.E408E	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	408					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CTGGTACAGTCTCACATACTG	0.577																																						uc003ptv.1		NA																	0					0						c.(1222-1224)GAG>GAA		Wiskott-Aldrich syndrome protein family member							107.0	103.0	105.0					6																	110423089		2203	4300	6503	SO:0001819	synonymous_variant	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110423089C>T	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1224G>A	6.37:g.110423089C>T						WASF1_uc003ptw.1_Silent_p.E408E|WASF1_uc003ptx.1_Silent_p.E408E|WASF1_uc003pty.1_Silent_p.E408E	p.E408E	NM_003931	NP_003922	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	10	2061	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	408					E1P5F2|Q5SZK7	Silent	SNP	ENST00000392589.1	37	c.1224G>A	CCDS5080.1																																																																																				0.577	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		13	44	0	0	0	0	13	44				
OLIG3	167826	broad.mit.edu	37	6	137815023	137815023	+	Silent	SNP	C	C	T	rs202061201		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:137815023C>T	ENST00000367734.2	-	1	508	c.285G>A	c.(283-285)cgG>cgA	p.R95R		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	95	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GGTCGTGCATCCGCTTGCGTT	0.607																																						uc003qhp.1		NA																	0					0						c.(283-285)CGG>CGA		oligodendrocyte transcription factor 3							134.0	100.0	112.0					6																	137815023		2203	4300	6503	SO:0001819	synonymous_variant	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815023C>T	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.285G>A	6.37:g.137815023C>T							p.R95R	NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	509	-	Breast(32;0.165)|Colorectal(23;0.24)		95			Basic motif.		Q8N8Q0	Silent	SNP	ENST00000367734.2	37	c.285G>A	CCDS5186.1																																																																																				0.607	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		36	58	0	0	0	0	36	58				
RAET1E	135250	broad.mit.edu	37	6	150210518	150210518	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:150210518G>A	ENST00000357183.4	-	3	720	c.588C>T	c.(586-588)ttC>ttT	p.F196F	RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000529948.1_Silent_p.F196F|RAET1E_ENST00000532335.1_Silent_p.F196F|RAET1E_ENST00000367363.3_Silent_p.F160F	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	196	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		AGTGCCCTAAGAATTCCCTGA	0.512																																						uc003qnl.1		NA																	0					0						c.(586-588)TTC>TTT		retinoic acid early transcript 1E precursor							105.0	102.0	103.0					6																	150210518		2203	4300	6503	SO:0001819	synonymous_variant	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150210518G>A	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.588C>T	6.37:g.150210518G>A						uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.F196F|RAET1E_uc003qnk.1_Silent_p.F160F|RAET1E_uc010kih.1_RNA	p.F196F	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	648	-		Ovarian(120;0.0907)	196			Extracellular (Potential).|MHC class I alpha-2 like.		A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Silent	SNP	ENST00000357183.4	37	c.588C>T	CCDS5221.1																																																																																				0.512	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		5	66	0	0	0	0	5	66				
RAET1E	135250	broad.mit.edu	37	6	150210686	150210686	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:150210686G>A	ENST00000357183.4	-	3	552	c.420C>T	c.(418-420)ttC>ttT	p.F140F	RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000529948.1_Silent_p.F140F|RAET1E_ENST00000532335.1_Silent_p.F140F|RAET1E_ENST00000367363.3_Silent_p.F104F	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	140	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CATTGGTGGCGAACTGCCAGG	0.468																																						uc003qnl.1		NA																	0					0						c.(418-420)TTC>TTT		retinoic acid early transcript 1E precursor							150.0	122.0	132.0					6																	150210686		2203	4300	6503	SO:0001819	synonymous_variant	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150210686G>A	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.420C>T	6.37:g.150210686G>A						uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.F140F|RAET1E_uc003qnk.1_Silent_p.F104F|RAET1E_uc010kih.1_RNA	p.F140F	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	480	-		Ovarian(120;0.0907)	140			Extracellular (Potential).|MHC class I alpha-2 like.		A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Silent	SNP	ENST00000357183.4	37	c.420C>T	CCDS5221.1																																																																																				0.468	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		5	75	0	0	0	0	5	75				
PSMG3	84262	broad.mit.edu	37	7	1608785	1608785	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:1608785G>C	ENST00000288607.2	-	1	844	c.191C>G	c.(190-192)aCa>aGa	p.T64R	PSMG3_ENST00000404674.3_Missense_Mutation_p.T64R|PSMG3_ENST00000252329.3_Missense_Mutation_p.T64R|PSMG3-AS1_ENST00000437621.2_lincRNA	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	64										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		AAGGACTTTTGTGGTGAGCAC	0.602																																						uc003skx.2		NA																	0					0						c.(190-192)ACA>AGA		proteasome assembling chaperone 3							72.0	71.0	71.0					7																	1608785		2201	4291	6492	SO:0001583	missense	84262							g.chr7:1608785G>C	BC027171	CCDS5327.1	7p22.3	2010-07-07	2007-08-16	2007-08-16	ENSG00000157778	ENSG00000157778			22420	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 48"""	C7orf48		17189198	Standard	NM_032302		Approved	MGC10911, PAC3	uc011jvx.1	Q9BT73	OTTHUMG00000119043	ENST00000288607.2:c.191C>G	7.37:g.1608785G>C	ENSP00000288607:p.Thr64Arg					PSMG3_uc011jvx.1_Missense_Mutation_p.T64R|KIAA1908_uc003sla.2_5'Flank|KIAA1908_uc003sky.1_5'Flank|KIAA1908_uc003skz.1_5'Flank	p.T64R	NM_032302	NP_115678	Q9BT73	PSMG3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)	1	845	-		Ovarian(82;0.11)	64					A4D216|A8MPW2	Missense_Mutation	SNP	ENST00000288607.2	37	c.191C>G	CCDS5327.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939763	0.52972	.	.	ENSG00000157778	ENST00000288607;ENST00000404674;ENST00000252329	.	.	.	5.43	4.54	0.55810	.	0.050625	0.85682	D	0.000000	T	0.79347	0.4430	M	0.81239	2.535	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.82259	-0.0546	9	0.72032	D	0.01	-25.8215	13.8865	0.63712	0.0739:0.0:0.9261:0.0	.	64	Q9BT73	PSMG3_HUMAN	R	64	.	ENSP00000252329:T64R	T	-	2	0	PSMG3	1575311	1.000000	0.71417	0.817000	0.32601	0.169000	0.22640	6.963000	0.76055	1.282000	0.44496	0.563000	0.77884	ACA		0.602	PSMG3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000239254.2	NM_032302		29	69	0	0	0	0	29	69				
THSD7A	221981	broad.mit.edu	37	7	11485796	11485796	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:11485796T>C	ENST00000423059.4	-	13	3207	c.2956A>G	c.(2956-2958)Aaa>Gaa	p.K986E	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	986	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTTGTACTTTCATTCCCAGC	0.433										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.(2956-2958)AAA>GAA		thrombospondin, type I, domain containing 7A							325.0	300.0	308.0					7																	11485796		1955	4151	6106	SO:0001583	missense	221981					integral to membrane		g.chr7:11485796T>C		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2956A>G	7.37:g.11485796T>C	ENSP00000406482:p.Lys986Glu	HNSCC(18;0.044)					p.K986E	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	13	3208	-			986			TSP type-1 10.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.2956A>G	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661809	0.67700	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59224	0.28	5.74	4.58	0.56647	.	0.127617	0.64402	D	0.000001	T	0.48352	0.1495	L	0.44542	1.39	0.48901	D	0.999729	B	0.33904	0.431	B	0.38264	0.269	T	0.32534	-0.9903	10	0.07325	T	0.83	.	12.285	0.54788	0.1271:0.0:0.0:0.8729	.	986	Q9UPZ6	THS7A_HUMAN	E	986	ENSP00000406482:K986E	ENSP00000262042:K986E	K	-	1	0	THSD7A	11452321	1.000000	0.71417	0.107000	0.21349	0.851000	0.48451	6.186000	0.72026	0.983000	0.38602	0.482000	0.46254	AAA		0.433	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		3	187	0	0	0	0	3	187				
ETV1	2115	broad.mit.edu	37	7	13975358	13975358	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:13975358C>A	ENST00000430479.1	-	8	1196	c.529G>T	c.(529-531)Gat>Tat	p.D177Y	ETV1_ENST00000405192.2_Missense_Mutation_p.D177Y|ETV1_ENST00000403685.1_Missense_Mutation_p.D159Y|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000420159.2_Missense_Mutation_p.D119Y|ETV1_ENST00000343495.5_Missense_Mutation_p.D159Y|ETV1_ENST00000403527.1_Missense_Mutation_p.D137Y|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405358.4_Missense_Mutation_p.D191Y|ETV1_ENST00000405218.2_Missense_Mutation_p.D177Y|ETV1_ENST00000242066.5_Missense_Mutation_p.D159Y	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	177					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TAGCTGCTATCTGGTATGGAC	0.478			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	uc011jxq.1		NA		Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3		Ewing sarcoma|prostate	TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	0				prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						c.(529-531)GAT>TAT		ets variant gene 1 isoform a							210.0	210.0	210.0					7																	13975358		2063	4208	6271	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13975358C>A		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.529G>T	7.37:g.13975358C>A	ENSP00000405327:p.Asp177Tyr					ETV1_uc011jxn.1_Missense_Mutation_p.D137Y|ETV1_uc011jxo.1_Intron|ETV1_uc011jxp.1_Missense_Mutation_p.D119Y|ETV1_uc003ssw.3_Missense_Mutation_p.D177Y|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.D159Y|ETV1_uc011jxs.1_Missense_Mutation_p.D159Y|ETV1_uc010ktv.2_Missense_Mutation_p.D46Y	p.D177Y	NM_004956	NP_004947	P50549	ETV1_HUMAN			8	1268	-			177					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.529G>T	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180127	0.78564	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956	T;T;T;T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82	5.83	4.96	0.65561	PEA3-type ETS-domain transcription factor, N-terminal (1);	1.201150	0.05886	N	0.627342	T	0.52948	0.1766	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.994;0.999;1.0;1.0;0.996;0.995	D;D;D;D;D;D;D	0.91635	0.983;0.935;0.989;0.997;0.999;0.945;0.974	T	0.04178	-1.0971	10	0.72032	D	0.01	.	14.8349	0.70175	0.0:0.9315:0.0:0.0685	.	188;159;191;119;137;119;177	Q59GA7;P50549-2;B5MCT2;F5GXR2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;ETV1_HUMAN	Y	177;159;159;119;177;191;137;177;159;119	ENSP00000405327:D177Y;ENSP00000242066:D159Y;ENSP00000340853:D159Y;ENSP00000411626:D119Y;ENSP00000385381:D177Y;ENSP00000384085:D191Y;ENSP00000384138:D137Y;ENSP00000385551:D177Y;ENSP00000385686:D159Y;ENSP00000393078:D119Y	ENSP00000242066:D159Y	D	-	1	0	ETV1	13941883	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	7.443000	0.80521	1.501000	0.48654	0.650000	0.86243	GAT		0.478	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		12	168	1	0	6.72e-11	9.29e-11	12	168				
HOXA11	3207	broad.mit.edu	37	7	27222479	27222479	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:27222479C>T	ENST00000006015.3	-	2	949	c.878G>A	c.(877-879)aGa>aAa	p.R293K	HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000522863.1_RNA|HOXA10_ENST00000396344.4_5'Flank|HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|RP1-170O19.20_ENST00000470747.4_5'Flank	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	293					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TTCCTTCATTCTCCTGTTCTG	0.453			T	NUP98	CML																																	uc003syx.2		NA		Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		0				lung(1)|breast(1)	2						c.(877-879)AGA>AAA		homeobox A11							84.0	86.0	85.0					7																	27222479		2203	4300	6503	SO:0001583	missense	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27222479C>T		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.878G>A	7.37:g.27222479C>T	ENSP00000006015:p.Arg293Lys					HOXA10_uc003syw.3_5'Flank|HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank	p.R293K	NM_005523	NP_005514	P31270	HXA11_HUMAN			2	950	-			293			Homeobox.		A4D190	Missense_Mutation	SNP	ENST00000006015.3	37	c.878G>A	CCDS5411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.301995|5.301995	0.95601|0.95601	.|.	.|.	ENSG00000005073|ENSG00000005073	ENST00000517402|ENST00000006015	.|D	.|0.98862	.|-5.19	5.69|5.69	5.69|5.69	0.88448|0.88448	.|Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99545|0.99545	0.9837|0.9837	H|H	0.98178|0.98178	4.165|4.165	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.76071	.|0.987	D|D	0.97974|0.97974	1.0345|1.0345	5|10	.|0.87932	.|D	.|0	.|.	19.819|19.819	0.96583|0.96583	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|293	.|P31270	.|HXA11_HUMAN	K|K	263|293	.|ENSP00000006015:R293K	.|ENSP00000006015:R293K	E|R	-|-	1|2	0|0	HOXA11|HOXA11	27189004|27189004	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	7.818000|7.818000	0.86416|0.86416	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.453	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			27	64	0	0	0	0	27	64				
ABCA13	154664	broad.mit.edu	37	7	48318519	48318519	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:48318519A>T	ENST00000435803.1	+	18	7752	c.7728A>T	c.(7726-7728)ttA>ttT	p.L2576F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2576					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L2576F(3)|p.L2521F(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGCTACTTTAAAAAAAATAG	0.313																																						uc003toq.2		NA																	5	Substitution - Missense(5)		prostate(5)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(7726-7728)TTA>TTT		ATP binding cassette, sub-family A (ABC1),							54.0	58.0	57.0					7																	48318519		1794	4039	5833	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318519A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7728A>T	7.37:g.48318519A>T	ENSP00000411096:p.Leu2576Phe					ABCA13_uc010kys.1_5'Flank	p.L2576F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	7753	+			2576					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7728A>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.948855	0.34377	.	.	ENSG00000179869	ENST00000435803	T	0.61742	0.08	4.93	-3.18	0.05186	.	1.145970	0.06770	N	0.783306	T	0.40297	0.1111	L	0.29908	0.895	0.09310	N	1	B	0.34290	0.447	B	0.34180	0.177	T	0.40924	-0.9537	10	0.87932	D	0	.	3.8626	0.09002	0.4195:0.0:0.314:0.2665	.	2576	Q86UQ4	ABCAD_HUMAN	F	2576	ENSP00000411096:L2576F	ENSP00000411096:L2576F	L	+	3	2	ABCA13	48289065	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.605000	0.05661	-0.329000	0.08527	-0.146000	0.13790	TTA		0.313	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		42	75	0	0	0	0	42	75				
