#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
TNFRSF4	7293	broad.mit.edu	37	1	1147457	1147457	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:1147457C>A	ENST00000379236.3	-	5	503	c.499G>T	c.(499-501)Gag>Tag	p.E167*	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	167					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCCCTGTCCTCACAGATTGCG	0.662																																						uc001ade.2		NA																	0					0						c.(499-501)GAG>TAG		tumor necrosis factor receptor superfamily,							29.0	29.0	29.0					1																	1147457		2202	4299	6501	SO:0001587	stop_gained	7293				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1147457C>A	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.499G>T	1.37:g.1147457C>A	ENSP00000368538:p.Glu167*					TNFRSF4_uc001adf.2_Nonsense_Mutation_p.E171*	p.E167*	NM_003327	NP_003318	P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	5	504	-	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)	167			TNFR-Cys 4.|Extracellular (Potential).		Q13663|Q2M312|Q5T7M0	Nonsense_Mutation	SNP	ENST00000379236.3	37	c.499G>T	CCDS11.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.81|12.81	2.048063|2.048063	0.36085|0.36085	.|.	.|.	ENSG00000186827|ENSG00000186827	ENST00000379236|ENST00000453580	.|.	.|.	.|.	3.79|3.79	3.79|3.79	0.43588|0.43588	.|.	2.830310|.	0.01660|.	N|.	0.025059|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.27785|.	T|.	0.31|.	-33.9733|-33.9733	13.5109|13.5109	0.61511|0.61511	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	167|112	.|.	ENSP00000368538:E167X|.	E|X	-|-	1|2	0|2	TNFRSF4|TNFRSF4	1137320|1137320	0.144000|0.144000	0.22641|0.22641	1.000000|1.000000	0.80357|0.80357	0.199000|0.199000	0.23934|0.23934	3.611000|3.611000	0.54132|0.54132	2.112000|2.112000	0.64535|0.64535	0.491000|0.491000	0.48974|0.48974	GAG|TGA		0.662	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1			6	18	1	0	0.00198382	0.00204096	6	18				
CCDC27	148870	broad.mit.edu	37	1	3679939	3679939	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:3679939G>A	ENST00000294600.2	+	7	1306	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	408	Glu-rich.									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)		CGAGTCGTTTGAGGAGGAGCT	0.612																																						uc001akv.2		NA																	0				skin(1)	1						c.(1222-1224)GAG>AAG		coiled-coil domain containing 27							62.0	63.0	63.0					1																	3679939		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3679939G>A		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.1222G>A	1.37:g.3679939G>A	ENSP00000294600:p.Glu408Lys						p.E408K	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)	7	1303	+	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)	408			Glu-rich.		Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.1222G>A	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132410	0.37630	.	.	ENSG00000162592	ENST00000294600	T	0.22743	1.94	4.34	3.41	0.39046	.	0.109676	0.40385	N	0.001105	T	0.30541	0.0768	L	0.36672	1.1	0.09310	N	1	D	0.89917	1.0	D	0.72338	0.977	T	0.04165	-1.0972	10	0.33141	T	0.24	-26.0419	9.1798	0.37134	0.1068:0.0:0.8932:0.0	.	408	Q2M243	CCD27_HUMAN	K	408	ENSP00000294600:E408K	ENSP00000294600:E408K	E	+	1	0	CCDC27	3669799	0.961000	0.32948	0.039000	0.18376	0.293000	0.27360	1.751000	0.38339	1.122000	0.41944	0.462000	0.41574	GAG		0.612	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		4	26	0	0	0	0	4	26				
CLSTN1	22883	broad.mit.edu	37	1	9795145	9795145	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:9795145C>G	ENST00000377298.4	-	14	2763	c.1971G>C	c.(1969-1971)ctG>ctC	p.L657L	CLSTN1_ENST00000377288.3_Silent_p.L638L|CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000361311.4_Silent_p.L647L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	657					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GGACGCCACTCAGGCTGATCT	0.542																																						uc001aqh.2		NA																	0				skin(1)	1						c.(1969-1971)CTG>CTC		calsyntenin 1 isoform 1							131.0	140.0	137.0					1																	9795145		2203	4300	6503	SO:0001819	synonymous_variant	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9795145C>G	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1971G>C	1.37:g.9795145C>G						CLSTN1_uc001aqi.2_Silent_p.L647L|CLSTN1_uc010oag.1_Silent_p.L638L|CLSTN1_uc001aqf.2_5'Flank	p.L657L	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	14	2730	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	657			Extracellular (Potential).		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	37	c.1971G>C	CCDS30580.1																																																																																				0.542	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			29	112	0	0	0	0	29	112				
TARDBP	23435	broad.mit.edu	37	1	11077026	11077026	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:11077026G>A	ENST00000240185.3	+	3	478	c.364G>A	c.(364-366)Gag>Aag	p.E122K	TARDBP_ENST00000315091.3_Missense_Mutation_p.E122K|TARDBP_ENST00000439080.2_Intron	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	122	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GGACCTGAAAGAGTATTTTAG	0.383																																						uc001art.2		NA																	0				ovary(2)	2						c.(364-366)GAG>AAG		TAR DNA binding protein							118.0	119.0	119.0					1																	11077026		2203	4300	6503	SO:0001583	missense	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11077026G>A	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.364G>A	1.37:g.11077026G>A	ENSP00000240185:p.Glu122Lys					TARDBP_uc010oap.1_Intron	p.E122K	NM_007375	NP_031401	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	3	498	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	122	Missing: Completely abolishes RNA binding.		RRM 1.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	c.364G>A	CCDS122.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988517	0.74589	.	.	ENSG00000120948	ENST00000240185;ENST00000315091	D;D	0.85556	-2.0;-2.0	5.44	5.44	0.79542	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.187679	0.56097	D	0.000025	T	0.76111	0.3942	N	0.08118	0	0.80722	D	1	B	0.23990	0.095	B	0.32149	0.141	T	0.70749	-0.4787	10	0.27082	T	0.32	-19.321	19.2671	0.93993	0.0:0.0:1.0:0.0	.	122	Q13148	TADBP_HUMAN	K	122	ENSP00000240185:E122K;ENSP00000313129:E122K	ENSP00000240185:E122K	E	+	1	0	TARDBP	10999613	1.000000	0.71417	0.550000	0.28217	0.984000	0.73092	9.525000	0.98039	2.542000	0.85734	0.467000	0.42956	GAG		0.383	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		21	78	0	0	0	0	21	78				
C1orf158	93190	broad.mit.edu	37	1	12819396	12819396	+	Missense_Mutation	SNP	G	G	C	rs148059585		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:12819396G>C	ENST00000288048.5	+	3	595	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	C1orf158_ENST00000376210.3_Missense_Mutation_p.E89Q	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	127										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGCTGCCAGAGAAGTCTGA	0.522																																						uc001auh.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(379-381)GAG>CAG		hypothetical protein LOC93190							87.0	89.0	89.0					1																	12819396		2203	4300	6503	SO:0001583	missense	93190							g.chr1:12819396G>C	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.379G>C	1.37:g.12819396G>C	ENSP00000288048:p.Glu127Gln					C1orf158_uc010obe.1_Missense_Mutation_p.E127Q	p.E127Q	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	595	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	127					Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	37	c.379G>C	CCDS147.1	.	.	.	.	.	.	.	.	.	.	.	15.85	2.955979	0.53293	.	.	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.60797	0.27;0.16	5.69	5.69	0.88448	.	0.057289	0.64402	D	0.000003	T	0.73830	0.3637	M	0.68317	2.08	0.47009	D	0.999285	P;D	0.89917	0.946;1.0	P;D	0.87578	0.706;0.998	T	0.73279	-0.4033	10	0.46703	T	0.11	-32.5082	15.3119	0.74039	0.0:0.0:1.0:0.0	.	127;127	B4DQE0;Q8N1D5	.;CA158_HUMAN	Q	127;89	ENSP00000288048:E127Q;ENSP00000365383:E89Q	ENSP00000288048:E127Q	E	+	1	0	C1orf158	12741983	0.998000	0.40836	0.982000	0.44146	0.224000	0.24922	3.152000	0.50677	2.684000	0.91462	0.655000	0.94253	GAG		0.522	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		13	50	0	0	0	0	13	50				
PRAMEF12	390999	broad.mit.edu	37	1	12837643	12837643	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:12837643C>T	ENST00000357726.4	+	3	1380	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	451					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTATTGTGTTCAGCACTGTCC	0.527																																						uc001aui.2		NA																	0				ovary(3)	3						c.(1351-1353)TTC>TTT		PRAME family member 12							123.0	124.0	123.0					1																	12837643		2203	4300	6503	SO:0001819	synonymous_variant	390999							g.chr1:12837643C>T		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1353C>T	1.37:g.12837643C>T							p.F451F	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1380	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	451						Silent	SNP	ENST00000357726.4	37	c.1353C>T	CCDS41254.1																																																																																				0.527	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		25	73	0	0	0	0	25	73				
AGMAT	79814	broad.mit.edu	37	1	15904338	15904338	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:15904338C>T	ENST00000375826.3	-	5	884	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	248					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCAGTCTTCAGCCAGGACT	0.537																																					NSCLC(126;1678 1780 25805 43508 49531)	uc001awv.1		NA																	0				skin(1)	1						c.(742-744)GAA>AAA		agmatine ureohydrolase (agmatinase) precursor							65.0	60.0	62.0					1																	15904338		2203	4300	6503	SO:0001583	missense	79814				putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding	g.chr1:15904338C>T	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.742G>A	1.37:g.15904338C>T	ENSP00000364986:p.Glu248Lys					DNAJC16_uc001awu.2_Intron	p.E248K	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)	5	885	-		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	248					Q5TDH1|Q9H5J3	Missense_Mutation	SNP	ENST00000375826.3	37	c.742G>A	CCDS160.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677701	0.88445	.	.	ENSG00000116771	ENST00000375826	D	0.84370	-1.84	5.84	5.84	0.93424	Ureohydrolase domain (1);	0.043933	0.85682	D	0.000000	D	0.84483	0.5482	L	0.46819	1.47	0.58432	D	0.999996	B	0.21606	0.058	B	0.30572	0.117	T	0.80386	-0.1404	10	0.72032	D	0.01	-25.156	19.1261	0.93384	0.0:1.0:0.0:0.0	.	248	Q9BSE5	SPEB_HUMAN	K	248	ENSP00000364986:E248K	ENSP00000364986:E248K	E	-	1	0	AGMAT	15776925	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	6.994000	0.76251	2.937000	0.99478	0.650000	0.86243	GAA		0.537	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758		7	19	0	0	0	0	7	19				
UBR4	23352	broad.mit.edu	37	1	19478158	19478158	+	Missense_Mutation	SNP	C	C	T	rs55848569		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:19478158C>T	ENST00000375254.3	-	48	7219	c.7192G>A	c.(7192-7194)Gat>Aat	p.D2398N	UBR4_ENST00000375226.2_Missense_Mutation_p.D2398N|UBR4_ENST00000375267.2_Missense_Mutation_p.D2398N|UBR4_ENST00000375217.2_Missense_Mutation_p.D2398N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2398					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)		AGCTTCTTATCAGCCTGCAGG	0.537																																						uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(7192-7194)GAT>AAT		retinoblastoma-associated factor 600							106.0	103.0	104.0					1																	19478158		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19478158C>T	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.7192G>A	1.37:g.19478158C>T	ENSP00000364403:p.Asp2398Asn					UBR4_uc001bbk.1_Missense_Mutation_p.D52N|UBR4_uc001bbl.1_Missense_Mutation_p.D335N|UBR4_uc001bbm.1_Missense_Mutation_p.D1610N	p.D2398N	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)	48	7196	-		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)	2398					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.7192G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	34	5.381290	0.95945	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040;ENST00000419533	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.76575	0.988;0.971	T	0.18871	-1.0323	10	0.52906	T	0.07	.	18.7955	0.91993	0.0:1.0:0.0:0.0	.	2399;2398	Q5T4S7-5;Q5T4S7	.;UBR4_HUMAN	N	2398;2398;2398;2398;13;1108;1615	ENSP00000364403:D2398N;ENSP00000364416:D2398N;ENSP00000364365:D2398N;ENSP00000364374:D2398N;ENSP00000404897:D1108N	ENSP00000364365:D2398N	D	-	1	0	UBR4	19350745	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.110000	0.77069	2.686000	0.91538	0.561000	0.74099	GAT		0.537	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		21	54	0	0	0	0	21	54				
PLA2G2F	64600	broad.mit.edu	37	1	20474786	20474786	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:20474786C>T	ENST00000375102.3	+	5	630	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	133					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		ACCGTGGCTTCCTCAATGTCT	0.582																																						uc009vpp.1		NA																	0				ovary(1)	1						c.(526-528)TTC>TTT		phospholipase A2, group IIF							174.0	144.0	154.0					1																	20474786		2203	4300	6503	SO:0001819	synonymous_variant	64600				lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20474786C>T	AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.528C>T	1.37:g.20474786C>T							p.F176F	NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	5	626	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	133					Q5R385|Q8N217|Q9H506	Silent	SNP	ENST00000375102.3	37	c.528C>T	CCDS204.2																																																																																				0.582	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007687.1	NM_022819		8	44	0	0	0	0	8	44				
WNT4	54361	broad.mit.edu	37	1	22456196	22456196	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:22456196C>G	ENST00000290167.6	-	2	269	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	WNT4_ENST00000542383.1_Missense_Mutation_p.E21Q	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	76					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TGGCACTCCTCAATGGCCAGC	0.627																																						uc001bfs.3		NA																	0				ovary(1)	1						c.(226-228)GAG>CAG		wingless-type MMTV integration site family,							105.0	98.0	100.0					1																	22456196		2203	4300	6503	SO:0001583	missense	54361				adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	g.chr1:22456196C>G	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.226G>C	1.37:g.22456196C>G	ENSP00000290167:p.Glu76Gln					WNT4_uc010odt.1_Missense_Mutation_p.E13Q	p.E76Q	NM_030761	NP_110388	P56705	WNT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	2	330	-		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	76					B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Missense_Mutation	SNP	ENST00000290167.6	37	c.226G>C	CCDS223.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.038|9.038	0.988882|0.988882	0.18966|0.18966	.|.	.|.	ENSG00000162552|ENSG00000162552	ENST00000290167;ENST00000542383;ENST00000374655;ENST00000441048|ENST00000415567	T;T;T|.	0.75938|.	-0.98;-0.98;-0.98|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.053151|.	0.85682|.	D|.	0.000000|.	T|.	0.49762|.	0.1576|.	N|N	0.13352|0.13352	0.335|0.335	0.44282|0.44282	D|D	0.997142|0.997142	B|.	0.17852|.	0.024|.	B|.	0.17979|.	0.02|.	T|.	0.45644|.	-0.9247|.	10|.	0.17832|.	T|.	0.49|.	.|.	17.4184|17.4184	0.87507|0.87507	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	76|.	P56705|.	WNT4_HUMAN|.	Q|S	76;21;76;21|50	ENSP00000290167:E76Q;ENSP00000441033:E21Q;ENSP00000388925:E21Q|.	ENSP00000290167:E76Q|.	E|X	-|-	1|2	0|2	WNT4|WNT4	22328783|22328783	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	4.889000|4.889000	0.63171|0.63171	2.443000|2.443000	0.82685|0.82685	0.462000|0.462000	0.41574|0.41574	GAG|TGA		0.627	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			14	40	0	0	0	0	14	40				
FGR	2268	broad.mit.edu	37	1	27942093	27942093	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:27942093C>T	ENST00000374005.3	-	9	1158	c.870G>A	c.(868-870)gtG>gtA	p.V290V	FGR_ENST00000545953.1_Silent_p.V224V|FGR_ENST00000399173.1_Silent_p.V290V|FGR_ENST00000374004.1_Silent_p.V290V	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGCGTCTTCACCGCCACCT	0.682																																						uc001boj.2		NA																	0				skin(2)	2						c.(868-870)GTG>GTA		proto-oncogene tyrosine-protein kinase FGR							66.0	55.0	59.0					1																	27942093		2203	4300	6503	SO:0001819	synonymous_variant	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27942093C>T	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.870G>A	1.37:g.27942093C>T						FGR_uc001boi.2_5'UTR|FGR_uc001bok.2_Silent_p.V290V|FGR_uc001bol.2_Silent_p.V290V|FGR_uc001bom.2_Silent_p.V290V	p.V290V	NM_005248	NP_005239	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	7	1016	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	290			Protein kinase.		D3DPL7|Q9UIQ3	Silent	SNP	ENST00000374005.3	37	c.870G>A	CCDS305.1																																																																																				0.682	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		8	23	0	0	0	0	8	23				
PHACTR4	65979	broad.mit.edu	37	1	28793131	28793131	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:28793131C>T	ENST00000373839.3	+	6	936	c.675C>T	c.(673-675)gtC>gtT	p.V225V	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.V235V	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	225					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTCTCTGTCACCCCTTCCC	0.597																																						uc001bpw.2		NA																	0					0						c.(673-675)GTC>GTT		phosphatase and actin regulator 4 isoform 1							63.0	72.0	69.0					1																	28793131		2142	4238	6380	SO:0001819	synonymous_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28793131C>T	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.675C>T	1.37:g.28793131C>T						PHACTR4_uc001bpu.2_Silent_p.V225V|PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.V209V|PHACTR4_uc001bpy.2_Silent_p.V235V	p.V225V	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	6	957	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	225					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Silent	SNP	ENST00000373839.3	37	c.675C>T	CCDS41293.1																																																																																				0.597	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		11	36	0	0	0	0	11	36				
KPNA6	23633	broad.mit.edu	37	1	32632895	32632895	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:32632895C>G	ENST00000373625.3	+	12	1335	c.1242C>G	c.(1240-1242)atC>atG	p.I414M	KPNA6_ENST00000545542.1_Missense_Mutation_p.I419M|KPNA6_ENST00000537234.1_Missense_Mutation_p.I411M	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	414					maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTGAGCAGATCAGGTATTACA	0.473																																						uc001bug.2		NA																	0					0						c.(1240-1242)ATC>ATG		karyopherin alpha 6							127.0	119.0	122.0					1																	32632895		2203	4300	6503	SO:0001583	missense	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32632895C>G	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.1242C>G	1.37:g.32632895C>G	ENSP00000362728:p.Ile414Met					KPNA6_uc001buh.2_Missense_Mutation_p.I189M|KPNA6_uc010ogx.1_Missense_Mutation_p.I411M|KPNA6_uc010ogy.1_Missense_Mutation_p.I419M|KPNA6_uc009vtz.2_Missense_Mutation_p.I309M	p.I414M	NM_012316	NP_036448	O60684	IMA7_HUMAN			12	1330	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	414			ARM 9.		B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	c.1242C>G	CCDS352.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966404	0.74131	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	T;T;T;T	0.71934	-0.61;-0.61;-0.61;1.8	5.22	3.27	0.37495	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86347	0.5911	H	0.95294	3.65	0.80722	D	1	D;D;D	0.76494	0.984;0.999;0.991	D;D;D	0.72338	0.938;0.977;0.945	D	0.86640	0.1891	10	0.87932	D	0	-14.0761	8.4023	0.32594	0.2798:0.6495:0.0:0.0708	.	419;419;414	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	M	414;344;411;419;321	ENSP00000362728:I414M;ENSP00000444930:I411M;ENSP00000440609:I419M;ENSP00000415677:I321M	ENSP00000362719:I344M	I	+	3	3	KPNA6	32405482	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.676000	0.37565	0.803000	0.34113	0.643000	0.83706	ATC		0.473	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		22	79	0	0	0	0	22	79				
YARS	8565	broad.mit.edu	37	1	33263435	33263435	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:33263435C>T	ENST00000373477.4	-	5	1428	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	174					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AAATACTCTTCATCCAAAGCC	0.423																																						uc001bvy.1		NA																	0				skin(2)	2						c.(520-522)GAA>AAA		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						94.0	87.0	89.0					1																	33263435		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33263435C>T	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.520G>A	1.37:g.33263435C>T	ENSP00000362576:p.Glu174Lys						p.E174K	NM_003680	NP_003671	P54577	SYYC_HUMAN			5	1308	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	174					B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.520G>A	CCDS368.1	.	.	.	.	.	.	.	.	.	.	C	35	5.563268	0.96527	.	.	ENSG00000134684	ENST00000373477	T	0.52526	0.66	4.94	4.94	0.65067	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.78773	0.4336	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84553	0.0645	10	0.56958	D	0.05	-21.2407	18.6592	0.91467	0.0:1.0:0.0:0.0	.	174	P54577	SYYC_HUMAN	K	174	ENSP00000362576:E174K	ENSP00000362576:E174K	E	-	1	0	YARS	33036022	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.186000	0.77722	2.697000	0.92050	0.655000	0.94253	GAA		0.423	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		13	31	0	0	0	0	13	31				
ZC3H12A	80149	broad.mit.edu	37	1	37941518	37941518	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:37941518G>C	ENST00000373087.6	+	2	537	c.421G>C	c.(421-423)Gat>Cat	p.D141H	RP11-422J8.1_ENST00000424989.1_RNA	NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGGTCATCGATGGGAGCAA	0.592																																						uc001cbb.3		NA																	0				ovary(2)	2						c.(421-423)GAT>CAT		zinc finger CCCH-type containing 12A							29.0	22.0	24.0					1																	37941518		2193	4279	6472	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37941518G>C		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.421G>C	1.37:g.37941518G>C	ENSP00000362179:p.Asp141His						p.D141H	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN			2	571	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	141						Missense_Mutation	SNP	ENST00000373087.6	37	c.421G>C	CCDS417.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408398	0.62399	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.72725	-0.68	4.8	4.8	0.61643	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	D	0.89406	0.6706	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93137	0.6538	10	0.87932	D	0	-22.8408	17.8423	0.88718	0.0:0.0:1.0:0.0	.	141	Q5D1E8	ZC12A_HUMAN	H	141	ENSP00000362179:D141H	ENSP00000362174:D141H	D	+	1	0	ZC3H12A	37714105	1.000000	0.71417	0.986000	0.45419	0.051000	0.14879	9.398000	0.97281	2.200000	0.70718	0.563000	0.77884	GAT		0.592	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		5	8	0	0	0	0	5	8				
GNL2	29889	broad.mit.edu	37	1	38040301	38040301	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:38040301C>G	ENST00000373062.3	-	11	1365	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	423					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GCGAGCTTCTCAAGAAAGTCC	0.428																																						uc001cbk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1267-1269)GAG>CAG		guanine nucleotide binding protein-like 2							82.0	76.0	78.0					1																	38040301		2203	4300	6503	SO:0001583	missense	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38040301C>G	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1267G>C	1.37:g.38040301C>G	ENSP00000362153:p.Glu423Gln						p.E423Q	NM_013285	NP_037417	Q13823	NOG2_HUMAN			11	1430	-		Myeloproliferative disorder(586;0.0393)	423					Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	c.1267G>C	CCDS421.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094147	0.94149	.	.	ENSG00000134697	ENST00000373062	T	0.14022	2.54	5.87	5.87	0.94306	GTP-binding protein, orthogonal bundle domain (1);	0.087254	0.85682	D	0.000000	T	0.41488	0.1161	M	0.77616	2.38	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.02391	-1.1166	10	0.38643	T	0.18	-27.519	20.5827	0.99408	0.0:1.0:0.0:0.0	.	423	Q13823	NOG2_HUMAN	Q	423	ENSP00000362153:E423Q	ENSP00000362153:E423Q	E	-	1	0	GNL2	37812888	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.744000	0.85034	2.941000	0.99782	0.655000	0.94253	GAG		0.428	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		18	28	0	0	0	0	18	28				
MTF1	4520	broad.mit.edu	37	1	38323027	38323027	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:38323027G>C	ENST00000373036.4	-	2	444	c.304C>G	c.(304-306)Cag>Gag	p.Q102E	MTF1_ENST00000468190.1_5'UTR	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	102					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAATGAATCTGATCTGGTGAG	0.453																																						uc001cce.1		NA																	0				ovary(1)|pancreas(1)	2						c.(304-306)CAG>GAG		metal-regulatory transcription factor 1							180.0	153.0	162.0					1																	38323027		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38323027G>C	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.304C>G	1.37:g.38323027G>C	ENSP00000362127:p.Gln102Glu					MTF1_uc009vvj.1_Translation_Start_Site	p.Q102E	NM_005955	NP_005946	Q14872	MTF1_HUMAN			2	445	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	102					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.304C>G	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817988	0.71028	.	.	ENSG00000188786	ENST00000373036	T	0.10573	2.86	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.12944	0.0314	L	0.36672	1.1	0.58432	D	0.999993	B	0.21381	0.055	B	0.20767	0.031	T	0.04678	-1.0934	10	0.52906	T	0.07	.	19.9295	0.97114	0.0:0.0:1.0:0.0	.	102	Q14872	MTF1_HUMAN	E	102	ENSP00000362127:Q102E	ENSP00000362127:Q102E	Q	-	1	0	MTF1	38095614	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.695000	0.91970	0.655000	0.94253	CAG		0.453	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		19	63	0	0	0	0	19	63				
EBNA1BP2	10969	broad.mit.edu	37	1	43630388	43630388	+	Missense_Mutation	SNP	C	C	T	rs181497889		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:43630388C>T	ENST00000236051.2	-	8	937	c.796G>A	c.(796-798)Gat>Aat	p.D266N	EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.D321N	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	266					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATACATCATCATAGCTCTCC	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20358	0.0		0.001	False		,,,				2504	0.0					uc001cin.2		NA																	0					0						c.(796-798)GAT>AAT		EBNA1 binding protein 2 isoform 2							88.0	84.0	85.0					1																	43630388		2203	4300	6503	SO:0001583	missense	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43630388C>T	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.796G>A	1.37:g.43630388C>T	ENSP00000236051:p.Asp266Asn					EBNA1BP2_uc001cio.2_Missense_Mutation_p.D321N|EBNA1BP2_uc001cim.2_Missense_Mutation_p.D161N|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.D321N	p.D266N	NM_006824	NP_006815	Q99848	EBP2_HUMAN			8	993	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	266					Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	c.796G>A	CCDS478.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	3.884	-0.025428	0.07589	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.39229	1.09;1.09	5.49	2.47	0.30058	.	0.143577	0.64402	D	0.000008	T	0.12518	0.0304	N	0.02225	-0.63	0.44890	D	0.997901	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.22173	-1.0224	10	0.02654	T	1	-9.2444	4.1858	0.10397	0.0:0.3646:0.4318:0.2036	.	266;266	Q6IB29;Q99848	.;EBP2_HUMAN	N	321;266	ENSP00000407323:D321N;ENSP00000236051:D266N	ENSP00000236051:D266N	D	-	1	0	EBNA1BP2	43402975	1.000000	0.71417	0.995000	0.50966	0.722000	0.41435	1.833000	0.39161	0.629000	0.30376	0.289000	0.19496	GAT		0.502	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			13	57	0	0	0	0	13	57				
PTPRF	5792	broad.mit.edu	37	1	44069508	44069508	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:44069508G>A	ENST00000359947.4	+	16	3025	c.2685G>A	c.(2683-2685)aaG>aaA	p.K895K	PTPRF_ENST00000372413.3_Silent_p.K886K|PTPRF_ENST00000422171.2_Silent_p.K243K|PTPRF_ENST00000372414.3_Silent_p.K895K|PTPRF_ENST00000438120.1_Silent_p.K886K|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	895	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGCTGCCAAGAACCGGGCTG	0.607																																						uc001cjr.2		NA																	0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(2683-2685)AAG>AAA		protein tyrosine phosphatase, receptor type, F							54.0	57.0	56.0					1																	44069508		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44069508G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2685G>A	1.37:g.44069508G>A						PTPRF_uc001cjs.2_Silent_p.K886K|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Silent_p.K455K|PTPRF_uc001cjv.2_Silent_p.K355K|PTPRF_uc001cjw.2_Silent_p.K121K	p.K895K	NM_002840	NP_002831	P10586	PTPRF_HUMAN			16	3025	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	895			Extracellular (Potential).|Fibronectin type-III 6.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.2685G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.403|3.403	-0.121913|-0.121913	0.06795|0.06795	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000414879|ENST00000429895	.|.	.|.	.|.	5.03|5.03	4.11|4.11	0.48088|0.48088	.|.	.|.	.|.	.|.	.|.	T|T	0.60077|0.60077	0.2241|0.2241	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57370|0.57370	-0.7823|-0.7823	4|4	.|.	.|.	.|.	.|.	9.9571|9.9571	0.41673|0.41673	0.156:0.0:0.844:0.0|0.156:0.0:0.844:0.0	.|.	.|.	.|.	.|.	K|K	309|541	.|.	.|.	E|R	+|+	1|2	0|0	PTPRF|PTPRF	43842095|43842095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.481000|0.481000	0.33189|0.33189	1.900000|1.900000	0.39828|0.39828	1.249000|1.249000	0.43950|0.43950	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.607	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			11	26	0	0	0	0	11	26				
PTPRF	5792	broad.mit.edu	37	1	44069632	44069632	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:44069632G>T	ENST00000359947.4	+	16	3149	c.2809G>T	c.(2809-2811)Gac>Tac	p.D937Y	PTPRF_ENST00000372413.3_Missense_Mutation_p.D928Y|PTPRF_ENST00000422171.2_Missense_Mutation_p.D285Y|PTPRF_ENST00000372414.3_Missense_Mutation_p.D937Y|PTPRF_ENST00000438120.1_Missense_Mutation_p.D928Y|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	937	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACTGGCCTGGGACCCGCCAGT	0.602																																						uc001cjr.2		NA																	0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(2809-2811)GAC>TAC		protein tyrosine phosphatase, receptor type, F							56.0	53.0	54.0					1																	44069632		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44069632G>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2809G>T	1.37:g.44069632G>T	ENSP00000353030:p.Asp937Tyr					PTPRF_uc001cjs.2_Missense_Mutation_p.D928Y|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Missense_Mutation_p.D497Y|PTPRF_uc001cjv.2_Missense_Mutation_p.D397Y|PTPRF_uc001cjw.2_Missense_Mutation_p.D163Y	p.D937Y	NM_002840	NP_002831	P10586	PTPRF_HUMAN			16	3149	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	937			Fibronectin type-III 7.|Extracellular (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.2809G>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.56|19.56	3.850932|3.850932	0.71719|0.71719	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171|ENST00000414879	T;T;T;T;T|.	0.58358|.	0.34;0.34;0.34;0.34;0.34|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.216462|.	0.23254|.	N|.	0.050206|.	T|T	0.81361|0.81361	0.4806|0.4806	M|M	0.91406|0.91406	3.205|3.205	0.58432|0.58432	D|D	0.999992|0.999992	D;P;D;D|.	0.64830|.	0.985;0.942;0.994;0.976|.	P;P;P;P|.	0.62649|.	0.905;0.724;0.878;0.879|.	D|D	0.85154|0.85154	0.0988|0.0988	10|5	0.72032|.	D|.	0.01|.	.|.	13.4321|13.4321	0.61062|0.61062	0.0755:0.0:0.9245:0.0|0.0755:0.0:0.9245:0.0	.|.	582;285;928;937|.	Q59FI2;F2Z3B8;P10586-2;P10586|.	.;.;.;PTPRF_HUMAN|.	Y|V	937;928;937;928;285|350	ENSP00000353030:D937Y;ENSP00000398822:D928Y;ENSP00000361491:D937Y;ENSP00000361490:D928Y;ENSP00000387885:D285Y|.	ENSP00000353030:D937Y|.	D|G	+|+	1|2	0|0	PTPRF|PTPRF	43842219|43842219	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.788000|4.788000	0.62439|0.62439	2.586000|2.586000	0.87340|0.87340	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.602	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			9	21	1	0	1.13e-05	1.19e-05	9	21				
PTPRF	5792	broad.mit.edu	37	1	44069731	44069731	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:44069731G>C	ENST00000359947.4	+	16	3248	c.2908G>C	c.(2908-2910)Gac>Cac	p.D970H	PTPRF_ENST00000372413.3_Missense_Mutation_p.D961H|PTPRF_ENST00000422171.2_Missense_Mutation_p.D318H|PTPRF_ENST00000372414.3_Missense_Mutation_p.D970H|PTPRF_ENST00000438120.1_Missense_Mutation_p.D961H|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	970	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATCACGACAGACACCCGCTT	0.597																																						uc001cjr.2		NA																	0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(2908-2910)GAC>CAC		protein tyrosine phosphatase, receptor type, F							148.0	118.0	128.0					1																	44069731		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44069731G>C	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2908G>C	1.37:g.44069731G>C	ENSP00000353030:p.Asp970His					PTPRF_uc001cjs.2_Missense_Mutation_p.D961H|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Missense_Mutation_p.D530H|PTPRF_uc001cjv.2_Missense_Mutation_p.D430H|PTPRF_uc001cjw.2_Missense_Mutation_p.D196H	p.D970H	NM_002840	NP_002831	P10586	PTPRF_HUMAN			16	3248	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	970			Fibronectin type-III 7.|Extracellular (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.2908G>C	CCDS489.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	8.302|8.302|8.302	0.820222|0.820222|0.820222	0.16678|0.16678|0.16678	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171|ENST00000429895|ENST00000414879	T;T;T;T;T|.|.	0.57907|.|.	0.37;0.37;0.37;0.37;0.37|.|.	5.05|5.05|5.05	3.15|3.15|3.15	0.36227|0.36227|0.36227	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.|.	0.215569|.|.	0.23373|.|.	N|.|.	0.048889|.|.	T|T|T	0.61540|0.61540|0.61540	0.2355|0.2355|0.2355	L|L|L	0.56340|0.56340|0.56340	1.77|1.77|1.77	0.54753|0.54753|0.54753	D|D|D	0.999986|0.999986|0.999986	P;B;D;D|.|.	0.69078|.|.	0.851;0.002;0.997;0.991|.|.	P;B;D;D|.|.	0.66979|.|.	0.726;0.009;0.948;0.933|.|.	T|T|T	0.59947|0.59947|0.59947	-0.7358|-0.7358|-0.7358	10|5|5	0.56958|.|.	D|.|.	0.05|.|.	.|.|.	12.2934|12.2934|12.2934	0.54831|0.54831|0.54831	0.1467:0.0:0.8533:0.0|0.1467:0.0:0.8533:0.0|0.1467:0.0:0.8533:0.0	.|.|.	615;318;961;970|.|.	Q59FI2;F2Z3B8;P10586-2;P10586|.|.	.;.;.;PTPRF_HUMAN|.|.	H|H|T	970;961;970;961;318|615|383	ENSP00000353030:D970H;ENSP00000398822:D961H;ENSP00000361491:D970H;ENSP00000361490:D961H;ENSP00000387885:D318H|.|.	ENSP00000353030:D970H|.|.	D|Q|R	+|+|+	1|3|2	0|2|0	PTPRF|PTPRF|PTPRF	43842318|43842318|43842318	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.055000|0.055000|0.055000	0.19348|0.19348|0.19348	0.040000|0.040000|0.040000	0.13550|0.13550|0.13550	4.001000|4.001000|4.001000	0.57046|0.57046|0.57046	1.261000|1.261000|1.261000	0.44149|0.44149|0.44149	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAC|CAG|AGA		0.597	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			20	59	0	0	0	0	20	59				
B4GALT2	8704	broad.mit.edu	37	1	44456097	44456097	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:44456097C>T	ENST00000356836.6	+	7	1886	c.1096C>T	c.(1096-1098)Ccg>Tcg	p.P366S	B4GALT2_ENST00000434555.2_Missense_Mutation_p.P300S|B4GALT2_ENST00000372324.1_Missense_Mutation_p.P366S|CCDC24_ENST00000372318.3_5'Flank|B4GALT2_ENST00000309519.7_Missense_Mutation_p.P395S	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	366					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	TGGGCGGCCTCCGTCGTGGCC	0.617																																						uc001clg.2		NA																	0				ovary(1)|skin(1)	2						c.(1096-1098)CCG>TCG		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)						117.0	120.0	119.0					1																	44456097		2203	4300	6503	SO:0001583	missense	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44456097C>T	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.1096C>T	1.37:g.44456097C>T	ENSP00000349293:p.Pro366Ser					B4GALT2_uc001clh.2_Missense_Mutation_p.P300S|B4GALT2_uc010okl.1_Missense_Mutation_p.P395S|B4GALT2_uc001cli.2_Missense_Mutation_p.P366S|CCDC24_uc001clj.2_5'Flank|CCDC24_uc001clk.2_5'Flank|CCDC24_uc009vxc.2_5'Flank	p.P366S	NM_003780	NP_003771	O60909	B4GT2_HUMAN			7	1466	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	366			Lumenal (Potential).		B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	c.1096C>T	CCDS506.1	.	.	.	.	.	.	.	.	.	.	C	9.865	1.197278	0.22037	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	T;T;T;T	0.46063	0.92;0.93;0.92;0.88	5.29	3.35	0.38373	.	0.320352	0.33309	N	0.005044	T	0.34687	0.0906	L	0.38649	1.16	0.51767	D	0.999939	B;B;B	0.26635	0.155;0.014;0.001	B;B;B	0.24155	0.051;0.008;0.001	T	0.19614	-1.0300	10	0.72032	D	0.01	-4.709	14.3533	0.66719	0.278:0.722:0.0:0.0	.	395;300;366	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	S	366;300;366;395	ENSP00000361399:P366S;ENSP00000407468:P300S;ENSP00000349293:P366S;ENSP00000310696:P395S	ENSP00000310696:P395S	P	+	1	0	B4GALT2	44228684	0.996000	0.38824	0.515000	0.27774	0.065000	0.16274	4.032000	0.57274	0.673000	0.31224	0.543000	0.68304	CCG		0.617	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		26	99	0	0	0	0	26	99				
B4GALT2	8704	broad.mit.edu	37	1	44456112	44456112	+	Silent	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:44456112C>A	ENST00000356836.6	+	7	1901	c.1111C>A	c.(1111-1113)Cgg>Agg	p.R371R	B4GALT2_ENST00000434555.2_Silent_p.R305R|B4GALT2_ENST00000372324.1_Silent_p.R371R|CCDC24_ENST00000372318.3_5'Flank|B4GALT2_ENST00000309519.7_Silent_p.R400R	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	371					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GTGGCCCCCTCGGGGCTGACA	0.622																																						uc001clg.2		NA																	0				ovary(1)|skin(1)	2						c.(1111-1113)CGG>AGG		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)						98.0	102.0	101.0					1																	44456112		2203	4300	6503	SO:0001819	synonymous_variant	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44456112C>A	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.1111C>A	1.37:g.44456112C>A						B4GALT2_uc001clh.2_Silent_p.R305R|B4GALT2_uc010okl.1_Silent_p.R400R|B4GALT2_uc001cli.2_Silent_p.R371R|CCDC24_uc001clj.2_5'Flank|CCDC24_uc001clk.2_5'Flank|CCDC24_uc009vxc.2_5'Flank	p.R371R	NM_003780	NP_003771	O60909	B4GT2_HUMAN			7	1481	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	371			Lumenal (Potential).		B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Silent	SNP	ENST00000356836.6	37	c.1111C>A	CCDS506.1																																																																																				0.622	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		16	81	1	0	0.000566183	0.000588851	16	81				
LRRC42	115353	broad.mit.edu	37	1	54426051	54426051	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:54426051G>A	ENST00000371370.3	+	5	1149	c.628G>A	c.(628-630)Gat>Aat	p.D210N	LRRC42_ENST00000319223.4_Missense_Mutation_p.D210N	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	210										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CCACCTGAAGGATAATTGTTT	0.373																																						uc001cwj.1		NA																	0					0						c.(628-630)GAT>AAT		leucine rich repeat containing 42							137.0	135.0	136.0					1																	54426051		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54426051G>A	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.628G>A	1.37:g.54426051G>A	ENSP00000360421:p.Asp210Asn					LRRC42_uc001cwl.1_Missense_Mutation_p.D210N|LRRC42_uc001cwk.1_Missense_Mutation_p.D210N|LRRC42_uc009vzm.1_Missense_Mutation_p.D210N	p.D210N	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN			4	828	+			210			LRR 3.		D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.628G>A	CCDS585.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925601	0.92319	.	.	ENSG00000116212	ENST00000371370;ENST00000319223;ENST00000444987	T;T;T	0.28666	5.58;5.58;1.6	5.85	5.85	0.93711	.	0.160957	0.53938	D	0.000047	T	0.44008	0.1273	L	0.27053	0.805	0.53688	D	0.999976	D;D	0.76494	0.999;0.999	D;D	0.68943	0.961;0.915	T	0.07009	-1.0795	10	0.28530	T	0.3	-18.8698	20.5471	0.99284	0.0:0.0:1.0:0.0	.	210;210	E7EP35;Q9Y546	.;LRC42_HUMAN	N	210	ENSP00000360421:D210N;ENSP00000318185:D210N;ENSP00000389368:D210N	ENSP00000318185:D210N	D	+	1	0	LRRC42	54198639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.703000	0.74633	2.941000	0.99782	0.655000	0.94253	GAT		0.373	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		32	62	0	0	0	0	32	62				
HOOK1	51361	broad.mit.edu	37	1	60334000	60334000	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:60334000G>C	ENST00000371208.3	+	20	2181	c.1924G>C	c.(1924-1926)Gag>Cag	p.E642Q	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.E600Q	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	642					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GGCAGAGAAAGAGAGAAGAAT	0.303																																						uc009wad.2		NA																	0				ovary(1)|breast(1)	2						c.(1924-1926)GAG>CAG		hook homolog 1							56.0	65.0	62.0					1																	60334000		2203	4299	6502	SO:0001583	missense	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60334000G>C	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1924G>C	1.37:g.60334000G>C	ENSP00000360252:p.Glu642Gln					HOOK1_uc001czo.2_Missense_Mutation_p.E642Q|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.E600Q	p.E642Q	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			21	2026	+	all_cancers(7;0.000129)		642			Potential.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.1924G>C	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993369	0.93167	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.19105	2.17;2.17	5.99	5.99	0.97316	.	0.241908	0.47093	D	0.000248	T	0.31451	0.0797	L	0.39898	1.24	0.58432	D	0.999995	P	0.45126	0.851	P	0.52627	0.704	T	0.00505	-1.1700	10	0.15952	T	0.53	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	642	Q9UJC3	HOOK1_HUMAN	Q	642;600	ENSP00000360252:E642Q;ENSP00000378928:E600Q	ENSP00000360252:E642Q	E	+	1	0	HOOK1	60106588	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.837000	0.92110	2.840000	0.97914	0.655000	0.94253	GAG		0.303	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		11	37	0	0	0	0	11	37				
KANK4	163782	broad.mit.edu	37	1	62703988	62703988	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:62703988C>T	ENST00000371153.4	-	10	3327	c.2949G>A	c.(2947-2949)ctG>ctA	p.L983L	KANK4_ENST00000317477.4_Silent_p.L121L|KANK4_ENST00000354381.3_Silent_p.L355L|KANK4_ENST00000371150.1_Silent_p.L339L	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	983						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CGTGGGCTCTCAGAAGCCCAG	0.557																																						uc001dah.3		NA																	0				ovary(3)|skin(2)|lung(1)	6						c.(2947-2949)CTG>CTA		ankyrin repeat domain 38							42.0	45.0	44.0					1																	62703988		2203	4300	6503	SO:0001819	synonymous_variant	163782							g.chr1:62703988C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2949G>A	1.37:g.62703988C>T						KANK4_uc001dai.3_Silent_p.L355L|KANK4_uc001daf.3_Silent_p.L121L|KANK4_uc001dag.3_Silent_p.L339L	p.L983L	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			10	3326	-			983			ANK 5.		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	c.2949G>A	CCDS620.1																																																																																				0.557	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		7	29	0	0	0	0	7	29				
TCTEX1D1	200132	broad.mit.edu	37	1	67236139	67236139	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:67236139G>A	ENST00000282670.2	+	3	317	c.189G>A	c.(187-189)caG>caA	p.Q63Q	TCTEX1D1_ENST00000491611.1_3'UTR	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	63										large_intestine(2)|lung(10)|skin(1)	13						TTACAGTTCAGATGGAAAACA	0.348																																						uc001dcv.2		NA																	0					0						c.(187-189)CAG>CAA		Tctex1 domain containing 1							187.0	180.0	182.0					1																	67236139		2203	4300	6503	SO:0001819	synonymous_variant	200132							g.chr1:67236139G>A	AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.189G>A	1.37:g.67236139G>A						TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_RNA	p.Q63Q	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN			3	320	+			63					Q06YR9|Q5VYE1	Silent	SNP	ENST00000282670.2	37	c.189G>A	CCDS633.1																																																																																				0.348	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	NM_152665		33	105	0	0	0	0	33	105				
ERICH3	127254	broad.mit.edu	37	1	75055435	75055435	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:75055435C>T	ENST00000326665.5	-	12	2274	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K	C1orf173_ENST00000420661.2_Missense_Mutation_p.E489K|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		686	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCGGACTTCTCAGATAAACCC	0.443																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2056-2058)GAG>AAG		hypothetical protein LOC127254							164.0	163.0	163.0					1																	75055435		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75055435C>T																												ENST00000326665.5:c.2056G>A	1.37:g.75055435C>T	ENSP00000322609:p.Glu686Lys					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.E480K	p.E686K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			12	2275	-			686			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2056G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	9.144	1.014584	0.19355	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.17213	2.74;2.29	3.97	1.56	0.23342	.	.	.	.	.	T	0.02929	0.0087	N	0.22421	0.69	0.09310	N	1	B;B	0.22800	0.002;0.075	B;B	0.20184	0.005;0.028	T	0.45571	-0.9252	9	0.25751	T	0.34	-1.3933	5.2854	0.15698	0.0:0.6632:0.0:0.3368	.	489;686	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	K	686;489	ENSP00000322609:E686K;ENSP00000398581:E489K	ENSP00000322609:E686K	E	-	1	0	C1orf173	74828023	0.000000	0.05858	0.003000	0.11579	0.151000	0.21798	0.488000	0.22371	0.385000	0.24970	0.579000	0.79373	GAG		0.443	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			16	102	0	0	0	0	16	102				
COL24A1	255631	broad.mit.edu	37	1	86289244	86289244	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:86289244C>T	ENST00000370571.2	-	45	4130	c.3764G>A	c.(3763-3765)gGa>gAa	p.G1255E	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1255E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1255	Collagen-like 14.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCTTTTAGTCCTTGTTCACC	0.338																																						uc001dlj.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3763-3765)GGA>GAA		collagen, type XXIV, alpha 1 precursor							120.0	112.0	115.0					1																	86289244		1851	4097	5948	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86289244C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3764G>A	1.37:g.86289244C>T	ENSP00000359603:p.Gly1255Glu					COL24A1_uc001dli.2_Missense_Mutation_p.G391E|COL24A1_uc010osd.1_Missense_Mutation_p.G555E|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.G1255E	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	45	3806	-			1255			Collagen-like 14.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.3764G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236403	0.58886	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.99619	-6.28;-6.28	5.85	5.85	0.93711	.	0.269692	0.19881	N	0.103965	D	0.99851	0.9931	H	0.98629	4.285	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97292	0.9925	10	0.87932	D	0	.	17.0934	0.86627	0.0:1.0:0.0:0.0	.	1255;1255	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	E	1255	ENSP00000359603:G1255E;ENSP00000392531:G1255E	ENSP00000359603:G1255E	G	-	2	0	COL24A1	86061832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.936000	0.63506	2.772000	0.95346	0.655000	0.94253	GGA		0.338	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		21	60	0	0	0	0	21	60				
CLCA1	1179	broad.mit.edu	37	1	86939133	86939133	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:86939133G>C	ENST00000234701.3	+	3	547	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	CLCA1_ENST00000394711.1_Missense_Mutation_p.E66Q			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	66	Metalloprotease domain. {ECO:0000269|PubMed:23112050}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GTATCTGCTTGAAGCTACAGG	0.358																																						uc001dlt.2		NA																	0				ovary(1)	1						c.(196-198)GAA>CAA		chloride channel accessory 1 precursor							65.0	64.0	64.0					1																	86939133		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86939133G>C		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.196G>C	1.37:g.86939133G>C	ENSP00000234701:p.Glu66Gln					CLCA1_uc001dls.1_Missense_Mutation_p.E66Q	p.E66Q	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	2	325	+		Lung NSC(277;0.239)	66					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.196G>C	CCDS709.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346272	0.41599	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.13901	2.55;2.55	5.56	4.64	0.57946	Chloride channel calcium-activated (1);	0.320121	0.33895	N	0.004447	T	0.07728	0.0194	L	0.56396	1.775	0.27688	N	0.946225	B	0.31227	0.314	B	0.41666	0.363	T	0.22941	-1.0202	10	0.29301	T	0.29	-26.9755	4.9852	0.14187	0.1583:0.2012:0.6405:0.0	.	66	A8K7I4	CLCA1_HUMAN	Q	66	ENSP00000234701:E66Q;ENSP00000378200:E66Q	ENSP00000234701:E66Q	E	+	1	0	CLCA1	86711721	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	0.485000	0.22324	2.776000	0.95493	0.655000	0.94253	GAA		0.358	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		7	44	0	0	0	0	7	44				
GBP3	2635	broad.mit.edu	37	1	89486310	89486310	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:89486310G>C	ENST00000370481.4	-	2	315	c.95C>G	c.(94-96)tCt>tGt	p.S32C	GBP3_ENST00000475853.2_5'UTR|Y_RNA_ENST00000365515.1_RNA	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TGTAATGGCAGACAGGATTTT	0.517																																						uc001dmt.2		NA																	0				ovary(1)|pancreas(1)	2						c.(94-96)TCT>TGT		guanylate binding protein 3							137.0	128.0	131.0					1																	89486310		2203	4300	6503	SO:0001583	missense	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89486310G>C	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.95C>G	1.37:g.89486310G>C	ENSP00000359512:p.Ser32Cys					GBP3_uc010oss.1_5'UTR|GBP3_uc001dmu.2_5'UTR|GBP3_uc001dmv.2_RNA	p.S32C	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	2	300	-		Lung NSC(277;0.123)	32			Helical; (Potential).		A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	c.95C>G	CCDS717.2	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221379	0.58560	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T;T	0.63417	-0.04;-0.04	3.04	2.09	0.27110	Guanylate-binding protein, N-terminal (1);	0.426169	0.23640	N	0.046033	T	0.71871	0.3391	H	0.95294	3.65	0.09310	N	1	D	0.76494	0.999	D	0.68483	0.958	T	0.63950	-0.6521	10	0.72032	D	0.01	.	3.8664	0.09018	0.1321:0.0:0.6285:0.2393	.	32	Q9H0R5	GBP3_HUMAN	C	32	ENSP00000359512:S32C;ENSP00000235878:S32C	ENSP00000235878:S32C	S	-	2	0	GBP3	89258898	0.001000	0.12720	0.204000	0.23530	0.806000	0.45545	0.437000	0.21543	0.582000	0.29556	0.508000	0.49915	TCT		0.517	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		26	78	0	0	0	0	26	78				
BCAR3	8412	broad.mit.edu	37	1	94037340	94037340	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:94037340C>T	ENST00000370244.1	-	11	2149	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	BCAR3_ENST00000539242.1_Missense_Mutation_p.E297K|BCAR3_ENST00000370243.1_Missense_Mutation_p.E621K|BCAR3_ENST00000260502.6_Missense_Mutation_p.E621K|BCAR3_ENST00000370247.3_Missense_Mutation_p.E530K	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	621	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GCTCGGTCCTCCAAAGTGCCC	0.557																																						uc001dpz.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1861-1863)GAG>AAG		breast cancer antiestrogen resistance 3							112.0	108.0	110.0					1																	94037340		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94037340C>T	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1861G>A	1.37:g.94037340C>T	ENSP00000359264:p.Glu621Lys					BCAR3_uc001dqa.2_Missense_Mutation_p.E621K|BCAR3_uc001dqb.2_Missense_Mutation_p.E621K|BCAR3_uc001dpx.3_Missense_Mutation_p.E297K|BCAR3_uc001dpy.2_Missense_Mutation_p.E530K|BCAR3_uc009wdm.1_Missense_Mutation_p.E297K	p.E621K	NM_003567	NP_003558	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	9	2136	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	621			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.1861G>A	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266508	0.59540	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.73	4.82	0.62117	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.096661	0.64402	D	0.000001	T	0.30696	0.0773	M	0.78049	2.395	0.80722	D	1	B;B;B	0.27594	0.151;0.182;0.151	B;B;B	0.38264	0.153;0.269;0.153	T	0.26395	-1.0104	10	0.62326	D	0.03	-17.5383	14.591	0.68365	0.0:0.9301:0.0:0.0699	.	401;621;530	B3KNL6;O75815;Q5TEW3	.;BCAR3_HUMAN;.	K	530;621;621;621;297	ENSP00000359267:E530K;ENSP00000260502:E621K;ENSP00000359264:E621K;ENSP00000359263:E621K;ENSP00000441343:E297K	ENSP00000260502:E621K	E	-	1	0	BCAR3	93809928	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	7.484000	0.81180	1.417000	0.47077	0.655000	0.94253	GAG		0.557	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			6	90	0	0	0	0	6	90				
EXTL2	2135	broad.mit.edu	37	1	101339776	101339776	+	Missense_Mutation	SNP	C	C	T	rs142198700		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:101339776C>T	ENST00000370114.3	-	5	2151	c.715G>A	c.(715-717)Gat>Aat	p.D239N	EXTL2_ENST00000535414.1_Missense_Mutation_p.D226N|EXTL2_ENST00000370113.3_Missense_Mutation_p.D239N	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	239					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTTGAGTATCATCTATCAAA	0.383																																						uc001dtk.1		NA																	0				skin(1)	1						c.(715-717)GAT>AAT		exostoses-like 2							56.0	53.0	54.0					1																	101339776		2202	4299	6501	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339776C>T	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.715G>A	1.37:g.101339776C>T	ENSP00000359132:p.Asp239Asn					EXTL2_uc001dtl.1_Missense_Mutation_p.D239N|EXTL2_uc010ouk.1_Missense_Mutation_p.D226N|EXTL2_uc001dtm.1_Missense_Mutation_p.D238N	p.D239N	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	1052	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	239			Lumenal (Potential).		B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.715G>A	CCDS775.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231832	0.58777	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.97	5.97	0.96955	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.326457	0.36134	N	0.002777	T	0.55273	0.1910	N	0.17278	0.47	0.26464	N	0.975396	B;B	0.32653	0.213;0.379	B;B	0.36534	0.227;0.227	T	0.58572	-0.7613	10	0.54805	T	0.06	-17.8093	15.8593	0.79009	0.0:0.8652:0.1348:0.0	.	238;239	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	N	239;239;226;247	ENSP00000359132:D239N;ENSP00000359131:D239N;ENSP00000444385:D226N;ENSP00000403363:D247N	ENSP00000359131:D239N	D	-	1	0	EXTL2	101112364	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	2.278000	0.43426	2.837000	0.97791	0.655000	0.94253	GAT		0.383	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		7	14	0	0	0	0	7	14				
CSDE1	7812	broad.mit.edu	37	1	115282405	115282405	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:115282405G>T	ENST00000358528.4	-	3	533	c.107C>A	c.(106-108)tCt>tAt	p.S36Y	CSDE1_ENST00000339438.6_Missense_Mutation_p.S36Y|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000534699.1_Missense_Mutation_p.S36Y|CSDE1_ENST00000369530.1_Missense_Mutation_p.S82Y|CSDE1_ENST00000438362.2_Missense_Mutation_p.S82Y|CSDE1_ENST00000261443.5_Missense_Mutation_p.S36Y	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	36	CSD 1.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		AAATCCGTAAGAGGTTAACAG	0.408																																						uc001efk.2		NA																	0				ovary(1)	1						c.(106-108)TCT>TAT		upstream of NRAS isoform 1							284.0	292.0	289.0					1																	115282405		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115282405G>T		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.107C>A	1.37:g.115282405G>T	ENSP00000351329:p.Ser36Tyr					CSDE1_uc001efi.2_Missense_Mutation_p.S82Y|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.S36Y|CSDE1_uc001efm.2_Missense_Mutation_p.S82Y|CSDE1_uc009wgv.2_Missense_Mutation_p.S36Y|CSDE1_uc001efn.2_Missense_Mutation_p.S36Y	p.S36Y	NM_001007553	NP_001007554	O75534	CSDE1_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)	3	573	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	36			CSD 1.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.107C>A	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845123	0.71603	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000369530;ENST00000534699;ENST00000534389;ENST00000525878	.	.	.	5.81	5.81	0.92471	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.76076	0.3937	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.994	D;D;D	0.87578	0.998;0.995;0.983	T	0.77035	-0.2737	9	0.87932	D	0	-3.8375	20.0755	0.97742	0.0:0.0:1.0:0.0	.	82;36;82	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	Y	36;82;36;36;82;36;36;36	.	ENSP00000261443:S36Y	S	-	2	0	CSDE1	115083928	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.749000	0.94314	0.460000	0.39030	TCT		0.408	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		97	258	1	0	7.48e-49	8.19e-49	97	258				
CA14	23632	broad.mit.edu	37	1	150233959	150233959	+	Missense_Mutation	SNP	G	G	A	rs369995029		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:150233959G>A	ENST00000369111.4	+	3	1148	c.178G>A	c.(178-180)Gat>Aat	p.D60N	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	60					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	ATTTGACCCTGATTTGCCTGC	0.552																																						uc001etx.2		NA																	0				ovary(1)	1						c.(178-180)GAT>AAT		carbonic anhydrase XIV precursor		G	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	148.0	113.0	125.0		178	4.9	0.1	1		125	0,8600		0,0,4300	no	missense	CA14	NM_012113.1	23	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	60/338	150233959	2,13004	2203	4300	6503	SO:0001583	missense	23632					integral to membrane	carbonate dehydratase activity|metal ion binding	g.chr1:150233959G>A	AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.178G>A	1.37:g.150233959G>A	ENSP00000358107:p.Asp60Asn						p.D60N	NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	487	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		60			Extracellular (Potential).		Q5TB24|Q8NCF4	Missense_Mutation	SNP	ENST00000369111.4	37	c.178G>A	CCDS947.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918797	0.33908	4.54E-4	0.0	ENSG00000118298	ENST00000369111	T	0.66460	-0.21	5.8	4.89	0.63831	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.934537	0.09220	N	0.832064	T	0.28499	0.0705	N	0.13140	0.3	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23583	-1.0184	10	0.39692	T	0.17	.	7.5917	0.28025	0.0826:0.0:0.7541:0.1633	.	60	Q9ULX7	CAH14_HUMAN	N	60	ENSP00000358107:D60N	ENSP00000358107:D60N	D	+	1	0	CA14	148500583	0.000000	0.05858	0.106000	0.21319	0.971000	0.66376	0.265000	0.18515	1.470000	0.48102	0.563000	0.77884	GAT		0.552	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113		14	36	0	0	0	0	14	36				
SETDB1	9869	broad.mit.edu	37	1	150923439	150923439	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:150923439G>A	ENST00000271640.5	+	13	2276	c.2086G>A	c.(2086-2088)Gag>Aag	p.E696K	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.E696K	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	696					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTGTCAATGAGATTGACAC	0.468																																						uc001evu.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2086-2088)GAG>AAG		SET domain, bifurcated 1 isoform 1							95.0	96.0	95.0					1																	150923439		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150923439G>A	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2086G>A	1.37:g.150923439G>A	ENSP00000271640:p.Glu696Lys					SETDB1_uc009wmf.2_Missense_Mutation_p.E697K|SETDB1_uc001evv.2_Missense_Mutation_p.E696K|SETDB1_uc009wmg.1_Missense_Mutation_p.E696K	p.E696K	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	2276	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		696					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.2086G>A	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381680	0.82792	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;D	0.90197	-2.63;-2.63;-2.63	5.66	5.66	0.87406	Pre-SET zinc-binding sub-group (1);Pre-SET domain (1);	0.107759	0.64402	D	0.000003	D	0.94341	0.8181	M	0.69463	2.115	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.997	D;D;D	0.83275	0.996;0.987;0.992	D	0.94410	0.7631	10	0.72032	D	0.01	.	18.744	0.91785	0.0:0.0:1.0:0.0	.	696;696;696	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	K	696	ENSP00000271640:E696K;ENSP00000357965:E696K;ENSP00000432348:E696K	ENSP00000271640:E696K	E	+	1	0	SETDB1	149190063	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	9.807000	0.99171	2.656000	0.90262	0.655000	0.94253	GAG		0.468	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			16	52	0	0	0	0	16	52				
SNX27	81609	broad.mit.edu	37	1	151630850	151630850	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:151630850C>T	ENST00000458013.2	+	3	803	c.683C>T	c.(682-684)tCa>tTa	p.S228L	SNX27_ENST00000368838.1_Missense_Mutation_p.S135L|SNX27_ENST00000368843.3_Missense_Mutation_p.S228L			Q96L92	SNX27_HUMAN	sorting nexin family member 27	228	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTTCATTATCAGAACAACAA	0.433																																					Colon(46;291 966 40145 41237 41888)	uc001eyn.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(682-684)TCA>TTA		sorting nexin family member 27							123.0	120.0	121.0					1																	151630850		2203	4300	6503	SO:0001583	missense	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151630850C>T	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.683C>T	1.37:g.151630850C>T	ENSP00000400333:p.Ser228Leu					SNX27_uc001eyo.2_Missense_Mutation_p.S135L|SNX27_uc001eyp.2_Missense_Mutation_p.S42L	p.S228L	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	699	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		228			PX.		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37	c.683C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.516466	0.96402	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.34275	1.37;1.37;1.37	5.61	5.61	0.85477	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.79108	0.914;0.992	T	0.60367	-0.7277	10	0.56958	D	0.05	.	18.2026	0.89843	0.0:1.0:0.0:0.0	.	228;228	Q96L92;Q96L92-3	SNX27_HUMAN;.	L	228;228;135	ENSP00000400333:S228L;ENSP00000357836:S228L;ENSP00000357831:S135L	ENSP00000357831:S135L	S	+	2	0	SNX27	149897474	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.642000	0.89623	0.650000	0.86243	TCA		0.433	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		18	124	0	0	0	0	18	124				
HRNR	388697	broad.mit.edu	37	1	152191644	152191644	+	Missense_Mutation	SNP	C	C	G	rs141963410		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:152191644C>G	ENST00000368801.2	-	3	2536	c.2461G>C	c.(2461-2463)Gag>Cag	p.E821Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	821					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E821*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGACTCGTGTTGCCCA	0.567																																						uc001ezt.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2461-2463)GAG>CAG		hornerin							83.0	87.0	86.0					1																	152191644		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191644C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2461G>C	1.37:g.152191644C>G	ENSP00000357791:p.Glu821Gln						p.E821Q	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2537	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		821			8		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2461G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	6.110	0.388623	0.11581	.	.	ENSG00000197915	ENST00000368801	T	0.17213	2.29	2.27	2.27	0.28462	.	.	.	.	.	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	P	0.45577	0.486	T	0.26121	-1.0112	9	0.14656	T	0.56	.	8.0421	0.30527	0.0:1.0:0.0:0.0	.	821	Q86YZ3	HORN_HUMAN	Q	821	ENSP00000357791:E821Q	ENSP00000357791:E821Q	E	-	1	0	HRNR	150458268	0.050000	0.20438	0.004000	0.12327	0.095000	0.18619	0.882000	0.28186	1.269000	0.44280	0.456000	0.33151	GAG		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		11	45	0	0	0	0	11	45				
S100A2	6273	broad.mit.edu	37	1	153536239	153536239	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:153536239G>C	ENST00000368708.3	-	2	484	c.112C>G	c.(112-114)Ctg>Gtg	p.L38V	S100A2_ENST00000368710.1_Missense_Mutation_p.L38V|S100A2_ENST00000497140.1_Missense_Mutation_p.L5V|S100A2_ENST00000368709.1_Missense_Mutation_p.L38V|S100A2_ENST00000368707.4_Missense_Mutation_p.L38V|S100A2_ENST00000487430.2_Missense_Mutation_p.L38V	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	39	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				endothelial cell migration (GO:0043542)		calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	TCCTTGTGCAGAAGTTCCTTC	0.582																																						uc001fcb.2		NA																	0				ovary(1)	1						c.(112-114)CTG>GTG		S100 calcium binding protein A2							165.0	141.0	149.0					1																	153536239		2203	4300	6503	SO:0001583	missense	6273				endothelial cell migration		calcium ion binding	g.chr1:153536239G>C	BC002829	CCDS1044.1	1q21	2013-01-10	2001-11-28		ENSG00000196754	ENSG00000196754		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10492	protein-coding gene	gene with protein product		176993	"""S100 calcium-binding protein A2"""	S100L		8341667	Standard	NM_005978		Approved	CAN19	uc001fcb.3	P29034	OTTHUMG00000035031	ENST00000368708.3:c.112C>G	1.37:g.153536239G>C	ENSP00000357697:p.Leu38Val						p.L38V	NM_005978	NP_005969	P29034	S10A2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	450	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		39			EF-hand 1.		O00266|Q3KRB9|Q5RHS8|Q9BU83	Missense_Mutation	SNP	ENST00000368708.3	37	c.112C>G	CCDS1044.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293345	0.40594	.	.	ENSG00000196754	ENST00000368708;ENST00000368710;ENST00000368709;ENST00000368707	T;T;T	0.15256	2.44;2.44;2.44	5.43	-0.603	0.11630	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.098719	0.42053	D	0.000775	T	0.03783	0.0107	.	.	.	0.23304	N	0.997946	P	0.44139	0.827	B	0.40375	0.327	T	0.37798	-0.9690	9	0.37606	T	0.19	.	4.6806	0.12732	0.3839:0.0:0.468:0.1481	.	39	P29034	S10A2_HUMAN	V	38	ENSP00000357697:L38V;ENSP00000357699:L38V;ENSP00000357698:L38V	ENSP00000357696:L38V	L	-	1	2	S100A2	151802863	0.800000	0.28916	0.343000	0.25615	0.773000	0.43773	0.686000	0.25392	-0.004000	0.14419	0.655000	0.94253	CTG		0.582	S100A2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084789.1	NM_005978		16	43	0	0	0	0	16	43				