IKZF1	10320	broad.mit.edu	37	7	50467665	50467665	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:50467665G>A	ENST00000331340.3	+	8	1055	c.900G>A	c.(898-900)gaG>gaA	p.E300E	IKZF1_ENST00000439701.1_Silent_p.E258E|IKZF1_ENST00000357364.4_Silent_p.E213E|IKZF1_ENST00000359197.5_Silent_p.E258E|IKZF1_ENST00000349824.4_Silent_p.E157E|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Silent_p.E213E|IKZF1_ENST00000438033.1_Silent_p.E213E|IKZF1_ENST00000346667.4_Silent_p.E70E	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	300					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCAGCTACGAGAAGGAGAACG	0.637			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	uc003tow.3		NA		"""Rec,Dom"""	yes		7	7p12.2	10320	D	IKAROS family zinc finger 1			L			ALL		28	Unknown(28)		haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(147)|lung(1)	148						c.(898-900)GAG>GAA		zinc finger protein, subfamily 1A, 1 (Ikaros)							34.0	35.0	34.0					7																	50467665		2133	4248	6381	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50467665G>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.900G>A	7.37:g.50467665G>A						IKZF1_uc003tox.3_Silent_p.E258E|IKZF1_uc003toy.3_Silent_p.E258E|IKZF1_uc011kck.1_Silent_p.E213E|IKZF1_uc003toz.3_Silent_p.E270E|IKZF1_uc010kyx.2_Silent_p.E40E|IKZF1_uc003tpa.3_Silent_p.E42E	p.E300E	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			9	1068	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	300					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.900G>A																																																																																					0.637	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		4	20	0	0	0	0	4	20				
ABCB1	5243	broad.mit.edu	37	7	87179526	87179526	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:87179526G>C	ENST00000265724.3	-	13	1728	c.1311C>G	c.(1309-1311)gtC>gtG	p.V437V	ABCB1_ENST00000543898.1_Silent_p.V373V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	437	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCATCAGCTGGACTGTTGTGC	0.557																																						uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1309-1311)GTC>GTG		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						113.0	80.0	91.0					7																	87179526		2203	4300	6503	SO:0001819	synonymous_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87179526G>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1311C>G	7.37:g.87179526G>C						ABCB1_uc011khc.1_Silent_p.V373V	p.V437V	NM_000927	NP_000918	P08183	MDR1_HUMAN			13	1729	-	Esophageal squamous(14;0.00164)		437			ABC transporter 1.|Cytoplasmic (Potential).		A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	c.1311C>G	CCDS5608.1																																																																																				0.557	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		3	48	0	0	0	0	3	48				
MCM7	4176	broad.mit.edu	37	7	99693502	99693502	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:99693502G>C	ENST00000303887.5	-	11	2135	c.1490C>G	c.(1489-1491)cCt>cGt	p.P497R	MIR93_ENST00000385024.1_RNA|MIR25_ENST00000384816.1_RNA|MCM7_ENST00000354230.3_Missense_Mutation_p.P321R|MIR106B_ENST00000385301.1_RNA|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	497	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTGCGGCGAGGGTTGTAGCG	0.622																																						uc003usw.1		NA																	0					0						c.(1489-1491)CCT>CGT		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						98.0	93.0	94.0					7																	99693502		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99693502G>C		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1490C>G	7.37:g.99693502G>C	ENSP00000307288:p.Pro497Arg					MCM7_uc003usv.1_Missense_Mutation_p.P321R|MCM7_uc003usx.1_Missense_Mutation_p.P321R|uc003usy.1_5'Flank|MIR25_hsa-mir-25|MI0000082_5'Flank|uc003usz.1_5'Flank|MIR93_hsa-mir-93|MI0000095_5'Flank|uc003uta.1_5'Flank|MIR106B_hsa-mir-106b|MI0000734_5'Flank	p.P497R	NM_005916	NP_005907	P33993	MCM7_HUMAN			11	2000	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		497			MCM.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.1490C>G	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841648	0.71488	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.06218	3.33;3.33	5.43	5.43	0.79202	ATPase, AAA+ type, core (1);	0.120012	0.64402	N	0.000020	T	0.20007	0.0481	L	0.51914	1.62	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.00028	-1.2298	10	0.46703	T	0.11	0.3854	16.7686	0.85531	0.0:0.0:1.0:0.0	.	497	P33993	MCM7_HUMAN	R	497;434;390;321	ENSP00000307288:P497R;ENSP00000346171:P321R	ENSP00000307288:P497R	P	-	2	0	MCM7	99531438	1.000000	0.71417	0.994000	0.49952	0.568000	0.35870	6.076000	0.71267	2.825000	0.97269	0.655000	0.94253	CCT		0.622	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			34	67	0	0	0	0	34	67				
NYAP1	222950	broad.mit.edu	37	7	100085946	100085946	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:100085946G>A	ENST00000300179.2	+	4	761	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	NYAP1_ENST00000454988.1_Missense_Mutation_p.R144Q|NYAP1_ENST00000423930.1_Missense_Mutation_p.R201Q	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	201					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AGGGGGTCCCGAGTAGCTGGG	0.632																																						uc003uvd.1		NA																	0				skin(1)	1						c.(601-603)CGA>CAA		hypothetical protein FLJ37538							40.0	47.0	45.0					7																	100085946		2203	4300	6503	SO:0001583	missense	222950							g.chr7:100085946G>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.602G>A	7.37:g.100085946G>A	ENSP00000300179:p.Arg201Gln					C7orf51_uc003uve.1_5'UTR	p.R201Q	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN			4	761	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		201					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.602G>A	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	2.919	-0.223544	0.06061	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.39592	1.07;1.07;1.07	5.03	3.22	0.36961	.	0.293162	0.23722	N	0.045201	T	0.17916	0.0430	N	0.22421	0.69	0.20638	N	0.999875	P	0.40476	0.718	B	0.27500	0.08	T	0.29822	-0.9999	10	0.02654	T	1	-1.3605	9.0316	0.36262	0.1381:0.0:0.8619:0.0	.	201	Q6ZVC0	CG051_HUMAN	Q	201;201;144	ENSP00000300179:R201Q;ENSP00000411861:R201Q;ENSP00000394424:R144Q	ENSP00000300179:R201Q	R	+	2	0	C7orf51	99923882	0.897000	0.30589	0.028000	0.17463	0.981000	0.71138	4.012000	0.57131	0.521000	0.28445	0.407000	0.27541	CGA		0.632	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		34	83	0	0	0	0	34	83				
ACTL6B	51412	broad.mit.edu	37	7	100253069	100253069	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:100253069G>A	ENST00000160382.5	-	3	349	c.243C>T	c.(241-243)gtC>gtT	p.V81V		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	81	Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting. {ECO:0000250}.				chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGGCGACATGACCTCCGCTC	0.612																																						uc003uvy.2		NA																	0				ovary(1)	1						c.(241-243)GTC>GTT		actin-like 6B							135.0	113.0	120.0					7																	100253069		2203	4300	6503	SO:0001819	synonymous_variant	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100253069G>A	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.243C>T	7.37:g.100253069G>A						ACTL6B_uc003uvz.2_RNA|uc003uwa.1_5'Flank	p.V81V	NM_016188	NP_057272	O94805	ACL6B_HUMAN			3	350	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		81			Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting (By similarity).		A4D2D0|O75421	Silent	SNP	ENST00000160382.5	37	c.243C>T	CCDS5702.1																																																																																				0.612	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		29	74	0	0	0	0	29	74				
CUL1	8454	broad.mit.edu	37	7	148427271	148427271	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:148427271G>A	ENST00000325222.4	+	2	336	c.57G>A	c.(55-57)caG>caA	p.Q19Q	CUL1_ENST00000602748.1_Silent_p.Q19Q|AC005229.1_ENST00000578165.1_RNA|CUL1_ENST00000409469.1_Silent_p.Q19Q	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCCTGGACCAGATCTGGGACG	0.562																																						uc010lpg.2		NA																	0				lung(1)	1						c.(55-57)CAG>CAA		cullin 1							107.0	97.0	100.0					7																	148427271		2203	4300	6503	SO:0001819	synonymous_variant	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148427271G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.57G>A	7.37:g.148427271G>A						CUL1_uc003wey.2_Silent_p.Q19Q|CUL1_uc003wez.2_5'UTR	p.Q19Q	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		2	583	+	Melanoma(164;0.15)		19					D3DWG3|O60719|Q08AL6|Q8IYW1	Silent	SNP	ENST00000325222.4	37	c.57G>A	CCDS34772.1																																																																																				0.562	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		23	59	0	0	0	0	23	59				
CUL1	8454	broad.mit.edu	37	7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000602748.1_Missense_Mutation_p.E485K|CUL1_ENST00000409469.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.E485K(4)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.458																																						uc010lpg.2		NA																	4	Substitution - Missense(4)		urinary_tract(2)|lung(1)|central_nervous_system(1)	lung(1)	1						c.(1453-1455)GAA>AAA		cullin 1							80.0	73.0	76.0					7																	148484186		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148484186G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1453G>A	7.37:g.148484186G>A	ENSP00000326804:p.Glu485Lys					CUL1_uc003wey.2_Missense_Mutation_p.E485K|CUL1_uc003wez.2_Missense_Mutation_p.E375K|CUL1_uc003wfa.2_Missense_Mutation_p.E146K	p.E485K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		13	1979	+	Melanoma(164;0.15)		485					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.1453G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288263	0.95517	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	D;D	0.86865	-2.18;-2.18	5.5	5.5	0.81552	Cullin, N-terminal (1);Cullin homology (3);	0.047140	0.85682	D	0.000000	D	0.95847	0.8648	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.96814	0.9599	10	0.87932	D	0	-0.8542	19.4118	0.94677	0.0:0.0:1.0:0.0	.	412;485	E7EWR0;Q13616	.;CUL1_HUMAN	K	485;485;443;412	ENSP00000387160:E485K;ENSP00000326804:E485K	ENSP00000326804:E485K	E	+	1	0	CUL1	148115119	1.000000	0.71417	0.913000	0.36048	0.576000	0.36127	9.497000	0.97970	2.595000	0.87683	0.655000	0.94253	GAA		0.458	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		66	17	0	0	0	0	66	17				
PRKAG2	51422	broad.mit.edu	37	7	151262822	151262822	+	Silent	SNP	A	A	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:151262822A>T	ENST00000287878.4	-	12	1887	c.1383T>A	c.(1381-1383)ccT>ccA	p.P461P	PRKAG2_ENST00000492843.1_Silent_p.P337P|PRKAG2_ENST00000418337.2_Silent_p.P220P|PRKAG2_ENST00000392801.2_Silent_p.P417P|PRKAG2_ENST00000433631.2_Silent_p.P336P	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	461	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	CATCCACAACAGGCAGAGCTG	0.433																																						uc003wkk.2		NA																	0				breast(1)|kidney(1)	2						c.(1381-1383)CCT>CCA		AMP-activated protein kinase gamma2 subunit							216.0	183.0	194.0					7																	151262822		2203	4300	6503	SO:0001819	synonymous_variant	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151262822A>T	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1383T>A	7.37:g.151262822A>T						PRKAG2_uc003wki.2_Silent_p.P220P|PRKAG2_uc011kvl.1_Silent_p.P336P|PRKAG2_uc003wkj.2_Silent_p.P417P|PRKAG2_uc003wkl.2_Intron	p.P461P	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	12	1994	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	461			CBS 3.		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Silent	SNP	ENST00000287878.4	37	c.1383T>A	CCDS5928.1																																																																																				0.433	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		24	73	0	0	0	0	24	73				
WDR60	55112	broad.mit.edu	37	7	158679719	158679719	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:158679719G>C	ENST00000407559.3	+	7	1101	c.943G>C	c.(943-945)Gag>Cag	p.E315Q		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	315					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CAGGCATGCTGAGAATTTAGT	0.313																																						uc003woe.3		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(943-945)GAG>CAG		WD repeat domain 60							100.0	93.0	95.0					7																	158679719		1842	4094	5936	SO:0001583	missense	55112							g.chr7:158679719G>C		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.943G>C	7.37:g.158679719G>C	ENSP00000384290:p.Glu315Gln					WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_5'UTR	p.E315Q	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	7	1101	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	315					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.943G>C	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	7.102	0.574244	0.13623	.	.	ENSG00000126870	ENST00000407559	T	0.27402	1.67	4.27	3.31	0.37934	.	0.507607	0.16408	N	0.215711	T	0.19366	0.0465	L	0.29908	0.895	0.23016	N	0.998427	B	0.30281	0.275	B	0.20767	0.031	T	0.10019	-1.0648	10	0.39692	T	0.17	.	9.206	0.37289	0.0:0.2224:0.7776:0.0	.	315	Q8WVS4	WDR60_HUMAN	Q	315	ENSP00000384290:E315Q	ENSP00000384290:E315Q	E	+	1	0	WDR60	158372480	0.924000	0.31332	0.384000	0.26145	0.081000	0.17604	1.892000	0.39748	1.929000	0.55896	0.650000	0.86243	GAG		0.313	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		34	13	0	0	0	0	34	13				
NEIL2	252969	broad.mit.edu	37	8	11637314	11637314	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:11637314G>C	ENST00000284503.6	+	3	945	c.346G>C	c.(346-348)Gag>Cag	p.E116Q	NEIL2_ENST00000455213.2_Missense_Mutation_p.E116Q|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_Missense_Mutation_p.E55Q|NEIL2_ENST00000436750.3_Missense_Mutation_p.E116Q	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	116					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GGATGATTCTGAGTATTTGGA	0.602								Base excision repair (BER), DNA glycosylases																														uc003wug.2		NA																	0					0						c.(346-348)GAG>CAG	BER_DNA_glycosylases	nei like 2 isoform a							74.0	75.0	75.0					8																	11637314		2203	4300	6503	SO:0001583	missense	252969				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	g.chr8:11637314G>C	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"""nei like 2 (E. coli)"""			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.346G>C	8.37:g.11637314G>C	ENSP00000284503:p.Glu116Gln					NEIL2_uc003wue.2_Missense_Mutation_p.E116Q|NEIL2_uc003wuf.2_Missense_Mutation_p.E55Q|NEIL2_uc011kxd.1_Intron	p.E116Q	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	3	1021	+	all_epithelial(15;0.103)		116					B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Missense_Mutation	SNP	ENST00000284503.6	37	c.346G>C	CCDS5984.1	.	.	.	.	.	.	.	.	.	.	G	9.540	1.113240	0.20795	.	.	ENSG00000154328	ENST00000530433;ENST00000455213;ENST00000403422;ENST00000436750;ENST00000284503;ENST00000382309	T;T;T;T	0.05447	3.44;3.46;3.44;3.44	5.28	-8.27	0.01017	DNA glycosylase/AP lyase, catalytic domain (2);	1.853870	0.02562	N	0.096850	T	0.03915	0.0110	N	0.25890	0.77	0.09310	N	1	B	0.17667	0.023	B	0.17979	0.02	T	0.36138	-0.9760	10	0.49607	T	0.09	-22.6369	1.6071	0.02686	0.3025:0.3324:0.1982:0.1668	.	116	Q969S2	NEIL2_HUMAN	Q	116;116;55;116;116;101	ENSP00000397538:E116Q;ENSP00000384070:E55Q;ENSP00000394023:E116Q;ENSP00000284503:E116Q	ENSP00000284503:E116Q	E	+	1	0	NEIL2	11674723	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.873000	0.04214	-1.485000	0.01854	-0.264000	0.10439	GAG		0.602	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		31	48	0	0	0	0	31	48				