ADAM15	8751	broad.mit.edu	37	1	155030888	155030888	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:155030888C>T	ENST00000356955.2	+	15	1989	c.1888C>T	c.(1888-1890)Ctg>Ttg	p.L630L	ADAM15_ENST00000447332.3_Silent_p.L614L|ADAM15_ENST00000368413.1_Silent_p.L336L|ADAM15_ENST00000271836.6_Silent_p.L630L|ADAM15_ENST00000368412.3_Silent_p.L630L|ADAM15_ENST00000531455.1_Silent_p.L640L|ADAM15_ENST00000359280.4_Silent_p.L630L|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Silent_p.L630L|ADAM15_ENST00000449910.2_Silent_p.L630L|ADAM15_ENST00000368410.2_Silent_p.L336L|ADAM15_ENST00000360674.4_Silent_p.L630L	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	630	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTCCTGACTCTGCCTGGCAC	0.597																																						uc001fgr.1		NA																	0				central_nervous_system(3)|skin(2)|ovary(1)	6						c.(1888-1890)CTG>TTG		a disintegrin and metalloproteinase domain 15							41.0	38.0	39.0					1																	155030888		2203	4300	6503	SO:0001819	synonymous_variant	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155030888C>T	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1888C>T	1.37:g.155030888C>T						ADAM15_uc001fgq.1_Silent_p.L315L|ADAM15_uc010pet.1_Silent_p.L614L|ADAM15_uc010peu.1_Silent_p.L647L|ADAM15_uc001fgt.1_Silent_p.L630L|ADAM15_uc010pev.1_Silent_p.L640L|ADAM15_uc001fgs.1_Silent_p.L630L|ADAM15_uc001fgu.1_Silent_p.L630L|ADAM15_uc001fgw.1_Silent_p.L630L|ADAM15_uc001fgv.1_Silent_p.L630L|ADAM15_uc001fgx.1_Silent_p.L630L|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'UTR	p.L630L	NM_207197	NP_997080	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		15	1989	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		630			Extracellular (Potential).|Cys-rich.		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP	ENST00000356955.2	37	c.1888C>T	CCDS1087.1																																																																																				0.597	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		8	24	0	0	0	0	8	24				
CD1E	913	broad.mit.edu	37	1	158324275	158324275	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:158324275C>T	ENST00000368167.3	+	2	406	c.167C>T	c.(166-168)tCa>tTa	p.S56L	CD1E_ENST00000368155.3_Missense_Mutation_p.S56L|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.S56L|CD1E_ENST00000434258.1_Missense_Mutation_p.S54L|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.S56L|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.S56L|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.S56L|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.S56L	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	56					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AGTGAGGGCTCAGGATGGCTG	0.567																																						uc001fse.2		NA																	0				skin(3)	3						c.(166-168)TCA>TTA		CD1E antigen isoform a precursor							76.0	80.0	79.0					1																	158324275		2186	4299	6485	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158324275C>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.167C>T	1.37:g.158324275C>T	ENSP00000357149:p.Ser56Leu					CD1E_uc010pid.1_Missense_Mutation_p.S54L|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.S56L|CD1E_uc001fsk.2_Missense_Mutation_p.S56L|CD1E_uc001fsj.2_Missense_Mutation_p.S56L|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.S56L|CD1E_uc001fry.2_Missense_Mutation_p.S56L|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.S56L|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.S56L|CD1E_uc009wsw.2_5'Flank	p.S56L	NM_030893	NP_112155	P15812	CD1E_HUMAN			2	406	+	all_hematologic(112;0.0378)		56					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.167C>T	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	C	6.992	0.553128	0.13374	.	.	ENSG00000158488	ENST00000434258;ENST00000368167;ENST00000368165;ENST00000368163;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155	T;T;T;T;T;T;T;T	0.06449	3.3;3.3;3.39;3.3;3.3;3.3;3.59;3.49	3.8	1.9	0.25705	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.559669	0.13587	N	0.376906	T	0.06600	0.0169	L	0.50333	1.59	0.42541	D	0.993073	P;B;B;D;B;P;B;P	0.76494	0.938;0.033;0.129;0.999;0.314;0.89;0.039;0.686	B;B;B;P;B;P;B;P	0.62649	0.302;0.027;0.046;0.905;0.152;0.534;0.042;0.585	T	0.41502	-0.9505	10	0.40728	T	0.16	-0.3421	5.3645	0.16105	0.0:0.6804:0.2062:0.1134	.	54;56;56;56;56;56;56;56	E7ET31;P15812-5;P15812-7;P15812-2;P15812;P15812-3;P15812-6;P15812-4	.;.;.;.;CD1E_HUMAN;.;.;.	L	54;56;56;56;56;56;56;56	ENSP00000401957:S54L;ENSP00000357149:S56L;ENSP00000357147:S56L;ENSP00000357145:S56L;ENSP00000357142:S56L;ENSP00000357143:S56L;ENSP00000357138:S56L;ENSP00000357137:S56L	ENSP00000357137:S56L	S	+	2	0	CD1E	156590899	0.198000	0.23374	0.717000	0.30585	0.074000	0.17049	0.646000	0.24797	0.571000	0.29365	0.563000	0.77884	TCA		0.567	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		19	52	0	0	0	0	19	52				
SPTA1	6708	broad.mit.edu	37	1	158641186	158641186	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:158641186G>A	ENST00000368147.4	-	12	1726	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	516					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q516K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATGCTTCTGAAGAAGGGCT	0.488																																						uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1546-1548)CAG>TAG		spectrin, alpha, erythrocytic 1							113.0	108.0	109.0					1																	158641186		1873	4091	5964	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158641186G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1546C>T	1.37:g.158641186G>A	ENSP00000357129:p.Gln516*						p.Q516*	NM_003126	NP_003117	P02549	SPTA1_HUMAN			12	1745	-	all_hematologic(112;0.0378)		516			Spectrin 6.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.1546C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	39	7.893551	0.98548	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.17	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4201	0.32694	0.0:0.1452:0.5845:0.2703	.	.	.	.	X	516	.	ENSP00000357129:Q516X	Q	-	1	0	SPTA1	156907810	1.000000	0.71417	0.994000	0.49952	0.958000	0.62258	3.271000	0.51608	1.398000	0.46701	0.655000	0.94253	CAG		0.488	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		9	36	0	0	0	0	9	36				
COPA	1314	broad.mit.edu	37	1	160281696	160281696	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:160281696G>A	ENST00000241704.7	-	11	1267	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	COPA_ENST00000368069.3_Silent_p.F346F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	346					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)			TGGAGCTGTTGAAATCCAGCT	0.473																																						uc009wti.2		NA																	0				ovary(1)|skin(1)	2						c.(1036-1038)TTC>TTT		coatomer protein complex, subunit alpha isoform							127.0	105.0	113.0					1																	160281696		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:160281696G>A	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.1038C>T	1.37:g.160281696G>A						COPA_uc001fvv.3_Silent_p.F346F|COPA_uc009wtj.1_Silent_p.F292F	p.F346F	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		11	1432	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		346					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.1038C>T	CCDS1202.1																																																																																				0.473	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		6	28	0	0	0	0	6	28				
CD84	8832	broad.mit.edu	37	1	160535406	160535406	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:160535406G>A	ENST00000311224.4	-	2	242	c.176C>T	c.(175-177)tCt>tTt	p.S59F	CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368054.3_Missense_Mutation_p.S59F|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368048.3_Missense_Mutation_p.S59F|CD84_ENST00000534968.1_Intron|CD84_ENST00000368051.3_Missense_Mutation_p.S59F	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	59	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATAAGCAACAGATGTTTTAGA	0.423																																						uc001fwh.3		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(175-177)TCT>TTT		CD84 molecule							151.0	143.0	146.0					1																	160535406		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160535406G>A	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.176C>T	1.37:g.160535406G>A	ENSP00000312367:p.Ser59Phe					CD84_uc001fwf.3_Missense_Mutation_p.S59F|CD84_uc001fwg.3_Missense_Mutation_p.S59F|CD84_uc009wtn.2_Missense_Mutation_p.S59F|CD84_uc001fwi.3_Intron|CD84_uc001fwj.2_Missense_Mutation_p.S59F|CD84_uc001fwk.2_Missense_Mutation_p.S59F	p.S59F	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	200	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		59			Extracellular (Potential).		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.176C>T	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492362	0.64074	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	5.11	5.11	0.69529	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.583202	0.18527	N	0.138604	T	0.41880	0.1178	M	0.83603	2.65	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.999;0.999	T	0.21280	-1.0250	10	0.51188	T	0.08	-9.9819	14.2208	0.65826	0.0:0.0:1.0:0.0	.	59;59;59;59;59;59	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	F	59	ENSP00000357033:S59F;ENSP00000357027:S59F;ENSP00000312367:S59F;ENSP00000357030:S59F;ENSP00000353163:S59F;ENSP00000357026:S59F	ENSP00000312367:S59F	S	-	2	0	CD84	158802030	0.049000	0.20398	0.289000	0.24876	0.061000	0.15899	2.149000	0.42244	2.814000	0.96858	0.591000	0.81541	TCT		0.423	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		36	111	0	0	0	0	36	111				
METTL18	92342	broad.mit.edu	37	1	169761757	169761757	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:169761757C>T	ENST00000310392.4	-	2	1433	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K	C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Silent_p.K360K|C1orf112_ENST00000456684.1_5'Flank	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	360			K -> M (in dbSNP:rs13375701).			cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						TTATGAACCTCTTCAATCCTT	0.308																																						uc001ggn.2		NA																	0					0						c.(1078-1080)AAG>AAA		hypothetical protein MGC9084							29.0	30.0	30.0					1																	169761757		2201	4297	6498	SO:0001819	synonymous_variant	92342					cytoplasm	protein methyltransferase activity	g.chr1:169761757C>T	AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.1080G>A	1.37:g.169761757C>T						C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank	p.K360K	NM_033418	NP_219486	O95568	MET18_HUMAN			2	1358	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		360					B2R9T5	Silent	SNP	ENST00000310392.4	37	c.1080G>A	CCDS1284.1																																																																																				0.308	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418		3	8	0	0	0	0	3	8				
TNR	7143	broad.mit.edu	37	1	175299264	175299264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:175299264C>A	ENST00000367674.2	-	21	4447	c.3739G>T	c.(3739-3741)Gag>Tag	p.E1247*	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Nonsense_Mutation_p.E1247*			Q92752	TENR_HUMAN	tenascin R	1247	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.E1247K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTGCTGTCCTCGACAGAGAAC	0.587																																						uc001gkp.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(3739-3741)GAG>TAG		tenascin R precursor							85.0	71.0	76.0					1																	175299264		2203	4300	6503	SO:0001587	stop_gained	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175299264C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3739G>T	1.37:g.175299264C>A	ENSP00000356646:p.Glu1247*					TNR_uc009wwu.1_Nonsense_Mutation_p.E1247*	p.E1247*	NM_003285	NP_003276	Q92752	TENR_HUMAN			19	3820	-	Renal(580;0.146)		1247			Fibrinogen C-terminal.		C9J563|Q15568|Q5R3G0	Nonsense_Mutation	SNP	ENST00000367674.2	37	c.3739G>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	46	12.435904	0.99667	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	.	.	.	5.55	4.62	0.57501	.	0.114917	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	15.3667	0.74529	0.1409:0.8591:0.0:0.0	.	.	.	.	X	1247;1247;1157	.	ENSP00000263525:E1247X	E	-	1	0	TNR	173565887	1.000000	0.71417	0.893000	0.35052	0.044000	0.14063	7.380000	0.79704	1.313000	0.45069	-0.181000	0.13052	GAG		0.587	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		13	32	1	0	4.38e-07	4.68e-07	13	32				
FAM20B	9917	broad.mit.edu	37	1	179041145	179041145	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:179041145G>A	ENST00000263733.4	+	8	1432	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	366						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CATCTCCCCAGTGCTCTCTGA	0.557																																						uc001gmc.2		NA																	0				ovary(3)	3						c.(1096-1098)GTG>ATG		hypothetical protein LOC9917 precursor							119.0	115.0	116.0					1																	179041145		2203	4300	6503	SO:0001583	missense	9917					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:179041145G>A	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.1096G>A	1.37:g.179041145G>A	ENSP00000263733:p.Val366Met						p.V366M	NM_014864	NP_055679	O75063	XYLK_HUMAN			8	1389	+			366			Lumenal (Potential).		Q5W0C3|Q5W0C4	Missense_Mutation	SNP	ENST00000263733.4	37	c.1096G>A	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894781	0.91962	.	.	ENSG00000116199	ENST00000263733	T	0.79141	-1.24	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.88680	0.6502	M	0.79805	2.47	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	D	0.89911	0.4052	10	0.87932	D	0	-49.7463	17.5676	0.87924	0.0:0.0:1.0:0.0	.	366	O75063	XYLK_HUMAN	M	366	ENSP00000263733:V366M	ENSP00000263733:V366M	V	+	1	0	FAM20B	177307768	1.000000	0.71417	0.984000	0.44739	0.945000	0.59286	7.963000	0.87922	2.572000	0.86782	0.655000	0.94253	GTG		0.557	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		35	89	0	0	0	0	35	89				
TMCC2	9911	broad.mit.edu	37	1	205238423	205238423	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:205238423G>C	ENST00000358024.3	+	3	1482	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	TMCC2_ENST00000329800.7_Missense_Mutation_p.E125Q|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.E287Q|TMCC2_ENST00000330675.7_Missense_Mutation_p.E140Q	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	365						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GAAGGAGATTGAGCAGAACGG	0.632																																						uc001hbz.1		NA																	0				pancreas(1)	1						c.(1093-1095)GAG>CAG		transmembrane and coiled-coil domain family 2							27.0	26.0	26.0					1																	205238423		2203	4299	6502	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205238423G>C	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1093G>C	1.37:g.205238423G>C	ENSP00000350718:p.Glu365Gln					TMCC2_uc010prf.1_Missense_Mutation_p.E287Q|TMCC2_uc001hca.2_Missense_Mutation_p.E140Q|TMCC2_uc001hcb.1_Missense_Mutation_p.E125Q|TMCC2_uc001hcc.1_5'UTR|TMCC2_uc001hcd.2_Missense_Mutation_p.E132Q	p.E365Q	NM_014858	NP_055673	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		4	1537	+	Breast(84;0.0871)		365			Potential.		A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.1093G>C	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433691	0.83776	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000367159;ENST00000330675;ENST00000329800	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	L	0.46819	1.47	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.991	T	0.56649	-0.7944	10	0.30854	T	0.27	.	19.3957	0.94605	0.0:0.0:1.0:0.0	.	161;125;140;365	Q8IW47;G5E963;B2RAX5;O75069	.;.;.;TMCC2_HUMAN	Q	365;287;169;140;125	ENSP00000350718:E365Q;ENSP00000437943:E287Q;ENSP00000356127:E169Q;ENSP00000331842:E140Q;ENSP00000329436:E125Q	ENSP00000329436:E125Q	E	+	1	0	TMCC2	203505046	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	9.869000	0.99810	2.687000	0.91594	0.462000	0.41574	GAG		0.632	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		9	9	0	0	0	0	9	9				
CR2	1380	broad.mit.edu	37	1	207643212	207643212	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:207643212G>A	ENST00000367058.3	+	6	1179	c.990G>A	c.(988-990)caG>caA	p.Q330Q	CR2_ENST00000367059.3_Silent_p.Q330Q|CR2_ENST00000367057.3_Silent_p.Q330Q|CR2_ENST00000458541.2_Silent_p.Q330Q|CR2_ENST00000485707.1_3'UTR	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	330	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTGATAGTCAGAAGACTGGGA	0.517																																						uc001hfw.2		NA																	0				upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(988-990)CAG>CAA		complement component (3d/Epstein Barr virus)							116.0	101.0	106.0					1																	207643212		2203	4300	6503	SO:0001819	synonymous_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207643212G>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.990G>A	1.37:g.207643212G>A						CR2_uc001hfv.2_Silent_p.Q330Q|CR2_uc009xch.2_Silent_p.Q330Q|CR2_uc009xci.1_5'Flank	p.Q330Q	NM_001877	NP_001868	P20023	CR2_HUMAN			6	1084	+			330			Sushi 5.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	c.990G>A	CCDS1478.1																																																																																				0.517	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		10	25	0	0	0	0	10	25				
SERTAD4	56256	broad.mit.edu	37	1	210415084	210415084	+	Missense_Mutation	SNP	G	G	A	rs370852829		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:210415084G>A	ENST00000367012.3	+	4	703	c.473G>A	c.(472-474)gGc>gAc	p.G158D	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	158						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TCTTTCAATGGCACCTCTGCC	0.453																																						uc001hhy.2		NA																	0				ovary(1)|pancreas(1)	2						c.(472-474)GGC>GAC		SERTA domain containing 4							143.0	148.0	146.0					1																	210415084		2203	4300	6503	SO:0001583	missense	56256						protein binding	g.chr1:210415084G>A	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.473G>A	1.37:g.210415084G>A	ENSP00000355979:p.Gly158Asp					SERTAD4_uc009xcw.2_Missense_Mutation_p.G158D	p.G158D	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	4	652	+			158					B2RD32	Missense_Mutation	SNP	ENST00000367012.3	37	c.473G>A	CCDS1494.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252456	0.22880	.	.	ENSG00000082497	ENST00000367012	.	.	.	5.66	5.66	0.87406	.	0.076163	0.53938	D	0.000045	T	0.33585	0.0868	L	0.29908	0.895	0.09310	N	1	P	0.36065	0.535	B	0.34722	0.188	T	0.26815	-1.0092	9	0.36615	T	0.2	-3.2412	16.4967	0.84247	0.0:0.197:0.803:0.0	.	158	Q9NUC0	SRTD4_HUMAN	D	158	.	ENSP00000355979:G158D	G	+	2	0	SERTAD4	208481707	0.890000	0.30428	0.729000	0.30791	0.980000	0.70556	3.240000	0.51368	2.665000	0.90641	0.655000	0.94253	GGC		0.453	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		42	97	0	0	0	0	42	97				
KCNK2	3776	broad.mit.edu	37	1	215368397	215368397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:215368397G>A	ENST00000444842.2	+	6	1075	c.925G>A	c.(925-927)Gat>Aat	p.D309N	KCNK2_ENST00000391894.2_Missense_Mutation_p.D294N|KCNK2_ENST00000391895.2_Missense_Mutation_p.D305N	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	309				DWL -> RLV (in Ref. 3; AAD01203). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CATGATTGGAGATTGGCTCCG	0.373																																						uc001hkq.2		NA																	0					0						c.(925-927)GAT>AAT		potassium channel, subfamily K, member 2 isoform	Dofetilide(DB00204)						205.0	206.0	206.0					1																	215368397		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215368397G>A	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.925G>A	1.37:g.215368397G>A	ENSP00000394033:p.Asp309Asn					KCNK2_uc001hko.2_Missense_Mutation_p.D305N|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.D294N	p.D309N	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	6	1094	+			309	DWL -> RLV (in Ref. 3; AAD01203).		Cytoplasmic (Potential).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.925G>A	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174434	0.57692	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.31247	1.5;1.5;1.5	4.98	4.98	0.66077	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	N	0.17800	0.525	0.80722	D	1	B;B;D	0.76494	0.027;0.091;0.999	B;B;D	0.76575	0.037;0.07;0.988	T	0.17653	-1.0362	10	0.21540	T	0.41	.	18.6185	0.91313	0.0:0.0:1.0:0.0	.	294;309;305	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	N	305;294;309	ENSP00000375765:D305N;ENSP00000375764:D294N;ENSP00000394033:D309N	ENSP00000375764:D294N	D	+	1	0	KCNK2	213435020	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.809000	0.86057	2.451000	0.82905	0.557000	0.71058	GAT		0.373	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		46	134	0	0	0	0	46	134				
ZNF678	339500	broad.mit.edu	37	1	227842557	227842557	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:227842557T>G	ENST00000343776.5	+	4	951	c.606T>G	c.(604-606)atT>atG	p.I202M	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.I257M	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ATAAGAAAATTCATAGTGGAG	0.368																																						uc001hqw.1		NA																	0				pancreas(1)	1						c.(604-606)ATT>ATG		zinc finger protein 678							99.0	115.0	109.0					1																	227842557		2202	4295	6497	SO:0001583	missense	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227842557T>G	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.606T>G	1.37:g.227842557T>G	ENSP00000344828:p.Ile202Met					ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	p.I202M	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN			4	951	+		Prostate(94;0.0885)	257					Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37	c.606T>G		.	.	.	.	.	.	.	.	.	.	T	12.01	1.811121	0.32053	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.08720	3.06;3.06	1.49	0.106	0.14540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11067	0.0270	N	0.16307	0.4	0.24455	N	0.994469	D	0.65815	0.995	D	0.67103	0.949	T	0.24941	-1.0146	9	0.87932	D	0	.	4.698	0.12813	0.0:0.2147:0.0:0.7853	.	202	Q5SXM1	ZN678_HUMAN	M	202;257	ENSP00000344828:I202M;ENSP00000440403:I257M	ENSP00000344828:I202M	I	+	3	3	ZNF678	225909180	0.003000	0.15002	0.009000	0.14445	0.051000	0.14879	-0.286000	0.08399	-0.179000	0.10654	0.413000	0.27773	ATT		0.368	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		39	116	0	0	0	0	39	116				
GTPBP4	23560	broad.mit.edu	37	10	1063059	1063059	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:1063059G>C	ENST00000360803.4	+	17	1879	c.1797G>C	c.(1795-1797)aaG>aaC	p.K599N	GTPBP4_ENST00000538293.1_Missense_Mutation_p.K483N|GTPBP4_ENST00000545048.1_Missense_Mutation_p.K552N	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	599					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)		CTCAGAAGAAGATGAATCGGT	0.403																																						uc001ift.2		NA																	0				ovary(1)|skin(1)	2						c.(1795-1797)AAG>AAC		G protein-binding protein CRFG							132.0	125.0	127.0					10																	1063059		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.chr10:1063059G>C	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.1797G>C	10.37:g.1063059G>C	ENSP00000354040:p.Lys599Asn					GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.K483N|GTPBP4_uc010qae.1_Missense_Mutation_p.K552N	p.K599N	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)	17	1868	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	599					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.1797G>C	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	G	9.154	1.017034	0.19355	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.34472	1.36;1.36;1.36	5.77	2.91	0.33838	.	0.209202	0.53938	D	0.000057	T	0.28764	0.0713	L	0.45470	1.425	0.46586	D	0.999115	B	0.10296	0.003	B	0.08055	0.003	T	0.08953	-1.0697	10	0.45353	T	0.12	-22.223	8.2016	0.31428	0.3386:0.0:0.6614:0.0	.	599	Q9BZE4	NOG1_HUMAN	N	599;483;552	ENSP00000354040:K599N;ENSP00000444277:K483N;ENSP00000445473:K552N	ENSP00000354040:K599N	K	+	3	2	GTPBP4	1053059	0.999000	0.42202	1.000000	0.80357	0.217000	0.24651	0.616000	0.24344	0.907000	0.36646	-0.140000	0.14226	AAG		0.403	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		15	63	0	0	0	0	15	63				
WDR37	22884	broad.mit.edu	37	10	1123898	1123898	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:1123898C>G	ENST00000358220.1	+	3	334	c.190C>G	c.(190-192)Caa>Gaa	p.Q64E	WDR37_ENST00000381329.1_Missense_Mutation_p.Q64E|WDR37_ENST00000263150.4_Missense_Mutation_p.Q64E			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	64										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		ACTGTTTGGTCAAATAGAAAG	0.318																																						uc001igf.1		NA																	0					0						c.(190-192)CAA>GAA		WD repeat domain 37							84.0	86.0	85.0					10																	1123898		2203	4300	6503	SO:0001583	missense	22884							g.chr10:1123898C>G	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.190C>G	10.37:g.1123898C>G	ENSP00000350954:p.Gln64Glu					WDR37_uc001ige.2_Missense_Mutation_p.Q64E|WDR37_uc009xhm.1_Missense_Mutation_p.Q64E|WDR37_uc009xhn.1_Intron|WDR37_uc001igg.1_RNA	p.Q64E	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	3	363	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	64					A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	c.190C>G	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724059	0.89298	.	.	ENSG00000047056	ENST00000358220;ENST00000381329;ENST00000263150;ENST00000436154	T;T;T;T	0.74632	-0.12;-0.81;-0.12;-0.86	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.77313	2.365	0.80722	D	1	D;D;D	0.76494	0.982;0.994;0.999	D;D;D	0.70716	0.952;0.97;0.92	D	0.86187	0.1610	10	0.48119	T	0.1	.	19.5039	0.95106	0.0:1.0:0.0:0.0	.	64;64;64	A8K976;Q9Y2I8;E7EQ49	.;WDR37_HUMAN;.	E	64;64;64;31	ENSP00000350954:Q64E;ENSP00000370730:Q64E;ENSP00000263150:Q64E;ENSP00000404346:Q31E	ENSP00000263150:Q64E	Q	+	1	0	WDR37	1113898	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.355000	0.79434	2.687000	0.91594	0.462000	0.41574	CAA		0.318	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		19	63	0	0	0	0	19	63				
DHTKD1	55526	broad.mit.edu	37	10	12126746	12126746	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:12126746C>G	ENST00000263035.4	+	3	580	c.518C>G	c.(517-519)tCt>tGt	p.S173C	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	173					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ATGCTGGAATCTCAGGTAAAA	0.527																																						uc001ild.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(517-519)TCT>TGT		dehydrogenase E1 and transketolase domain							92.0	95.0	94.0					10																	12126746		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12126746C>G	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.518C>G	10.37:g.12126746C>G	ENSP00000263035:p.Ser173Cys						p.S173C	NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		3	617	+		Renal(717;0.228)	173					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.518C>G	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326482	0.60743	.	.	ENSG00000181192	ENST00000263035;ENST00000437298	T;T	0.14893	2.47;2.47	5.4	5.4	0.78164	.	0.050498	0.85682	D	0.000000	T	0.22205	0.0535	L	0.55743	1.74	0.80722	D	1	P	0.36577	0.558	B	0.39258	0.295	T	0.01337	-1.1381	10	0.87932	D	0	-11.4922	15.08	0.72108	0.0:0.8587:0.1413:0.0	.	173	Q96HY7	DHTK1_HUMAN	C	173	ENSP00000263035:S173C;ENSP00000388163:S173C	ENSP00000263035:S173C	S	+	2	0	DHTKD1	12166752	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.598000	0.67585	2.692000	0.91855	0.609000	0.83330	TCT		0.527	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		12	54	0	0	0	0	12	54				
JMJD1C	221037	broad.mit.edu	37	10	64946111	64946111	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:64946111C>T	ENST00000399262.2	-	19	6821	c.6603G>A	c.(6601-6603)atG>atA	p.M2201I	JMJD1C_ENST00000542921.1_Missense_Mutation_p.M2019I|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Missense_Mutation_p.M1964I	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2201					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGCTAATGTTCATTTTCTTAT	0.338																																						uc001jmn.2		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(6601-6603)ATG>ATA		jumonji domain containing 1C isoform a							92.0	83.0	86.0					10																	64946111		1835	4089	5924	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64946111C>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6603G>A	10.37:g.64946111C>T	ENSP00000382204:p.Met2201Ile					JMJD1C_uc001jml.2_Missense_Mutation_p.M1964I|JMJD1C_uc001jmm.2_Missense_Mutation_p.M1913I|JMJD1C_uc010qiq.1_Missense_Mutation_p.M2019I|JMJD1C_uc009xpi.2_Missense_Mutation_p.M2019I|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Missense_Mutation_p.M108I	p.M2201I	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			19	6903	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2201					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.6603G>A	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087470	0.76642	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.70516	-0.49;-0.49;-0.49	5.54	5.54	0.83059	.	0.093724	0.64402	D	0.000001	T	0.66177	0.2763	L	0.50333	1.59	0.80722	D	1	P;P;B	0.41546	0.577;0.754;0.003	B;B;B	0.34489	0.13;0.184;0.053	T	0.71876	-0.4460	10	0.72032	D	0.01	-9.6515	19.4329	0.94778	0.0:1.0:0.0:0.0	.	2019;2201;2019	B7ZLC8;Q15652;A0T124	.;JHD2C_HUMAN;.	I	2201;1964;2019	ENSP00000382204:M2201I;ENSP00000384990:M1964I;ENSP00000444682:M2019I	ENSP00000382204:M2201I	M	-	3	0	JMJD1C	64616117	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.273000	0.43381	2.763000	0.94921	0.557000	0.71058	ATG		0.338	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		8	32	0	0	0	0	8	32				
MYPN	84665	broad.mit.edu	37	10	69881415	69881415	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:69881415G>A	ENST00000358913.5	+	2	708	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	MYPN_ENST00000373675.3_Missense_Mutation_p.E74K|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.E74K	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	74	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGAATTAGACGAAAGTGTCAA	0.488																																						uc001jnm.3		NA																	0				ovary(3)|skin(2)	5						c.(220-222)GAA>AAA		myopalladin							53.0	52.0	52.0					10																	69881415		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69881415G>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.220G>A	10.37:g.69881415G>A	ENSP00000351790:p.Glu74Lys					MYPN_uc001jnl.1_Missense_Mutation_p.E74K|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.E74K|MYPN_uc001jnp.1_Missense_Mutation_p.E74K|MYPN_uc009xps.2_Missense_Mutation_p.E74K|MYPN_uc009xpt.2_Missense_Mutation_p.E74K|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA	p.E74K	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			3	405	+			74			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.220G>A	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	5.146	0.212513	0.09757	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.57595	0.75;0.73;0.39	5.5	5.5	0.81552	.	0.053698	0.85682	D	0.000000	T	0.38108	0.1028	L	0.33485	1.01	0.42518	D	0.992994	P;B	0.34615	0.459;0.056	B;B	0.24394	0.053;0.014	T	0.20739	-1.0266	9	.	.	.	.	14.5331	0.67939	0.0:0.2624:0.7376:0.0	.	74;74	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	K	74	ENSP00000351790:E74K;ENSP00000441668:E74K;ENSP00000362779:E74K	.	E	+	1	0	MYPN	69551421	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.112000	0.50368	2.861000	0.98227	0.655000	0.94253	GAA		0.488	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		12	50	0	0	0	0	12	50				
RUFY2	55680	broad.mit.edu	37	10	70156607	70156607	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:70156607G>A	ENST00000602465.1	-	4	428	c.328C>T	c.(328-330)Cga>Tga	p.R110*	RUFY2_ENST00000454950.2_Nonsense_Mutation_p.R52*|RUFY2_ENST00000388768.2_Nonsense_Mutation_p.R145*|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000342616.4_Nonsense_Mutation_p.R110*			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	159	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AGGGCTAATCGAAGCCACGCT	0.428																																						uc001job.2		NA																	0				ovary(1)	1						c.(433-435)CGA>TGA		RUN and FYVE domain-containing 2 isoform a							76.0	76.0	76.0					10																	70156607		1850	4093	5943	SO:0001587	stop_gained	55680					nucleus	metal ion binding	g.chr10:70156607G>A	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.328C>T	10.37:g.70156607G>A	ENSP00000473462:p.Arg110*					RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Intron|RUFY2_uc010qiw.1_Nonsense_Mutation_p.R52*|RUFY2_uc001jod.1_Nonsense_Mutation_p.R110*|RUFY2_uc009xpv.1_5'UTR|RUFY2_uc001joe.1_Nonsense_Mutation_p.R110*	p.R145*	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			4	760	-			159			RUN.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Nonsense_Mutation	SNP	ENST00000602465.1	37	c.433C>T		.	.	.	.	.	.	.	.	.	.	G	38	6.939338	0.97948	.	.	ENSG00000204130	ENST00000388768;ENST00000454950;ENST00000342616	.	.	.	4.9	3.95	0.45737	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6101	0.56546	0.0:0.0:0.7068:0.2932	.	.	.	.	X	145;52;110	.	ENSP00000341727:R110X	R	-	1	2	RUFY2	69826613	0.999000	0.42202	0.998000	0.56505	0.937000	0.57800	2.353000	0.44089	2.542000	0.85734	0.655000	0.94253	CGA		0.428	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		17	38	0	0	0	0	17	38				
SUPV3L1	6832	broad.mit.edu	37	10	70958267	70958267	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:70958267G>A	ENST00000359655.4	+	9	1223	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	388	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTGAAATTCGGGGATTAGAA	0.393																																						uc001jpe.1		NA																	0				urinary_tract(1)|ovary(1)	2						c.(1162-1164)CGG>CAG		suppressor of var1, 3-like 1 precursor							147.0	149.0	149.0					10																	70958267		2203	4300	6503	SO:0001583	missense	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70958267G>A	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.1163G>A	10.37:g.70958267G>A	ENSP00000352678:p.Arg388Gln					SUPV3L1_uc010qjd.1_Missense_Mutation_p.R257Q	p.R388Q	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN			9	1218	+			388			Helicase C-terminal.		A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	c.1163G>A	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047035	0.75846	.	.	ENSG00000156502	ENST00000359655;ENST00000422378	T;T	0.43294	0.95;0.95	5.72	5.72	0.89469	Helicase, C-terminal (3);	0.054375	0.64402	D	0.000001	T	0.40473	0.1118	L	0.33792	1.035	0.80722	D	1	P	0.48503	0.911	P	0.45406	0.479	T	0.05767	-1.0865	10	0.23302	T	0.38	-18.9755	19.8709	0.96851	0.0:0.0:1.0:0.0	.	388	Q8IYB8	SUV3_HUMAN	Q	388;194	ENSP00000352678:R388Q;ENSP00000409072:R194Q	ENSP00000352678:R388Q	R	+	2	0	SUPV3L1	70628273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.774000	0.68906	2.698000	0.92095	0.591000	0.81541	CGG		0.393	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		21	84	0	0	0	0	21	84				
CFAP70	118491	broad.mit.edu	37	10	75051064	75051064	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:75051064C>G	ENST00000310715.3	-	20	2489	c.2369G>C	c.(2368-2370)aGa>aCa	p.R790T	TTC18_ENST00000355577.3_Missense_Mutation_p.R259T|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.R790T|TTC18_ENST00000401621.2_Missense_Mutation_p.R790T	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		790						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCTCTTCCCTCTTTCCTCAGT	0.493																																						uc009xrc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2368-2370)AGA>ACA		tetratricopeptide repeat domain 18							219.0	196.0	204.0					10																	75051064		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75051064C>G																												ENST00000310715.3:c.2369G>C	10.37:g.75051064C>G	ENSP00000310829:p.Arg790Thr					TTC18_uc001jty.2_Missense_Mutation_p.R790T|TTC18_uc001jtv.3_Intron|TTC18_uc001jtw.3_Intron|TTC18_uc001jtx.2_Missense_Mutation_p.R171T	p.R790T	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			20	2490	-	Prostate(51;0.0119)		790					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.2369G>C	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	7.704	0.693724	0.15039	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	T;T;T;T	0.32023	1.91;1.91;1.47;1.49	5.37	2.45	0.29901	.	0.361878	0.27961	N	0.017159	T	0.11367	0.0277	N	0.08118	0	0.22305	N	0.999212	B	0.22480	0.07	B	0.14578	0.011	T	0.28427	-1.0044	10	0.10377	T	0.69	-5.5003	5.2033	0.15277	0.0:0.6456:0.1711:0.1833	.	790	Q5T0N1	TTC18_HUMAN	T	790;790;790;197;790	ENSP00000310829:R790T;ENSP00000384479:R790T;ENSP00000409527:R197T;ENSP00000378334:R790T	ENSP00000310829:R790T	R	-	2	0	TTC18	74721070	0.001000	0.12720	0.385000	0.26158	0.158000	0.22134	1.113000	0.31184	0.731000	0.32448	0.591000	0.81541	AGA		0.493	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				23	121	0	0	0	0	23	121				
VCL	7414	broad.mit.edu	37	10	75877857	75877857	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:75877857C>T	ENST00000211998.4	+	22	3429	c.3335C>T	c.(3334-3336)gCt>gTt	p.A1112V	VCL_ENST00000417648.2_Missense_Mutation_p.A305V|VCL_ENST00000372755.3_Missense_Mutation_p.A1044V|RP11-178G16.5_ENST00000599110.1_lincRNA|RP11-178G16.4_ENST00000598318.1_lincRNA	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1112	C-terminal tail.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GCTGAAGCTGCTTCAATCAAA	0.517																																						uc001jwd.2		NA																VCL/ALK(4)	0				kidney(4)|ovary(1)|central_nervous_system(1)	6						c.(3334-3336)GCT>GTT		vinculin isoform meta-VCL							132.0	115.0	121.0					10																	75877857		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75877857C>T	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.3335C>T	10.37:g.75877857C>T	ENSP00000211998:p.Ala1112Val					VCL_uc009xrr.2_Missense_Mutation_p.A793V|VCL_uc001jwe.2_Missense_Mutation_p.A1044V|VCL_uc010qkz.1_Missense_Mutation_p.A305V	p.A1112V	NM_014000	NP_054706	P18206	VINC_HUMAN			22	3429	+	Prostate(51;0.0112)		1112			C-terminal tail.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.3335C>T	CCDS7341.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.224327|5.224327	0.95139|0.95139	.|.	.|.	ENSG00000035403|ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000417648;ENST00000436396|ENST00000537043	T;T;T;T|.	0.62788|.	-0.0;-0.0;-0.0;-0.0|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78419|0.78419	0.4280|0.4280	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.81914|.	0.995;0.994;0.982|.	T|T	0.80551|0.80551	-0.1332|-0.1332	10|6	0.87932|0.87932	D|D	0|0	.|.	19.4027|19.4027	0.94637|0.94637	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	305;1044;1112|.	B4DTM7;P18206-2;P18206|.	.;.;VINC_HUMAN|.	V|F	1044;1112;305;784|971	ENSP00000361841:A1044V;ENSP00000211998:A1112V;ENSP00000411887:A305V;ENSP00000415489:A784V|.	ENSP00000211998:A1112V|ENSP00000442299:L971F	A|L	+|+	2|1	0|0	VCL|VCL	75547863|75547863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	7.487000|7.487000	0.81328|0.81328	2.576000|2.576000	0.86940|0.86940	0.655000|0.655000	0.94253|0.94253	GCT|CTT		0.517	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		4	69	0	0	0	0	4	69				
HECTD2	143279	broad.mit.edu	37	10	93242780	93242780	+	Missense_Mutation	SNP	G	G	C	rs532704320		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:93242780G>C	ENST00000298068.5	+	8	862	c.768G>C	c.(766-768)caG>caC	p.Q256H	HECTD2_ENST00000371667.1_5'Flank|HECTD2_ENST00000446394.1_Missense_Mutation_p.Q256H|HECTD2_ENST00000536715.1_5'UTR	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	256					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TGCTACGACAGATAGCTACCT	0.308																																					NSCLC(12;376 469 1699 39910 41417)	uc001khl.2		NA																	0				skin(1)	1						c.(766-768)CAG>CAC		HECT domain containing 2 isoform a							98.0	89.0	92.0					10																	93242780		2203	4298	6501	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93242780G>C	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.768G>C	10.37:g.93242780G>C	ENSP00000298068:p.Gln256His					LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.Q256H|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'Flank	p.Q256H	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN			8	868	+			256					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.768G>C	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357974	0.41801	.	.	ENSG00000165338	ENST00000446394;ENST00000298068	T;T	0.37752	1.18;1.2	5.44	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	L	0.46885	1.475	0.80722	D	1	P;P	0.47350	0.861;0.894	B;B	0.43950	0.297;0.437	T	0.04467	-1.0949	10	0.25106	T	0.35	.	10.3604	0.43989	0.1497:0.0:0.8503:0.0	.	256;256	E7ERR3;Q5U5R9	.;HECD2_HUMAN	H	256	ENSP00000401023:Q256H;ENSP00000298068:Q256H	ENSP00000298068:Q256H	Q	+	3	2	HECTD2	93232760	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.141000	0.58038	1.302000	0.44855	-0.229000	0.12294	CAG		0.308	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			16	35	0	0	0	0	16	35				
CYP2C9	1559	broad.mit.edu	37	10	96702031	96702031	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:96702031G>C	ENST00000260682.6	+	3	426	c.414G>C	c.(412-414)aaG>aaC	p.K138N	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	138					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGATGGGGAAGAGGAGCATTG	0.502																																					Ovarian(54;1266 1406 16072 35076)	uc001kka.3		NA																	0				skin(4)|ovary(2)	6						c.(412-414)AAG>AAC		cytochrome P450, family 2, subfamily C,	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						148.0	139.0	142.0					10																	96702031		2203	4297	6500	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96702031G>C	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.414G>C	10.37:g.96702031G>C	ENSP00000260682:p.Lys138Asn					CYP2C9_uc009xut.2_Missense_Mutation_p.K138N|CYP2C9_uc001kjz.2_Missense_Mutation_p.K138N	p.K138N	NM_000771	NP_000762	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	3	439	+		Colorectal(252;0.0902)	138					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.414G>C	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	17.04	3.287438	0.59976	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.72167	-0.63	3.54	1.58	0.23477	.	0.086623	0.44097	U	0.000491	T	0.77624	0.4158	M	0.75085	2.285	0.32700	N	0.513026	D;D;P	0.61697	0.99;0.99;0.949	P;P;P	0.60236	0.784;0.784;0.871	T	0.80108	-0.1520	10	0.72032	D	0.01	.	7.8026	0.29183	0.2227:0.0:0.7773:0.0	.	138;138;138	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	N	138	ENSP00000260682:K138N	ENSP00000260682:K138N	K	+	3	2	CYP2C9	96692021	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.890000	0.28295	0.263000	0.21812	0.484000	0.47621	AAG		0.502	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		16	68	0	0	0	0	16	68				
SFRP5	6425	broad.mit.edu	37	10	99527298	99527298	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:99527298G>T	ENST00000266066.3	-	3	1045	c.927C>A	c.(925-927)ttC>ttA	p.F309L		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	309					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell differentiation (GO:0030154)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|establishment or maintenance of cell polarity (GO:0007163)|gonad development (GO:0008406)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis (GO:2000057)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|post-anal tail morphogenesis (GO:0036342)|signal transduction (GO:0007165)|vasculature development (GO:0001944)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		CCCCGTAGAAGAAAGGGTAGT	0.587																																						uc001kor.3		NA																	0				lung(1)	1						c.(925-927)TTC>TTA		secreted frizzled-related protein 5 precursor							50.0	40.0	44.0					10																	99527298		2202	4295	6497	SO:0001583	missense	6425				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:99527298G>T	AF017988	CCDS7472.1	10q24	2008-07-10			ENSG00000120057	ENSG00000120057		"""Secreted frizzled-related proteins"""	10779	protein-coding gene	gene with protein product	"""secreted apoptosis related protein 3"""	604158				9391078	Standard	NM_003015		Approved	SARP3	uc001kor.4	Q5T4F7	OTTHUMG00000018866	ENST00000266066.3:c.927C>A	10.37:g.99527298G>T	ENSP00000266066:p.Phe309Leu						p.F309L	NM_003015	NP_003006	Q5T4F7	SFRP5_HUMAN		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)	3	1093	-		Colorectal(252;0.234)	309					O14780|Q86TH7	Missense_Mutation	SNP	ENST00000266066.3	37	c.927C>A	CCDS7472.1	.	.	.	.	.	.	.	.	.	.	G	9.444	1.088805	0.20390	.	.	ENSG00000120057	ENST00000266066	T	0.62639	0.01	5.74	4.61	0.57282	.	0.206038	0.43747	D	0.000529	T	0.34832	0.0911	N	0.04508	-0.205	0.33742	D	0.6195	B	0.06786	0.001	B	0.04013	0.001	T	0.33471	-0.9867	10	0.30078	T	0.28	.	6.1648	0.20384	0.2017:0.1559:0.6424:0.0	.	309	Q5T4F7	SFRP5_HUMAN	L	309	ENSP00000266066:F309L	ENSP00000266066:F309L	F	-	3	2	SFRP5	99517288	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	2.397000	0.44477	1.086000	0.41228	0.561000	0.74099	TTC		0.587	SFRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049742.1	NM_003015		5	21	1	0	0.00116845	0.00120535	5	21				
SFRP5	6425	broad.mit.edu	37	10	99527328	99527328	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:99527328G>A	ENST00000266066.3	-	3	1015	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	299	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell differentiation (GO:0030154)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|establishment or maintenance of cell polarity (GO:0007163)|gonad development (GO:0008406)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis (GO:2000057)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|post-anal tail morphogenesis (GO:0036342)|signal transduction (GO:0007165)|vasculature development (GO:0001944)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		AGGGGTAGGAGAACATGAATT	0.567																																						uc001kor.3		NA																	0				lung(1)	1						c.(895-897)TTC>TTT		secreted frizzled-related protein 5 precursor							75.0	58.0	64.0					10																	99527328		2203	4300	6503	SO:0001819	synonymous_variant	6425				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:99527328G>A	AF017988	CCDS7472.1	10q24	2008-07-10			ENSG00000120057	ENSG00000120057		"""Secreted frizzled-related proteins"""	10779	protein-coding gene	gene with protein product	"""secreted apoptosis related protein 3"""	604158				9391078	Standard	NM_003015		Approved	SARP3	uc001kor.4	Q5T4F7	OTTHUMG00000018866	ENST00000266066.3:c.897C>T	10.37:g.99527328G>A							p.F299F	NM_003015	NP_003006	Q5T4F7	SFRP5_HUMAN		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)	3	1063	-		Colorectal(252;0.234)	299			NTR.		O14780|Q86TH7	Silent	SNP	ENST00000266066.3	37	c.897C>T	CCDS7472.1																																																																																				0.567	SFRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049742.1	NM_003015		8	29	0	0	0	0	8	29				
CWF19L1	55280	broad.mit.edu	37	10	102003530	102003530	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:102003530C>A	ENST00000354105.4	-	10	1055	c.969G>T	c.(967-969)caG>caT	p.Q323H	CWF19L1_ENST00000370379.1_Missense_Mutation_p.Q78H|CWF19L1_ENST00000478047.1_Intron	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	323							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GTCCTGGAGGCTGAGCTTCAT	0.443																																						uc001kqq.1		NA																	0					0						c.(967-969)CAG>CAT		CWF19-like 1, cell cycle control							156.0	147.0	150.0					10																	102003530		2203	4300	6503	SO:0001583	missense	55280						catalytic activity	g.chr10:102003530C>A	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.969G>T	10.37:g.102003530C>A	ENSP00000326411:p.Gln323His					CWF19L1_uc001kqs.1_Missense_Mutation_p.Q75H|CWF19L1_uc001kqr.1_Missense_Mutation_p.Q323H|CWF19L1_uc001kqt.1_Splice_Site_p.P28_splice|CWF19L1_uc010qpn.1_Missense_Mutation_p.Q186H	p.Q323H	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	10	1056	-		Colorectal(252;0.117)	323					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	c.969G>T	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710192	0.68730	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.24723	2.19;1.84	5.98	5.08	0.68730	Histidine triad-like motif (1);Cwf19-like, C-terminal domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	M	0.77103	2.36	0.53005	D	0.999962	D;D	0.64830	0.991;0.994	D;P	0.63192	0.912;0.885	T	0.43540	-0.9385	10	0.25751	T	0.34	-4.9502	12.8777	0.57999	0.0:0.9217:0.0:0.0783	.	186;323	Q69YN2-3;Q69YN2	.;C19L1_HUMAN	H	323;78	ENSP00000326411:Q323H;ENSP00000359405:Q78H	ENSP00000326411:Q323H	Q	-	3	2	CWF19L1	101993520	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.443000	0.52907	1.525000	0.49052	0.650000	0.86243	CAG		0.443	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		29	90	1	0	1.89e-17	2.06e-17	29	90				
PSD	5662	broad.mit.edu	37	10	104173810	104173810	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr10:104173810G>A	ENST00000020673.5	-	5	1795	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Silent_p.L423L	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	423					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCAGCGAGGCGAGGCTGGTAT	0.652																																						uc001kvg.1		NA																	0				breast(2)|urinary_tract(1)	3						c.(1267-1269)CTC>CTT		pleckstrin and Sec7 domain containing							53.0	61.0	58.0					10																	104173810		2203	4300	6503	SO:0001819	synonymous_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104173810G>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1269C>T	10.37:g.104173810G>A						PSD_uc001kvh.1_Silent_p.L44L|PSD_uc009xxd.1_Silent_p.L423L	p.L423L	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	5	1796	-			423					B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	ENST00000020673.5	37	c.1269C>T	CCDS31272.1																																																																																				0.652	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			4	46	0	0	0	0	4	46				
MUC6	4588	broad.mit.edu	37	11	1016425	1016425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:1016425G>A	ENST00000421673.2	-	31	6426	c.6376C>T	c.(6376-6378)Cag>Tag	p.Q2126*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2126	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGGACAGCTGATTAGTTGTG	0.527																																						uc001lsw.2		NA																	0				ovary(1)	1						c.(6376-6378)CAG>TAG		mucin 6, gastric							103.0	108.0	107.0					11																	1016425		2064	4205	6269	SO:0001587	stop_gained	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016425G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6376C>T	11.37:g.1016425G>A	ENSP00000406861:p.Gln2126*						p.Q2126*	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6427	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2126			Ser-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Nonsense_Mutation	SNP	ENST00000421673.2	37	c.6376C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	43	10.516787	0.99419	.	.	ENSG00000184956	ENST00000421673	.	.	.	1.38	-2.45	0.06481	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	3.0054	0.06027	0.3625:0.2352:0.4023:0.0	.	.	.	.	X	2126	.	ENSP00000406861:Q2126X	Q	-	1	0	MUC6	1006425	0.000000	0.05858	0.000000	0.03702	0.220000	0.24768	-2.255000	0.01182	-0.965000	0.03591	-1.185000	0.01705	CAG		0.527	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		5	26	0	0	0	0	5	26				
RRP8	23378	broad.mit.edu	37	11	6622653	6622653	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:6622653C>T	ENST00000254605.6	-	3	760	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	ILK_ENST00000396751.2_5'Flank|ILK_ENST00000528995.1_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000299421.4_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000537806.1_5'Flank|ILK_ENST00000420936.2_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	215					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						TCTGTGGGGGCCTCAGCTGGG	0.592																																						uc001med.2		NA																	0					0						c.(643-645)GCC>ACC		ribosomal RNA processing 8, methyltransferase,							39.0	42.0	41.0					11																	6622653		2201	4296	6497	SO:0001583	missense	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6622653C>T	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.643G>A	11.37:g.6622653C>T	ENSP00000254605:p.Ala215Thr					ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	p.A215T	NM_015324	NP_056139	O43159	RRP8_HUMAN			3	722	-			215					Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	c.643G>A	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	C	6.200	0.405112	0.11754	.	.	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.47177	1.51;0.85	5.85	4.93	0.64822	.	0.515737	0.19410	N	0.114967	T	0.35595	0.0937	L	0.34521	1.04	0.19945	N	0.999949	B	0.17465	0.022	B	0.13407	0.009	T	0.09122	-1.0689	10	0.21540	T	0.41	-2.5856	12.3378	0.55077	0.0:0.92:0.0:0.08	.	215	O43159	RRP8_HUMAN	T	215	ENSP00000254605:A215T;ENSP00000436246:A215T	ENSP00000254605:A215T	A	-	1	0	RRP8	6579229	0.044000	0.20184	0.017000	0.16124	0.121000	0.20230	1.650000	0.37292	2.773000	0.95371	0.650000	0.86243	GCC		0.592	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		11	39	0	0	0	0	11	39				
DKK3	27122	broad.mit.edu	37	11	11988594	11988594	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:11988594G>A	ENST00000396505.2	-	6	818	c.580C>T	c.(580-582)Cac>Tac	p.H194Y	DKK3_ENST00000326932.4_Missense_Mutation_p.H194Y|DKK3_ENST00000525493.1_Missense_Mutation_p.H194Y|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Missense_Mutation_p.H166Y	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	194	DKK-type Cys-1.				adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		TTGGTGCAGTGACCCCAGACA	0.622											OREG0020766	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mju.2		NA																	0				breast(1)	1						c.(580-582)CAC>TAC		dickkopf homolog 3 precursor							86.0	80.0	82.0					11																	11988594		2201	4294	6495	SO:0001583	missense	27122				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space		g.chr11:11988594G>A	AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.580C>T	11.37:g.11988594G>A	ENSP00000379762:p.His194Tyr		OREG0020766	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	676	DKK3_uc010rcf.1_Missense_Mutation_p.H166Y|DKK3_uc001mjv.2_Missense_Mutation_p.H194Y|DKK3_uc001mjw.2_Missense_Mutation_p.H194Y|DKK3_uc010rcg.1_Missense_Mutation_p.H194Y	p.H194Y	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN		Epithelial(150;0.000502)	5	637	-			194			DKK-type Cys-1.		A8K1I2|D3DQW1|Q9ULB7	Missense_Mutation	SNP	ENST00000396505.2	37	c.580C>T	CCDS7808.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321371	0.81580	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000450094;ENST00000326914;ENST00000533813;ENST00000534511	T;T;T;T;T;T	0.43294	2.24;2.24;2.23;1.52;1.92;0.95	5.43	5.43	0.79202	Dickkopf, N-terminal cysteine-rich (1);	0.425683	0.28549	N	0.014948	T	0.37571	0.1008	L	0.44542	1.39	0.35419	D	0.793059	P;P;P	0.49090	0.919;0.77;0.917	B;B;P	0.45577	0.432;0.357;0.486	T	0.33292	-0.9874	10	0.07325	T	0.83	-12.6482	14.8702	0.70450	0.0:0.1864:0.8136:0.0	.	194;166;194	F6SYF8;E7EUD0;Q9UBP4	.;.;DKK3_HUMAN	Y	194;194;137;194;166;38;194;166	ENSP00000379762:H194Y;ENSP00000314910:H194Y;ENSP00000433112:H194Y;ENSP00000398365:H166Y;ENSP00000435269:H194Y;ENSP00000436645:H166Y	ENSP00000314730:H38Y	H	-	1	0	DKK3	11945170	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.024000	0.64090	2.547000	0.85894	0.655000	0.94253	CAC		0.622	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	NM_013253		17	41	0	0	0	0	17	41				
C11orf58	10944	broad.mit.edu	37	11	16760339	16760339	+	Missense_Mutation	SNP	G	G	C	rs146011841	byFrequency	TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:16760339G>C	ENST00000228136.4	+	1	392	c.14G>C	c.(13-15)aGa>aCa	p.R5T	C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000527893.1_Intron|C11orf58_ENST00000525684.1_Missense_Mutation_p.R5T			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	5										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						AGTGCTGCCAGAGAGTCTCAC	0.582																																						uc001mmk.2		NA																	0					0						c.(13-15)AGA>ACA		small acidic protein isoform a							59.0	59.0	59.0					11																	16760339		2200	4294	6494	SO:0001583	missense	10944							g.chr11:16760339G>C	BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"""small acidic protein"""					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.14G>C	11.37:g.16760339G>C	ENSP00000228136:p.Arg5Thr					C11orf58_uc010rct.1_5'UTR|SOX6_uc001mmh.1_5'Flank	p.R5T	NM_014267	NP_055082	O00193	SMAP_HUMAN			1	192	+			5					B2RD28	Missense_Mutation	SNP	ENST00000228136.4	37	c.14G>C	CCDS7822.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570219	0.86542	.	.	ENSG00000110696	ENST00000228136;ENST00000524439;ENST00000528634;ENST00000525684	.	.	.	5.88	5.88	0.94601	.	0.387664	0.29087	N	0.013192	T	0.65037	0.2653	L	0.29908	0.895	0.80722	D	1	D	0.57899	0.981	D	0.66351	0.943	T	0.64918	-0.6294	9	0.52906	T	0.07	.	15.7386	0.77866	0.0:0.0:1.0:0.0	.	5	O00193	SMAP_HUMAN	T	5	.	ENSP00000228136:R5T	R	+	2	0	C11orf58	16716915	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.442000	0.59988	2.784000	0.95788	0.655000	0.94253	AGA		0.582	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387023.2	NM_014267		3	46	0	0	0	0	3	46				
WT1	7490	broad.mit.edu	37	11	32417879	32417879	+	Silent	SNP	G	G	A	rs200539928		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:32417879G>A	ENST00000379079.2	-	7	810	c.537C>T	c.(535-537)ttC>ttT	p.F179F	WT1_ENST00000530998.1_Silent_p.F162F|WT1_ENST00000332351.3_Silent_p.F391F|WT1_ENST00000448076.3_Silent_p.F391F	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	323					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AAGCACACATGAAGGGGCGTT	0.542			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.1		NA	yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	0		p.V380_S410del(1)		haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687						c.(1171-1173)TTC>TTT		Wilms tumor 1 isoform D							139.0	119.0	126.0					11																	32417879		2202	4299	6501	SO:0001819	synonymous_variant	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32417879G>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.537C>T	11.37:g.32417879G>A						WT1_uc001mtl.1_Silent_p.F179F|WT1_uc001mtm.1_Silent_p.F162F|WT1_uc001mto.1_Silent_p.F391F|WT1_uc001mtp.1_Silent_p.F374F|WT1_uc001mtq.1_Silent_p.F374F|WT1_uc009yjs.1_RNA	p.F391F	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		7	1369	-	Breast(20;0.247)		323			C2H2-type 1.		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000379079.2	37	c.1173C>T	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479394	0.26511	.	.	ENSG00000184937	ENST00000527882	.	.	.	6.17	4.1	0.47936	.	.	.	.	.	T	0.62429	0.2427	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58555	-0.7616	4	.	.	.	.	11.2545	0.49045	0.1661:0.0:0.8339:0.0	.	.	.	.	Y	82	.	.	H	-	1	0	WT1	32374455	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.289000	0.51747	0.748000	0.32831	0.655000	0.94253	CAT		0.542	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		17	49	0	0	0	0	17	49				
KIAA1549L	25758	broad.mit.edu	37	11	33689480	33689480	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:33689480C>G	ENST00000321505.4	+	20	5510	c.5330C>G	c.(5329-5331)tCc>tGc	p.S1777C	RP4-541C22.5_ENST00000534431.1_RNA|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S1783C			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1777						integral component of membrane (GO:0016021)											AGCTCTCCCTCCAGGCTTCCT	0.687																																						uc001mup.3		NA																	0				ovary(2)	2						c.(5347-5349)TCC>TGC		hypothetical protein LOC25758							26.0	33.0	30.0					11																	33689480		2042	4175	6217	SO:0001583	missense	25758					integral to membrane		g.chr11:33689480C>G	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.5330C>G	11.37:g.33689480C>G	ENSP00000315295:p.Ser1777Cys						p.S1783C	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			20	5472	+			1777					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.5348C>G	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074725	0.76415	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.57	5.57	0.84162	.	0.208162	0.33309	N	0.005048	T	0.55878	0.1948	N	0.19112	0.55	0.31824	N	0.62561	D	0.89917	1.0	D	0.68192	0.956	T	0.61422	-0.7066	9	0.52906	T	0.07	-19.2287	19.5406	0.95272	0.0:1.0:0.0:0.0	.	1783	E9PAT2	.	C	1777;1783;1616	.	ENSP00000315295:S1777C	S	+	2	0	C11orf41	33646056	0.957000	0.32711	1.000000	0.80357	0.874000	0.50279	4.223000	0.58587	2.630000	0.89119	0.561000	0.74099	TCC		0.687	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		7	12	0	0	0	0	7	12				
AHNAK	79026	broad.mit.edu	37	11	62286412	62286412	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62286412C>G	ENST00000378024.4	-	5	15751	c.15477G>C	c.(15475-15477)ctG>ctC	p.L5159L	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5159					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGGCCTTTCAGGTCACCCT	0.522																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(15475-15477)CTG>CTC		AHNAK nucleoprotein isoform 1							97.0	98.0	98.0					11																	62286412		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62286412C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15477G>C	11.37:g.62286412C>G						AHNAK_uc001ntk.1_Intron	p.L5159L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	15777	-		Melanoma(852;0.155)	5159					A1A586	Silent	SNP	ENST00000378024.4	37	c.15477G>C	CCDS31584.1																																																																																				0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		9	44	0	0	0	0	9	44				
AHNAK	79026	broad.mit.edu	37	11	62291157	62291157	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62291157C>T	ENST00000378024.4	-	5	11006	c.10732G>A	c.(10732-10734)Gat>Aat	p.D3578N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3578					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTGATATCAACCTCTGGC	0.468																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(10732-10734)GAT>AAT		AHNAK nucleoprotein isoform 1							162.0	166.0	165.0					11																	62291157		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291157C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10732G>A	11.37:g.62291157C>T	ENSP00000367263:p.Asp3578Asn					AHNAK_uc001ntk.1_Intron	p.D3578N	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	11032	-		Melanoma(852;0.155)	3578					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10732G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	17.80	3.478526	0.63849	.	.	ENSG00000124942	ENST00000378024	T	0.01821	4.62	4.86	4.86	0.63082	.	0.057139	0.64402	D	0.000002	T	0.06462	0.0166	M	0.64080	1.96	0.38843	D	0.956107	D	0.71674	0.998	D	0.78314	0.991	T	0.45877	-0.9231	10	0.22706	T	0.39	-4.9032	8.6434	0.33991	0.0:0.7616:0.1548:0.0836	.	3578	Q09666	AHNK_HUMAN	N	3578	ENSP00000367263:D3578N	ENSP00000367263:D3578N	D	-	1	0	AHNAK	62047733	0.968000	0.33430	0.714000	0.30535	0.957000	0.61999	2.406000	0.44557	2.406000	0.81754	0.453000	0.30009	GAT		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		55	162	0	0	0	0	55	162				
AHNAK	79026	broad.mit.edu	37	11	62294428	62294428	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62294428C>G	ENST00000378024.4	-	5	7735	c.7461G>C	c.(7459-7461)atG>atC	p.M2487I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2487					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCTGATGTTCATATCTGGTA	0.478																																						uc001ntl.2		NA																	0		p.M2487V(1)		ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(7459-7461)ATG>ATC		AHNAK nucleoprotein isoform 1							155.0	159.0	158.0					11																	62294428		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294428C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7461G>C	11.37:g.62294428C>G	ENSP00000367263:p.Met2487Ile					AHNAK_uc001ntk.1_Intron	p.M2487I	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	7761	-		Melanoma(852;0.155)	2487					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7461G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.890132	0.00527	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00616	6.2	4.36	-3.97	0.04094	.	.	.	.	.	T	0.00384	0.0012	N	0.03000	-0.44	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41270	-0.9518	9	0.23891	T	0.37	.	10.209	0.43131	0.6958:0.2301:0.0:0.0741	.	2487	Q09666	AHNK_HUMAN	I	576;2487	ENSP00000367263:M2487I	ENSP00000244934:M576I	M	-	3	0	AHNAK	62051004	0.500000	0.26091	0.003000	0.11579	0.008000	0.06430	-0.026000	0.12392	-0.708000	0.05015	-0.329000	0.08387	ATG		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		49	147	0	0	0	0	49	147				
AHNAK	79026	broad.mit.edu	37	11	62296791	62296791	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62296791C>G	ENST00000378024.4	-	5	5372	c.5098G>C	c.(5098-5100)Gat>Cat	p.D1700H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1700					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACCTCCACATCTGGGGCATCA	0.493																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(5098-5100)GAT>CAT		AHNAK nucleoprotein isoform 1							251.0	252.0	252.0					11																	62296791		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296791C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5098G>C	11.37:g.62296791C>G	ENSP00000367263:p.Asp1700His					AHNAK_uc001ntk.1_Intron	p.D1700H	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	5398	-		Melanoma(852;0.155)	1700					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5098G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	9.876	1.200198	0.22121	.	.	ENSG00000124942	ENST00000378024	T	0.35789	1.29	3.87	1.95	0.26073	.	0.000000	0.38217	U	0.001780	T	0.62756	0.2454	M	0.91818	3.245	0.31626	N	0.6497	D	0.89917	1.0	D	0.91635	0.999	T	0.67902	-0.5550	10	0.52906	T	0.07	.	9.2768	0.37705	0.0:0.8148:0.0:0.1852	.	1700	Q09666	AHNK_HUMAN	H	1700	ENSP00000367263:D1700H	ENSP00000367263:D1700H	D	-	1	0	AHNAK	62053367	0.589000	0.26807	0.008000	0.14137	0.103000	0.19146	2.424000	0.44714	0.225000	0.20959	0.195000	0.17529	GAT		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		60	241	0	0	0	0	60	241				