TEX15	56154	broad.mit.edu	37	8	30699749	30699749	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:30699749C>T	ENST00000256246.2	-	1	6859	c.6785G>A	c.(6784-6786)aGa>aAa	p.R2262K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2262					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATCTTCCTTCTGTTATACAG	0.303																																						uc003xil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(6784-6786)AGA>AAA		testis expressed 15							70.0	66.0	67.0					8																	30699749		2203	4299	6502	SO:0001583	missense	56154							g.chr8:30699749C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6785G>A	8.37:g.30699749C>T	ENSP00000256246:p.Arg2262Lys						p.R2262K	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	6785	-			2262						Missense_Mutation	SNP	ENST00000256246.2	37	c.6785G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.336704	0.00224	.	.	ENSG00000133863	ENST00000256246	T	0.09445	2.98	5.63	1.55	0.23275	.	0.507229	0.19693	N	0.108208	T	0.08223	0.0205	L	0.38175	1.15	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.25537	-1.0129	10	0.87932	D	0	.	6.0971	0.20027	0.0:0.5442:0.1421:0.3136	.	2262	Q9BXT5	TEX15_HUMAN	K	2262	ENSP00000256246:R2262K	ENSP00000256246:R2262K	R	-	2	0	TEX15	30819291	0.002000	0.14202	0.072000	0.20136	0.013000	0.08279	-0.040000	0.12104	0.715000	0.32103	0.563000	0.77884	AGA		0.303	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			23	52	0	0	0	0	23	52				
GPR124	25960	broad.mit.edu	37	8	37696479	37696479	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:37696479G>C	ENST00000412232.2	+	15	2278	c.2265G>C	c.(2263-2265)ctG>ctC	p.L755L	GPR124_ENST00000315215.7_Silent_p.L538L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	755	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCAGGAGCTGAGCGCCTTTC	0.677																																						uc003xkj.2		NA																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(2263-2265)CTG>CTC		G protein-coupled receptor 124 precursor							35.0	38.0	37.0					8																	37696479		2203	4300	6503	SO:0001819	synonymous_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37696479G>C	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2265G>C	8.37:g.37696479G>C						GPR124_uc010lvy.2_Silent_p.L538L	p.L755L	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		15	2628	+			755			GPS.|Extracellular (Potential).		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.2265G>C	CCDS6097.2																																																																																				0.677	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			14	57	0	0	0	0	14	57				
DNAJC5B	85479	broad.mit.edu	37	8	66992626	66992626	+	Silent	SNP	C	C	T	rs377233329		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:66992626C>T	ENST00000276570.5	+	5	635	c.348C>T	c.(346-348)atC>atT	p.I116I	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	116						membrane (GO:0016020)		p.I116I(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TGTTTGTCATCGTTGGCCTCT	0.557																																						uc003xvs.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(346-348)ATC>ATT		DnaJ (Hsp40) homolog, subfamily C, member 5		C		1,4405	2.1+/-5.4	0,1,2202	139.0	131.0	134.0		348	5.1	1.0	8		134	0,8600		0,0,4300	no	coding-synonymous	DNAJC5B	NM_033105.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		116/200	66992626	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:66992626C>T	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.348C>T	8.37:g.66992626C>T						DNAJC5B_uc003xvt.1_RNA	p.I116I	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		5	639	+		Lung NSC(129;0.114)|all_lung(136;0.188)	116					Q969Y8	Silent	SNP	ENST00000276570.5	37	c.348C>T	CCDS6183.1																																																																																				0.557	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105		24	58	0	0	0	0	24	58				
CNGB3	54714	broad.mit.edu	37	8	87623893	87623893	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:87623893C>G	ENST00000320005.5	-	14	1632	c.1585G>C	c.(1585-1587)Gat>Cat	p.D529H		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	529					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATCTGTGTATCACAACCCTAT	0.294																																						uc003ydx.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1585-1587)GAT>CAT		cyclic nucleotide gated channel beta 3							88.0	86.0	86.0					8																	87623893		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87623893C>G	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1585G>C	8.37:g.87623893C>G	ENSP00000316605:p.Asp529His					CNGB3_uc010maj.2_Missense_Mutation_p.D391H	p.D529H	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			14	1631	-			529			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1585G>C	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506964	0.85282	.	.	ENSG00000170289	ENST00000320005	D	0.97138	-4.26	5.35	5.35	0.76521	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98720	0.9570	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.99601	1.0978	10	0.87932	D	0	.	19.4224	0.94727	0.0:1.0:0.0:0.0	.	529;529	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	H	529	ENSP00000316605:D529H	ENSP00000316605:D529H	D	-	1	0	CNGB3	87693009	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	7.438000	0.80431	2.656000	0.90262	0.655000	0.94253	GAT		0.294	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		10	34	0	0	0	0	10	34				
NECAB1	64168	broad.mit.edu	37	8	91940500	91940500	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:91940500G>A	ENST00000417640.2	+	8	1003	c.666G>A	c.(664-666)caG>caA	p.Q222Q		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	222						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			ATAGACTCCAGAAATTAATTG	0.383																																						uc011lgg.1		NA																	0				central_nervous_system(1)	1						c.(664-666)CAG>CAA		N-terminal EF-hand calcium binding protein 1							107.0	104.0	105.0					8																	91940500		1812	4078	5890	SO:0001819	synonymous_variant	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91940500G>A	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.666G>A	8.37:g.91940500G>A							p.Q222Q	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		8	860	+			222			Potential.		Q6NUS7|Q96AZ7|Q9HBW8	Silent	SNP	ENST00000417640.2	37	c.666G>A	CCDS47889.1																																																																																				0.383	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		32	52	0	0	0	0	32	52				
NECAB1	64168	broad.mit.edu	37	8	91940510	91940510	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:91940510G>C	ENST00000417640.2	+	8	1013	c.676G>C	c.(676-678)Gat>Cat	p.D226H		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	226						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GAAATTAATTGATAGACTGGA	0.383																																						uc011lgg.1		NA																	0				central_nervous_system(1)	1						c.(676-678)GAT>CAT		N-terminal EF-hand calcium binding protein 1							105.0	102.0	103.0					8																	91940510		1814	4080	5894	SO:0001583	missense	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91940510G>C	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.676G>C	8.37:g.91940510G>C	ENSP00000387380:p.Asp226His						p.D226H	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		8	870	+			226			Potential.		Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	ENST00000417640.2	37	c.676G>C	CCDS47889.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056609	0.76074	.	.	ENSG00000123119	ENST00000417640	T	0.24538	1.85	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.57004	-0.7885	10	0.66056	D	0.02	-21.326	18.6112	0.91285	0.0:0.0:1.0:0.0	.	226	Q8N987	NECA1_HUMAN	H	226	ENSP00000387380:D226H	ENSP00000387380:D226H	D	+	1	0	NECAB1	92009686	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.722000	0.84778	2.568000	0.86640	0.655000	0.94253	GAT		0.383	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		29	51	0	0	0	0	29	51				
MATN2	4147	broad.mit.edu	37	8	98943558	98943558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:98943558C>T	ENST00000520016.1	+	2	644	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	MATN2_ENST00000521689.1_Nonsense_Mutation_p.Q174*|MATN2_ENST00000254898.5_Nonsense_Mutation_p.Q174*|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Nonsense_Mutation_p.Q174*			O00339	MATN2_HUMAN	matrilin 2	174	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGGGAGACCTCAGGACTCCGT	0.577																																						uc003yic.2		NA																	0				ovary(2)	2						c.(520-522)CAG>TAG		matrilin 2 isoform a precursor							38.0	44.0	42.0					8																	98943558		2125	4243	6368	SO:0001587	stop_gained	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943558C>T	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.520C>T	8.37:g.98943558C>T	ENSP00000430487:p.Gln174*					MATN2_uc003yib.1_Nonsense_Mutation_p.Q174*|MATN2_uc010mbh.1_Nonsense_Mutation_p.Q174*|MATN2_uc003yid.2_Nonsense_Mutation_p.Q174*|MATN2_uc003yie.1_Nonsense_Mutation_p.Q174*|MATN2_uc010mbi.1_Nonsense_Mutation_p.Q48*	p.Q174*	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	751	+	Breast(36;1.43e-06)		174			VWFA 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Nonsense_Mutation	SNP	ENST00000520016.1	37	c.520C>T	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	42	9.337322	0.99142	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	.	.	.	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-25.2439	20.1001	0.97870	0.0:1.0:0.0:0.0	.	.	.	.	X	174	.	ENSP00000254898:Q174X	Q	+	1	0	MATN2	99012734	1.000000	0.71417	0.965000	0.40720	0.647000	0.38526	7.770000	0.85390	2.760000	0.94817	0.655000	0.94253	CAG		0.577	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			5	39	0	0	0	0	5	39				
RGS22	26166	broad.mit.edu	37	8	101016160	101016160	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:101016160G>A	ENST00000360863.6	-	17	2815	c.2621C>T	c.(2620-2622)tCt>tTt	p.S874F	RGS22_ENST00000523287.1_Missense_Mutation_p.S693F|RGS22_ENST00000523437.1_Missense_Mutation_p.S862F|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000519421.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	874	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCACCTTGAAGAATGAGTCTC	0.328																																						uc003yjb.1		NA																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(2620-2622)TCT>TTT		regulator of G-protein signaling 22							121.0	110.0	114.0					8																	101016160		1837	4087	5924	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101016160G>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2621C>T	8.37:g.101016160G>A	ENSP00000354109:p.Ser874Phe					RGS22_uc003yja.1_Missense_Mutation_p.S693F|RGS22_uc003yjc.1_Missense_Mutation_p.S862F|RGS22_uc011lgz.1_RNA	p.S874F	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		17	2816	-			874			RGS 1.		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.2621C>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564972	0.27915	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.01787	4.64;4.64;4.64;4.64	5.22	4.33	0.51752	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.349959	0.27768	N	0.017938	T	0.04048	0.0113	L	0.37561	1.115	0.33490	D	0.588549	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.998;0.994	T	0.43605	-0.9381	10	0.09843	T	0.71	.	7.6541	0.28365	0.0829:0.0:0.7521:0.165	.	862;874;693	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	F	874;862;693;862;189	ENSP00000354109:S874F;ENSP00000429382:S693F;ENSP00000428212:S862F;ENSP00000427754:S189F	ENSP00000354109:S874F	S	-	2	0	RGS22	101085336	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	1.637000	0.37155	1.169000	0.42739	0.655000	0.94253	TCT		0.328	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		14	29	0	0	0	0	14	29				
AZIN1	51582	broad.mit.edu	37	8	103848575	103848575	+	Missense_Mutation	SNP	C	C	T	rs142265787		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:103848575C>T	ENST00000337198.5	-	6	1656	c.493G>A	c.(493-495)Gag>Aag	p.E165K	AZIN1_ENST00000522311.1_5'UTR|AZIN1_ENST00000347770.4_Missense_Mutation_p.E165K	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	165					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			ATGTTACCCTCTTCACCTCCA	0.413																																						uc003ykx.2		NA																	0					0						c.(493-495)GAG>AAG		ornithine decarboxylase antizyme inhibitor		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	212.0	192.0	199.0		493,493	6.1	1.0	8	dbSNP_134	199	0,8600		0,0,4300	no	missense,missense	AZIN1	NM_015878.4,NM_148174.2	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	165/449,165/449	103848575	1,13005	2203	4300	6503	SO:0001583	missense	51582				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding	g.chr8:103848575C>T	AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"""ornithine decarboxylase 1-like"""	607909	"""ornithine decarboxylase antizyme inhibitor"""	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.493G>A	8.37:g.103848575C>T	ENSP00000337180:p.Glu165Lys					AZIN1_uc003yky.2_Missense_Mutation_p.E165K	p.E165K	NM_015878	NP_056962	O14977	AZIN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)		7	1235	-	Lung NSC(17;0.000143)|all_lung(17;0.000294)		165					A6NCD5|Q6IBQ7|Q96D20	Missense_Mutation	SNP	ENST00000337198.5	37	c.493G>A	CCDS6295.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324454	0.81580	2.27E-4	0.0	ENSG00000155096	ENST00000337198;ENST00000347770	T;T	0.41400	1.0;1.0	6.08	6.08	0.98989	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.242271	0.48286	D	0.000184	T	0.37489	0.1005	L	0.38175	1.15	0.58432	D	0.999999	B	0.12013	0.005	B	0.25759	0.063	T	0.23476	-1.0187	10	0.09084	T	0.74	-7.9373	20.6721	0.99693	0.0:1.0:0.0:0.0	.	165	O14977	AZIN1_HUMAN	K	165	ENSP00000337180:E165K;ENSP00000321507:E165K	ENSP00000337180:E165K	E	-	1	0	AZIN1	103917751	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.974000	0.70465	2.894000	0.99253	0.591000	0.81541	GAG		0.413	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380133.1			31	69	0	0	0	0	31	69				