AHNAK	79026	broad.mit.edu	37	11	62296833	62296833	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62296833C>G	ENST00000378024.4	-	5	5330	c.5056G>C	c.(5056-5058)Gat>Cat	p.D1686H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1686					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGTCAACATCTGGCACTTTC	0.488																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(5056-5058)GAT>CAT		AHNAK nucleoprotein isoform 1							301.0	300.0	300.0					11																	62296833		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296833C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5056G>C	11.37:g.62296833C>G	ENSP00000367263:p.Asp1686His					AHNAK_uc001ntk.1_Intron	p.D1686H	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	5356	-		Melanoma(852;0.155)	1686					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5056G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	9.690	1.151561	0.21371	.	.	ENSG00000124942	ENST00000378024	T	0.00760	5.73	3.95	2.02	0.26589	.	0.200709	0.24147	U	0.041105	T	0.01421	0.0046	M	0.77486	2.375	0.32306	N	0.564431	B	0.24675	0.109	B	0.28139	0.086	T	0.04811	-1.0925	10	0.66056	D	0.02	.	7.546	0.27768	0.0:0.7197:0.0:0.2803	.	1686	Q09666	AHNK_HUMAN	H	1686	ENSP00000367263:D1686H	ENSP00000367263:D1686H	D	-	1	0	AHNAK	62053409	0.001000	0.12720	0.361000	0.25849	0.065000	0.16274	0.236000	0.17967	0.253000	0.21552	0.187000	0.17357	GAT		0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		71	259	0	0	0	0	71	259				
AHNAK	79026	broad.mit.edu	37	11	62297749	62297749	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62297749C>T	ENST00000378024.4	-	5	4414	c.4140G>A	c.(4138-4140)ctG>ctA	p.L1380L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1380					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGCATCTTCAGGTGCCAAT	0.498																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(4138-4140)CTG>CTA		AHNAK nucleoprotein isoform 1							250.0	257.0	254.0					11																	62297749		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62297749C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4140G>A	11.37:g.62297749C>T						AHNAK_uc001ntk.1_Intron	p.L1380L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	4440	-		Melanoma(852;0.155)	1380					A1A586	Silent	SNP	ENST00000378024.4	37	c.4140G>A	CCDS31584.1																																																																																				0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		81	236	0	0	0	0	81	236				
AHNAK	79026	broad.mit.edu	37	11	62298201	62298201	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62298201C>G	ENST00000378024.4	-	5	3962	c.3688G>C	c.(3688-3690)Gaa>Caa	p.E1230Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1230					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTGATTTCAACATCTGGC	0.483																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(3688-3690)GAA>CAA		AHNAK nucleoprotein isoform 1							279.0	288.0	285.0					11																	62298201		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62298201C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3688G>C	11.37:g.62298201C>G	ENSP00000367263:p.Glu1230Gln					AHNAK_uc001ntk.1_Intron	p.E1230Q	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	3988	-		Melanoma(852;0.155)	1230					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3688G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	11.49	1.655504	0.29425	.	.	ENSG00000124942	ENST00000378024	T	0.00976	5.48	4.93	4.93	0.64822	.	0.000000	0.33309	U	0.005046	T	0.01835	0.0058	L	0.54323	1.7	0.38303	D	0.94303	B	0.20261	0.043	B	0.27076	0.076	T	0.59742	-0.7397	10	0.32370	T	0.25	.	17.7556	0.88447	0.0:1.0:0.0:0.0	.	1230	Q09666	AHNK_HUMAN	Q	1230	ENSP00000367263:E1230Q	ENSP00000367263:E1230Q	E	-	1	0	AHNAK	62054777	0.049000	0.20398	0.964000	0.40570	0.051000	0.14879	1.190000	0.32126	2.293000	0.77203	0.650000	0.86243	GAA		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		89	285	0	0	0	0	89	285				
AHNAK	79026	broad.mit.edu	37	11	62298786	62298786	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:62298786C>G	ENST00000378024.4	-	5	3377	c.3103G>C	c.(3103-3105)Gat>Cat	p.D1035H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1035					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATTAGTATCTACTTTTGGT	0.463																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(3103-3105)GAT>CAT		AHNAK nucleoprotein isoform 1							91.0	89.0	90.0					11																	62298786		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62298786C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3103G>C	11.37:g.62298786C>G	ENSP00000367263:p.Asp1035His					AHNAK_uc001ntk.1_Intron	p.D1035H	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	3403	-		Melanoma(852;0.155)	1035					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3103G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	12.50	1.955204	0.34471	.	.	ENSG00000124942	ENST00000378024	T	0.03004	4.08	4.63	3.7	0.42460	.	0.182863	0.46442	D	0.000300	T	0.26011	0.0634	H	0.96269	3.795	0.35116	D	0.766631	D	0.89917	1.0	D	0.91635	0.999	T	0.52079	-0.8623	10	0.46703	T	0.11	-13.8139	12.5834	0.56403	0.0:0.9113:0.0:0.0887	.	1035	Q09666	AHNK_HUMAN	H	1035	ENSP00000367263:D1035H	ENSP00000367263:D1035H	D	-	1	0	AHNAK	62055362	0.929000	0.31497	0.995000	0.50966	0.362000	0.29581	1.692000	0.37731	2.285000	0.76669	0.555000	0.69702	GAT		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		14	84	0	0	0	0	14	84				
SF1	7536	broad.mit.edu	37	11	64536578	64536578	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:64536578G>C	ENST00000377390.3	-	8	1140	c.803C>G	c.(802-804)tCa>tGa	p.S268*	SF1_ENST00000334944.5_Nonsense_Mutation_p.S268*|SF1_ENST00000227503.9_Nonsense_Mutation_p.S268*|SF1_ENST00000433274.2_Nonsense_Mutation_p.S242*|SF1_ENST00000422298.2_Nonsense_Mutation_p.S153*|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000377387.1_Nonsense_Mutation_p.S393*|SF1_ENST00000377394.3_Nonsense_Mutation_p.S268*	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	268					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S268L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCGGGTCTCTGAGCTCTGCCA	0.488																																						uc001obb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(802-804)TCA>TGA		splicing factor 1 isoform 1							132.0	137.0	136.0					11																	64536578		2201	4297	6498	SO:0001587	stop_gained	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64536578G>C	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.803C>G	11.37:g.64536578G>C	ENSP00000366607:p.Ser268*					SF1_uc010rnm.1_5'UTR|SF1_uc010rnn.1_Nonsense_Mutation_p.S242*|SF1_uc001oaz.1_Nonsense_Mutation_p.S393*|SF1_uc001oba.1_Nonsense_Mutation_p.S268*|SF1_uc001obc.1_Nonsense_Mutation_p.S268*|SF1_uc001obd.1_Nonsense_Mutation_p.S268*|SF1_uc001obe.1_Nonsense_Mutation_p.S153*|SF1_uc010rno.1_Nonsense_Mutation_p.S153*	p.S268*	NM_004630	NP_004621	Q15637	SF01_HUMAN			8	1180	-			268					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Nonsense_Mutation	SNP	ENST00000377390.3	37	c.803C>G	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	G	41	8.775807	0.98950	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	.	.	.	5.81	5.81	0.92471	.	0.268407	0.37809	N	0.001935	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5751	0.87946	0.0:0.0:1.0:0.0	.	.	.	.	X	393;268;268;268;268;153;242	.	ENSP00000227503:S268X	S	-	2	0	SF1	64293154	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	9.384000	0.97219	2.752000	0.94435	0.557000	0.71058	TCA		0.488	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		16	82	0	0	0	0	16	82				
CFL1	1072	broad.mit.edu	37	11	65623593	65623593	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:65623593C>T	ENST00000525451.2	-	3	839	c.124G>A	c.(124-126)Gag>Aag	p.E42K	CFL1_ENST00000527344.1_Missense_Mutation_p.E25K|CFL1_ENST00000534769.1_Missense_Mutation_p.E80K|CFL1_ENST00000308162.5_Missense_Mutation_p.E42K|CFL1_ENST00000531413.1_Missense_Mutation_p.E25K|CFL1_ENST00000524553.1_Missense_Mutation_p.E25K|CFL1_ENST00000531407.1_Missense_Mutation_p.E25K			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	42	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin cytoskeleton organization (GO:0030036)|actin filament depolymerization (GO:0030042)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytoskeleton organization (GO:0007010)|establishment of cell polarity (GO:0030010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|mitotic cytokinesis (GO:0000281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell size (GO:0045792)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament depolymerization (GO:0030836)|protein import into nucleus (GO:0006606)|protein phosphorylation (GO:0006468)|regulation of cell morphogenesis (GO:0022604)|response to amino acid (GO:0043200)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		TTCTTGTCCTCACTCAGGCAG	0.547																																					Esophageal Squamous(90;820 1366 3932 32351 42291)	uc001ofs.2		NA																	0					0						c.(124-126)GAG>AAG		cofilin 1 (non-muscle)							117.0	102.0	107.0					11																	65623593		2201	4297	6498	SO:0001583	missense	1072				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr11:65623593C>T	X95404	CCDS8114.1	11q13.1	2010-12-03			ENSG00000172757	ENSG00000172757			1874	protein-coding gene	gene with protein product		601442		CFL		8800436	Standard	NM_005507		Approved		uc001ofs.3	P23528		ENST00000525451.2:c.124G>A	11.37:g.65623593C>T	ENSP00000432660:p.Glu42Lys					CFL1_uc001oft.2_Missense_Mutation_p.E42K|CFL1_uc001ofu.2_3'UTR	p.E42K	NM_005507	NP_005498	P23528	COF1_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	2	358	-			42			ADF-H.		B3KUQ1|Q53Y87|Q9UCA2	Missense_Mutation	SNP	ENST00000525451.2	37	c.124G>A	CCDS8114.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265182	0.59431	.	.	ENSG00000172757	ENST00000525451;ENST00000308162;ENST00000527344;ENST00000531407;ENST00000524553;ENST00000534769;ENST00000531413;ENST00000532134;ENST00000530413;ENST00000534784;ENST00000526975	T;T;T;T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	4.0	4.0	0.46444	Actin-binding, cofilin/tropomyosin type (3);	0.276160	0.34484	N	0.003923	T	0.32315	0.0825	L	0.39397	1.21	0.80722	D	1	B	0.15141	0.012	B	0.25884	0.064	T	0.13764	-1.0497	10	0.44086	T	0.13	.	14.458	0.67431	0.0:1.0:0.0:0.0	.	42	P23528	COF1_HUMAN	K	42;42;25;25;25;80;25;42;25;25;42	ENSP00000432660:E42K;ENSP00000309629:E42K;ENSP00000432155:E25K;ENSP00000433910:E25K;ENSP00000432226:E25K;ENSP00000431696:E80K;ENSP00000433131:E25K;ENSP00000436431:E42K;ENSP00000436899:E25K;ENSP00000433308:E25K;ENSP00000432153:E42K	ENSP00000309629:E42K	E	-	1	0	CFL1	65380169	0.002000	0.14202	1.000000	0.80357	0.997000	0.91878	0.618000	0.24373	2.537000	0.85549	0.655000	0.94253	GAG		0.547	CFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390701.3	NM_005507		17	56	0	0	0	0	17	56				
IGHMBP2	3508	broad.mit.edu	37	11	68704300	68704300	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:68704300G>C	ENST00000255078.3	+	13	2463	c.2352G>C	c.(2350-2352)aaG>aaC	p.K784N		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	784	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.|SS DNA-binding. {ECO:0000250}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGTGAGCAAGAGGGCCCCGC	0.682																																						uc001ook.1		NA																	0					0						c.(2350-2352)AAG>AAC		immunoglobulin mu binding protein 2							44.0	43.0	43.0					11																	68704300		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68704300G>C	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2352G>C	11.37:g.68704300G>C	ENSP00000255078:p.Lys784Asn					IGHMBP2_uc001ool.1_Missense_Mutation_p.K408N|IGHMBP2_uc001oom.1_Missense_Mutation_p.K362N	p.K784N	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		13	2454	+			784			R3H.|SS DNA-binding (By similarity).		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.2352G>C	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282544	0.59867	.	.	ENSG00000132740	ENST00000255078	T	0.45276	0.9	4.32	3.38	0.38709	Single-stranded nucleic acid binding R3H (3);	2.578920	0.03624	U	0.236805	T	0.58221	0.2107	M	0.84156	2.68	0.80722	D	1	P	0.48162	0.906	P	0.49226	0.603	T	0.59968	-0.7354	10	0.52906	T	0.07	-27.7867	8.801	0.34909	0.1881:0.0:0.8119:0.0	.	784	P38935	SMBP2_HUMAN	N	784	ENSP00000255078:K784N	ENSP00000255078:K784N	K	+	3	2	IGHMBP2	68460876	1.000000	0.71417	0.798000	0.32154	0.692000	0.40212	3.801000	0.55545	2.131000	0.65755	0.555000	0.69702	AAG		0.682	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		5	17	0	0	0	0	5	17				
FCHSD2	9873	broad.mit.edu	37	11	72600885	72600885	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:72600885G>A	ENST00000409418.4	-	11	1413	c.1030C>T	c.(1030-1032)Cac>Tac	p.H344Y	FCHSD2_ENST00000311172.7_Missense_Mutation_p.H288Y|FCHSD2_ENST00000409314.1_Missense_Mutation_p.H368Y|FCHSD2_ENST00000409853.1_Missense_Mutation_p.H288Y|FCHSD2_ENST00000458644.2_Missense_Mutation_p.H208Y	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	344										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CGTTGTTGGTGAACAATGTTT	0.393																																						uc009ytl.2		NA																	0				ovary(1)	1						c.(1030-1032)CAC>TAC		FCH and double SH3 domains 2							163.0	133.0	143.0					11																	72600885		2200	4293	6493	SO:0001583	missense	9873						protein binding	g.chr11:72600885G>A	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1030C>T	11.37:g.72600885G>A	ENSP00000386722:p.His344Tyr					FCHSD2_uc010rrg.1_Missense_Mutation_p.H208Y|FCHSD2_uc001oth.3_Missense_Mutation_p.H288Y|FCHSD2_uc001oti.2_Missense_Mutation_p.H303Y	p.H344Y	NM_014824	NP_055639	O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		11	1251	-			344					B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	37	c.1030C>T	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120692	0.37436	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853	T;T;T;T;T	0.47177	2.44;2.58;2.58;2.45;0.85	5.79	4.86	0.63082	.	0.219085	0.46442	N	0.000283	T	0.49695	0.1572	M	0.66939	2.045	0.52099	D	0.999949	B;D;D	0.55385	0.002;0.971;0.962	B;P;P	0.45099	0.001;0.469;0.453	T	0.55503	-0.8131	10	0.62326	D	0.03	-30.0841	11.6893	0.51505	0.0889:0.0:0.9111:0.0	.	208;344;288	E7ENZ2;O94868;O94868-3	.;FCSD2_HUMAN;.	Y	288;368;344;208;288	ENSP00000308978:H288Y;ENSP00000386987:H368Y;ENSP00000386722:H344Y;ENSP00000402972:H208Y;ENSP00000386314:H288Y	ENSP00000308978:H288Y	H	-	1	0	FCHSD2	72278533	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	5.921000	0.70028	1.399000	0.46721	0.655000	0.94253	CAC		0.393	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		7	12	0	0	0	0	7	12				
PLEKHB1	58473	broad.mit.edu	37	11	73372592	73372592	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:73372592G>C	ENST00000354190.5	+	8	1108	c.677G>C	c.(676-678)gGa>gCa	p.G226A	PLEKHB1_ENST00000535129.1_Missense_Mutation_p.G172A|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.G121A|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.G207A|PLEKHB1_ENST00000227214.6_Missense_Mutation_p.G172A|Y_RNA_ENST00000516923.1_RNA|PLEKHB1_ENST00000398492.4_Missense_Mutation_p.G191A	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	226					multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						ATGCTTGCGGGAGCCGCCACT	0.692											OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oua.2		NA																	0				ovary(1)|lung(1)	2						c.(676-678)GGA>GCA		pleckstrin homology domain containing, family B							39.0	45.0	43.0					11																	73372592		1980	4144	6124	SO:0001583	missense	58473				multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity	g.chr11:73372592G>C	AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"""Pleckstrin homology (PH) domain containing"""	19079	protein-coding gene	gene with protein product		607651	"""PH domain containing, retinal 1"""	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.677G>C	11.37:g.73372592G>C	ENSP00000346127:p.Gly226Ala		OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1144	PLEKHB1_uc001oub.2_Missense_Mutation_p.G191A|PLEKHB1_uc001ouc.2_Missense_Mutation_p.G207A|PLEKHB1_uc001oud.2_Missense_Mutation_p.G172A|PLEKHB1_uc009ytq.2_Missense_Mutation_p.G172A	p.G226A	NM_021200	NP_067023	Q9UF11	PKHB1_HUMAN			8	1108	+			226					A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Missense_Mutation	SNP	ENST00000354190.5	37	c.677G>C	CCDS44672.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906409	0.92107	.	.	ENSG00000021300	ENST00000354190;ENST00000398492;ENST00000227214;ENST00000398494;ENST00000543085;ENST00000542185;ENST00000535129;ENST00000540431	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.71375	0.3332	L	0.54323	1.7	0.38116	D	0.937708	D;D;D	0.89917	0.999;0.998;1.0	D;P;D	0.83275	0.996;0.883;0.996	T	0.75631	-0.3251	9	0.72032	D	0.01	-9.4935	15.1153	0.72397	0.0:0.0:1.0:0.0	.	195;191;226	Q59EU5;Q9UF11-2;Q9UF11	.;.;PKHB1_HUMAN	A	226;191;172;207;121;142;172;179	.	ENSP00000227214:G172A	G	+	2	0	PLEKHB1	73050240	1.000000	0.71417	0.985000	0.45067	0.911000	0.54048	5.740000	0.68629	2.677000	0.91161	0.561000	0.74099	GGA		0.692	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1			7	62	0	0	0	0	7	62				
PGM2L1	283209	broad.mit.edu	37	11	74056565	74056565	+	Silent	SNP	G	G	C	rs371414257		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:74056565G>C	ENST00000298198.4	-	9	1478	c.1167C>G	c.(1165-1167)gtC>gtG	p.V389V		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	389					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTTTAGAAGAGACTGTGGTGG	0.333																																						uc001ovb.1		NA																	0				ovary(1)	1						c.(1165-1167)GTC>GTG		phosphoglucomutase 2-like 1							116.0	109.0	112.0					11																	74056565		2200	4293	6493	SO:0001819	synonymous_variant	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74056565G>C	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1167C>G	11.37:g.74056565G>C							p.V389V	NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN			9	1463	-	Breast(11;3.32e-06)		389					Q96MQ7|Q9UIK3	Silent	SNP	ENST00000298198.4	37	c.1167C>G	CCDS8231.1																																																																																				0.333	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		10	52	0	0	0	0	10	52				
OR2AT4	341152	broad.mit.edu	37	11	74799889	74799889	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:74799889G>C	ENST00000305159.3	-	1	910	c.870C>G	c.(868-870)ctC>ctG	p.L290L		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TGAGGGGGTTGAGAATTGGTG	0.483																																						uc010rro.1		NA																	0				ovary(1)	1						c.(868-870)CTC>CTG		olfactory receptor, family 2, subfamily AT,							151.0	131.0	138.0					11																	74799889		2200	4293	6493	SO:0001819	synonymous_variant	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74799889G>C	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.870C>G	11.37:g.74799889G>C							p.L290L	NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN			1	870	-			290			Helical; Name=7; (Potential).		B9EGZ8	Silent	SNP	ENST00000305159.3	37	c.870C>G	CCDS31639.1																																																																																				0.483	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		20	61	0	0	0	0	20	61				
MRE11A	4361	broad.mit.edu	37	11	94179020	94179020	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:94179020G>C	ENST00000323929.3	-	16	2045	c.1823C>G	c.(1822-1824)tCa>tGa	p.S608*	MRE11A_ENST00000393241.4_Nonsense_Mutation_p.S607*|MRE11A_ENST00000323977.3_Intron|MRE11A_ENST00000407439.3_Nonsense_Mutation_p.S611*	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	608					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AGCAGTCTTTGAGTTCCTGCT	0.378								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													uc001peu.2		NA																	0				breast(4)|lung(1)	5						c.(1822-1824)TCA>TGA	Homologous_recombination	meiotic recombination 11 homolog A isoform 1							103.0	107.0	106.0					11																	94179020		2201	4298	6499	SO:0001587	stop_gained	4361	Ataxia-Telangiectasia-Like_Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94179020G>C	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1823C>G	11.37:g.94179020G>C	ENSP00000325863:p.Ser608*					MRE11A_uc001pev.2_Intron|MRE11A_uc009ywj.2_Nonsense_Mutation_p.S611*	p.S608*	NM_005591	NP_005582	P49959	MRE11_HUMAN			16	2012	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	608					O43475	Nonsense_Mutation	SNP	ENST00000323929.3	37	c.1823C>G	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	G	36	5.922298	0.97105	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000393241	.	.	.	5.53	5.53	0.82687	.	0.410578	0.27792	N	0.017821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-13.0348	12.344	0.55109	0.0:0.0:0.8317:0.1683	.	.	.	.	X	608;611;607	.	ENSP00000325863:S608X	S	-	2	0	MRE11A	93818668	1.000000	0.71417	0.997000	0.53966	0.323000	0.28346	3.225000	0.51246	2.775000	0.95449	0.650000	0.86243	TCA		0.378	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		32	89	0	0	0	0	32	89				
BIRC3	330	broad.mit.edu	37	11	102195711	102195711	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:102195711G>A	ENST00000263464.3	+	2	3221	c.471G>A	c.(469-471)ttG>ttA	p.L157L	BIRC3_ENST00000532808.1_Silent_p.L157L	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	157					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TTTCTGCCTTGATGAGAAGTT	0.408			T	MALT1	MALT																																	uc001pgx.2		NA		Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		0				ovary(3)|skin(1)	4						c.(469-471)TTG>TTA		baculoviral IAP repeat-containing protein 3							133.0	137.0	136.0					11																	102195711		2203	4299	6502	SO:0001819	synonymous_variant	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102195711G>A	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.471G>A	11.37:g.102195711G>A							p.L157L	NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	3	693	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	157					Q16628|Q9HC27|Q9UP46	Silent	SNP	ENST00000263464.3	37	c.471G>A	CCDS8315.1																																																																																				0.408	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		49	150	0	0	0	0	49	150				
EXPH5	23086	broad.mit.edu	37	11	108384448	108384448	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:108384448C>T	ENST00000265843.4	-	6	1896	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	EXPH5_ENST00000443411.1_Missense_Mutation_p.E408K|EXPH5_ENST00000525344.1_Missense_Mutation_p.E589K|EXPH5_ENST00000428840.1_Missense_Mutation_p.E520K|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	596					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTACCAACTCACTAGATTTG	0.418																																						uc001pkk.2		NA																	0				skin(3)|ovary(2)	5						c.(1786-1788)GAG>AAG		exophilin 5 isoform a							100.0	94.0	96.0					11																	108384448		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384448C>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1786G>A	11.37:g.108384448C>T	ENSP00000265843:p.Glu596Lys					EXPH5_uc010rvy.1_Missense_Mutation_p.E408K|EXPH5_uc010rvz.1_Missense_Mutation_p.E440K|EXPH5_uc010rwa.1_Missense_Mutation_p.E520K	p.E596K	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	1897	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	596					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.1786G>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648623	0.29336	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.03860	4.33;4.26;4.11;4.33;4.18;3.78	5.62	1.11	0.20524	.	0.826922	0.10744	N	0.639079	T	0.02649	0.0080	N	0.22421	0.69	0.09310	N	1	B	0.22480	0.07	B	0.18871	0.023	T	0.46898	-0.9158	10	0.06625	T	0.88	-1.419	4.0629	0.09847	0.0:0.528:0.1744:0.2975	.	596	Q8NEV8	EXPH5_HUMAN	K	596;520;408;589;440;520;408	ENSP00000265843:E596K;ENSP00000391966:E520K;ENSP00000411390:E408K;ENSP00000432546:E589K;ENSP00000432683:E520K;ENSP00000446434:E408K	ENSP00000265843:E596K	E	-	1	0	EXPH5	107889658	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	0.121000	0.15667	0.716000	0.32124	0.467000	0.42956	GAG		0.418	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		6	85	0	0	0	0	6	85				
FDX1	2230	broad.mit.edu	37	11	110306635	110306635	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:110306635C>T	ENST00000260270.2	+	2	501	c.263C>T	c.(262-264)tCt>tTt	p.S88F		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	88	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				cholesterol metabolic process (GO:0008203)|hormone biosynthetic process (GO:0042446)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	GTTGGTGATTCTCTGCTAGAT	0.323																																						uc001pkx.2		NA																	0					0						c.(262-264)TCT>TTT		ferredoxin 1 precursor	Mitotane(DB00648)						115.0	118.0	117.0					11																	110306635		2201	4298	6499	SO:0001583	missense	2230				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding	g.chr11:110306635C>T	M23668	CCDS8344.1	11q22.3	2008-02-01			ENSG00000137714	ENSG00000137714			3638	protein-coding gene	gene with protein product	"""adrenodoxin"""	103260		FDX		2969697	Standard	NM_004109		Approved	ADX	uc001pkx.3	P10109	OTTHUMG00000166589	ENST00000260270.2:c.263C>T	11.37:g.110306635C>T	ENSP00000260270:p.Ser88Phe						p.S88F	NM_004109	NP_004100	P10109	ADX_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	2	514	+		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	88			2Fe-2S ferredoxin-type.		B0YJ14|Q53YD6	Missense_Mutation	SNP	ENST00000260270.2	37	c.263C>T	CCDS8344.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680268	0.88542	.	.	ENSG00000137714	ENST00000260270	.	.	.	5.76	5.76	0.90799	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.232106	0.46442	D	0.000297	D	0.86087	0.5849	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87731	0.2579	9	0.87932	D	0	-35.8019	20.3431	0.98773	0.0:1.0:0.0:0.0	.	88	P10109	ADX_HUMAN	F	88	.	ENSP00000260270:S88F	S	+	2	0	FDX1	109811845	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.012000	0.64017	2.880000	0.98712	0.650000	0.86243	TCT		0.323	FDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390590.1	NM_004109		12	39	0	0	0	0	12	39				
DRD2	1813	broad.mit.edu	37	11	113281596	113281596	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:113281596C>T	ENST00000362072.3	-	8	1529	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L	DRD2_ENST00000538967.1_Silent_p.L397L|DRD2_ENST00000544518.1_Silent_p.L394L|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Silent_p.L366L|DRD2_ENST00000542968.1_Silent_p.L395L|DRD2_ENST00000355319.2_Silent_p.L397L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	395					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGTGTATGTTCAGGATGTGTG	0.602																																						uc001pnz.2		NA																	0				pancreas(1)|skin(1)	2						c.(1183-1185)CTG>CTA		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						206.0	150.0	169.0					11																	113281596		2201	4296	6497	SO:0001819	synonymous_variant	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113281596C>T	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.1185G>A	11.37:g.113281596C>T						DRD2_uc010rwv.1_Silent_p.L394L|DRD2_uc001poa.3_Silent_p.L395L|DRD2_uc001pob.3_Silent_p.L366L	p.L395L	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	7	1506	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	395			Helical; Name=6; (By similarity).		Q9NZR3|Q9UPA9	Silent	SNP	ENST00000362072.3	37	c.1185G>A	CCDS8361.1																																																																																				0.602	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		12	42	0	0	0	0	12	42				
KMT2A	4297	broad.mit.edu	37	11	118361969	118361969	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:118361969G>A	ENST00000389506.5	+	14	4755	c.4755G>A	c.(4753-4755)atG>atA	p.M1585I	KMT2A_ENST00000534358.1_Missense_Mutation_p.M1585I|KMT2A_ENST00000354520.4_Missense_Mutation_p.M1547I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1585					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGAGTAAGATGATGCAATGTG	0.398																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(4753-4755)ATG>ATA		myeloid/lymphoid or mixed-lineage leukemia							223.0	202.0	209.0					11																	118361969		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118361969G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4755G>A	11.37:g.118361969G>A	ENSP00000374157:p.Met1585Ile					MLL_uc001ptb.2_Missense_Mutation_p.M1585I|MLL_uc001pte.1_RNA	p.M1585I	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	14	4778	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1585			PHD-type 3.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.4755G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451099	0.84209	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	T;T;T;D	0.88124	-0.27;-0.27;-0.27;-2.34	5.52	5.52	0.82312	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93700	0.7987	M	0.77406	2.37	0.80722	D	1	D;D	0.59357	0.976;0.985	D;D	0.72338	0.977;0.977	D	0.94055	0.7321	10	0.87932	D	0	.	19.4584	0.94904	0.0:0.0:1.0:0.0	.	1585;1585	E9PQG7;Q03164	.;MLL1_HUMAN	I	1585;1585;1547;495;297	ENSP00000436786:M1585I;ENSP00000374157:M1585I;ENSP00000346516:M1547I;ENSP00000376612:M297I	ENSP00000346516:M1547I	M	+	3	0	MLL	117867179	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.581000	0.87130	0.655000	0.94253	ATG		0.398	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		33	107	0	0	0	0	33	107				
NTM	50863	broad.mit.edu	37	11	132082033	132082033	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr11:132082033C>G	ENST00000374786.1	+	3	997	c.518C>G	c.(517-519)tCt>tGt	p.S173C	NTM_ENST00000539799.1_Missense_Mutation_p.S173C|NTM_ENST00000374784.1_Missense_Mutation_p.S173C|NTM_ENST00000425719.2_Missense_Mutation_p.S173C|NTM_ENST00000374791.3_Missense_Mutation_p.S173C|NTM_ENST00000427481.2_Missense_Mutation_p.S164C|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	173	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGACACATCTCTCCCAAAGGT	0.443																																						uc001qgp.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(517-519)TCT>TGT		neurotrimin isoform 1							154.0	153.0	154.0					11																	132082033		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132082033C>G	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.518C>G	11.37:g.132082033C>G	ENSP00000363918:p.Ser173Cys					NTM_uc001qgm.2_Missense_Mutation_p.S173C|NTM_uc010sch.1_Missense_Mutation_p.S164C|NTM_uc010sci.1_Missense_Mutation_p.S173C|NTM_uc010scj.1_Missense_Mutation_p.S132C|NTM_uc001qgo.2_Missense_Mutation_p.S173C|NTM_uc001qgq.2_Missense_Mutation_p.S173C|NTM_uc001qgr.2_5'UTR	p.S173C	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			3	1182	+			173			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.518C>G	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919997	0.73098	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.36699	1.6;1.6;1.24;1.6;1.6;1.6;1.6	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.054289	0.85682	D	0.000000	T	0.69931	0.3166	M	0.91972	3.26	0.58432	D	0.999993	D;D;D;D;D;D	0.76494	0.999;0.998;0.995;0.996;0.995;0.999	D;D;D;D;D;D	0.70935	0.971;0.971;0.917;0.95;0.917;0.951	T	0.75725	-0.3217	10	0.87932	D	0	-23.2056	20.3473	0.98799	0.0:1.0:0.0:0.0	.	173;164;173;173;173;173	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	C	173;173;164;164;173;173;173	ENSP00000363923:S173C;ENSP00000437668:S173C;ENSP00000448104:S164C;ENSP00000416320:S164C;ENSP00000363918:S173C;ENSP00000396722:S173C;ENSP00000363916:S173C	ENSP00000363916:S173C	S	+	2	0	NTM	131587243	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.277000	0.65586	2.884000	0.98904	0.655000	0.94253	TCT		0.443	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		18	66	0	0	0	0	18	66				
NANOG	79923	broad.mit.edu	37	12	7942253	7942253	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:7942253G>C	ENST00000229307.4	+	1	262	c.43G>C	c.(43-45)Gaa>Caa	p.E15Q	NANOG_ENST00000526286.1_Missense_Mutation_p.E15Q	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	15					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		GCCTTGCTTTGAAGCATCCGA	0.438																																						uc009zfy.1		NA																	0					0						c.(43-45)GAA>CAA		Nanog homeobox							166.0	152.0	157.0					12																	7942253		2203	4300	6503	SO:0001583	missense	79923				cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:7942253G>C	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"""Homeoboxes / ANTP class : NKL subclass"""	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.43G>C	12.37:g.7942253G>C	ENSP00000229307:p.Glu15Gln						p.E15Q	NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN		Kidney(36;0.0872)	1	259	+			15					D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP	ENST00000229307.4	37	c.43G>C	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	.	9.240	1.037990	0.19669	.	.	ENSG00000111704	ENST00000229307;ENST00000526286	D;D	0.91631	-2.88;-2.86	3.24	1.35	0.21983	.	0.322217	0.25060	N	0.033452	D	0.85013	0.5600	L	0.43152	1.355	0.09310	N	1	P	0.35192	0.489	B	0.34779	0.189	T	0.73855	-0.3851	10	0.32370	T	0.25	-6.5459	4.616	0.12427	0.1277:0.2264:0.6458:0.0	.	15	Q9H9S0	NANOG_HUMAN	Q	15	ENSP00000229307:E15Q;ENSP00000435288:E15Q	ENSP00000229307:E15Q	E	+	1	0	NANOG	7833520	0.001000	0.12720	0.011000	0.14972	0.009000	0.06853	0.436000	0.21526	0.367000	0.24454	0.462000	0.41574	GAA		0.438	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865		9	105	0	0	0	0	9	105				