TG	7038	broad.mit.edu	37	8	133898883	133898883	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:133898883C>G	ENST00000220616.4	+	9	1306	c.1266C>G	c.(1264-1266)ctC>ctG	p.L422L	TG_ENST00000377869.1_Silent_p.L422L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	422					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGGGCTTCTCCGCCCAATGG	0.537																																						uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(1264-1266)CTC>CTG		thyroglobulin precursor							118.0	125.0	123.0					8																	133898883		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133898883C>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1266C>G	8.37:g.133898883C>G							p.L422L	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	1307	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	422					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.1266C>G	CCDS34944.1																																																																																				0.537	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		8	228	0	0	0	0	8	228				
EPPK1	83481	broad.mit.edu	37	8	144943655	144943655	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:144943655G>A	ENST00000525985.1	-	2	3838	c.3767C>T	c.(3766-3768)tCt>tTt	p.S1256F				P58107	EPIPL_HUMAN	epiplakin 1	1256						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTGGCCCCAGAGGGCTGTAG	0.716																																						uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(3766-3768)TCT>TTT		epiplakin 1							10.0	11.0	11.0					8																	144943655		1978	4112	6090	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144943655G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3767C>T	8.37:g.144943655G>A	ENSP00000436337:p.Ser1256Phe						p.S1256F	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	3780	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1256			Plectin 21.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.3767C>T		.	.	.	.	.	.	.	.	.	.	G	11.52	1.663147	0.29515	.	.	ENSG00000227184	ENST00000525985	T	0.70986	-0.53	4.5	4.5	0.54988	.	.	.	.	.	T	0.79341	0.4429	L	0.52905	1.665	0.09310	N	1	D	0.76494	0.999	D	0.65573	0.936	T	0.69510	-0.5126	9	0.72032	D	0.01	.	12.5581	0.56265	0.0:0.0:1.0:0.0	.	1256	E9PPU0	.	F	1256	ENSP00000436337:S1256F	ENSP00000436337:S1256F	S	-	2	0	EPPK1	145015643	0.998000	0.40836	0.490000	0.27465	0.076000	0.17211	3.458000	0.53014	2.329000	0.79093	0.462000	0.41574	TCT		0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		10	12	0	0	0	0	10	12				
PLEC	5339	broad.mit.edu	37	8	144990624	144990624	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:144990624C>T	ENST00000322810.4	-	32	13945	c.13776G>A	c.(13774-13776)gtG>gtA	p.V4592V	PLEC_ENST00000436759.2_Silent_p.V4482V|PLEC_ENST00000345136.3_Silent_p.V4455V|PLEC_ENST00000354589.3_Silent_p.V4455V|PLEC_ENST00000398774.2_Silent_p.V4423V|PLEC_ENST00000527096.1_Silent_p.V4478V|PLEC_ENST00000356346.3_Silent_p.V4441V|PLEC_ENST00000354958.2_Silent_p.V4433V|PLEC_ENST00000357649.2_Silent_p.V4459V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4592	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCCCTCCTCCACCATGCTGC	0.647																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(13774-13776)GTG>GTA		plectin isoform 1							71.0	77.0	75.0					8																	144990624		2043	4190	6233	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144990624C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13776G>A	8.37:g.144990624C>T						PLEC_uc003zab.1_Silent_p.V4455V|PLEC_uc003zac.1_Silent_p.V4459V|PLEC_uc003zad.2_Silent_p.V4455V|PLEC_uc003zae.1_Silent_p.V4423V|PLEC_uc003zag.1_Silent_p.V4433V|PLEC_uc003zah.2_Silent_p.V4441V|PLEC_uc003zaj.2_Silent_p.V4482V	p.V4592V	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	13946	-			4592			Globular 2.|Plectin 33.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.13776G>A	CCDS43772.1																																																																																				0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	148	0	0	0	0	5	148				
IFNA17	3451	broad.mit.edu	37	9	21227646	21227646	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:21227646G>C	ENST00000413767.2	-	1	575	c.527C>G	c.(526-528)tCt>tGt	p.S176C		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	176					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGTTGAAAAAGAGAGAGATCT	0.373																																						uc003zos.1		NA																	0					0						c.(526-528)TCT>TGT		interferon, alpha 17 precursor							147.0	183.0	171.0					9																	21227646		2190	4297	6487	SO:0001583	missense	3451				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21227646G>C		CCDS6500.1	9p22	2010-12-10			ENSG00000234829	ENSG00000234829		"""Interferons"""	5422	protein-coding gene	gene with protein product		147583				1385305	Standard	NM_021268		Approved	LEIF2C1, IFN-alphaI	uc003zos.1	P01571	OTTHUMG00000019667	ENST00000413767.2:c.527C>G	9.37:g.21227646G>C	ENSP00000411940:p.Ser176Cys					IFNA14_uc003zoo.1_Intron	p.S176C	NM_021268	NP_067091	P01571	IFN17_HUMAN		Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	576	-			176					Q14639|Q4KMT4|Q5VZ53|Q7M4Q4	Missense_Mutation	SNP	ENST00000413767.2	37	c.527C>G	CCDS6500.1	.	.	.	.	.	.	.	.	.	.	-	10.68	1.419112	0.25552	.	.	ENSG00000234829	ENST00000413767	T	0.06371	3.31	2.87	-0.717	0.11208	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.596311	0.16348	N	0.218374	T	0.17959	0.0431	M	0.93638	3.44	0.09310	N	1	B	0.28208	0.203	B	0.43658	0.426	T	0.37454	-0.9705	10	0.72032	D	0.01	.	2.4039	0.04408	0.1243:0.184:0.5049:0.1868	.	176	P01571	IFN17_HUMAN	C	176	ENSP00000411940:S176C	ENSP00000411940:S176C	S	-	2	0	IFNA17	21217646	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.219000	0.09228	0.066000	0.16515	0.423000	0.28283	TCT		0.373	IFNA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051896.1	NM_021268		78	278	0	0	0	0	78	278				
KIF24	347240	broad.mit.edu	37	9	34256601	34256601	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:34256601C>T	ENST00000402558.2	-	10	3028	c.3004G>A	c.(3004-3006)Gac>Aac	p.D1002N	KIF24_ENST00000379166.2_Missense_Mutation_p.D1002N|KIF24_ENST00000345050.2_Missense_Mutation_p.D868N|KIF24_ENST00000379174.3_Missense_Mutation_p.D868N			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1002					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GTGACTGTGTCTCTTTGGTCT	0.537																																						uc003zua.3		NA																	0				central_nervous_system(1)	1						c.(3004-3006)GAC>AAC		kinesin family member 24							153.0	136.0	142.0					9																	34256601		2203	4300	6503	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34256601C>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3004G>A	9.37:g.34256601C>T	ENSP00000384433:p.Asp1002Asn					KIF24_uc010mkb.2_Intron	p.D1002N	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	3124	-			1002					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.3004G>A	CCDS6551.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.50|10.50	1.366269|1.366269	0.24684|0.24684	.|.	.|.	ENSG00000186638|ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188|ENST00000443226	T;T;T;T|.	0.71698|.	-0.37;-0.59;-0.37;-0.59|.	5.51|5.51	3.66|3.66	0.41972|0.41972	.|.	0.602216|.	0.14924|.	N|.	0.290493|.	T|T	0.38081|0.38081	0.1027|0.1027	L|L	0.38531|0.38531	1.155|1.155	0.09310|0.09310	N|N	0.999998|0.999998	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|T	0.21449|0.21449	-1.0245|-1.0245	10|6	0.32370|0.42905	T|T	0.25|0.14	.|.	9.3664|9.3664	0.38228|0.38228	0.0:0.7691:0.1529:0.078|0.0:0.7691:0.1529:0.078	.|.	1002|.	Q5T7B8|.	KIF24_HUMAN|.	N|K	1002;868;1002;868;1002|47	ENSP00000384433:D1002N;ENSP00000368472:D868N;ENSP00000368464:D1002N;ENSP00000340179:D868N|.	ENSP00000340179:D868N|ENSP00000414628:R47K	D|R	-|-	1|2	0|0	KIF24|KIF24	34246601|34246601	0.248000|0.248000	0.23930|0.23930	0.636000|0.636000	0.29352|0.29352	0.384000|0.384000	0.30261|0.30261	0.195000|0.195000	0.17155|0.17155	0.690000|0.690000	0.31570|0.31570	0.563000|0.563000	0.77884|0.77884	GAC|AGA		0.537	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			56	81	0	0	0	0	56	81				
SIGMAR1	10280	broad.mit.edu	37	9	34635731	34635731	+	Silent	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:34635731G>T	ENST00000277010.4	-	4	643	c.570C>A	c.(568-570)gtC>gtA	p.V190V	SIGMAR1_ENST00000477726.1_Silent_p.V159V|SIGMAR1_ENST00000378892.1_Silent_p.V101V|SIGMAR1_ENST00000461426.1_5'UTR	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	190					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	GGGTGCTGAAGACAGTGTCGG	0.617																																						uc003zvb.2		NA																	0					0						c.(568-570)GTC>GTA		sigma non-opioid intracellular receptor 1	Dextromethorphan(DB00514)						125.0	108.0	114.0					9																	34635731		2203	4300	6503	SO:0001819	synonymous_variant	10280				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding	g.chr9:34635731G>T	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"""opioid receptor, sigma 1"""	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.570C>A	9.37:g.34635731G>T						SIGMAR1_uc003zva.3_Silent_p.V170V|SIGMAR1_uc003zuz.2_Silent_p.V101V|SIGMAR1_uc003zvc.2_Silent_p.V159V|SIGMAR1_uc003zvd.2_RNA|SIGMAR1_uc011loo.1_Intron	p.V190V	NM_005866	NP_005857	Q99720	SGMR1_HUMAN			4	644	-			190			Cytoplasmic (Potential).		D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Silent	SNP	ENST00000277010.4	37	c.570C>A	CCDS6562.1																																																																																				0.617	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	NM_005866		14	55	1	0	0.000151284	0.000202468	14	55				
FRMPD1	22844	broad.mit.edu	37	9	37740340	37740340	+	Silent	SNP	G	G	C	rs562813917		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:37740340G>C	ENST00000539465.1	+	15	2408	c.1815G>C	c.(1813-1815)tcG>tcC	p.S605S	FRMPD1_ENST00000536622.1_Silent_p.S427S|FRMPD1_ENST00000541302.1_Silent_p.S474S|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.S605S			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	605						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCAGTGGCTCGAGTGAGTCCA	0.637																																						uc004aag.1		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(1813-1815)TCG>TCC		FERM and PDZ domain containing 1																																				SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740340G>C	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1815G>C	9.37:g.37740340G>C						FRMPD1_uc004aah.1_Silent_p.S605S|FRMPD1_uc011lqm.1_Silent_p.S427S|FRMPD1_uc011lqn.1_Silent_p.S474S	p.S605S	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	1859	+			605					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.1815G>C	CCDS6612.1																																																																																				0.637	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		22	25	0	0	0	0	22	25				
IARS	3376	broad.mit.edu	37	9	95036734	95036734	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:95036734C>G	ENST00000375643.3	-	10	1230	c.964G>C	c.(964-966)Gtc>Ctc	p.V322L	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.V322L|IARS_ENST00000447699.2_Missense_Mutation_p.V212L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	322					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GCTTGGTGGACAACCCCTGTG	0.473																																						uc004art.1		NA																	0				ovary(1)|skin(1)	2						c.(964-966)GTC>CTC		isoleucine tRNA synthetase	L-Isoleucine(DB00167)						129.0	109.0	116.0					9																	95036734		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95036734C>G	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.964G>C	9.37:g.95036734C>G	ENSP00000364794:p.Val322Leu					IARS_uc004ars.1_Missense_Mutation_p.V167L|IARS_uc004aru.3_Missense_Mutation_p.V322L|IARS_uc010mqr.2_Missense_Mutation_p.V212L|IARS_uc010mqt.2_Intron	p.V322L	NM_013417	NP_038203	P41252	SYIC_HUMAN			10	1221	-			322					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.964G>C	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	34	5.314994	0.95655	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000395554	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.51	5.51	0.81932	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	D	0.96956	0.9006	H	0.99609	4.655	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.97110	0.962;1.0	D	0.98855	1.0760	10	0.87932	D	0	-17.4542	18.1985	0.89830	0.0:1.0:0.0:0.0	.	322;167	P41252;Q6P0M4	SYIC_HUMAN;.	L	322;322;212;322;322	ENSP00000364794:V322L;ENSP00000406448:V322L;ENSP00000415020:V212L;ENSP00000378922:V322L	ENSP00000364794:V322L	V	-	1	0	IARS	94076555	1.000000	0.71417	0.878000	0.34440	0.996000	0.88848	7.201000	0.77847	2.603000	0.88011	0.655000	0.94253	GTC		0.473	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		3	129	0	0	0	0	3	129				
SMC2	10592	broad.mit.edu	37	9	106864358	106864358	+	Missense_Mutation	SNP	G	G	C	rs560803104		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:106864358G>C	ENST00000286398.7	+	8	1042	c.754G>C	c.(754-756)Gaa>Caa	p.E252Q	SMC2_ENST00000303219.8_Missense_Mutation_p.E252Q|SMC2_ENST00000374793.3_Missense_Mutation_p.E252Q|SMC2_ENST00000374787.3_Missense_Mutation_p.E252Q	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	252					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CTCAGCTGAGGAATTAAAAGA	0.313																																						uc004bbv.2		NA																	0				ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						c.(754-756)GAA>CAA		structural maintenance of chromosomes 2							77.0	87.0	84.0					9																	106864358		2202	4299	6501	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106864358G>C	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.754G>C	9.37:g.106864358G>C	ENSP00000286398:p.Glu252Gln					SMC2_uc004bbu.1_Missense_Mutation_p.E252Q|SMC2_uc004bbw.2_Missense_Mutation_p.E252Q|SMC2_uc011lvl.1_Missense_Mutation_p.E252Q|SMC2_uc010mtg.1_Missense_Mutation_p.E107Q|SMC2_uc010mth.1_Missense_Mutation_p.E202Q|SMC2_uc004bbx.2_Missense_Mutation_p.E252Q	p.E252Q	NM_001042551	NP_001036016	O95347	SMC2_HUMAN			8	1042	+			252			Potential.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.754G>C	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127158	0.37533	.	.	ENSG00000136824	ENST00000286398;ENST00000440179;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T	0.81330	-1.37;-1.37;-1.48;-1.37	5.86	5.86	0.93980	RecF/RecN/SMC (1);	0.333481	0.36200	N	0.002739	T	0.74913	0.3779	L	0.48986	1.54	0.40808	D	0.98339	B;B;B	0.30526	0.066;0.066;0.283	B;B;B	0.31495	0.061;0.061;0.131	T	0.69397	-0.5156	10	0.19147	T	0.46	-3.6797	13.4089	0.60931	0.0758:0.0:0.9242:0.0	.	252;252;252	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	Q	252;107;252;252;252;252	ENSP00000286398:E252Q;ENSP00000363925:E252Q;ENSP00000306152:E252Q;ENSP00000363919:E252Q	ENSP00000286398:E252Q	E	+	1	0	SMC2	105904179	0.963000	0.33076	0.998000	0.56505	0.996000	0.88848	2.954000	0.49113	2.937000	0.99478	0.650000	0.86243	GAA		0.313	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			16	117	0	0	0	0	16	117				