TAS2R46	259292	broad.mit.edu	37	12	11214128	11214128	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:11214128C>G	ENST00000533467.1	-	1	765	c.766G>C	c.(766-768)Gaa>Caa	p.E256Q	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	256					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GGTTTGTTTTCCAGACTCTCA	0.423																																						uc001qzp.1		NA																	0				ovary(1)	1						c.(766-768)GAA>CAA		taste receptor, type 2, member 46							184.0	194.0	191.0					12																	11214128		2201	4300	6501	SO:0001583	missense	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214128C>G	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.766G>C	12.37:g.11214128C>G	ENSP00000436450:p.Glu256Gln					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.E256Q	NM_176887	NP_795368	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	766	-			256			Extracellular (Potential).		P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	c.766G>C	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.103745	0.00356	.	.	ENSG00000226761	ENST00000533467	T	0.00776	5.71	2.34	-3.5	0.04710	.	.	.	.	.	T	0.00356	0.0011	N	0.04260	-0.245	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.44097	-0.9350	9	0.02654	T	1	.	2.6527	0.05003	0.1393:0.4842:0.2146:0.1619	.	256	P59540	T2R46_HUMAN	Q	256	ENSP00000436450:E256Q	ENSP00000436450:E256Q	E	-	1	0	TAS2R46	11105395	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.380000	0.02551	-0.496000	0.06650	0.194000	0.17425	GAA		0.423	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		18	126	0	0	0	0	18	126				
LRP6	4040	broad.mit.edu	37	12	12284896	12284896	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:12284896C>T	ENST00000261349.4	-	18	3905	c.3829G>A	c.(3829-3831)Gaa>Aaa	p.E1277K	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Intron|LRP6_ENST00000540415.1_5'UTR	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1277	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTGTGGTCTTCACATTCAGTA	0.498																																						uc001rah.3		NA																	0				lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(3829-3831)GAA>AAA		low density lipoprotein receptor-related protein							122.0	103.0	110.0					12																	12284896		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12284896C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3829G>A	12.37:g.12284896C>T	ENSP00000261349:p.Glu1277Lys					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Intron	p.E1277K	NM_002336	NP_002327	O75581	LRP6_HUMAN			18	3971	-		Prostate(47;0.0865)	1277			Extracellular (Potential).|LDL-receptor class A 1.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3829G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112116	0.56398	.	.	ENSG00000070018	ENST00000261349	D	0.95377	-3.69	5.92	5.92	0.95590	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000007	D	0.91126	0.7206	N	0.12831	0.26	0.80722	D	1	B	0.26809	0.16	B	0.36766	0.232	D	0.86533	0.1823	10	0.06236	T	0.91	.	20.3081	0.98638	0.0:1.0:0.0:0.0	.	1277	O75581	LRP6_HUMAN	K	1277	ENSP00000261349:E1277K	ENSP00000261349:E1277K	E	-	1	0	LRP6	12176163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.757000	0.68766	2.795000	0.96236	0.655000	0.94253	GAA		0.498	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			11	51	0	0	0	0	11	51				
ABCC9	10060	broad.mit.edu	37	12	22015908	22015908	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:22015908C>T	ENST00000261201.4	-	18	2317	c.2318G>A	c.(2317-2319)gGa>gAa	p.G773E	ABCC9_ENST00000261200.4_Missense_Mutation_p.G773E|ABCC9_ENST00000345162.2_Missense_Mutation_p.G737E|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	773	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAAAGGACTTCCAAAAGTAAT	0.343																																						uc001rfi.1		NA																	0				ovary(4)|skin(2)	6						c.(2317-2319)GGA>GAA		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						65.0	68.0	67.0					12																	22015908		2203	4298	6501	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22015908C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2318G>A	12.37:g.22015908C>T	ENSP00000261201:p.Gly773Glu					ABCC9_uc001rfh.2_Missense_Mutation_p.G773E|ABCC9_uc001rfj.1_Missense_Mutation_p.G737E	p.G773E	NM_005691	NP_005682	O60706	ABCC9_HUMAN			18	2338	-			773			Cytoplasmic (Potential).|ABC transporter 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2318G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235755	0.58886	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	5.44	5.44	0.79542	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	M	0.86573	2.825	0.80722	D	1	B;D	0.89917	0.329;1.0	B;D	0.87578	0.4;0.998	D	0.95389	0.8480	10	0.34782	T	0.22	-13.5319	19.6299	0.95698	0.0:1.0:0.0:0.0	.	773;773	O60706;O60706-2	ABCC9_HUMAN;.	E	773;400;773;737	ENSP00000261200:G773E;ENSP00000440521:G400E;ENSP00000261201:G773E;ENSP00000261202:G737E	ENSP00000261200:G773E	G	-	2	0	ABCC9	21907175	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.903000	0.69877	2.723000	0.93209	0.591000	0.81541	GGA		0.343	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		5	27	0	0	0	0	5	27				
TSPAN11	441631	broad.mit.edu	37	12	31116785	31116785	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:31116785G>A	ENST00000261177.9	+	3	168	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	TSPAN11_ENST00000535215.1_5'UTR|TSPAN11_ENST00000546076.1_Missense_Mutation_p.V37M|TSPAN11_ENST00000544427.1_Missense_Mutation_p.V27M	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	37						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CGTCCTGGCTGTGGGCATCTG	0.662																																						uc010sju.1		NA																	0					0						c.(109-111)GTG>ATG		tetraspanin 11							90.0	79.0	83.0					12																	31116785		2203	4300	6503	SO:0001583	missense	441631					integral to membrane		g.chr12:31116785G>A		CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"""Tetraspanins"""	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.109G>A	12.37:g.31116785G>A	ENSP00000261177:p.Val37Met					TSPAN11_uc001rjp.2_Missense_Mutation_p.V37M|TSPAN11_uc010sjv.1_Missense_Mutation_p.V27M	p.V37M	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN			3	489	+	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		37			Helical; (Potential).		A1L158|B2RUX6	Missense_Mutation	SNP	ENST00000261177.9	37	c.109G>A	CCDS31765.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724400	0.68959	.	.	ENSG00000110900	ENST00000546076;ENST00000544427;ENST00000261177	T;T;T	0.80909	-1.43;-1.43;-1.43	3.5	2.58	0.30949	.	0.082064	0.48286	U	0.000182	D	0.87815	0.6272	M	0.91459	3.21	0.51767	D	0.999939	P;P	0.45283	0.855;0.593	P;P	0.52481	0.598;0.7	D	0.88254	0.2918	10	0.87932	D	0	.	10.6669	0.45736	0.0:0.1972:0.8028:0.0	.	27;37	F5H0F0;A1L157	.;TSN11_HUMAN	M	37;27;37	ENSP00000437403:V37M;ENSP00000439895:V27M;ENSP00000261177:V37M	ENSP00000261177:V37M	V	+	1	0	TSPAN11	31008052	1.000000	0.71417	0.993000	0.49108	0.798000	0.45092	7.226000	0.78060	0.553000	0.29044	0.457000	0.33378	GTG		0.662	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	XM_497334		20	52	0	0	0	0	20	52				
ABCD2	225	broad.mit.edu	37	12	39947792	39947792	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:39947792C>G	ENST00000308666.3	-	10	2280	c.2145G>C	c.(2143-2145)caG>caC	p.Q715H		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	715					fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CATTGAGTCTCTGCTGCATTT	0.343																																						uc001rmb.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(2143-2145)CAG>CAC		ATP-binding cassette, sub-family D, member 2							86.0	82.0	83.0					12																	39947792		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:39947792C>G	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.2145G>C	12.37:g.39947792C>G	ENSP00000310688:p.Gln715His						p.Q715H	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			10	2571	-			715					B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.2145G>C	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855528	0.32791	.	.	ENSG00000173208	ENST00000308666	D	0.94613	-3.47	5.1	1.23	0.21249	.	0.129021	0.53938	D	0.000052	D	0.88808	0.6537	L	0.36672	1.1	0.34900	D	0.746406	B	0.15141	0.012	B	0.15870	0.014	T	0.81219	-0.1032	9	.	.	.	-10.6812	9.9055	0.41372	0.0:0.7212:0.0:0.2788	.	715	Q9UBJ2	ABCD2_HUMAN	H	715	ENSP00000310688:Q715H	.	Q	-	3	2	ABCD2	38234059	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.650000	0.37292	0.023000	0.15187	0.655000	0.94253	CAG		0.343	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		6	37	0	0	0	0	6	37				
ADCY6	112	broad.mit.edu	37	12	49171950	49171950	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:49171950G>C	ENST00000307885.4	-	2	1649	c.955C>G	c.(955-957)Cag>Gag	p.Q319E	ADCY6_ENST00000552090.1_5'Flank|ADCY6_ENST00000550422.1_Missense_Mutation_p.Q319E|ADCY6_ENST00000357869.3_Missense_Mutation_p.Q319E	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	319					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)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|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)|negative regulation of neuron projection development (GO:0010977)|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)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CGGGTCTCCTGAAAGGCCTGG	0.632																																						uc001rsh.3		NA																	0					0						c.(955-957)CAG>GAG		adenylate cyclase 6 isoform a							77.0	60.0	66.0					12																	49171950		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49171950G>C		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.955C>G	12.37:g.49171950G>C	ENSP00000311405:p.Gln319Glu					ADCY6_uc001rsj.3_Missense_Mutation_p.Q319E|ADCY6_uc001rsi.3_Missense_Mutation_p.Q319E	p.Q319E	NM_015270	NP_056085	O43306	ADCY6_HUMAN			2	1615	-			319			Cytoplasmic (Potential).		Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.955C>G	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	g	18.72	3.684685	0.68157	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885;ENST00000548820	T;T;T	0.79554	-1.28;-1.28;-1.26	4.44	4.44	0.53790	.	0.145396	0.46442	D	0.000296	T	0.81446	0.4824	M	0.78049	2.395	0.58432	D	0.999998	B;B	0.11235	0.003;0.004	B;B	0.14578	0.011;0.005	T	0.80872	-0.1188	10	0.66056	D	0.02	.	16.3717	0.83364	0.0:0.0:1.0:0.0	.	319;319	O43306-2;O43306	.;ADCY6_HUMAN	E	319;319;319;42	ENSP00000350536:Q319E;ENSP00000446730:Q319E;ENSP00000311405:Q319E	ENSP00000311405:Q319E	Q	-	1	0	ADCY6	47458217	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.492000	0.97957	2.484000	0.83849	0.556000	0.70494	CAG		0.632	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		5	18	0	0	0	0	5	18				
PRPF40B	25766	broad.mit.edu	37	12	50027427	50027427	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:50027427C>G	ENST00000380281.1	+	8	586	c.522C>G	c.(520-522)gtC>gtG	p.V174V	PRPF40B_ENST00000261897.1_Silent_p.V168V|PRPF40B_ENST00000548825.2_Silent_p.V196V			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	174					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CAGTTCTAGTCAAACAAGAGG	0.537																																						uc001rur.1		NA																	0				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(520-522)GTC>GTG		Huntingtin interacting protein C isoform 1							103.0	103.0	103.0					12																	50027427		2203	4300	6503	SO:0001819	synonymous_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50027427C>G	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.522C>G	12.37:g.50027427C>G						PRPF40B_uc001rup.1_Silent_p.V196V|PRPF40B_uc001ruq.1_Silent_p.V168V|PRPF40B_uc001rus.1_Silent_p.V117V	p.V174V	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			8	586	+			174					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	ENST00000380281.1	37	c.522C>G																																																																																					0.537	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		4	46	0	0	0	0	4	46				
KRT74	121391	broad.mit.edu	37	12	52967185	52967185	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:52967185T>C	ENST00000305620.2	-	1	424	c.377A>G	c.(376-378)aAc>aGc	p.N126S	KRT74_ENST00000549343.1_Missense_Mutation_p.N126S	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	126	Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CAGCTCCACGTTGAGGGGGGC	0.597																																						uc001sap.1		NA																	0				ovary(1)|skin(1)	2						c.(376-378)AAC>AGC		keratin 6 irs4							100.0	99.0	99.0					12																	52967185		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52967185T>C	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.377A>G	12.37:g.52967185T>C	ENSP00000307240:p.Asn126Ser						p.N126S	NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	1	425	-			126			Head.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.377A>G	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.004472	0.35320	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	T;T	0.77098	-1.07;-1.07	4.39	3.24	0.37175	.	0.000000	0.38111	N	0.001817	T	0.78175	0.4242	M	0.89287	3.02	0.09310	N	1	B	0.26975	0.165	B	0.29077	0.098	T	0.72643	-0.4231	10	0.66056	D	0.02	.	5.9015	0.18970	0.0:0.1601:0.1413:0.6985	.	126	Q7RTS7	K2C74_HUMAN	S	126	ENSP00000447447:N126S;ENSP00000307240:N126S	ENSP00000307240:N126S	N	-	2	0	KRT74	51253452	0.001000	0.12720	0.898000	0.35279	0.991000	0.79684	1.135000	0.31454	0.804000	0.34136	0.454000	0.30748	AAC		0.597	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		26	65	0	0	0	0	26	65				
ESYT1	23344	broad.mit.edu	37	12	56531676	56531676	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:56531676G>C	ENST00000394048.5	+	19	2440	c.2176G>C	c.(2176-2178)Gac>Cac	p.D726H	ESYT1_ENST00000541590.1_Missense_Mutation_p.D736H|ESYT1_ENST00000267113.4_Missense_Mutation_p.D736H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	726	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CAAGGACTTGGACAAGGATGA	0.488																																						uc001sjq.2		NA																	0				ovary(4)|skin(1)	5						c.(2176-2178)GAC>CAC		extended synaptotagmin-like protein 1							136.0	133.0	134.0					12																	56531676		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56531676G>C	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2176G>C	12.37:g.56531676G>C	ENSP00000377612:p.Asp726His					ESYT1_uc001sjr.2_Missense_Mutation_p.D736H	p.D726H	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN			19	2226	+			726			C2 3.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.2176G>C	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779351	0.90195	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.09445	2.98;2.98;2.98	4.84	4.84	0.62591	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.093468	0.64402	D	0.000001	T	0.34337	0.0894	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.02975	-1.1087	10	0.51188	T	0.08	-23.8445	15.8419	0.78852	0.0:0.0:1.0:0.0	.	736;726	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	H	726;680;736;736	ENSP00000377612:D726H;ENSP00000267113:D736H;ENSP00000445952:D736H	ENSP00000267113:D736H	D	+	1	0	ESYT1	54817943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.891000	0.92485	2.681000	0.91329	0.561000	0.74099	GAC		0.488	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		18	53	0	0	0	0	18	53				
SLC26A10	65012	broad.mit.edu	37	12	58018660	58018660	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:58018660C>T	ENST00000320442.4	+	10	1550	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	SLC26A10_ENST00000379218.2_Missense_Mutation_p.S449F|SLC26A10_ENST00000490243.1_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	413	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.					integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCCTCCAGGTCCCGGGGCTCT	0.587																																						uc001spe.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1237-1239)GTC>GTT		solute carrier family 26, member 10							93.0	92.0	92.0					12																	58018660		2203	4300	6503	SO:0001819	synonymous_variant	65012					integral to membrane	antiporter activity	g.chr12:58018660C>T		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1239C>T	12.37:g.58018660C>T						SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_RNA	p.V413V	NM_133489	NP_597996	Q8NG04	S2610_HUMAN			10	1550	+	Melanoma(17;0.122)		413			STAS.		A6NMJ2|B6ZDQ3|Q6ZWI7	Silent	SNP	ENST00000320442.4	37	c.1239C>T	CCDS8949.2	.	.	.	.	.	.	.	.	.	.	.	13.58	2.279270	0.40294	.	.	ENSG00000135502	ENST00000379218	D	0.94184	-3.37	4.83	-0.447	0.12234	.	.	.	.	.	D	0.92538	0.7630	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.88529	0.3101	6	0.87932	D	0	.	4.5902	0.12302	0.0:0.4252:0.1774:0.3974	.	.	.	.	F	449	ENSP00000368520:S449F	ENSP00000368520:S449F	S	+	2	0	SLC26A10	56304927	0.990000	0.36364	0.957000	0.39632	0.975000	0.68041	0.428000	0.21395	-0.018000	0.14079	0.561000	0.74099	TCC		0.587	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			19	69	0	0	0	0	19	69				
MSRB3	253827	broad.mit.edu	37	12	65722331	65722331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:65722331C>T	ENST00000355192.3	+	3	358	c.232C>T	c.(232-234)Cac>Tac	p.H78Y	MSRB3_ENST00000308259.5_Missense_Mutation_p.H71Y|MSRB3_ENST00000540804.1_Missense_Mutation_p.H78Y|MSRB3_ENST00000535664.1_Missense_Mutation_p.H71Y	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	78					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		ATACACACATCACAAAGATCC	0.299																																						uc001ssn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(232-234)CAC>TAC		methionine sulfoxide reductase B3 isoform 1							149.0	150.0	149.0					12																	65722331		2203	4297	6500	SO:0001583	missense	253827				protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	g.chr12:65722331C>T	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.232C>T	12.37:g.65722331C>T	ENSP00000347324:p.His78Tyr					MSRB3_uc001ssm.2_Missense_Mutation_p.H71Y|MSRB3_uc009zqp.2_Missense_Mutation_p.H71Y	p.H78Y	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)	3	293	+			78					B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	c.232C>T	CCDS8973.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.13|11.13	1.546845|1.546845	0.27652|0.27652	.|.	.|.	ENSG00000174099|ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000540804;ENST00000535664;ENST00000538045;ENST00000535239|ENST00000541189;ENST00000446731	T;T;T;T;T;T|.	0.76839|.	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Mss4-like (1);Methionine sulphoxide reductase B (4);|.	0.048133|.	0.85682|.	D|.	0.000000|.	T|T	0.64549|0.64549	0.2608|0.2608	L|L	0.54323|0.54323	1.7|1.7	0.53005|0.53005	D|D	0.99996|0.99996	P;B|.	0.36392|.	0.551;0.145|.	B;B|.	0.33042|.	0.157;0.075|.	T|T	0.61549|0.61549	-0.7040|-0.7040	9|5	.|.	.|.	.|.	.|.	14.2954|14.2954	0.66308|0.66308	0.1487:0.8513:0.0:0.0|0.1487:0.8513:0.0:0.0	.|.	78;71|.	Q8IXL7;Q8IXL7-2|.	MSRB3_HUMAN;.|.	Y|L	78;71;78;71;71;71|86;29	ENSP00000347324:H78Y;ENSP00000312274:H71Y;ENSP00000437623:H78Y;ENSP00000441650:H71Y;ENSP00000442620:H71Y;ENSP00000445843:H71Y|.	.|.	H|S	+|+	1|2	0|0	MSRB3|MSRB3	64008598|64008598	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.824000|4.824000	0.62701|0.62701	2.607000|2.607000	0.88179|0.88179	0.557000|0.557000	0.71058|0.71058	CAC|TCA		0.299	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080		9	46	0	0	0	0	9	46				
CAND1	55832	broad.mit.edu	37	12	67699870	67699870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:67699870C>T	ENST00000545606.1	+	10	2859	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	808					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)		TGCCCTTACTCGAGCATGCCC	0.443																																						uc001stn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2422-2424)CGA>TGA		TIP120 protein							95.0	86.0	89.0					12																	67699870		2203	4300	6503	SO:0001587	stop_gained	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.chr12:67699870C>T		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.2422C>T	12.37:g.67699870C>T	ENSP00000442318:p.Arg808*					CAND1_uc001sto.2_Nonsense_Mutation_p.R318*	p.R808*	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)	10	2859	+			808			HEAT 18.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Nonsense_Mutation	SNP	ENST00000545606.1	37	c.2422C>T	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	40	8.386410	0.98789	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	.	.	.	5.62	4.73	0.59995	.	0.062110	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.1944	14.372	0.66846	0.0:0.9292:0.0:0.0708	.	.	.	.	X	808;808;348	.	.	R	+	1	2	CAND1	65986137	0.955000	0.32602	1.000000	0.80357	0.971000	0.66376	1.362000	0.34148	1.385000	0.46445	0.650000	0.86243	CGA		0.443	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		31	50	0	0	0	0	31	50				
PTPRB	5787	broad.mit.edu	37	12	70983837	70983837	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:70983837C>T	ENST00000261266.5	-	6	1332	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	PTPRB_ENST00000551525.1_Missense_Mutation_p.D652N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Missense_Mutation_p.D653N|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000550358.1_Missense_Mutation_p.D653N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D435N|PTPRB_ENST00000550857.1_Intron	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	435	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCCCCGTGTCATCCATGACA	0.493											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(1303-1305)GAC>AAC		protein tyrosine phosphatase, receptor type, B							152.0	155.0	154.0					12																	70983837		2012	4171	6183	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70983837C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1303G>A	12.37:g.70983837C>T	ENSP00000261266:p.Asp435Asn		OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1126	PTPRB_uc010sto.1_Missense_Mutation_p.D435N|PTPRB_uc010stp.1_Intron|PTPRB_uc001swc.3_Missense_Mutation_p.D653N|PTPRB_uc001swa.3_Missense_Mutation_p.D653N|PTPRB_uc001swd.3_Missense_Mutation_p.D652N|PTPRB_uc009zrr.1_Missense_Mutation_p.D532N	p.D435N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		6	1333	-	Renal(347;0.236)		435			Fibronectin type-III 5.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.1303G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	9.907	1.208521	0.22205	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41	5.53	4.58	0.56647	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.594152	0.18502	N	0.139338	T	0.51584	0.1683	M	0.62723	1.935	0.54753	D	0.999982	B;B;B;B;B;B	0.10296	0.001;0.002;0.001;0.002;0.001;0.003	B;B;B;B;B;B	0.18561	0.005;0.022;0.022;0.008;0.005;0.019	T	0.47315	-0.9127	10	0.30078	T	0.28	.	15.8276	0.78727	0.0:0.8641:0.1359:0.0	.	435;532;652;653;435;653	F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;PTPRB_HUMAN;.	N	653;653;653;435;435;652;532	ENSP00000334928:D653N;ENSP00000448058:D653N;ENSP00000438927:D435N;ENSP00000261266:D435N;ENSP00000448349:D652N;ENSP00000446982:D532N	ENSP00000261266:D435N	D	-	1	0	PTPRB	69270104	0.000000	0.05858	0.006000	0.13384	0.003000	0.03518	0.148000	0.16224	2.579000	0.87056	0.655000	0.94253	GAC		0.493	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			12	102	0	0	0	0	12	102				
KCNC2	3747	broad.mit.edu	37	12	75444683	75444683	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:75444683G>A	ENST00000549446.1	-	3	1782	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L	KCNC2_ENST00000341669.3_Silent_p.L368L|KCNC2_ENST00000550433.1_Silent_p.L368L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Silent_p.L368L|KCNC2_ENST00000298972.1_Silent_p.L368L|KCNC2_ENST00000548513.1_Silent_p.L368L|KCNC2_ENST00000540018.1_Silent_p.L368L|KCNC2_ENST00000350228.2_Silent_p.L368L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	368					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	AGCACCCTCAGACCTACAAAA	0.438																																						uc001sxg.1		NA																	0				breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(1102-1104)CTG>TTG		Shaw-related voltage-gated potassium channel							52.0	47.0	49.0					12																	75444683		2203	4300	6503	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444683G>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1102C>T	12.37:g.75444683G>A						KCNC2_uc009zry.2_Silent_p.L368L|KCNC2_uc001sxe.2_Silent_p.L368L|KCNC2_uc001sxf.2_Silent_p.L368L|KCNC2_uc010stw.1_Silent_p.L368L	p.L368L	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			3	1646	-			368			Helical; Voltage-sensor; Name=Segment S4; (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.1102C>T	CCDS9007.1																																																																																				0.438	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		19	25	0	0	0	0	19	25				
ACSS3	79611	broad.mit.edu	37	12	81613830	81613830	+	Silent	SNP	C	C	A	rs142377880		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:81613830C>A	ENST00000548058.1	+	11	2399	c.1489C>A	c.(1489-1491)Cgg>Agg	p.R497R	ACSS3_ENST00000548324.1_Silent_p.R179R|ACSS3_ENST00000261206.3_Silent_p.R496R			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	497						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ACTGAAGGCTCGGTGTTTAGG	0.269																																						uc001szl.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1489-1491)CGG>AGG		acyl-CoA synthetase short-chain family member 3							51.0	55.0	54.0					12																	81613830		2203	4300	6503	SO:0001819	synonymous_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81613830C>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1489C>A	12.37:g.81613830C>A						ACSS3_uc001szm.1_Silent_p.R496R|ACSS3_uc001szn.1_Silent_p.R179R	p.R497R	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			11	1580	+			497					Q8NC66	Silent	SNP	ENST00000548058.1	37	c.1489C>A	CCDS9022.1																																																																																				0.269	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		7	48	1	0	4.69e-08	5.03e-08	7	48				
FGD6	55785	broad.mit.edu	37	12	95478362	95478362	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:95478362C>G	ENST00000343958.4	-	20	4391	c.4168G>C	c.(4168-4170)Gag>Cag	p.E1390Q		NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1390	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCGGAATTCTCATCTTTAACT	0.343																																						uc001tdp.3		NA																	0		p.E1390D(1)		ovary(2)|breast(1)	3						c.(4168-4170)GAG>CAG		FYVE, RhoGEF and PH domain containing 6							96.0	104.0	101.0					12																	95478362		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95478362C>G	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.4168G>C	12.37:g.95478362C>G	ENSP00000344446:p.Glu1390Gln					FGD6_uc009zsx.2_Missense_Mutation_p.E523Q	p.E1390Q	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			20	4392	-			1390			PH 2.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.4168G>C	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615191	0.87359	.	.	ENSG00000180263	ENST00000343958	T	0.75260	-0.92	4.98	4.98	0.66077	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.45606	D	0.000342	D	0.83294	0.5223	M	0.64567	1.98	0.80722	D	1	D	0.60160	0.987	P	0.61592	0.891	D	0.84595	0.0669	10	0.54805	T	0.06	-9.4326	18.2654	0.90051	0.0:1.0:0.0:0.0	.	1390	Q6ZV73	FGD6_HUMAN	Q	1390	ENSP00000344446:E1390Q	ENSP00000344446:E1390Q	E	-	1	0	FGD6	94002493	1.000000	0.71417	0.999000	0.59377	0.740000	0.42216	7.487000	0.81328	2.295000	0.77249	0.491000	0.48974	GAG		0.343	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		25	39	0	0	0	0	25	39				
ACACB	32	broad.mit.edu	37	12	109613984	109613984	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:109613984G>C	ENST00000338432.7	+	9	1472	c.1353G>C	c.(1351-1353)ttG>ttC	p.L451F	ACACB_ENST00000377854.5_Missense_Mutation_p.L451F|ACACB_ENST00000377848.3_Missense_Mutation_p.L451F|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	451	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GTTTTCCATTGATGATCAAAG	0.512																																						uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(1351-1353)TTG>TTC		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						261.0	275.0	270.0					12																	109613984		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109613984G>C	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1353G>C	12.37:g.109613984G>C	ENSP00000341044:p.Leu451Phe					ACACB_uc001toc.2_Missense_Mutation_p.L451F	p.L451F	NM_001093	NP_001084	O00763	ACACB_HUMAN			9	1472	+			451			Biotin carboxylation.|ATP-grasp.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.1353G>C	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984800	0.74474	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.97232	-4.3;-4.3;-4.3	5.8	5.8	0.92144	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);Biotin carboxylation domain (1);	0.193882	0.43579	D	0.000544	D	0.97986	0.9337	M	0.75447	2.3	0.80722	D	1	P	0.50528	0.936	P	0.60068	0.868	D	0.98474	1.0602	10	0.87932	D	0	.	16.3088	0.82862	0.0:0.1321:0.8679:0.0	.	451	O00763	ACACB_HUMAN	F	451	ENSP00000341044:L451F;ENSP00000367079:L451F;ENSP00000367085:L451F	ENSP00000341044:L451F	L	+	3	2	ACACB	108098367	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	2.593000	0.46180	2.749000	0.94314	0.655000	0.94253	TTG		0.512	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		119	164	0	0	0	0	119	164				
IFT81	28981	broad.mit.edu	37	12	110628776	110628776	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:110628776G>C	ENST00000242591.5	+	13	1896	c.1390G>C	c.(1390-1392)Gag>Cag	p.E464Q	IFT81_ENST00000552912.1_Missense_Mutation_p.E464Q	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	464					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						CACCCAAGAAGAGCTAGAAAG	0.338																																						uc001tqi.2		NA																	0				ovary(1)	1						c.(1390-1392)GAG>CAG		intraflagellar transport 81-like isoform 1							113.0	107.0	109.0					12																	110628776		1853	4092	5945	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110628776G>C	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1390G>C	12.37:g.110628776G>C	ENSP00000242591:p.Glu464Gln					IFT81_uc001tqh.2_Missense_Mutation_p.E464Q|IFT81_uc001tqj.2_RNA	p.E464Q	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN			13	1520	+			464					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.1390G>C	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628049	0.87560	.	.	ENSG00000122970	ENST00000552912;ENST00000242591	T;T	0.14144	2.53;2.53	5.06	5.06	0.68205	.	0.092424	0.64402	D	0.000001	T	0.37320	0.0999	M	0.76838	2.35	0.80722	D	1	D	0.65815	0.995	D	0.65233	0.933	T	0.07790	-1.0754	10	0.25106	T	0.35	-16.514	18.8013	0.92018	0.0:0.0:1.0:0.0	.	464	Q8WYA0	IFT81_HUMAN	Q	464	ENSP00000449718:E464Q;ENSP00000242591:E464Q	ENSP00000242591:E464Q	E	+	1	0	IFT81	109113159	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	9.134000	0.94467	2.509000	0.84616	0.655000	0.94253	GAG		0.338	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		20	48	0	0	0	0	20	48				
FBXO21	23014	broad.mit.edu	37	12	117603392	117603392	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:117603392C>T	ENST00000330622.5	-	9	1223	c.1224G>A	c.(1222-1224)ctG>ctA	p.L408L	FBXO21_ENST00000427718.2_Silent_p.L408L			O94952	FBX21_HUMAN	F-box protein 21	408					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)	p.L408L(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GCGAGTCTCTCAGGAGCTGGT	0.507																																					GBM(168;452 2038 13535 17701 43680)	uc001twk.2		NA																	1	Substitution - coding silent(1)		breast(1)	kidney(1)	1						c.(1222-1224)CTG>CTA		F-box only protein 21 isoform 1							112.0	103.0	106.0					12																	117603392		2203	4300	6503	SO:0001819	synonymous_variant	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117603392C>T	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1224G>A	12.37:g.117603392C>T						FBXO21_uc001twj.2_Silent_p.L408L|FBXO21_uc009zwq.2_Silent_p.L348L|FBXO21_uc001twl.1_Silent_p.L21L	p.L408L	NM_033624	NP_296373	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	9	1263	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		408					B3KMF0|Q5BJG0|Q9H087	Silent	SNP	ENST00000330622.5	37	c.1224G>A	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100977	0.20552	.	.	ENSG00000135108	ENST00000550180	.	.	.	6.08	0.272	0.15645	.	.	.	.	.	T	0.56046	0.1959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49409	-0.8943	4	.	.	.	-16.7364	9.28	0.37722	0.0:0.4113:0.4149:0.1738	.	.	.	.	K	292	.	.	E	-	1	0	FBXO21	116087775	0.998000	0.40836	0.870000	0.34147	0.927000	0.56198	0.598000	0.24074	0.113000	0.18004	-0.137000	0.14449	GAG		0.507	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		7	59	0	0	0	0	7	59				
P2RX4	5025	broad.mit.edu	37	12	121670829	121670829	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:121670829C>T	ENST00000337233.4	+	11	1382	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	P2RX4_ENST00000359949.7_Silent_p.L374L|P2RX4_ENST00000543171.1_Silent_p.L257L	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	358					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCATAGTCCTCTACTGCATGA	0.507																																						uc001tzr.2		NA																	0					0						c.(1072-1074)CTC>CTT		purinergic receptor P2X4							197.0	214.0	209.0					12																	121670829		2203	4300	6503	SO:0001819	synonymous_variant	5025				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding	g.chr12:121670829C>T	Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.1074C>T	12.37:g.121670829C>T						P2RX4_uc009zxc.2_Silent_p.L331L|P2RX4_uc001tzs.2_Silent_p.L374L|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Silent_p.L257L	p.L358L	NM_002560	NP_002551	Q99571	P2RX4_HUMAN			11	1378	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		358			Helical; Name=2; (Potential).		E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Silent	SNP	ENST00000337233.4	37	c.1074C>T	CCDS9214.1																																																																																				0.507	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567		21	232	0	0	0	0	21	232				