OR13C4	138804	broad.mit.edu	37	9	107288808	107288808	+	Missense_Mutation	SNP	G	G	A	rs139144967		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:107288808G>A	ENST00000277216.3	-	1	682	c.683C>T	c.(682-684)aCg>aTg	p.T228M		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGCCGAGTTCGTTCGCAAGAT	0.403																																						uc011lvn.1		NA																	0				skin(1)	1						c.(682-684)ACG>ATG		olfactory receptor, family 13, subfamily C,		G	MET/THR	3,4403	6.2+/-15.9	0,3,2200	122.0	123.0	123.0		683	2.5	0.7	9	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR13C4	NM_001001919.1	81	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign	228/319	107288808	4,13002	2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288808G>A		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.683C>T	9.37:g.107288808G>A	ENSP00000277216:p.Thr228Met						p.T228M	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	683	-			228			Cytoplasmic (Potential).		Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.683C>T	CCDS35088.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.045	-1.271245	0.01421	6.81E-4	1.16E-4	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.00048	8.82	3.66	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.215104	0.32068	N	0.006638	T	0.00039	0.0001	N	0.00260	-1.75	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.12344	-1.0551	10	0.40728	T	0.16	.	7.4383	0.27169	0.8898:0.0:0.1102:0.0	.	228	Q8NGS5	O13C4_HUMAN	M	228;257	ENSP00000277216:T228M	ENSP00000277216:T228M	T	-	2	0	OR13C4	106328629	0.966000	0.33281	0.670000	0.29842	0.002000	0.02628	1.659000	0.37387	0.551000	0.29008	-0.385000	0.06624	ACG		0.403	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			66	71	0	0	0	0	66	71				
CTNNAL1	8727	broad.mit.edu	37	9	111705270	111705270	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:111705270G>C	ENST00000325551.4	-	18	2196	c.2110C>G	c.(2110-2112)Ctt>Gtt	p.L704V	FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.L704V|CTNNAL1_ENST00000374594.1_Missense_Mutation_p.L105V|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.L620V	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	704					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CAAAGTGAAAGAAGTTGGACT	0.303																																						uc004bdo.1		NA																	0				ovary(1)	1						c.(2110-2112)CTT>GTT		catenin, alpha-like 1							69.0	68.0	68.0					9																	111705270		2202	4299	6501	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111705270G>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.2110C>G	9.37:g.111705270G>C	ENSP00000320434:p.Leu704Val					CTNNAL1_uc010mts.1_Missense_Mutation_p.L356V|CTNNAL1_uc010mtt.1_Missense_Mutation_p.L666V|CTNNAL1_uc004bdp.1_Missense_Mutation_p.L704V|CTNNAL1_uc004bdq.1_Missense_Mutation_p.L190V	p.L704V	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	18	2152	-			704					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.2110C>G	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	G	8.666	0.901763	0.17760	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374594	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.84	4.94	0.65067	.	0.058701	0.64402	D	0.000001	T	0.31857	0.0810	L	0.34521	1.04	0.21105	N	0.999784	P;D;D;D;P	0.61697	0.952;0.99;0.982;0.971;0.952	P;P;P;P;P	0.55087	0.452;0.768;0.664;0.654;0.452	T	0.27806	-1.0063	10	0.02654	T	1	-6.7179	7.9526	0.30023	0.1679:0.0:0.8321:0.0	.	704;620;704;704;704	B2RBI4;Q9UBT7-3;B3KMX6;Q9UBT7-2;Q9UBT7	.;.;.;.;CTNL1_HUMAN	V	704;704;620;105	ENSP00000363723:L704V;ENSP00000320434:L704V;ENSP00000323351:L620V;ENSP00000363722:L105V	ENSP00000320434:L704V	L	-	1	0	CTNNAL1	110745091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.293000	0.59037	2.763000	0.94921	0.650000	0.86243	CTT		0.303	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		19	20	0	0	0	0	19	20				
GARNL3	84253	broad.mit.edu	37	9	130116626	130116626	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:130116626G>C	ENST00000373387.4	+	19	2048	c.1696G>C	c.(1696-1698)Gag>Cag	p.E566Q	GARNL3_ENST00000314904.5_Missense_Mutation_p.E566Q|GARNL3_ENST00000435213.2_Missense_Mutation_p.E544Q	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	566	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AAAGGGCCTTGAGGGGAAGCA	0.443																																						uc011mae.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1696-1698)GAG>CAG		GTPase activating Rap/RanGAP domain-like 3							75.0	78.0	77.0					9																	130116626		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130116626G>C	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1696G>C	9.37:g.130116626G>C	ENSP00000362485:p.Glu566Gln					GARNL3_uc011mad.1_Missense_Mutation_p.E544Q|GARNL3_uc010mxi.2_5'Flank	p.E566Q	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			19	2097	+			566			CNH.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.1696G>C	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	8.614	0.889922	0.17540	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	T;T;T	0.04758	3.56;3.56;3.56	5.95	4.11	0.48088	Citron-like (2);	0.195266	0.52532	D	0.000069	T	0.07908	0.0198	M	0.64997	1.995	0.46774	D	0.999196	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.10474	-1.0628	9	.	.	.	.	15.9295	0.79648	0.0:0.2549:0.7451:0.0	.	566;544	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	Q	544;566;566	ENSP00000396205:E544Q;ENSP00000313970:E566Q;ENSP00000362485:E566Q	.	E	+	1	0	GARNL3	129156447	1.000000	0.71417	0.103000	0.21229	0.451000	0.32288	4.431000	0.59915	0.845000	0.35118	-0.223000	0.12442	GAG		0.443	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		25	43	0	0	0	0	25	43				
PPAPDC3	84814	broad.mit.edu	37	9	134165521	134165521	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:134165521C>G	ENST00000372264.3	+	1	441	c.137C>G	c.(136-138)tCa>tGa	p.S46*	PPAPDC3_ENST00000372261.1_Nonsense_Mutation_p.S46*	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	46					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TCGGGCCCATCAGCACAGCCC	0.682																																						uc004cal.2		NA																	0				breast(1)	1						c.(136-138)TCA>TGA		phosphatidic acid phosphatase type 2 domain							22.0	22.0	22.0					9																	134165521		2202	4298	6500	SO:0001587	stop_gained	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134165521C>G	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.137C>G	9.37:g.134165521C>G	ENSP00000361338:p.Ser46*						p.S46*	NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	1	441	+	all_hematologic(7;0.0119)		46			Cytoplasmic (Potential).		Q5T6P0|Q96SS7|Q9BRC3	Nonsense_Mutation	SNP	ENST00000372264.3	37	c.137C>G	CCDS6942.1	.	.	.	.	.	.	.	.	.	.	C	35	5.517125	0.96416	.	.	ENSG00000160539	ENST00000372264;ENST00000372261	.	.	.	5.38	5.38	0.77491	.	0.321847	0.29087	N	0.013197	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.8366	18.1257	0.89585	0.0:1.0:0.0:0.0	.	.	.	.	X	46	.	ENSP00000361335:S46X	S	+	2	0	PPAPDC3	133155342	0.019000	0.18553	0.949000	0.38748	0.027000	0.11550	2.270000	0.43355	2.530000	0.85305	0.561000	0.74099	TCA		0.682	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		9	23	0	0	0	0	9	23				
GBGT1	26301	broad.mit.edu	37	9	136031310	136031310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:136031310G>A	ENST00000372040.3	-	5	513	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	GBGT1_ENST00000372043.3_Nonsense_Mutation_p.Q68*|GBGT1_ENST00000372038.3_Missense_Mutation_p.S80L|GBGT1_ENST00000540636.1_Nonsense_Mutation_p.Q51*|GBGT1_ENST00000472281.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.S80L	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	68					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		AGCTTGGGCTGAGGGTACTGT	0.557																																						uc004ccw.2		NA																	0					0						c.(202-204)CAG>TAG		globoside							139.0	129.0	132.0					9																	136031310		2203	4300	6503	SO:0001587	stop_gained	26301				carbohydrate metabolic process|glycolipid biosynthetic process	Golgi membrane|integral to membrane	metal ion binding	g.chr9:136031310G>A	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.202C>T	9.37:g.136031310G>A	ENSP00000361110:p.Gln68*					RALGDS_uc011mcw.1_Missense_Mutation_p.S80L|GBGT1_uc004ccx.2_Nonsense_Mutation_p.Q21*|GBGT1_uc010nab.2_Nonsense_Mutation_p.Q68*|GBGT1_uc011mcx.1_Nonsense_Mutation_p.Q51*|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Nonsense_Mutation_p.Q68*	p.Q68*	NM_021996	NP_068836	Q8N5D6	GBGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)	5	483	-			68			Lumenal (Potential).		A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Nonsense_Mutation	SNP	ENST00000372040.3	37	c.202C>T	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.663804|6.663804	0.97743|0.97743	.|.	.|.	ENSG00000148288|ENSG00000160271;ENSG00000148288	ENST00000372043;ENST00000372040;ENST00000540636|ENST00000542690;ENST00000372038	.|T;T	.|0.37411	.|1.74;1.2	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	.|T	.|0.31071	.|0.0785	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|B	.|0.19817	.|0.039	.|B	.|0.24006	.|0.05	.|T	.|0.39292	.|-0.9621	.|7	0.24483|0.51188	T|T	0.36|0.08	-6.3467|-6.3467	12.2276|12.2276	0.54470|0.54470	0.0:0.0:0.8296:0.1704|0.0:0.0:0.8296:0.1704	.|.	.|80	.|F5H6M6	.|.	X|L	68;68;51|80	.|ENSP00000437518:S80L;ENSP00000361108:S80L	ENSP00000361110:Q68X|ENSP00000361108:S80L	Q|S	-|-	1|2	0|0	GBGT1|GBGT1;RALGDS	135021131|135021131	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.814000|0.814000	0.46013|0.46013	2.264000|2.264000	0.43302|0.43302	2.411000|2.411000	0.81874|0.81874	0.563000|0.563000	0.77884|0.77884	CAG|TCA		0.557	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		53	61	0	0	0	0	53	61				
NOTCH1	4851	broad.mit.edu	37	9	139401042	139401042	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:139401042C>G	ENST00000277541.6	-	24	4026	c.3951G>C	c.(3949-3951)aaG>aaC	p.K1317N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1317	EGF-like 34. {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)		TGCCCCCATTCTTGCAGGGCT	0.687			"""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.(3949-3951)AAG>AAC		notch1 preproprotein							23.0	28.0	26.0					9																	139401042		2027	4171	6198	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.chr9:139401042C>G	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.3951G>C	9.37:g.139401042C>G	ENSP00000277541:p.Lys1317Asn	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Missense_Mutation_p.K547N	p.K1317N	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	24	3951	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1317			Extracellular (Potential).|EGF-like 34.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.3951G>C	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	9.018	0.984131	0.18889	.	.	ENSG00000148400	ENST00000277541	D	0.91843	-2.92	4.64	4.64	0.57946	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.244790	0.36778	N	0.002405	D	0.88381	0.6421	L	0.48642	1.525	0.41357	D	0.987401	B	0.26775	0.159	B	0.34536	0.185	T	0.83099	-0.0129	10	0.16420	T	0.52	.	10.1932	0.43039	0.0:0.9082:0.0:0.0918	.	1317	P46531	NOTC1_HUMAN	N	1317	ENSP00000277541:K1317N	ENSP00000277541:K1317N	K	-	3	2	NOTCH1	138520863	0.090000	0.21635	0.144000	0.22314	0.040000	0.13550	0.262000	0.18460	2.127000	0.65507	0.655000	0.94253	AAG		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		3	17	0	0	0	0	3	17				
NDOR1	27158	broad.mit.edu	37	9	140109353	140109353	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:140109353C>T	ENST00000344894.5	+	8	1031	c.948C>T	c.(946-948)ctC>ctT	p.L316L	NDOR1_ENST00000427047.2_Silent_p.L282L|NDOR1_ENST00000458322.2_Silent_p.L316L|NDOR1_ENST00000371521.4_Silent_p.L316L	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCTTCGAACTCCTGGCCTGTC	0.637																																						uc004clw.2		NA																	0					0						c.(946-948)CTC>CTT		NADPH dependent diflavin oxidoreductase 1							44.0	46.0	45.0					9																	140109353		2203	4299	6502	SO:0001819	synonymous_variant	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140109353C>T	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.948C>T	9.37:g.140109353C>T						NDOR1_uc004clx.2_Silent_p.L316L|NDOR1_uc011mes.1_Silent_p.L316L|NDOR1_uc004cly.2_Silent_p.L282L	p.L316L	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	8	1059	+	all_cancers(76;0.0926)		316			FAD-binding FR-type.			Silent	SNP	ENST00000344894.5	37	c.948C>T	CCDS7036.1																																																																																				0.637	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		67	47	0	0	0	0	67	47				
EHMT1	79813	broad.mit.edu	37	9	140728824	140728824	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:140728824C>T	ENST00000460843.1	+	26	3591	c.3564C>T	c.(3562-3564)gaC>gaT	p.D1188D		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1188	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACTGCATCGACGCGCGGTTCT	0.672																																						uc011mfc.1		NA																	0				breast(2)|pancreas(1)	3						c.(3562-3564)GAC>GAT		euchromatic histone-lysine N-methyltransferase 1							63.0	62.0	62.0					9																	140728824		2202	4300	6502	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140728824C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3564C>T	9.37:g.140728824C>T						EHMT1_uc004coe.2_Silent_p.D93D	p.D1188D	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	26	3601	+	all_cancers(76;0.164)		1188			SET.		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.3564C>T	CCDS7050.2																																																																																				0.672	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		12	37	0	0	0	0	12	37				
SYAP1	94056	broad.mit.edu	37	X	16774794	16774794	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:16774794C>T	ENST00000380155.3	+	7	826	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	245						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AGAGGCAGTACGGCCCAAAAC	0.343																																						uc004cxp.2		NA																	0				skin(1)	1						c.(733-735)CGG>TGG		SYAP1 protein							82.0	75.0	77.0					X																	16774794		2203	4300	6503	SO:0001583	missense	94056							g.chrX:16774794C>T	AF338728	CCDS14177.1	Xp22.31	2010-06-25	2010-06-25		ENSG00000169895	ENSG00000169895			16273	protein-coding gene	gene with protein product	"""SAP47 homolog (Drosophila)"""					11483580	Standard	NM_032796		Approved	FLJ14495, PRO3113	uc004cxp.3	Q96A49	OTTHUMG00000021192	ENST00000380155.3:c.733C>T	X.37:g.16774794C>T	ENSP00000369500:p.Arg245Trp					SYAP1_uc004cxo.2_Missense_Mutation_p.R245W|SYAP1_uc011miv.1_Missense_Mutation_p.R211W	p.R245W	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN			7	826	+	Hepatocellular(33;0.0997)		245					Q68CP1|Q96C60|Q96JQ6|Q96T20	Missense_Mutation	SNP	ENST00000380155.3	37	c.733C>T	CCDS14177.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973220	0.74246	.	.	ENSG00000169895	ENST00000380155	.	.	.	5.59	5.59	0.84812	.	0.047892	0.85682	D	0.000000	T	0.78104	0.4231	M	0.81682	2.555	0.49582	D	0.999808	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.913;0.965;0.995	T	0.77752	-0.2470	9	0.37606	T	0.19	-15.7698	12.4719	0.55792	0.2913:0.7087:0.0:0.0	.	211;245;245	B4E1C9;Q96A49;B2RBI2	.;SYAP1_HUMAN;.	W	245	.	ENSP00000369500:R245W	R	+	1	2	SYAP1	16684715	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.512000	0.35812	2.491000	0.84063	0.596000	0.82720	CGG		0.343	SYAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055904.1	NM_032796		12	33	0	0	0	0	12	33				