P2RX4	5025	broad.mit.edu	37	12	121670850	121670850	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:121670850C>G	ENST00000337233.4	+	11	1403	c.1095C>G	c.(1093-1095)ctC>ctG	p.L365L	P2RX4_ENST00000359949.7_Silent_p.L381L|P2RX4_ENST00000543171.1_Silent_p.L264L	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	365					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAAAAGACTCTACTATCGGG	0.512																																						uc001tzr.2		NA																	0					0						c.(1093-1095)CTC>CTG		purinergic receptor P2X4							173.0	190.0	185.0					12																	121670850		2203	4300	6503	SO:0001819	synonymous_variant	5025				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding	g.chr12:121670850C>G	Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.1095C>G	12.37:g.121670850C>G						P2RX4_uc009zxc.2_Silent_p.L338L|P2RX4_uc001tzs.2_Silent_p.L381L|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Silent_p.L264L	p.L365L	NM_002560	NP_002551	Q99571	P2RX4_HUMAN			11	1399	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		365			Cytoplasmic (Potential).		E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Silent	SNP	ENST00000337233.4	37	c.1095C>G	CCDS9214.1																																																																																				0.512	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567		18	202	0	0	0	0	18	202				
UBC	7316	broad.mit.edu	37	12	125398224	125398224	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:125398224C>G	ENST00000538617.1	-	3	410	c.94G>C	c.(94-96)Gat>Cat	p.D32H	UBC_ENST00000339647.5_Missense_Mutation_p.D32H|UBC_ENST00000536661.1_5'UTR|UBC_ENST00000536769.1_Missense_Mutation_p.D32H|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Missense_Mutation_p.D32H			P0CG48	UBC_HUMAN	ubiquitin C	412	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCTTCCTTATCTTGGATCTTT	0.502																																						uc001ugs.3		NA																	0				ovary(2)	2						c.(94-96)GAT>CAT		ubiquitin C							216.0	203.0	208.0					12																	125398224		2203	4300	6503	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125398224C>G		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.94G>C	12.37:g.125398224C>G	ENSP00000443053:p.Asp32His					UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.D32H|UBC_uc001ugt.2_Missense_Mutation_p.D32H|UBC_uc001ugv.2_Missense_Mutation_p.D32H|UBC_uc001ugw.2_5'UTR|UBC_uc009zyf.1_RNA	p.D32H	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	2	542	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		32			Ubiquitin-like 1.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000538617.1	37	c.94G>C		.	.	.	.	.	.	.	.	.	.	-	15.92	2.974210	0.53720	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000538617;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000544656;ENST00000541272;ENST00000540351;ENST00000541645;ENST00000535131;ENST00000546271;ENST00000540700;ENST00000535859;ENST00000542416	T;T;T;T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.34	4.34	0.51931	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.512834	0.14002	U	0.348028	T	0.81987	0.4939	M	0.86028	2.79	0.54753	D	0.999985	P;P;P	0.46656	0.642;0.882;0.759	P;B;B	0.47786	0.557;0.416;0.413	D	0.85369	0.1112	10	0.87932	D	0	.	14.7366	0.69419	0.0:1.0:0.0:0.0	.	121;32;32	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	H	32	ENSP00000441543:D32H;ENSP00000443053:D32H;ENSP00000344818:D32H;ENSP00000438394:D32H;ENSP00000440205:D32H;ENSP00000442800:D32H;ENSP00000445337:D32H;ENSP00000439492:D32H;ENSP00000438289:D32H;ENSP00000441238:D32H;ENSP00000437452:D32H;ENSP00000441556:D32H	ENSP00000344818:D32H	D	-	1	0	UBC	123964177	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	5.139000	0.64801	2.128000	0.65567	0.650000	0.86243	GAT		0.502	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		13	175	0	0	0	0	13	175				
TMEM132D	121256	broad.mit.edu	37	12	129569056	129569056	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:129569056G>C	ENST00000422113.2	-	6	1961	c.1635C>G	c.(1633-1635)atC>atG	p.I545M	TMEM132D_ENST00000389441.4_Missense_Mutation_p.I83M	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	545					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGCTGGAGACGATGGGCACTC	0.592																																						uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1633-1635)ATC>ATG		transmembrane protein 132D precursor							68.0	51.0	57.0					12																	129569056		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129569056G>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1635C>G	12.37:g.129569056G>C	ENSP00000408581:p.Ile545Met					TMEM132D_uc001uia.2_Missense_Mutation_p.I83M	p.I545M	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	6	1963	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	545			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1635C>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	9.083	0.999747	0.19121	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.22743	1.94;1.94	4.79	-4.63	0.03359	.	0.424940	0.23696	N	0.045465	T	0.36635	0.0974	M	0.84326	2.69	0.28237	N	0.925846	D;D	0.63046	0.992;0.983	P;D	0.63488	0.904;0.915	T	0.16689	-1.0394	9	.	.	.	-23.807	7.4746	0.27368	0.481:0.1999:0.3191:0.0	.	545;83	Q14C87;Q14C87-2	T132D_HUMAN;.	M	83;545	ENSP00000374092:I83M;ENSP00000408581:I545M	.	I	-	3	3	TMEM132D	128135009	0.000000	0.05858	0.102000	0.21198	0.104000	0.19210	-0.465000	0.06680	-0.903000	0.03881	-0.258000	0.10820	ATC		0.592	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		5	11	0	0	0	0	5	11				
GJA3	2700	broad.mit.edu	37	13	20716822	20716822	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:20716822G>C	ENST00000241125.3	-	2	782	c.606C>G	c.(604-606)atC>atG	p.I202M		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	202					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGATGATGAAGATGGTCTTCT	0.612																																						uc001umx.1		NA																	0				pancreas(1)	1						c.(604-606)ATC>ATG		connexin 46							55.0	52.0	53.0					13																	20716822		2203	4300	6503	SO:0001583	missense	2700				cell-cell signaling|visual perception	connexon complex|integral to membrane		g.chr13:20716822G>C	AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"""Ion channels / Gap junction proteins (connexins)"""	4277	protein-coding gene	gene with protein product	"""connexin 46"""	121015	"""gap junction protein, alpha 3, 46kD (connexin 46)"", ""gap junction protein, alpha 3, 46kDa (connexin 46)"""	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.606C>G	13.37:g.20716822G>C	ENSP00000241125:p.Ile202Met						p.I202M	NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)	2	778	-		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	202			Helical; (Potential).		Q0VAB7|Q9H537	Missense_Mutation	SNP	ENST00000241125.3	37	c.606C>G	CCDS9289.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236713	0.58886	.	.	ENSG00000121743	ENST00000241125	D	0.97430	-4.38	5.07	-1.08	0.09936	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	H	0.95470	3.675	0.52501	D	0.99995	D	0.89917	1.0	D	0.79784	0.993	D	0.96470	0.9348	10	0.87932	D	0	.	6.1667	0.20394	0.0657:0.1003:0.3884:0.4457	.	202	Q9Y6H8	CXA3_HUMAN	M	202	ENSP00000241125:I202M	ENSP00000241125:I202M	I	-	3	3	GJA3	19614822	0.979000	0.34478	0.997000	0.53966	0.997000	0.91878	0.074000	0.14662	-0.102000	0.12197	0.555000	0.69702	ATC		0.612	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954		13	36	0	0	0	0	13	36				
SACS	26278	broad.mit.edu	37	13	23912713	23912713	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:23912713G>C	ENST00000382292.3	-	9	5575	c.5302C>G	c.(5302-5304)Cac>Gac	p.H1768D	SACS_ENST00000382298.3_Missense_Mutation_p.H1768D|SACS_ENST00000402364.1_Missense_Mutation_p.H1018D			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1768					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACACATGGTGAAATTCTTCC	0.443																																						uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(5302-5304)CAC>GAC		sacsin							134.0	133.0	133.0					13																	23912713		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912713G>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5302C>G	13.37:g.23912713G>C	ENSP00000371729:p.His1768Asp					SACS_uc001uoo.2_Missense_Mutation_p.H1621D|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.H1768D	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5891	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1768					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.5302C>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462876	0.63513	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87334	-2.1;-2.24;-2.1	5.84	5.84	0.93424	.	0.050797	0.85682	D	0.000000	D	0.85362	0.5679	L	0.57536	1.79	0.45087	D	0.998102	B	0.19817	0.039	B	0.20767	0.031	T	0.80372	-0.1410	10	0.11794	T	0.64	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	1768	Q9NZJ4	SACS_HUMAN	D	1768;1018;1768	ENSP00000371729:H1768D;ENSP00000385844:H1018D;ENSP00000371735:H1768D	ENSP00000371729:H1768D	H	-	1	0	SACS	22810713	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.476000	0.97823	2.760000	0.94817	0.655000	0.94253	CAC		0.443	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		22	140	0	0	0	0	22	140				
PARP4	143	broad.mit.edu	37	13	25026704	25026704	+	Missense_Mutation	SNP	C	C	T	rs373111528		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:25026704C>T	ENST00000381989.3	-	24	2959	c.2854G>A	c.(2854-2856)Gac>Aac	p.D952N		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	952	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTCCAGAAGTCTGTGTTCCCC	0.488																																						uc001upl.2		NA																	0				ovary(3)|skin(1)	4						c.(2854-2856)GAC>AAC		poly (ADP-ribose) polymerase family, member 4		C	ASN/ASP	0,4406		0,0,2203	139.0	136.0	137.0		2854	5.3	1.0	13		137	1,8599	1.2+/-3.3	0,1,4299	no	missense	PARP4	NM_006437.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	952/1725	25026704	1,13005	2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25026704C>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2854G>A	13.37:g.25026704C>T	ENSP00000371419:p.Asp952Asn					PARP4_uc010tdc.1_Missense_Mutation_p.D952N	p.D952N	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	24	2960	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	952			VWFA.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.2854G>A	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695496	0.88830	0.0	1.16E-4	ENSG00000102699	ENST00000381989	T	0.20598	2.06	5.29	5.29	0.74685	von Willebrand factor, type A (3);	0.101935	0.64402	D	0.000003	T	0.42988	0.1227	L	0.58101	1.795	0.53688	D	0.999978	D	0.76494	0.999	D	0.68943	0.961	T	0.21177	-1.0253	10	0.87932	D	0	-27.7817	16.5315	0.84361	0.0:1.0:0.0:0.0	.	952	Q9UKK3	PARP4_HUMAN	N	952	ENSP00000371419:D952N	ENSP00000371419:D952N	D	-	1	0	PARP4	23924704	1.000000	0.71417	0.995000	0.50966	0.815000	0.46073	5.881000	0.69706	2.778000	0.95560	0.638000	0.83543	GAC		0.488	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		20	62	0	0	0	0	20	62				
ATP8A2	51761	broad.mit.edu	37	13	26125501	26125501	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:26125501G>C	ENST00000381655.2	+	11	1059	c.917G>C	c.(916-918)aGa>aCa	p.R306T	ATP8A2_ENST00000255283.8_Missense_Mutation_p.R266T	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	266					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCTCTCAAGAGATCAAATGTT	0.507																																						uc001uqk.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(916-918)AGA>ACA		ATPase, aminophospholipid transporter-like,							118.0	117.0	117.0					13																	26125501		1930	4132	6062	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26125501G>C	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.917G>C	13.37:g.26125501G>C	ENSP00000371070:p.Arg306Thr					ATP8A2_uc010tdi.1_Missense_Mutation_p.R266T|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.R266T	p.R306T	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	11	1059	+		Breast(139;0.0201)|Lung SC(185;0.0225)	266			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.917G>C	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870289	0.72065	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.91464	-2.85;-2.85	5.91	5.91	0.95273	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95287	0.8471	M	0.77820	2.39	0.80722	D	1	D;D;D	0.60575	0.98;0.975;0.988	P;P;D	0.64877	0.899;0.848;0.93	D	0.94924	0.8076	10	0.66056	D	0.02	.	20.303	0.98618	0.0:0.0:1.0:0.0	.	266;266;266	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	T	306;266;86	ENSP00000371070:R306T;ENSP00000255283:R266T	ENSP00000255283:R266T	R	+	2	0	ATP8A2	25023501	1.000000	0.71417	0.997000	0.53966	0.242000	0.25591	7.850000	0.86915	2.806000	0.96561	0.549000	0.68633	AGA		0.507	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		9	33	0	0	0	0	9	33				
MTIF3	219402	broad.mit.edu	37	13	28009980	28009980	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:28009980G>C	ENST00000381116.1	-	7	903	c.669C>G	c.(667-669)ttC>ttG	p.F223L	MTIF3_ENST00000405591.2_Missense_Mutation_p.F223L|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000431572.2_Missense_Mutation_p.F223L|MTIF3_ENST00000381120.3_Missense_Mutation_p.F223L			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	223					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		GCCTAGATGAGAATGTAGCTA	0.383																																						uc001urh.2		NA																	0				ovary(1)|skin(1)	2						c.(667-669)TTC>TTG		mitochondrial translational initiation factor 3							95.0	94.0	94.0					13																	28009980		2203	4300	6503	SO:0001583	missense	219402				regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity	g.chr13:28009980G>C	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633	ENST00000381116.1:c.669C>G	13.37:g.28009980G>C	ENSP00000370508:p.Phe223Leu					MTIF3_uc001uri.2_Missense_Mutation_p.F223L|MTIF3_uc001urj.2_Missense_Mutation_p.F223L|MTIF3_uc001urk.2_Missense_Mutation_p.F223L	p.F223L	NM_152912	NP_690876	Q9H2K0	IF3M_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)	3	1893	-		Lung SC(185;0.0161)	223					Q05BL8|Q5W0V0|Q86X68	Missense_Mutation	SNP	ENST00000381116.1	37	c.669C>G	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898344	0.52227	.	.	ENSG00000122033	ENST00000431572;ENST00000405591;ENST00000381116;ENST00000381120	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.66	5.66	0.87406	Translation initiation factor 3, C-terminal (3);	0.052083	0.85682	D	0.000000	T	0.53045	0.1772	M	0.79805	2.47	0.38067	D	0.936254	D	0.65815	0.995	D	0.66497	0.944	T	0.56697	-0.7936	10	0.36615	T	0.2	-21.1529	11.186	0.48657	0.142:0.0:0.858:0.0	.	223	Q9H2K0	IF3M_HUMAN	L	223	ENSP00000400084:F223L;ENSP00000384659:F223L;ENSP00000370508:F223L;ENSP00000370512:F223L	ENSP00000370508:F223L	F	-	3	2	MTIF3	26907980	0.318000	0.24598	0.971000	0.41717	0.033000	0.12548	0.480000	0.22244	2.665000	0.90641	0.655000	0.94253	TTC		0.383	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		19	61	0	0	0	0	19	61				
MEDAG	84935	broad.mit.edu	37	13	31495235	31495235	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:31495235C>T	ENST00000380482.4	+	3	798	c.473C>T	c.(472-474)tCa>tTa	p.S158L	TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000586464.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	158					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											GTCATCTCCTCAGTGATTGGA	0.483																																						uc001uth.3		NA																	0					0						c.(472-474)TCA>TTA		hypothetical protein LOC84935							126.0	106.0	113.0					13																	31495235		2203	4300	6503	SO:0001583	missense	84935							g.chr13:31495235C>T	AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"""mesenteric estrogen-dependent adipose 4"", ""activated in W/Wv mouse stomach 3 homolog"""		"""chromosome 13 open reading frame 33"""	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.473C>T	13.37:g.31495235C>T	ENSP00000369849:p.Ser158Leu					uc001utg.1_Intron	p.S158L	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)	3	814	+		Lung SC(185;0.0281)	158					Q8IXF1|Q96K26|Q96NC8	Missense_Mutation	SNP	ENST00000380482.4	37	c.473C>T	CCDS9338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.535930|4.535930	0.85812|0.85812	.|.	.|.	ENSG00000102802|ENSG00000102802	ENST00000428944|ENST00000380482	.|T	.|0.65732	.|-0.17	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.146280	.|0.46758	.|D	.|0.000267	.|T	.|0.70727	.|0.3257	L|L	0.32530|0.32530	0.975|0.975	0.44302|0.44302	D|D	0.997175|0.997175	.|D	.|0.76494	.|0.999	.|D	.|0.80764	.|0.994	.|T	.|0.73839	.|-0.3856	.|10	.|0.87932	.|D	.|0	-11.8079|-11.8079	15.9652|15.9652	0.79966|0.79966	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|158	.|Q5VYS4	.|CM033_HUMAN	X|L	95|158	.|ENSP00000369849:S158L	.|ENSP00000369849:S158L	Q|S	+|+	1|2	0|0	C13orf33|C13orf33	30393235|30393235	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	4.560000|4.560000	0.60802|0.60802	2.515000|2.515000	0.84797|0.84797	0.461000|0.461000	0.40582|0.40582	CAG|TCA		0.483	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849		4	22	0	0	0	0	4	22				
NBEA	26960	broad.mit.edu	37	13	35751193	35751193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:35751193C>T	ENST00000400445.3	+	28	5149	c.4615C>T	c.(4615-4617)Cag>Tag	p.Q1539*	NBEA_ENST00000540320.1_Nonsense_Mutation_p.Q1539*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q1536*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q1539*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1539					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGACTTCTTCAGGATGTTGA	0.363																																						uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(4615-4617)CAG>TAG		neurobeachin							143.0	125.0	131.0					13																	35751193		1843	4093	5936	SO:0001587	stop_gained	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35751193C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4615C>T	13.37:g.35751193C>T	ENSP00000383295:p.Gln1539*					NBEA_uc010abi.2_Nonsense_Mutation_p.Q227*	p.Q1539*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	28	4821	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1539					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	37	c.4615C>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	47	13.809762	0.99764	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	1539;1539;1536;1539;198	.	ENSP00000308534:Q1539X	Q	+	1	0	NBEA	34649193	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	7.729000	0.84864	2.941000	0.99782	0.655000	0.94253	CAG		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		3	8	0	0	0	0	3	8				
AKAP11	11215	broad.mit.edu	37	13	42876840	42876840	+	Missense_Mutation	SNP	C	C	G	rs181902169		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:42876840C>G	ENST00000025301.2	+	8	4133	c.3958C>G	c.(3958-3960)Ctt>Gtt	p.L1320V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1320					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TCCGTTTATTCTTTCATTACC	0.398																																						uc001uys.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3958-3960)CTT>GTT		A-kinase anchor protein 11							98.0	96.0	97.0					13																	42876840		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876840C>G	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3958C>G	13.37:g.42876840C>G	ENSP00000025301:p.Leu1320Val						p.L1320V	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4133	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1320					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.3958C>G	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980917	0.53827	.	.	ENSG00000023516	ENST00000025301	T	0.55588	0.51	5.75	4.89	0.63831	.	0.595996	0.16279	N	0.221436	T	0.49133	0.1539	M	0.69823	2.125	0.35216	D	0.775599	P	0.35628	0.513	B	0.28916	0.096	T	0.61397	-0.7071	10	0.46703	T	0.11	.	10.8724	0.46891	0.0:0.798:0.132:0.0699	.	1320	Q9UKA4	AKA11_HUMAN	V	1320	ENSP00000025301:L1320V	ENSP00000025301:L1320V	L	+	1	0	AKAP11	41774840	0.728000	0.28080	0.962000	0.40283	0.883000	0.51084	1.138000	0.31491	1.395000	0.46643	0.655000	0.94253	CTT		0.398	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		5	45	0	0	0	0	5	45				
LCP1	3936	broad.mit.edu	37	13	46733075	46733075	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:46733075G>C	ENST00000398576.2	-	6	502	c.114C>G	c.(112-114)ttC>ttG	p.F38L	LCP1_ENST00000323076.2_Missense_Mutation_p.F38L|LCP1_ENST00000460190.1_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	38	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AAGCAGCCTTGAACAAGTCAT	0.433			T	BCL6	NHL																																	uc001vaz.3		NA		Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		0				lung(4)|ovary(3)	7						c.(112-114)TTC>TTG		L-plastin							165.0	150.0	155.0					13																	46733075		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46733075G>C	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.114C>G	13.37:g.46733075G>C	ENSP00000381581:p.Phe38Leu					LCP1_uc001vba.3_Missense_Mutation_p.F38L	p.F38L	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	3	240	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	38			EF-hand 1.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.114C>G	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726815	0.30593	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500;ENST00000442275	T;T;T;T	0.06294	3.32;3.32;3.32;3.32	5.76	4.92	0.64577	EF-hand-like domain (1);	0.042790	0.85682	D	0.000000	T	0.02807	0.0084	N	0.10809	0.05	0.80722	D	1	B	0.10296	0.003	B	0.15052	0.012	T	0.30880	-0.9963	10	0.02654	T	1	-20.7957	6.8417	0.23967	0.1556:0.1561:0.6884:0.0	.	38	P13796	PLSL_HUMAN	L	38	ENSP00000315757:F38L;ENSP00000381581:F38L;ENSP00000408052:F38L;ENSP00000402157:F38L	ENSP00000315757:F38L	F	-	3	2	LCP1	45631076	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.259000	0.51515	1.584000	0.49913	0.655000	0.94253	TTC		0.433	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		31	90	0	0	0	0	31	90				
SUCLA2	8803	broad.mit.edu	37	13	48563043	48563043	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:48563043G>A	ENST00000378654.3	-	3	401	c.345C>T	c.(343-345)ctC>ctT	p.L115L	SUCLA2_ENST00000543413.1_Silent_p.L57L|SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000534875.1_Silent_p.L57L|SUCLA2_ENST00000497202.1_5'UTR	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	115	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CTCCTCCTTTGAGGCCACTTT	0.328																																						uc001vbs.2		NA																	0				central_nervous_system(1)	1						c.(343-345)CTC>CTT		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						110.0	109.0	109.0					13																	48563043		2203	4300	6503	SO:0001819	synonymous_variant	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48563043G>A	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.345C>T	13.37:g.48563043G>A						SUCLA2_uc010tgb.1_Silent_p.L55L|SUCLA2_uc010tgc.1_5'UTR|SUCLA2_uc010tgd.1_Silent_p.L55L|SUCLA2_uc001vbt.1_RNA|SUCLA2_uc001vbu.1_Silent_p.L115L	p.L115L	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	3	402	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	115			ATP-grasp.		B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Silent	SNP	ENST00000378654.3	37	c.345C>T	CCDS9406.1																																																																																				0.328	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1			37	118	0	0	0	0	37	118				
PCDH17	27253	broad.mit.edu	37	13	58207078	58207078	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:58207078C>G	ENST00000377918.3	+	1	424	c.398C>G	c.(397-399)tCc>tGc	p.S133C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	133	Cadherin 2. {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(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCTCCTTCTCCTCGGACCAG	0.612																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(397-399)TCC>TGC		protocadherin 17 precursor							110.0	87.0	95.0					13																	58207078		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207078C>G	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.398C>G	13.37:g.58207078C>G	ENSP00000367151:p.Ser133Cys					PCDH17_uc010aec.1_Missense_Mutation_p.S133C	p.S133C	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1290	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	133			Extracellular (Potential).|Cadherin 2.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.398C>G	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011556	0.75046	.	.	ENSG00000118946	ENST00000377918	T	0.60424	0.19	5.3	5.3	0.74995	Cadherin (2);Cadherin-like (1);	0.048097	0.85682	D	0.000000	T	0.63861	0.2547	L	0.46157	1.445	0.44462	D	0.997399	P;P	0.43973	0.759;0.823	P;P	0.50754	0.649;0.447	T	0.58896	-0.7555	9	.	.	.	.	19.1532	0.93499	0.0:1.0:0.0:0.0	.	133;133	O14917-2;O14917	.;PCD17_HUMAN	C	133	ENSP00000367151:S133C	.	S	+	2	0	PCDH17	57105079	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.617000	0.83032	2.775000	0.95449	0.650000	0.86243	TCC		0.612	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		6	11	0	0	0	0	6	11				
MYCBP2	23077	broad.mit.edu	37	13	77633702	77633702	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:77633702C>T	ENST00000544440.2	-	77	12999	c.12982G>A	c.(12982-12984)Gag>Aag	p.E4328K	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E4328K|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E4366K					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)		GCAGATAACTCTGTTCCACTC	0.463																																						uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(12982-12984)GAG>AAG		MYC binding protein 2							166.0	142.0	150.0					13																	77633702		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77633702C>T	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.12982G>A	13.37:g.77633702C>T	ENSP00000444596:p.Glu4328Lys					MYCBP2_uc010aev.2_Missense_Mutation_p.E3732K|MYCBP2_uc001vke.2_Missense_Mutation_p.E945K	p.E4328K	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	78	13073	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4328						Missense_Mutation	SNP	ENST00000544440.2	37	c.12982G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.546346|4.546346	0.86022|0.86022	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.27720|.	1.65;1.65;1.65|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52709|0.52709	0.1751|0.1751	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	P|.	0.52842|.	0.956|.	P|.	0.62184|.	0.899|.	T|T	0.47522|0.47522	-0.9111|-0.9111	10|5	0.41790|.	T|.	0.15|.	.|.	17.252|17.252	0.87045|0.87045	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4328|.	O75592|.	MYCB2_HUMAN|.	K|K	4328;4366;4328|748	ENSP00000349892:E4328K;ENSP00000384288:E4366K;ENSP00000444596:E4328K|.	ENSP00000349892:E4328K|.	E|R	-|-	1|2	0|0	MYCBP2|MYCBP2	76531703|76531703	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.998000|0.998000	0.95712|0.95712	7.290000|7.290000	0.78711|0.78711	2.589000|2.589000	0.87451|0.87451	0.591000|0.591000	0.81541|0.81541	GAG|AGA		0.463	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		8	67	0	0	0	0	8	67				
MYCBP2	23077	broad.mit.edu	37	13	77699528	77699528	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:77699528C>G	ENST00000544440.2	-	54	7863	c.7846G>C	c.(7846-7848)Gag>Cag	p.E2616Q	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E2616Q|MYCBP2_ENST00000360084.5_Missense_Mutation_p.E79Q|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E2654Q					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)		GACCATGCCTCTCCTTCATCA	0.433																																						uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(7846-7848)GAG>CAG		MYC binding protein 2							322.0	255.0	277.0					13																	77699528		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77699528C>G	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.7846G>C	13.37:g.77699528C>G	ENSP00000444596:p.Glu2616Gln					MYCBP2_uc010aev.2_Missense_Mutation_p.E2020Q|MYCBP2_uc001vkg.1_Missense_Mutation_p.E79Q	p.E2616Q	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	55	7937	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2616						Missense_Mutation	SNP	ENST00000544440.2	37	c.7846G>C		.	.	.	.	.	.	.	.	.	.	C	20.8	4.051507	0.75960	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.60672	1.01;1.0;1.01;0.17	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.72930	0.3522	L	0.52573	1.65	0.80722	D	1	D;D	0.61080	0.989;0.981	D;D	0.72982	0.979;0.954	T	0.73902	-0.3836	10	0.72032	D	0.01	.	19.6985	0.96043	0.0:1.0:0.0:0.0	.	2616;2616	O75592-2;O75592	.;MYCB2_HUMAN	Q	2616;2654;2616;79	ENSP00000349892:E2616Q;ENSP00000384288:E2654Q;ENSP00000444596:E2616Q;ENSP00000353197:E79Q	ENSP00000349892:E2616Q	E	-	1	0	MYCBP2	76597529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.802000	0.85969	2.658000	0.90341	0.585000	0.79938	GAG		0.433	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		43	162	0	0	0	0	43	162				
COL4A2	1284	broad.mit.edu	37	13	111077163	111077163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:111077163G>A	ENST00000360467.5	+	5	569	c.263G>A	c.(262-264)gGa>gAa	p.G88E		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	88					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGACGTAAAGGAGACAAGGGT	0.627																																						uc001vqx.2		NA																	0				skin(3)|central_nervous_system(2)|ovary(1)	6						c.(262-264)GGA>GAA		alpha 2 type IV collagen preproprotein							86.0	97.0	93.0					13																	111077163		1932	4130	6062	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111077163G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.263G>A	13.37:g.111077163G>A	ENSP00000353654:p.Gly88Glu						p.G88E	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		5	552	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	88					Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.263G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009006	0.54361	.	.	ENSG00000134871	ENST00000400163;ENST00000360467;ENST00000257309	D;D	0.99488	-6.0;-6.0	5.08	5.08	0.68730	.	0.000000	0.51477	D	0.000082	D	0.99746	0.9899	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97047	0.9761	10	0.87932	D	0	.	18.5643	0.91112	0.0:0.0:1.0:0.0	.	88	P08572	CO4A2_HUMAN	E	88	ENSP00000383027:G88E;ENSP00000353654:G88E	ENSP00000257309:G88E	G	+	2	0	COL4A2	109875164	1.000000	0.71417	0.990000	0.47175	0.685000	0.39939	8.259000	0.89855	2.395000	0.81488	0.650000	0.86243	GGA		0.627	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		13	41	0	0	0	0	13	41				
ADPRHL1	113622	broad.mit.edu	37	13	114079395	114079395	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:114079395T>C	ENST00000375418.3	-	5	832	c.746A>G	c.(745-747)gAc>gGc	p.D249G	ADPRHL1_ENST00000356501.4_Missense_Mutation_p.D167G	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	249					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			ATCATAATTGTCGGGGAAGAT	0.438																																						uc001vtq.1		NA																	0					0						c.(745-747)GAC>GGC		ADP-ribosylhydrolase like 1 isoform 1							244.0	225.0	231.0					13																	114079395		2203	4299	6502	SO:0001583	missense	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114079395T>C	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.746A>G	13.37:g.114079395T>C	ENSP00000364567:p.Asp249Gly					ADPRHL1_uc001vtp.1_Missense_Mutation_p.D167G	p.D249G	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		5	833	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	249					Q5JUG2|Q96GD1	Missense_Mutation	SNP	ENST00000375418.3	37	c.746A>G	CCDS9535.1	.	.	.	.	.	.	.	.	.	.	t	9.292	1.050978	0.19827	.	.	ENSG00000153531	ENST00000356501;ENST00000375418;ENST00000413169	T	0.45276	0.9	5.22	5.22	0.72569	.	0.052416	0.64402	D	0.000001	T	0.45115	0.1326	M	0.77820	2.39	0.48762	D	0.999703	B	0.11235	0.004	B	0.12156	0.007	T	0.40850	-0.9541	10	0.38643	T	0.18	-43.247	12.2862	0.54793	0.0:0.0:0.1411:0.8589	.	249	Q8NDY3	ARHL1_HUMAN	G	167;249;167	ENSP00000364567:D249G	ENSP00000348894:D167G	D	-	2	0	ADPRHL1	113127396	1.000000	0.71417	0.147000	0.22382	0.013000	0.08279	3.479000	0.53165	1.983000	0.57843	0.449000	0.29647	GAC		0.438	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430		15	69	0	0	0	0	15	69				
RASA3	22821	broad.mit.edu	37	13	114781703	114781703	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr13:114781703C>T	ENST00000334062.7	-	13	1372	c.1251G>A	c.(1249-1251)ttG>ttA	p.L417L	RASA3_ENST00000389544.4_Silent_p.L385L	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	417	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.L417L(1)|p.L417F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTCCGTCTTTCAACTTCACAG	0.517																																						uc001vui.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|breast(1)	lung(3)|skin(1)	4						c.(1249-1251)TTG>TTA		RAS p21 protein activator 3							162.0	138.0	146.0					13																	114781703		2203	4300	6503	SO:0001819	synonymous_variant	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114781703C>T		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1251G>A	13.37:g.114781703C>T						RASA3_uc010tkk.1_Silent_p.L385L|RASA3_uc001vuj.2_Silent_p.L34L	p.L417L	NM_007368	NP_031394	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		13	1382	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	417			Ras-GAP.		A6NL15|F8W6X8|Q8IUY2	Silent	SNP	ENST00000334062.7	37	c.1251G>A	CCDS32016.1																																																																																				0.517	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		10	44	0	0	0	0	10	44				