MED14	9282	broad.mit.edu	37	X	40534538	40534538	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:40534538A>T	ENST00000324817.1	-	22	3074	c.2956T>A	c.(2956-2958)Tct>Act	p.S986T	MED14_ENST00000496531.2_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	986					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTATAGGAGAAGGGGGATTA	0.423																																						uc004dex.3		NA																	0				breast(2)|kidney(1)|skin(1)	4						c.(2956-2958)TCT>ACT		mediator complex subunit 14							92.0	79.0	83.0					X																	40534538		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40534538A>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2956T>A	X.37:g.40534538A>T	ENSP00000323720:p.Ser986Thr						p.S986T	NM_004229	NP_004220	O60244	MED14_HUMAN			22	3096	-			986					Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.2956T>A	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.795729	0.90453	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.75087	0.3802	M	0.65975	2.015	0.80722	D	1	P	0.49447	0.924	P	0.60682	0.878	T	0.77736	-0.2476	9	0.66056	D	0.02	.	14.2676	0.66129	1.0:0.0:0.0:0.0	.	986	O60244	MED14_HUMAN	T	986	.	ENSP00000323720:S986T	S	-	1	0	MED14	40419482	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	1.748000	0.51833	0.441000	0.28932	TCT		0.423	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		14	39	0	0	0	0	14	39				
CACNA1F	778	broad.mit.edu	37	X	49067781	49067781	+	Splice_Site	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:49067781C>A	ENST00000376265.2	-	36	4355		c.e36+1		CACNA1F_ENST00000376251.1_Splice_Site|CACNA1F_ENST00000323022.5_Splice_Site	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit						axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGGTTCTCACCAGGAAGGCA	0.552																																						uc004dnb.2		NA																	0				breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.e36+1		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						103.0	81.0	88.0					X																	49067781		2203	4300	6503	SO:0001630	splice_region_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49067781C>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4293+1G>T	X.37:g.49067781C>A						CACNA1F_uc010nip.2_Splice_Site_p.L1420_splice	p.L1431_splice	NM_005183	NP_005174	O60840	CAC1F_HUMAN			36	4355	-								A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Splice_Site	SNP	ENST00000376265.2	37	c.4293_splice	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784899	0.49997	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1771	0.86844	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA1F	48954725	1.000000	0.71417	0.994000	0.49952	0.577000	0.36160	5.951000	0.70273	2.322000	0.78497	0.523000	0.50628	.		0.552	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	Intron	9	31	1	0	0.000442599	0.000589399	9	31				
AKAP4	8852	broad.mit.edu	37	X	49958650	49958650	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:49958650C>T	ENST00000376056.2	-	5	837	c.687G>A	c.(685-687)gaG>gaA	p.E229E	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Silent_p.E238E|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Silent_p.E229E					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTCCAACTTCTCCTTGATTT	0.448																																						uc004dow.1		NA																	0				kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(712-714)GAG>GAA		A-kinase anchor protein 4 isoform 1							128.0	118.0	121.0					X																	49958650		2203	4300	6503	SO:0001819	synonymous_variant	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958650C>T	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.687G>A	X.37:g.49958650C>T						AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.E60E|AKAP4_uc004dou.1_Silent_p.E229E	p.E238E	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			5	838	-	Ovarian(276;0.236)		238						Silent	SNP	ENST00000376056.2	37	c.714G>A	CCDS14330.1																																																																																				0.448	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		30	90	0	0	0	0	30	90				
DGAT2L6	347516	broad.mit.edu	37	X	69424816	69424816	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:69424816C>T	ENST00000333026.3	+	7	974	c.874C>T	c.(874-876)Cca>Tca	p.P292S		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	292					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGAACCCCTTCCAATTCCCAG	0.463																																						uc004dxx.1		NA																	0				ovary(1)	1						c.(874-876)CCA>TCA		diacylglycerol O-acyltransferase 2-like 6							72.0	62.0	65.0					X																	69424816		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69424816C>T	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.874C>T	X.37:g.69424816C>T	ENSP00000328036:p.Pro292Ser						p.P292S	NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN			7	971	+			292					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.874C>T	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959814	0.53400	.	.	ENSG00000184210	ENST00000333026	D	0.92858	-3.12	4.74	4.74	0.60224	.	0.209758	0.33712	N	0.004629	D	0.91620	0.7352	L	0.56396	1.775	0.36896	D	0.890138	P	0.47604	0.898	P	0.51657	0.676	D	0.90907	0.4773	10	0.27082	T	0.32	-16.5379	9.3478	0.38120	0.2129:0.7871:0.0:0.0	.	292	Q6ZPD8	DG2L6_HUMAN	S	292	ENSP00000328036:P292S	ENSP00000328036:P292S	P	+	1	0	DGAT2L6	69341541	1.000000	0.71417	0.995000	0.50966	0.727000	0.41649	4.436000	0.59948	2.202000	0.70862	0.600000	0.82982	CCA		0.463	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		10	26	0	0	0	0	10	26				
P2RY10	27334	broad.mit.edu	37	X	78216842	78216842	+	Missense_Mutation	SNP	C	C	A	rs186548823		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:78216842C>A	ENST00000171757.2	+	4	1105	c.825C>A	c.(823-825)agC>agA	p.S275R	P2RY10_ENST00000544091.1_Missense_Mutation_p.S275R	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	275						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						CCATCATTAGCAGTTGTCCCG	0.423																																						uc004ede.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(823-825)AGC>AGA		G-protein coupled purinergic receptor P2Y10							221.0	203.0	209.0					X																	78216842		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216842C>A	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.825C>A	X.37:g.78216842C>A	ENSP00000171757:p.Ser275Arg					P2RY10_uc004edf.2_Missense_Mutation_p.S275R	p.S275R	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	1194	+			275			Extracellular (Potential).		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.825C>A	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	C	2.990	-0.208395	0.06180	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.66280	-0.2;-0.2	4.99	-0.267	0.12938	GPCR, rhodopsin-like superfamily (1);	2.040480	0.02135	N	0.056646	T	0.50154	0.1599	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.07520	-1.0768	10	0.13853	T	0.58	.	3.9249	0.09259	0.2659:0.3756:0.0:0.3584	.	275	O00398	P2Y10_HUMAN	R	275	ENSP00000443138:S275R;ENSP00000171757:S275R	ENSP00000171757:S275R	S	+	3	2	P2RY10	78103498	0.000000	0.05858	0.876000	0.34364	0.784000	0.44337	-0.796000	0.04575	-0.081000	0.12662	0.597000	0.82753	AGC		0.423	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			80	161	1	0	3.37e-29	4.74e-29	80	161				
BRWD3	254065	broad.mit.edu	37	X	79975138	79975138	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:79975138C>T	ENST00000373275.4	-	18	2110	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	632					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTACCTGTTCTACTACCTCA	0.358																																						uc004edt.2		NA																	0				ovary(4)	4						c.(1894-1896)GAA>AAA		bromodomain and WD repeat domain containing 3							184.0	154.0	164.0					X																	79975138		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79975138C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1894G>A	X.37:g.79975138C>T	ENSP00000362372:p.Glu632Lys					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.E228K|BRWD3_uc004edp.2_Missense_Mutation_p.E461K|BRWD3_uc004edq.2_Missense_Mutation_p.E228K|BRWD3_uc010nmj.1_Missense_Mutation_p.E228K|BRWD3_uc004edr.2_Missense_Mutation_p.E302K|BRWD3_uc004eds.2_Missense_Mutation_p.E228K|BRWD3_uc004edu.2_Missense_Mutation_p.E302K|BRWD3_uc004edv.2_Missense_Mutation_p.E228K|BRWD3_uc004edw.2_Missense_Mutation_p.E228K|BRWD3_uc004edx.2_Missense_Mutation_p.E228K|BRWD3_uc004edy.2_Missense_Mutation_p.E228K|BRWD3_uc004edz.2_Missense_Mutation_p.E302K|BRWD3_uc004eea.2_Missense_Mutation_p.E302K|BRWD3_uc004eeb.2_Missense_Mutation_p.E228K	p.E632K	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			18	2157	-			632					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1894G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875326	0.91664	.	.	ENSG00000165288	ENST00000373275	T	0.58940	0.3	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.78304	0.4262	M	0.86343	2.81	0.53688	D	0.999979	D	0.67145	0.996	D	0.65573	0.936	T	0.82242	-0.0554	9	.	.	.	-19.7655	17.2173	0.86947	0.0:1.0:0.0:0.0	.	632	Q6RI45	BRWD3_HUMAN	K	632	ENSP00000362372:E632K	.	E	-	1	0	BRWD3	79861794	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.009000	0.76347	2.246000	0.74042	0.600000	0.82982	GAA		0.358	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		30	86	0	0	0	0	30	86				
DIAPH2	1730	broad.mit.edu	37	X	96204003	96204003	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:96204003G>A	ENST00000324765.8	+	15	1926	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	DIAPH2_ENST00000373054.4_Missense_Mutation_p.E523K|DIAPH2_ENST00000373061.3_Missense_Mutation_p.E527K|DIAPH2_ENST00000355827.4_Missense_Mutation_p.E527K|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E527K			O60879	DIAP2_HUMAN	diaphanous-related formin 2	527					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GAAAATCAAAGAACTTGAAGC	0.373																																						uc004efu.3		NA																	0				ovary(3)|lung(1)	4						c.(1579-1581)GAA>AAA		diaphanous 2 isoform 156							68.0	62.0	64.0					X																	96204003		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96204003G>A	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1579G>A	X.37:g.96204003G>A	ENSP00000321348:p.Glu527Lys					DIAPH2_uc004eft.3_Missense_Mutation_p.E527K	p.E527K	NM_006729	NP_006720	O60879	DIAP2_HUMAN			15	1975	+			527			Potential.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.1579G>A	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172180	0.78452	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.22945	2.92;1.93;2.92;2.92;2.92	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	T	0.47021	0.1423	M	0.61703	1.905	0.46028	D	0.998828	D;P	0.63880	0.993;0.952	D;P	0.64506	0.926;0.718	T	0.40831	-0.9542	10	0.41790	T	0.15	.	16.997	0.86370	0.0:0.0:1.0:0.0	.	527;527	O60879;O60879-2	DIAP2_HUMAN;.	K	527;523;527;527;527;534	ENSP00000362152:E527K;ENSP00000362145:E523K;ENSP00000348082:E527K;ENSP00000362140:E527K;ENSP00000321348:E527K	ENSP00000321348:E527K	E	+	1	0	DIAPH2	96090659	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.784000	0.91818	2.032000	0.59987	0.538000	0.68166	GAA		0.373	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		11	30	0	0	0	0	11	30				
XKRX	402415	broad.mit.edu	37	X	100169570	100169570	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:100169570G>C	ENST00000372956.2	-	3	1711	c.1107C>G	c.(1105-1107)ttC>ttG	p.F369L	XKRX_ENST00000328526.5_Missense_Mutation_p.F382L|XKRX_ENST00000468904.1_3'UTR			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	369						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCACTCCAAAGAACTTAAAAA	0.428																																						uc004egn.2		NA																	0				breast(1)	1						c.(1105-1107)TTC>TTG		XK, Kell blood group complex subunit-related,							178.0	151.0	160.0					X																	100169570		2203	4300	6503	SO:0001583	missense	402415					integral to membrane|plasma membrane		g.chrX:100169570G>C	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.1107C>G	X.37:g.100169570G>C	ENSP00000362047:p.Phe369Leu					XKRX_uc011mre.1_Missense_Mutation_p.F165L	p.F369L	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN			3	1712	-			369			Helical; (Potential).		B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	c.1107C>G	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303753	0.23736	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	T;T	0.61980	0.06;0.06	5.74	3.0	0.34707	.	0.192097	0.56097	D	0.000028	T	0.47655	0.1457	L	0.40543	1.245	0.36162	D	0.848196	B	0.12630	0.006	B	0.10450	0.005	T	0.43410	-0.9393	10	0.13470	T	0.59	-13.8833	9.9107	0.41403	0.2818:0.0:0.7182:0.0	.	369	Q6PP77	XKR2_HUMAN	L	382;369	ENSP00000327570:F382L;ENSP00000362047:F369L	ENSP00000327570:F382L	F	-	3	2	XKRX	100056226	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	4.363000	0.59473	0.579000	0.29504	0.538000	0.68166	TTC		0.428	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		51	114	0	0	0	0	51	114				
COL4A5	1287	broad.mit.edu	37	X	107925060	107925060	+	Missense_Mutation	SNP	C	C	G	rs104886404		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:107925060C>G	ENST00000361603.2	+	45	4384	c.4140C>G	c.(4138-4140)atC>atG	p.I1380M	COL4A5_ENST00000328300.6_Missense_Mutation_p.I1386M	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1380	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTCCAGGAATCCCTGGCCAGC	0.453									Alport syndrome with Diffuse Leiomyomatosis																													uc004enz.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(4156-4158)ATC>ATG		type IV collagen alpha 5 isoform 2 precursor							90.0	78.0	82.0					X																	107925060		2203	4300	6503	SO:0001583	missense	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107925060C>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4140C>G	X.37:g.107925060C>G	ENSP00000354505:p.Ile1380Met					COL4A5_uc011mso.1_Missense_Mutation_p.I1383M|COL4A5_uc011msp.1_Missense_Mutation_p.I62M	p.I1386M	NM_033380	NP_203699	P29400	CO4A5_HUMAN			46	4360	+			1380			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4158C>G	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	5.779	0.328046	0.10956	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.94280	-3.39;-3.39	5.0	-0.742	0.11108	.	1.049060	0.07391	N	0.889100	D	0.88983	0.6586	L	0.41906	1.305	0.19300	N	0.999979	B;B	0.19817	0.039;0.018	B;B	0.30855	0.121;0.034	T	0.76578	-0.2908	10	0.32370	T	0.25	.	5.6278	0.17492	0.2261:0.1793:0.0:0.5946	.	1383;1380	E7EVY4;P29400	.;CO4A5_HUMAN	M	1386;1380;1386	ENSP00000331902:I1386M;ENSP00000354505:I1380M	ENSP00000331902:I1386M	I	+	3	3	COL4A5	107811716	0.003000	0.15002	0.699000	0.30290	0.386000	0.30323	-0.638000	0.05452	-0.030000	0.13804	-0.322000	0.08575	ATC		0.453	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			13	58	0	0	0	0	13	58				
SLC25A43	203427	broad.mit.edu	37	X	118586986	118586986	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:118586986C>A	ENST00000217909.7	+	5	1328	c.984C>A	c.(982-984)ttC>ttA	p.F328L	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	328					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						TAAAGAAGTTCTTCAAAACGA	0.388																																						uc004erd.2		NA																	0				skin(1)	1						c.(982-984)TTC>TTA		mitochondrial solute carrier protein							97.0	99.0	98.0					X																	118586986		2203	4300	6503	SO:0001583	missense	203427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chrX:118586986C>A	BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.984C>A	X.37:g.118586986C>A	ENSP00000217909:p.Phe328Leu					SLC25A43_uc011mtt.1_3'UTR	p.F328L	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN			5	1328	+			328					O75854|Q8N9L5	Missense_Mutation	SNP	ENST00000217909.7	37	c.984C>A	CCDS14577.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657061	0.47467	.	.	ENSG00000077713	ENST00000217909;ENST00000326714	T	0.78595	-1.19	5.24	1.19	0.21007	.	.	.	.	.	T	0.52289	0.1725	N	0.11560	0.145	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33523	-0.9865	9	0.30854	T	0.27	.	2.6389	0.04965	0.2484:0.4781:0.1198:0.1538	.	328	Q8WUT9	S2543_HUMAN	L	328;276	ENSP00000217909:F328L	ENSP00000217909:F328L	F	+	3	2	SLC25A43	118471014	0.987000	0.35691	1.000000	0.80357	0.991000	0.79684	0.289000	0.18957	0.417000	0.25871	0.600000	0.82982	TTC		0.388	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305		36	82	1	0	1.07e-15	1.48e-15	36	82				
SEPT6	23157	broad.mit.edu	37	X	118763373	118763373	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:118763373G>A	ENST00000343984.5	-	9	1452	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	SEPT6_ENST00000354416.3_Silent_p.F396F|SEPT6_ENST00000354228.4_Silent_p.F396F|SEPT6_ENST00000394616.4_Silent_p.F338F|SEPT6_ENST00000394610.1_Silent_p.F396F|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000360156.7_Silent_p.F396F|SEPT6_ENST00000489216.1_Silent_p.F396F|SEPT6_ENST00000394617.2_Silent_p.F426F	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	396					cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TTCTTTGCTTGAAAGCATTCA	0.493			T	MLL	AML																																	uc004erv.2		NA		Dom	yes		X	Xq24	23157		septin 6			L					0				lung(1)|ovary(1)|prostate(1)|kidney(1)	4						c.(1186-1188)TTC>TTT		septin 6 isoform B							143.0	133.0	137.0					X																	118763373		2203	4300	6503	SO:0001819	synonymous_variant	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118763373G>A	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.1188C>T	X.37:g.118763373G>A						SEPT6_uc010nqk.2_RNA|SEPT6_uc004ers.2_Silent_p.F396F|SEPT6_uc004ert.2_Silent_p.F396F|SEPT6_uc004eru.2_Silent_p.F396F|SEPT6_uc004erw.2_Silent_p.F338F|SEPT6_uc011mtv.1_Silent_p.F338F|SEPT6_uc011mtw.1_Silent_p.F426F	p.F396F	NM_015129	NP_055944	Q14141	SEPT6_HUMAN			9	1453	-			396			Potential.		Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Silent	SNP	ENST00000343984.5	37	c.1188C>T	CCDS14584.1																																																																																				0.493	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		67	101	0	0	0	0	67	101				
ELF4	2000	broad.mit.edu	37	X	129203540	129203540	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:129203540C>T	ENST00000308167.5	-	8	1301	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	ELF4_ENST00000335997.7_Missense_Mutation_p.E308K	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCTGTGGCTTCGCTGCTCTCA	0.602			T	ERG	AML																																	uc004evd.3		NA		Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				ovary(1)	1						c.(922-924)GAA>AAA		E74-like factor 4							71.0	75.0	73.0					X																	129203540		2203	4300	6503	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129203540C>T	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.922G>A	X.37:g.129203540C>T	ENSP00000311280:p.Glu308Lys					ELF4_uc004eve.3_Missense_Mutation_p.E308K	p.E308K	NM_001421	NP_001412	Q99607	ELF4_HUMAN			8	1307	-			308						Missense_Mutation	SNP	ENST00000308167.5	37	c.922G>A	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014364	0.54468	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.54479	0.57;0.57	5.47	5.47	0.80525	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.640100	0.14337	N	0.326013	T	0.51550	0.1681	N	0.25890	0.77	0.28606	N	0.908921	D	0.67145	0.996	P	0.50490	0.642	T	0.51741	-0.8667	10	0.56958	D	0.05	.	15.6647	0.77221	0.0:1.0:0.0:0.0	.	308	Q99607	ELF4_HUMAN	K	308	ENSP00000338608:E308K;ENSP00000311280:E308K	ENSP00000311280:E308K	E	-	1	0	ELF4	129031221	0.963000	0.33076	0.042000	0.18584	0.174000	0.22865	2.610000	0.46325	2.294000	0.77228	0.590000	0.80494	GAA		0.602	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		11	123	0	0	0	0	11	123				
SAGE1	55511	broad.mit.edu	37	X	134989482	134989482	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:134989482C>T	ENST00000370709.3	+	8	888	c.888C>T	c.(886-888)gtC>gtT	p.V296V	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Silent_p.V296V|SAGE1_ENST00000324447.3_Silent_p.V296V			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	296						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATTCCACCGTCCCTCACAATG	0.418																																						uc004ezh.2		NA																	0				ovary(2)|skin(1)	3						c.(886-888)GTC>GTT		sarcoma antigen 1							108.0	90.0	96.0					X																	134989482		2203	4299	6502	SO:0001819	synonymous_variant	55511							g.chrX:134989482C>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.888C>T	X.37:g.134989482C>T						SAGE1_uc010nry.1_Silent_p.V265V|SAGE1_uc011mvv.1_Intron	p.V296V	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			9	1055	+	Acute lymphoblastic leukemia(192;0.000127)		296					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.888C>T	CCDS14652.1																																																																																				0.418	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		5	82	0	0	0	0	5	82				
SAGE1	55511	broad.mit.edu	37	X	134991057	134991057	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:134991057G>A	ENST00000370709.3	+	12	1476	c.1476G>A	c.(1474-1476)aaG>aaA	p.K492K	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Silent_p.K492K|SAGE1_ENST00000324447.3_Silent_p.K492K			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	492						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GTGAAGAGAAGATGGAAAGTG	0.468																																						uc004ezh.2		NA																	0				ovary(2)|skin(1)	3						c.(1474-1476)AAG>AAA		sarcoma antigen 1							195.0	141.0	159.0					X																	134991057		2203	4300	6503	SO:0001819	synonymous_variant	55511							g.chrX:134991057G>A	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1476G>A	X.37:g.134991057G>A						SAGE1_uc010nry.1_Silent_p.K461K|SAGE1_uc011mvv.1_Intron	p.K492K	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			13	1643	+	Acute lymphoblastic leukemia(192;0.000127)		492					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.1476G>A	CCDS14652.1																																																																																				0.468	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		32	61	0	0	0	0	32	61				
ZIC3	7547	broad.mit.edu	37	X	136652129	136652129	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:136652129C>A	ENST00000287538.5	+	3	1854	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Intron	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	435					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCTATAGCTTCTGCAAACAGT	0.438																																						uc004fak.2		NA																	0				ovary(2)|breast(1)	3						c.(1303-1305)TCT>TAT		zinc finger protein of the cerebellum 3							136.0	132.0	133.0					X																	136652129		2203	4300	6503	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136652129C>A	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1304C>A	X.37:g.136652129C>A	ENSP00000287538:p.Ser435Tyr						p.S435Y	NM_003413	NP_003404	O60481	ZIC3_HUMAN			3	1809	+	Acute lymphoblastic leukemia(192;0.000127)		435					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.1304C>A	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314620	0.60524	.	.	ENSG00000156925	ENST00000287538	T	0.13657	2.57	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	M	0.72894	2.215	0.80722	D	1	D	0.61697	0.99	D	0.71656	0.974	T	0.02282	-1.1183	10	0.42905	T	0.14	.	18.1822	0.89782	0.0:1.0:0.0:0.0	.	435	O60481	ZIC3_HUMAN	Y	435	ENSP00000287538:S435Y	ENSP00000287538:S435Y	S	+	2	0	ZIC3	136479795	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.459000	0.80802	2.517000	0.84864	0.600000	0.82982	TCT		0.438	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			82	146	1	0	3.37e-29	4.74e-29	82	146				
F9	2158	broad.mit.edu	37	X	138619217	138619217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:138619217G>A	ENST00000218099.2	+	2	144	c.137G>A	c.(136-138)aGg>aAg	p.R46K	F9_ENST00000394090.2_Missense_Mutation_p.R46K|F9_ENST00000479617.2_3'UTR	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	46			R -> S (in HEMB; severe; Cambridge).|R -> T (in HEMB; severe). {ECO:0000269|PubMed:9600455}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CGGCCAAAGAGGTATAATTCA	0.323																																						uc004fas.1		NA																	0				lung(2)|ovary(1)	3	GRCh37	CM980721	F9	M		c.(136-138)AGG>AAG		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						119.0	120.0	120.0					X																	138619217		2202	4299	6501	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138619217G>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.137G>A	X.37:g.138619217G>A	ENSP00000218099:p.Arg46Lys					F9_uc004fat.1_Missense_Mutation_p.R46K	p.R46K	NM_000133	NP_000124	P00740	FA9_HUMAN			2	166	+	Acute lymphoblastic leukemia(192;0.000127)		46		R -> T (in HEMB; severe).|R -> S (in HEMB; severe; Cambridge).			A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.137G>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012775	0.75161	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.95103	-3.46;-3.61	5.19	5.19	0.71726	Gamma-carboxyglutamic acid-rich (GLA) domain (1);	0.000000	0.85682	D	0.000000	D	0.97561	0.9201	M	0.89785	3.06	0.47621	D	0.999474	D;D	0.89917	0.999;1.0	P;D	0.74348	0.882;0.983	D	0.98498	1.0613	10	0.87932	D	0	.	15.0976	0.72247	0.0:0.0:1.0:0.0	.	46;46	Q5FBE1;P00740	.;FA9_HUMAN	K	46	ENSP00000218099:R46K;ENSP00000377650:R46K	ENSP00000218099:R46K	R	+	2	0	F9	138446883	1.000000	0.71417	0.665000	0.29768	0.997000	0.91878	8.697000	0.91307	2.151000	0.67156	0.600000	0.82982	AGG		0.323	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			8	173	0	0	0	0	8	173				
SPANXN2	494119	broad.mit.edu	37	X	142795394	142795394	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:142795394G>A	ENST00000370498.1	-	2	1037	c.284C>T	c.(283-285)tCt>tTt	p.S95F		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	95										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGAAGATCCTTCAGC	0.502																																						uc004fbz.2		NA																	0				ovary(1)	1						c.(283-285)TCT>TTT		SPANX-N2 protein							318.0	287.0	297.0					X																	142795394		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795394G>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.284C>T	X.37:g.142795394G>A	ENSP00000359529:p.Ser95Phe						p.S95F	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	1038	-	Acute lymphoblastic leukemia(192;6.56e-05)		95					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.284C>T	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	G	2.943	-0.218566	0.06101	.	.	ENSG00000203924	ENST00000370498	T	0.08008	3.14	0.68	-1.36	0.09085	.	.	.	.	.	T	0.06735	0.0172	L	0.53249	1.67	0.09310	N	1	P	0.44816	0.844	B	0.38194	0.267	T	0.14811	-1.0459	8	0.72032	D	0.01	.	.	.	.	.	95	Q5MJ10	SPXN2_HUMAN	F	95	ENSP00000359529:S95F	ENSP00000359529:S95F	S	-	2	0	SPANXN2	142623060	0.936000	0.31750	0.000000	0.03702	0.002000	0.02628	0.377000	0.20552	-1.791000	0.01261	-0.907000	0.02831	TCT		0.502	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		164	354	0	0	0	0	164	354				
GABRE	2564	broad.mit.edu	37	X	151123391	151123391	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:151123391C>G	ENST00000370328.3	-	9	1356	c.1303G>C	c.(1303-1305)Gag>Cag	p.E435Q	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_3'UTR|AF274855.1_ENST00000582865.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	435					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGGGGACCCTCAGGGCTACCT	0.592																																						uc004ffi.2		NA																	0				ovary(2)	2						c.(1303-1305)GAG>CAG		gamma-aminobutyric acid (GABA) A receptor,							31.0	29.0	30.0					X																	151123391		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151123391C>G	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1303G>C	X.37:g.151123391C>G	ENSP00000359353:p.Glu435Gln					GABRE_uc011myd.1_RNA	p.E435Q	NM_004961	NP_004952	P78334	GBRE_HUMAN			9	1357	-	Acute lymphoblastic leukemia(192;6.56e-05)		435			Cytoplasmic (Probable).		E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.1303G>C	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.805713	0.00606	.	.	ENSG00000102287	ENST00000370328	D	0.85484	-1.99	3.21	-0.149	0.13420	Neurotransmitter-gated ion-channel transmembrane domain (2);	4.139790	0.00508	N	0.000175	T	0.75140	0.3809	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.59289	-0.7482	10	0.11485	T	0.65	.	9.912	0.41411	0.0:0.6133:0.3867:0.0	.	435	P78334	GBRE_HUMAN	Q	435	ENSP00000359353:E435Q	ENSP00000359353:E435Q	E	-	1	0	GABRE	150874047	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.273000	0.18662	0.049000	0.15920	-0.218000	0.12543	GAG		0.592	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		8	19	0	0	0	0	8	19				
ATP2B3	492	broad.mit.edu	37	X	152845456	152845456	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:152845456C>T	ENST00000349466.2	+	21	3689	c.3363C>T	c.(3361-3363)ttC>ttT	p.F1121F	ATP2B3_ENST00000370186.1_Missense_Mutation_p.P1159S|ATP2B3_ENST00000370181.2_Missense_Mutation_p.P1159S|ATP2B3_ENST00000359149.3_Missense_Mutation_p.P1173S|ATP2B3_ENST00000263519.4_Silent_p.F1121F			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1121	Calmodulin-binding subdomain B. {ECO:0000250}.				blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAAAGCGTTCCGTAGCTCGC	0.562																																						uc004fht.1		NA																	0				pancreas(1)	1						c.(3361-3363)TTC>TTT		plasma membrane calcium ATPase 3 isoform 3b							113.0	98.0	103.0					X																	152845456		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152845456C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3363C>T	X.37:g.152845456C>T						ATP2B3_uc004fhs.1_Missense_Mutation_p.P1173S|ATP2B3_uc010nuf.1_Silent_p.F258F|ATP2B3_uc004fhu.1_Silent_p.F73F	p.F1121F	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			20	3489	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1121			Calmodulin-binding subdomain B (By similarity).|Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.3363C>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	c	18.57	3.651728	0.67472	.	.	ENSG00000067842	ENST00000370186;ENST00000359149;ENST00000370181	D;D;D	0.93488	-3.23;-3.23;-3.23	5.02	5.02	0.67125	.	.	.	.	.	D	0.91136	0.7209	.	.	.	0.35724	D	0.817418	B	0.20887	0.049	B	0.21360	0.034	D	0.91596	0.5291	8	0.87932	D	0	-30.7084	16.1597	0.81693	0.0:1.0:0.0:0.0	.	1173	Q16720-2	.	S	1159;1173;1159	ENSP00000359205:P1159S;ENSP00000352062:P1173S;ENSP00000359200:P1159S	ENSP00000352062:P1173S	P	+	1	0	ATP2B3	152498650	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.052000	0.41316	2.065000	0.61736	0.525000	0.51046	CCG		0.562	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		51	70	0	0	0	0	51	70				
EPHA8	2046	broad.mit.edu	37	1	22927210	22927212	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:22927210_22927212delCTC	ENST00000166244.3	+	14	2517_2519	c.2445_2447delCTC	c.(2443-2448)ttctcc>ttc	p.S817del		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	817	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCGCACCTTCTCCTCGGCCAGC	0.665																																						uc001bfx.1		NA																	0				central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(2443-2448)TTCTCC>TTC		ephrin receptor EphA8 isoform 1 precursor																																				SO:0001651	inframe_deletion	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927210_22927212delCTC	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2445_2447delCTC	1.37:g.22927213_22927215delCTC	ENSP00000166244:p.Ser817del						p.S817del	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2570_2572	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	817			Cytoplasmic (Potential).|Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	In_Frame_Del	DEL	ENST00000166244.3	37	c.2445_2447delCTC	CCDS225.1																																																																																				0.665	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		22	75	NA	NA	NA	NA	22	75	---	---	---	---
RCSD1	92241	broad.mit.edu	37	1	167666869	167666872	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:167666869_167666872delAAAG	ENST00000367854.3	+	6	1339_1342	c.1008_1011delAAAG	c.(1006-1011)acaaagfs	p.TK336fs	RCSD1_ENST00000537350.1_Frame_Shift_Del_p.TK306fs	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	336					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCCAAGAAACAAAGAAGCTGGAGG	0.554																																						uc001gem.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1006-1011)ACAAAGfs		RCSD domain containing 1																																				SO:0001589	frameshift_variant	92241							g.chr1:167666869_167666872delAAAG	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.1008_1011delAAAG	1.37:g.167666869_167666872delAAAG	ENSP00000356828:p.Thr336fs					RCSD1_uc010pli.1_Frame_Shift_Del_p.T306fs	p.T336fs	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN			6	1195_1198	+	all_hematologic(923;0.215)		336_337					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Frame_Shift_Del	DEL	ENST00000367854.3	37	c.1008_1011delAAAG	CCDS1263.1																																																																																				0.554	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		5	11	NA	NA	NA	NA	5	11	---	---	---	---
DDX21	9188	broad.mit.edu	37	10	70737400	70737400	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:70737400delG	ENST00000354185.4	+	12	1956	c.1858delG	c.(1858-1860)ggtfs	p.G620fs		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	620					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCATATTTCAGGTGCCACGTC	0.502																																						uc001jov.1		NA																	0				ovary(2)|kidney(1)	3						c.(1858-1860)GGTfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 21							103.0	100.0	101.0					10																	70737400		2203	4300	6503	SO:0001589	frameshift_variant	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70737400delG	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.1858delG	10.37:g.70737400delG	ENSP00000346120:p.Gly620fs					DDX21_uc001jow.1_Frame_Shift_Del_p.G552fs	p.G620fs	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN			12	1948	+			620					B2RDL0|Q13436|Q5VX41|Q68D35	Frame_Shift_Del	DEL	ENST00000354185.4	37	c.1858delG	CCDS31211.1																																																																																				0.502	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		77	83	NA	NA	NA	NA	77	83	---	---	---	---
KRT6A	3853	broad.mit.edu	37	12	52882219	52882220	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:52882219_52882220insT	ENST00000330722.6	-	7	1384_1385	c.1316_1317insA	c.(1315-1317)cagfs	p.Q439fs		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	439	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGCCAGGTCCTGCTTGGCCTT	0.624																																						uc001sam.2		NA																	0				ovary(4)|skin(1)	5						c.(1315-1317)CAGfs		keratin 6A																																				SO:0001589	frameshift_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52882219_52882220insT	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1317dupA	12.37:g.52882220_52882220dupT	ENSP00000369317:p.Gln439fs						p.Q439fs	NM_005554	NP_005545	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1525_1526	-			439			Rod.|Coil 2.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Frame_Shift_Ins	INS	ENST00000330722.6	37	c.1316_1317insA	CCDS41786.1																																																																																				0.624	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		8	116	NA	NA	NA	NA	8	116	---	---	---	---
B2M	567	broad.mit.edu	37	15	45007631	45007632	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:45007631_45007632insA	ENST00000558401.1	+	2	148_149	c.78_79insA	c.(79-81)attfs	p.I27fs	B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Frame_Shift_Ins_p.I27fs|B2M_ENST00000544417.1_Frame_Shift_Ins_p.I27fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	27	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 exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GTACTCCAAAGATTCAGGTTTA	0.421																																						uc001zuc.2		NA																	0				ovary(2)|skin(1)	3						c.(76-81)AAGATTfs		beta-2-microglobulin precursor																																				SO:0001589	frameshift_variant	567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45007631_45007632insA	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.79dupA	15.37:g.45007632_45007632dupA	ENSP00000452780:p.Ile27fs					B2M_uc010uek.1_Frame_Shift_Ins_p.K26fs|B2M_uc010bdx.1_Frame_Shift_Ins_p.K26fs	p.K26fs	NM_004048	NP_004039	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	2	138_139	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	26_27			Ig-like C1-type.		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Ins	INS	ENST00000558401.1	37	c.78_79insA	CCDS10113.1																																																																																				0.421	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		35	90	NA	NA	NA	NA	35	90	---	---	---	---
CRYBA1	1411	broad.mit.edu	37	17	27581304	27581307	+	Frame_Shift_Del	DEL	GAGA	GAGA	-			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:27581304_27581307delGAGA	ENST00000225387.3	+	6	586_589	c.585_588delGAGA	c.(583-588)tggagafs	p.WR195fs		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	195	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATAAACATTGGAGAGAGTGGGGCT	0.441																																						uc002hdw.2		NA																	0					0						c.(583-588)TGGAGAfs		crystallin, beta A3				0,4264		0,0,2132						5.4	1.0			133	1,8253		0,1,4126	no	frameshift	CRYBA1	NM_005208.4		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	1411				visual perception	soluble fraction	structural constituent of eye lens	g.chr17:27581304_27581307delGAGA		CCDS11249.1	17q11.2-q12	2008-07-18			ENSG00000108255	ENSG00000108255			2394	protein-coding gene	gene with protein product	"""eye lens structural protein"""	123610		CRYB1		3745196, 3770741	Standard	NM_005208		Approved		uc002hdw.3	P05813	OTTHUMG00000132729	ENST00000225387.3:c.585_588delGAGA	17.37:g.27581304_27581307delGAGA	ENSP00000225387:p.Trp195fs						p.W195fs	NM_005208	NP_005199	P05813	CRBA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		6	592_595	+			195_196			Beta/gamma crystallin 'Greek key' 4.		Q13633|Q14CM9	Frame_Shift_Del	DEL	ENST00000225387.3	37	c.585_588delGAGA	CCDS11249.1																																																																																				0.441	CRYBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256071.2	NM_005208		26	80	NA	NA	NA	NA	26	80	---	---	---	---
FOSL2	2355	broad.mit.edu	37	2	28634937	28634938	+	Frame_Shift_Ins	INS	-	-	CCAG			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:28634937_28634938insCCAG	ENST00000264716.4	+	4	1466_1467	c.603_604insCCAG	c.(604-606)ccafs	p.-203fs	FOSL2_ENST00000545753.1_Frame_Shift_Ins_p.-164fs|FOSL2_ENST00000379619.1_Frame_Shift_Ins_p.-195fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2						cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GCCGATCGCCCCCAGCCCCTGG	0.644																																						uc002rma.2		NA																	0				ovary(2)|breast(1)	3						c.(601-606)CCCCCAfs		FOS-like antigen 2																																				SO:0001589	frameshift_variant	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28634937_28634938insCCAG		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.604_607dupCCAG	2.37:g.28634938_28634941dupCCAG	ENSP00000264716:p.Ala203fs					FOSL2_uc010ymi.1_Frame_Shift_Ins_p.P162fs	p.P201fs	NM_005253	NP_005244	P15408	FOSL2_HUMAN			4	1412_1413	+	Acute lymphoblastic leukemia(172;0.155)		201_202					B2RD58|B3KP27|B4DYV4|Q6FG46	Frame_Shift_Ins	INS	ENST00000264716.4	37	c.603_604insCCAG	CCDS1766.1																																																																																				0.644	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		11	77	NA	NA	NA	NA	11	77	---	---	---	---
CLCN2	1181	broad.mit.edu	37	3	184079208	184079221	+	Frame_Shift_Del	DEL	GGTCTGCTCGTACT	GGTCTGCTCGTACT	-	rs143436017		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:184079208_184079221delGGTCTGCTCGTACT	ENST00000265593.4	-	1	218_231	c.47_60delAGTACGAGCAGACC	c.(46-60)cagtacgagcagaccfs	p.QYEQT16fs	POLR2H_ENST00000452961.1_5'Flank|POLR2H_ENST00000443489.1_5'Flank|POLR2H_ENST00000296223.3_5'Flank|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Frame_Shift_Del_p.QYEQT16fs|POLR2H_ENST00000438240.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000430783.1_5'Flank|POLR2H_ENST00000456318.1_5'Flank|POLR2H_ENST00000429568.1_5'Flank|CLCN2_ENST00000344937.7_Frame_Shift_Del_p.QYEQT16fs|CLCN2_ENST00000434054.2_Frame_Shift_Del_p.QYEQT16fs	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	16					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CACTTACCAGGGTCTGCTCGTACTGCAGCGCCCG	0.692																																						uc003foi.2		NA																	0					0						c.(46-60)CAGTACGAGCAGACCfs		chloride channel 2	Lubiprostone(DB01046)																																			SO:0001589	frameshift_variant	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184079208_184079221delGGTCTGCTCGTACT	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.47_60delAGTACGAGCAGACC	3.37:g.184079208_184079221delGGTCTGCTCGTACT	ENSP00000265593:p.Gln16fs					CLCN2_uc010hya.1_Frame_Shift_Del_p.Q16fs|CLCN2_uc011brl.1_Frame_Shift_Del_p.Q16fs|CLCN2_uc011brm.1_Frame_Shift_Del_p.Q16fs|CLCN2_uc011brn.1_Frame_Shift_Del_p.Q16fs|POLR2H_uc003foj.1_5'Flank|POLR2H_uc003fok.1_5'Flank	p.Q16fs	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	171_184	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		16_20			Cytoplasmic (By similarity).		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Frame_Shift_Del	DEL	ENST00000265593.4	37	c.47_60delAGTACGAGCAGACC	CCDS3263.1																																																																																				0.692	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			9	56	NA	NA	NA	NA	9	56	---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92927775	92927775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:92927775delC	ENST00000373079.3	-	1	792	c.529delG	c.(529-531)gtgfs	p.V177fs	FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Frame_Shift_Del_p.V170fs	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	177	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TTATCCTGCACCTCCTCATCA	0.453																																						uc004efq.2		NA																	0				ovary(1)|skin(1)	2						c.(529-531)GTGfs		nucleosome assembly protein 1-like 3							83.0	69.0	74.0					X																	92927775		2203	4299	6502	SO:0001589	frameshift_variant	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927775delC		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.529delG	X.37:g.92927775delC	ENSP00000362171:p.Val177fs					FAM133A_uc004efr.1_5'Flank	p.V177fs	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	834	-			177			Glu-rich.		B2RCM0|O60788	Frame_Shift_Del	DEL	ENST00000373079.3	37	c.529delG	CCDS14465.1																																																																																				0.453	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		27	74	NA	NA	NA	NA	27	74	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117707777	117707778	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:117707777_117707778insT	ENST00000276202.7	+	12	1248_1249	c.1185_1186insT	c.(1186-1188)tttfs	p.F396fs	DOCK11_ENST00000276204.6_Frame_Shift_Ins_p.F396fs	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	396					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGGTTGAGCCCTTTTTTATCAA	0.411																																						uc004eqp.2		NA																	0				ovary(3)	3						c.(1183-1188)CCCTTTfs		dedicator of cytokinesis 11																																				SO:0001589	frameshift_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117707777_117707778insT	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1191dupT	X.37:g.117707783_117707783dupT	ENSP00000276202:p.Phe396fs					DOCK11_uc004eqq.2_Frame_Shift_Ins_p.P161fs	p.P395fs	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			12	1248_1249	+			395_396					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Frame_Shift_Ins	INS	ENST00000276202.7	37	c.1185_1186insT	CCDS35373.1																																																																																				0.411	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		52	137	NA	NA	NA	NA	52	137	---	---	---	---