HOMEZ	57594	broad.mit.edu	37	14	23745036	23745036	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:23745036C>T	ENST00000357460.5	-	2	1565	c.1401G>A	c.(1399-1401)gaG>gaA	p.E467E	HOMEZ_ENST00000431326.2_Silent_p.E469E|HOMEZ_ENST00000561013.1_Silent_p.E469E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCCAGTACCTCTCCAAGGGTT	0.552																																						uc001wja.2		NA																	0					0						c.(1399-1401)GAG>GAA		homeodomain leucine zipper protein							90.0	89.0	89.0					14																	23745036		2005	4175	6180	SO:0001819	synonymous_variant	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23745036C>T	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1401G>A	14.37:g.23745036C>T						HOMEZ_uc001wjb.2_Silent_p.E469E	p.E467E	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	1549	-	all_cancers(95;5.54e-06)		467					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	c.1401G>A	CCDS45085.1																																																																																				0.552	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		6	31	0	0	0	0	6	31				
L2HGDH	79944	broad.mit.edu	37	14	50734600	50734600	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:50734600C>T	ENST00000267436.4	-	8	1332	c.935G>A	c.(934-936)gGa>gAa	p.G312E	L2HGDH_ENST00000421284.3_Missense_Mutation_p.G312E|L2HGDH_ENST00000261699.4_Missense_Mutation_p.G312E			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	312					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					GAAGTGAACTCCTAGGAAAGG	0.423																																						uc001wxu.2		NA																	0				ovary(2)	2						c.(934-936)GGA>GAA		L-2-hydroxyglutarate dehydrogenase precursor							106.0	97.0	100.0					14																	50734600		2203	4300	6503	SO:0001583	missense	79944				2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity	g.chr14:50734600C>T		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.935G>A	14.37:g.50734600C>T	ENSP00000267436:p.Gly312Glu					L2HGDH_uc010tqn.1_Missense_Mutation_p.G312E|L2HGDH_uc010tqo.1_Missense_Mutation_p.G312E	p.G312E	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN			8	1014	-	all_epithelial(31;0.000599)|Breast(41;0.0102)		312					Q9BRR1	Missense_Mutation	SNP	ENST00000267436.4	37	c.935G>A	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179953	0.94846	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284	D;D;D	0.91124	-2.79;-2.79;-2.79	5.55	5.55	0.83447	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	H	0.98866	4.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98763	1.0725	10	0.87932	D	0	-25.422	19.8888	0.96921	0.0:1.0:0.0:0.0	.	312;312	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	E	312	ENSP00000261699:G312E;ENSP00000267436:G312E;ENSP00000405559:G312E	ENSP00000261699:G312E	G	-	2	0	L2HGDH	49804350	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.722000	0.84778	2.784000	0.95788	0.643000	0.83706	GGA		0.423	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884		27	65	0	0	0	0	27	65				
DAAM1	23002	broad.mit.edu	37	14	59821922	59821922	+	Missense_Mutation	SNP	C	C	T	rs540791565		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:59821922C>T	ENST00000395125.1	+	20	2449	c.2426C>T	c.(2425-2427)gCc>gTc	p.A809V	DAAM1_ENST00000351081.1_Missense_Mutation_p.A809V|DAAM1_ENST00000360909.3_Missense_Mutation_p.A799V|DAAM1_ENST00000553966.1_Intron	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	809	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGGAGTGGTGCCCTCAAGCAG	0.378																																						uc001xdz.1		NA																	0				ovary(1)	1						c.(2425-2427)GCC>GTC		dishevelled-associated activator of							200.0	185.0	190.0					14																	59821922		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59821922C>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2426C>T	14.37:g.59821922C>T	ENSP00000378557:p.Ala809Val					DAAM1_uc001xea.1_Missense_Mutation_p.A799V|DAAM1_uc001xec.1_RNA	p.A809V	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	21	2551	+			809			FH2.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.2426C>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735511	0.69189	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.17528	2.27;2.27;2.27	5.8	5.8	0.92144	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.430804	0.28544	N	0.014969	T	0.26629	0.0651	L	0.48642	1.525	0.37436	D	0.914249	P;P	0.45902	0.868;0.652	B;P	0.50270	0.394;0.636	T	0.01520	-1.1334	10	0.59425	D	0.04	.	14.8073	0.69968	0.0:0.7497:0.2503:0.0	.	799;809	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	V	799;809;809	ENSP00000354162:A799V;ENSP00000247170:A809V;ENSP00000378557:A809V	ENSP00000247170:A809V	A	+	2	0	DAAM1	58891675	1.000000	0.71417	0.996000	0.52242	0.683000	0.39861	4.271000	0.58902	2.902000	0.99343	0.650000	0.86243	GCC		0.378	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		40	118	0	0	0	0	40	118				
SYNE2	23224	broad.mit.edu	37	14	64691209	64691209	+	Missense_Mutation	SNP	G	G	C	rs199923651		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:64691209G>C	ENST00000344113.4	+	113	20556	c.20344G>C	c.(20344-20346)Gag>Cag	p.E6782Q	SYNE2_ENST00000441438.2_Missense_Mutation_p.E327Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.E453Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.E565Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6698Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3439Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6805Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E3167Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.E3167Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.E660Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6782					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGCTTCGACGAGGTAGACTC	0.517																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(20344-20346)GAG>CAG		spectrin repeat containing, nuclear envelope 2							89.0	88.0	88.0					14																	64691209		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64691209G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20344G>C	14.37:g.64691209G>C	ENSP00000341781:p.Glu6782Gln					SYNE2_uc001xgl.2_Missense_Mutation_p.E6805Q|SYNE2_uc010apy.2_Missense_Mutation_p.E3167Q|SYNE2_uc001xgn.2_Missense_Mutation_p.E1744Q|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.E752Q|SYNE2_uc001xgq.2_Missense_Mutation_p.E1161Q|SYNE2_uc001xgr.2_Missense_Mutation_p.E565Q|SYNE2_uc010tsi.1_Missense_Mutation_p.E439Q|SYNE2_uc001xgs.2_Missense_Mutation_p.E453Q|SYNE2_uc001xgt.2_Missense_Mutation_p.E327Q	p.E6782Q	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	113	20574	+			6782			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.20344G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	8.039	0.763374	0.15914	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.60171	0.6;3.9;0.61;0.21;3.95;3.9;3.61;3.13;2.81;2.6	4.64	0.23	0.15372	.	0.699277	0.12778	N	0.439865	T	0.59487	0.2197	M	0.78637	2.42	0.09310	N	1	P;B;P;P;B;B;B;B	0.46064	0.666;0.243;0.872;0.632;0.038;0.325;0.009;0.376	B;B;P;B;B;B;B;B	0.48114	0.174;0.387;0.567;0.442;0.033;0.098;0.016;0.124	T	0.52902	-0.8513	10	0.62326	D	0.03	.	3.8232	0.08843	0.3542:0.1798:0.4661:0.0	.	439;3167;327;453;1184;6698;6782;6805	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	Q	6805;3167;6782;6698;6704;3439;3167;660;565;453;327	ENSP00000350719:E6805Q;ENSP00000349969:E3167Q;ENSP00000341781:E6782Q;ENSP00000452570:E6698Q;ENSP00000450831:E3439Q;ENSP00000378249:E3167Q;ENSP00000451009:E660Q;ENSP00000450605:E565Q;ENSP00000391937:E453Q;ENSP00000396794:E327Q	ENSP00000261678:E6704Q	E	+	1	0	SYNE2	63760962	0.019000	0.18553	0.001000	0.08648	0.003000	0.03518	0.797000	0.26999	0.034000	0.15491	-0.263000	0.10527	GAG		0.517	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		9	83	0	0	0	0	9	83				
SLC8A3	6547	broad.mit.edu	37	14	70518823	70518823	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:70518823C>G	ENST00000381269.2	-	5	2668	c.1915G>C	c.(1915-1917)Gac>Cac	p.D639H	SLC8A3_ENST00000528359.1_Splice_Site|SLC8A3_ENST00000216568.7_Missense_Mutation_p.D10H|SLC8A3_ENST00000357887.3_Splice_Site|SLC8A3_ENST00000533541.1_5'UTR|SLC8A3_ENST00000534137.1_Splice_Site|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D633H|SLC8A3_ENST00000394330.2_5'UTR	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	639					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGCTTCCTGTCTGTCACATCT	0.458																																						uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(1915-1917)GAC>CAC		solute carrier family 8 (sodium/calcium							176.0	154.0	162.0					14																	70518823		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70518823C>G	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1915G>C	14.37:g.70518823C>G	ENSP00000370669:p.Asp639His					SLC8A3_uc001xlu.2_5'UTR|SLC8A3_uc001xlv.2_Missense_Mutation_p.D10H|SLC8A3_uc001xlw.2_Splice_Site_p.D636_splice|SLC8A3_uc001xlx.2_Splice_Site_p.D637_splice|SLC8A3_uc001xlz.2_Missense_Mutation_p.D633H|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_5'UTR	p.D639H	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	5	2669	-			639			Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1915G>C	CCDS35498.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.072535|4.072535	0.76415|0.76415	.|.	.|.	ENSG00000100678|ENSG00000100678	ENST00000357887;ENST00000534137;ENST00000528359|ENST00000356921;ENST00000381269;ENST00000216568	.|T;T;T	.|0.71698	.|1.47;1.22;-0.59	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.191250	.|0.53938	.|D	.|0.000043	.|T	.|0.76814	.|0.4040	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	.|B;P;P	.|0.44659	.|0.288;0.84;0.724	.|B;B;P	.|0.45037	.|0.299;0.208;0.467	.|T	.|0.79024	.|-0.1972	.|10	.|0.54805	.|T	.|0.06	.|.	19.7446|19.7446	0.96247|0.96247	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|633;639;10	.|P57103-2;P57103;Q5K3P6	.|.;NAC3_HUMAN;.	.|H	-1|633;639;10	.|ENSP00000349392:D633H;ENSP00000370669:D639H;ENSP00000216568:D10H	.|ENSP00000216568:D10H	.|D	-|-	.|1	.|0	SLC8A3|SLC8A3	69588576|69588576	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	7.716000|7.716000	0.84723|0.84723	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	.|GAC		0.458	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			24	59	0	0	0	0	24	59				
YLPM1	56252	broad.mit.edu	37	14	75279341	75279341	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:75279341G>C	ENST00000552421.1	+	10	3364	c.3240G>C	c.(3238-3240)agG>agC	p.R1080S	YLPM1_ENST00000238571.3_Missense_Mutation_p.R1591S|YLPM1_ENST00000325680.7_Missense_Mutation_p.R1786S			P49750	YLPM1_HUMAN	YLP motif containing 1	1591	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAGAACGAAGGACTTATCCTG	0.443																																						uc001xqj.3		NA																	0				ovary(2)|pancreas(1)	3						c.(5356-5358)AGG>AGC		YLP motif containing 1							40.0	43.0	42.0					14																	75279341		1968	4156	6124	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75279341G>C	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3240G>C	14.37:g.75279341G>C	ENSP00000447921:p.Arg1080Ser					YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.R269S	p.R1786S	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	11	5482	+			1591					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.5358G>C		.	.	.	.	.	.	.	.	.	.	G	17.40	3.379184	0.61735	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	.	.	.	5.75	1.44	0.22558	.	0.163209	0.43747	D	0.000524	T	0.55940	0.1952	L	0.32530	0.975	0.50813	D	0.999897	P;D	0.63046	0.955;0.992	P;D	0.71656	0.777;0.974	T	0.53570	-0.8420	9	0.56958	D	0.05	-3.3279	8.8145	0.34987	0.6919:0.0:0.3081:0.0	.	1591;1786	P49750-3;P49750-4	.;.	S	1080;1786;1591;1499;195	.	ENSP00000238571:R1591S	R	+	3	2	YLPM1	74349094	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	2.617000	0.46385	0.366000	0.24427	-0.355000	0.07637	AGG		0.443	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		5	8	0	0	0	0	5	8				
LRRC74A	145497	broad.mit.edu	37	14	77319682	77319682	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:77319682G>C	ENST00000393774.3	+	9	1061	c.937G>C	c.(937-939)Gac>Cac	p.D313H		NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CGGTGGCAATGACATCGGCAA	0.532																																					Ovarian(165;1056 1958 32571 36789 48728)	uc001xsx.2		NA																	0					0						c.(937-939)GAC>CAC		hypothetical protein LOC145497							106.0	87.0	94.0					14																	77319682		2203	4300	6503	SO:0001583	missense	145497							g.chr14:77319682G>C																												ENST00000393774.3:c.937G>C	14.37:g.77319682G>C	ENSP00000377369:p.Asp313His					C14orf166B_uc010asn.1_Missense_Mutation_p.D73H|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010tvg.1_RNA|C14orf166B_uc010tvh.1_RNA	p.D313H	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	9	1051	+			313			LRR 7.			Missense_Mutation	SNP	ENST00000393774.3	37	c.937G>C	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	G	4.926	0.171975	0.09391	.	.	ENSG00000100565	ENST00000393774	T	0.63913	-0.07	5.08	-0.489	0.12052	.	0.607264	0.16002	N	0.234250	T	0.44074	0.1276	L	0.33093	0.98	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13202	-1.0518	10	0.36615	T	0.2	.	6.2331	0.20747	0.4165:0.2971:0.2864:0.0	.	313	Q0VAA2	CN16B_HUMAN	H	313	ENSP00000377369:D313H	ENSP00000377369:D313H	D	+	1	0	C14orf166B	76389435	0.100000	0.21855	0.006000	0.13384	0.176000	0.22953	0.369000	0.20416	-0.075000	0.12798	0.462000	0.41574	GAC		0.532	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			12	36	0	0	0	0	12	36				
LRRC74A	145497	broad.mit.edu	37	14	77319694	77319694	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:77319694G>A	ENST00000393774.3	+	9	1073	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CATCGGCAATGAAGGGGCCTC	0.532																																					Ovarian(165;1056 1958 32571 36789 48728)	uc001xsx.2		NA																	0					0						c.(949-951)GAA>AAA		hypothetical protein LOC145497							88.0	72.0	78.0					14																	77319694		2203	4300	6503	SO:0001583	missense	145497							g.chr14:77319694G>A																												ENST00000393774.3:c.949G>A	14.37:g.77319694G>A	ENSP00000377369:p.Glu317Lys					C14orf166B_uc010asn.1_Missense_Mutation_p.E77K|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010tvg.1_RNA|C14orf166B_uc010tvh.1_RNA	p.E317K	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	9	1063	+			317			LRR 7.			Missense_Mutation	SNP	ENST00000393774.3	37	c.949G>A	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625340	0.46840	.	.	ENSG00000100565	ENST00000393774	T	0.67523	-0.27	5.08	5.08	0.68730	.	0.281543	0.31709	N	0.007196	T	0.63721	0.2535	L	0.60845	1.875	0.80722	D	1	B	0.18013	0.025	B	0.16289	0.015	T	0.59762	-0.7393	10	0.21540	T	0.41	.	18.054	0.89358	0.0:0.0:1.0:0.0	.	317	Q0VAA2	CN16B_HUMAN	K	317	ENSP00000377369:E317K	ENSP00000377369:E317K	E	+	1	0	C14orf166B	76389447	1.000000	0.71417	0.058000	0.19502	0.472000	0.32918	7.049000	0.76613	2.355000	0.79922	0.462000	0.41574	GAA		0.532	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			7	26	0	0	0	0	7	26				
PTPN21	11099	broad.mit.edu	37	14	88935898	88935898	+	Silent	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:88935898G>T	ENST00000556564.1	-	17	3464	c.3180C>A	c.(3178-3180)ctC>ctA	p.L1060L	PTPN21_ENST00000328736.3_Silent_p.L1060L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1060	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGTGTATTGGAGGTGCCAGA	0.537																																						uc001xwv.3		NA																	0				ovary(3)|skin(1)	4						c.(3178-3180)CTC>CTA		protein tyrosine phosphatase, non-receptor type							97.0	93.0	95.0					14																	88935898		2203	4300	6503	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88935898G>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.3180C>A	14.37:g.88935898G>T						PTPN21_uc010twc.1_Silent_p.L856L	p.L1060L	NM_007039	NP_008970	Q16825	PTN21_HUMAN			17	3511	-			1060			Tyrosine-protein phosphatase.			Silent	SNP	ENST00000556564.1	37	c.3180C>A	CCDS9884.1																																																																																				0.537	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			5	53	1	0	2.77e-08	2.98e-08	5	53				
AL133373.1	0	broad.mit.edu	37	14	92040776	92040776	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:92040776C>T	ENST00000596306.1	-	1	607	c.181G>A	c.(181-183)Gag>Aag	p.E61K																								AGCCGCCGCTCGGGTGTACTG	0.657																																						uc010aua.1		NA																	0					0						c.(181-183)GAG>AAG		hypothetical protein LOC650662							18.0	21.0	20.0					14																	92040776		1897	4129	6026	SO:0001583	missense	650662							g.chr14:92040776C>T																												ENST00000596306.1:c.181G>A	14.37:g.92040776C>T	ENSP00000472226:p.Glu61Lys						p.E61K	NM_001080113	NP_001073582	Q8WYT3	CN184_HUMAN			1	608	-			61						Missense_Mutation	SNP	ENST00000596306.1	37	c.181G>A		.	.	.	.	.	.	.	.	.	.	C	5.456	0.269156	0.10349	.	.	ENSG00000247097	ENST00000498919	.	.	.	0.825	0.825	0.18824	.	.	.	.	.	T	0.45377	0.1339	.	.	.	.	.	.	.	.	.	.	.	.	T	0.55289	-0.8164	4	0.87932	D	0	.	5.0278	0.14395	0.0:1.0:0.0:0.0	.	.	.	.	K	61	.	ENSP00000420823:E61K	E	-	1	0	AL133373.1	91110529	0.002000	0.14202	0.001000	0.08648	0.143000	0.21401	1.091000	0.30915	0.753000	0.32945	0.306000	0.20318	GAG		0.657	AL133373.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				5	8	0	0	0	0	5	8				
DDX24	57062	broad.mit.edu	37	14	94528623	94528623	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:94528623C>G	ENST00000330836.5	-	3	1194	c.1063G>C	c.(1063-1065)Gag>Cag	p.E355Q	DDX24_ENST00000544005.1_Missense_Mutation_p.E105Q|DDX24_ENST00000555054.1_Missense_Mutation_p.E312Q	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	355	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCCTCATTCTCATTCTGTTTG	0.483																																						uc001ycj.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1063-1065)GAG>CAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 24							144.0	135.0	138.0					14																	94528623		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94528623C>G	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1063G>C	14.37:g.94528623C>G	ENSP00000328690:p.Glu355Gln					DDX24_uc010twq.1_Missense_Mutation_p.E312Q|DDX24_uc010twr.1_Missense_Mutation_p.E105Q	p.E355Q	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	3	1162	-		all_cancers(154;0.12)	355			Helicase ATP-binding.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.1063G>C	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531430	0.45073	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000555054;ENST00000542247	T;T;T	0.03635	4.01;3.86;4.02	5.4	3.55	0.40652	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.549745	0.19759	N	0.106718	T	0.04679	0.0127	N	0.24115	0.695	0.22066	N	0.999383	P	0.51147	0.942	P	0.49047	0.599	T	0.35301	-0.9794	10	0.49607	T	0.09	-18.3437	9.634	0.39795	0.0:0.8348:0.0:0.1652	.	355	Q9GZR7	DDX24_HUMAN	Q	355;105;300;312;312	ENSP00000328690:E355Q;ENSP00000440623:E105Q;ENSP00000452145:E312Q	ENSP00000328690:E355Q	E	-	1	0	DDX24	93598376	0.001000	0.12720	0.052000	0.19188	0.120000	0.20174	-0.406000	0.07187	0.739000	0.32628	0.655000	0.94253	GAG		0.483	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		23	70	0	0	0	0	23	70				
SETD3	84193	broad.mit.edu	37	14	99929847	99929847	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:99929847C>G	ENST00000331768.5	-	3	331	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	SETD3_ENST00000453938.1_5'UTR|SETD3_ENST00000329331.3_Missense_Mutation_p.E58Q|SETD3_ENST00000436070.2_Missense_Mutation_p.E58Q	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	58					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CGTATTTTCTCAACCAGAGTC	0.413																																						uc001ygc.2		NA																	0					0						c.(172-174)GAG>CAG		SET domain containing 3 isoform a							102.0	81.0	88.0					14																	99929847		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99929847C>G	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.172G>C	14.37:g.99929847C>G	ENSP00000327436:p.Glu58Gln					SETD3_uc001ygd.2_Missense_Mutation_p.E58Q|SETD3_uc001ygf.2_Missense_Mutation_p.E58Q	p.E58Q	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN			3	342	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	58					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.172G>C	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603032	0.87157	.	.	ENSG00000183576	ENST00000331768;ENST00000329331;ENST00000436070	T;T;T	0.23754	2.63;1.89;1.89	5.75	5.75	0.90469	.	0.054630	0.64402	D	0.000001	T	0.37046	0.0989	M	0.66939	2.045	0.80722	D	1	D;P;D	0.69078	0.973;0.904;0.997	B;B;P	0.45829	0.431;0.235;0.494	T	0.17837	-1.0356	10	0.51188	T	0.08	-30.7763	19.9598	0.97242	0.0:1.0:0.0:0.0	.	58;58;58	Q6NXR6;A0PJU3;Q86TU7	.;.;SETD3_HUMAN	Q	58	ENSP00000327436:E58Q;ENSP00000327910:E58Q;ENSP00000408602:E58Q	ENSP00000327910:E58Q	E	-	1	0	SETD3	98999600	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.732000	0.84908	2.716000	0.92895	0.655000	0.94253	GAG		0.413	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		4	22	0	0	0	0	4	22				
EML1	2009	broad.mit.edu	37	14	100405558	100405558	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:100405558G>A	ENST00000262233.6	+	21	2355	c.2216G>A	c.(2215-2217)gGa>gAa	p.G739E	EML1_ENST00000327921.9_Missense_Mutation_p.G727E|EML1_ENST00000334192.4_Missense_Mutation_p.G758E	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	739	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GGCTCGGACGGAACCGACATC	0.587																																						uc001ygs.2		NA																	0				large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5						c.(2215-2217)GGA>GAA		echinoderm microtubule associated protein like 1							115.0	103.0	107.0					14																	100405558		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100405558G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2216G>A	14.37:g.100405558G>A	ENSP00000262233:p.Gly739Glu					EML1_uc010tww.1_Missense_Mutation_p.G727E|EML1_uc001ygr.2_Missense_Mutation_p.G758E	p.G739E	NM_004434	NP_004425	O00423	EMAL1_HUMAN			21	2285	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	739			WD 10.		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.2216G>A	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854627	0.71719	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.17054	2.3;2.3;2.3	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.948;1.0	T	0.59984	-0.7351	10	0.87932	D	0	-13.8952	17.9835	0.89148	0.0:0.0:1.0:0.0	.	727;739;758	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	E	727;739;758;758	ENSP00000327384:G727E;ENSP00000262233:G739E;ENSP00000334314:G758E	ENSP00000262233:G739E	G	+	2	0	EML1	99475311	1.000000	0.71417	0.130000	0.21974	0.183000	0.23260	9.544000	0.98092	2.322000	0.78497	0.561000	0.74099	GGA		0.587	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		4	40	0	0	0	0	4	40				
EML1	2009	broad.mit.edu	37	14	100405590	100405590	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:100405590G>C	ENST00000262233.6	+	21	2387	c.2248G>C	c.(2248-2250)Gag>Cag	p.E750Q	EML1_ENST00000327921.9_Missense_Mutation_p.E738Q|EML1_ENST00000334192.4_Missense_Mutation_p.E769Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	750	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCGGGCCCATGAGAAGAAACT	0.537																																						uc001ygs.2		NA																	0				large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5						c.(2248-2250)GAG>CAG		echinoderm microtubule associated protein like 1							126.0	113.0	117.0					14																	100405590		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100405590G>C	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2248G>C	14.37:g.100405590G>C	ENSP00000262233:p.Glu750Gln					EML1_uc010tww.1_Missense_Mutation_p.E738Q|EML1_uc001ygr.2_Missense_Mutation_p.E769Q	p.E750Q	NM_004434	NP_004425	O00423	EMAL1_HUMAN			21	2317	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	750			WD 10.		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.2248G>C	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403778	0.42613	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.26810	1.76;1.71;1.76	4.56	3.64	0.41730	.	0.402421	0.28360	N	0.015633	T	0.18467	0.0443	N	0.21282	0.65	0.33060	D	0.533891	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.08055	0.002;0.003;0.002	T	0.18461	-1.0336	10	0.66056	D	0.02	-31.7218	13.4245	0.61018	0.082:0.0:0.918:0.0	.	738;750;769	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	Q	738;750;769;769	ENSP00000327384:E738Q;ENSP00000262233:E750Q;ENSP00000334314:E769Q	ENSP00000262233:E750Q	E	+	1	0	EML1	99475343	1.000000	0.71417	0.952000	0.39060	0.618000	0.37518	5.182000	0.65059	2.240000	0.73641	0.561000	0.74099	GAG		0.537	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		4	33	0	0	0	0	4	33				
SLC25A47	283600	broad.mit.edu	37	14	100789775	100789775	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:100789775C>T	ENST00000361529.3	+	1	102	c.24C>T	c.(22-24)atC>atT	p.I8I	SLC25A47_ENST00000557052.1_5'UTR|AL157871.1_ENST00000583404.1_RNA	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	8					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CTGGAGCCATCGGAGGTAACA	0.627																																					GBM(11;1289 1351)	uc001yhc.2		NA																	0					0						c.(22-24)ATC>ATT		chromosome 14 open reading frame 68							81.0	69.0	74.0					14																	100789775		2203	4300	6503	SO:0001819	synonymous_variant	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100789775C>T		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.24C>T	14.37:g.100789775C>T						C14orf68_uc001yhd.2_5'UTR	p.I8I	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN			1	97	+		Melanoma(154;0.152)	8			Solcar 1.|Helical; Name=1; (Potential).		B2RP39|Q68CL2|Q6PZD8|Q86U14	Silent	SNP	ENST00000361529.3	37	c.24C>T	CCDS9959.1																																																																																				0.627	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1			13	17	0	0	0	0	13	17				
DYNC1H1	1778	broad.mit.edu	37	14	102455173	102455173	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:102455173G>C	ENST00000360184.4	+	10	3016	c.2852G>C	c.(2851-2853)gGa>gCa	p.G951A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	951	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAGCCTGGTGGAGAGCCAAAG	0.428																																						uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(2851-2853)GGA>GCA		cytoplasmic dynein 1 heavy chain 1							96.0	78.0	84.0					14																	102455173		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102455173G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2852G>C	14.37:g.102455173G>C	ENSP00000348965:p.Gly951Ala						p.G951A	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			10	3016	+			951			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.2852G>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135542	0.56828	.	.	ENSG00000197102	ENST00000360184	T	0.75589	-0.95	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.69735	0.3144	M	0.61703	1.905	0.80722	D	1	P	0.47302	0.893	B	0.37692	0.256	T	0.68792	-0.5315	10	0.08837	T	0.75	.	20.1326	0.98004	0.0:0.0:1.0:0.0	.	951	Q14204	DYHC1_HUMAN	A	951	ENSP00000348965:G951A	ENSP00000348965:G951A	G	+	2	0	DYNC1H1	101524926	1.000000	0.71417	0.972000	0.41901	0.977000	0.68977	9.412000	0.97347	2.833000	0.97629	0.655000	0.94253	GGA		0.428	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		11	30	0	0	0	0	11	30				
HSP90AA1	3320	broad.mit.edu	37	14	102549502	102549502	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:102549502C>T	ENST00000216281.8	-	9	1829	c.1624G>A	c.(1624-1626)Gtg>Atg	p.V542M	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.V664M|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.V363M	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	542					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GTGACTGACACTAAAGTCTTC	0.418																																						uc001yku.3		NA																	0				ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(1624-1626)GTG>ATG		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						88.0	87.0	88.0					14																	102549502		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102549502C>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1624G>A	14.37:g.102549502C>T	ENSP00000216281:p.Val542Met					HSP90AA1_uc001ykv.3_Missense_Mutation_p.V664M|HSP90AA1_uc001ykw.1_Missense_Mutation_p.V363M|HSP90AA1_uc001ykx.1_Missense_Mutation_p.V531M	p.V542M	NM_005348	NP_005339	P07900	HS90A_HUMAN			9	1814	-			542					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.1624G>A	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	23.9	4.473339	0.84640	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.19394	2.15;2.15;2.15	4.44	4.44	0.53790	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.64402	U	0.000001	T	0.54679	0.1873	M	0.91561	3.22	0.80722	D	1	D;D;D	0.69078	0.982;0.997;0.995	P;D;D	0.66847	0.735;0.94;0.947	T	0.68731	-0.5331	10	0.87932	D	0	-35.3573	17.4478	0.87583	0.0:1.0:0.0:0.0	.	363;664;542	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	M	542;664;363	ENSP00000216281:V542M;ENSP00000335153:V664M;ENSP00000396189:V363M	ENSP00000216281:V542M	V	-	1	0	HSP90AA1	101619255	1.000000	0.71417	0.984000	0.44739	0.962000	0.63368	7.565000	0.82337	2.192000	0.70111	0.655000	0.94253	GTG		0.418	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		22	77	0	0	0	0	22	77				
TNFAIP2	7127	broad.mit.edu	37	14	103596165	103596165	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:103596165G>A	ENST00000560869.1	+	4	1588	c.949G>A	c.(949-951)Gag>Aag	p.E317K	TNFAIP2_ENST00000451723.2_Intron|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.E317K|TNFAIP2_ENST00000538222.1_5'Flank			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	317					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CCGACTGCTGGAGGCCACATT	0.662																																						uc001ymm.1		NA																	0				central_nervous_system(1)	1						c.(949-951)GAG>AAG		tumor necrosis factor, alpha-induced protein 2							34.0	37.0	36.0					14																	103596165		2203	4300	6503	SO:0001583	missense	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103596165G>A		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.949G>A	14.37:g.103596165G>A	ENSP00000452634:p.Glu317Lys					TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_Intron|TNFAIP2_uc010tya.1_5'Flank	p.E317K	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		3	1080	+		Melanoma(154;0.155)	317					Q86VI0	Missense_Mutation	SNP	ENST00000560869.1	37	c.949G>A	CCDS9979.1	.	.	.	.	.	.	.	.	.	.	g	18.34	3.601730	0.66445	.	.	ENSG00000185215	ENST00000333007	T	0.08193	3.12	4.1	4.1	0.47936	.	0.054776	0.64402	D	0.000001	T	0.23611	0.0571	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	T	0.00780	-1.1569	10	0.72032	D	0.01	-28.5056	12.1866	0.54243	0.0:0.0:1.0:0.0	.	317	Q03169	TNAP2_HUMAN	K	317	ENSP00000332326:E317K	ENSP00000332326:E317K	E	+	1	0	TNFAIP2	102665918	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	3.185000	0.50934	1.989000	0.58080	0.306000	0.20318	GAG		0.662	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		7	19	0	0	0	0	7	19				
KLC1	3831	broad.mit.edu	37	14	104129155	104129155	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr14:104129155G>A	ENST00000348520.6	+	5	1007	c.688G>A	c.(688-690)Gag>Aag	p.E230K	KLC1_ENST00000557575.1_Missense_Mutation_p.E230K|KLC1_ENST00000380038.3_Missense_Mutation_p.E230K|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.E402K|KLC1_ENST00000334553.6_Missense_Mutation_p.E230K|KLC1_ENST00000553286.1_Missense_Mutation_p.E230K|KLC1_ENST00000452929.2_Missense_Mutation_p.E230K|KLC1_ENST00000554280.1_Missense_Mutation_p.E230K|KLC1_ENST00000389744.4_Missense_Mutation_p.E230K|KLC1_ENST00000246489.7_Missense_Mutation_p.E230K|KLC1_ENST00000445352.4_Missense_Mutation_p.E230K|KLC1_ENST00000557450.1_Missense_Mutation_p.E230K|KLC1_ENST00000555836.1_Missense_Mutation_p.E230K|KLC1_ENST00000347839.6_Missense_Mutation_p.E230K	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	230					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GGGGCGCTACGAGGTAGCTGT	0.672																																						uc001yno.2		NA																	0					0						c.(688-690)GAG>AAG		kinesin light chain 1 isoform 2							43.0	40.0	41.0					14																	104129155		2203	4300	6503	SO:0001583	missense	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104129155G>A	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.688G>A	14.37:g.104129155G>A	ENSP00000341154:p.Glu230Lys					KLC1_uc010tyd.1_Missense_Mutation_p.E389K|KLC1_uc010tye.1_Missense_Mutation_p.E226K|KLC1_uc001ynm.1_Missense_Mutation_p.E230K|KLC1_uc001ynn.1_Missense_Mutation_p.E226K|KLC1_uc010tyf.1_Missense_Mutation_p.E230K	p.E230K	NM_182923	NP_891553	Q07866	KLC1_HUMAN			5	996	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	230			TPR 1.		A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	37	c.688G>A	CCDS41996.1	.	.	.	.	.	.	.	.	.	.	G	36	5.916094	0.97099	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.16	5.16	0.70880	Tetratricopeptide-like helical (1);Rabaptin, GTPase-Rab5 binding (1);Tetratricopeptide repeat-containing (1);	0.096756	0.64402	D	0.000001	T	0.68815	0.3042	L	0.43757	1.38	0.80722	D	1	P;P;P;P;P	0.51240	0.59;0.943;0.94;0.586;0.786	B;P;P;B;B	0.49226	0.051;0.584;0.603;0.058;0.312	T	0.70761	-0.4784	10	0.51188	T	0.08	-19.6434	19.0651	0.93108	0.0:0.0:1.0:0.0	.	230;230;402;230;230	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	K	230;230;230;230;230;230;230;230;230;230;230;230;230;230;402	ENSP00000341154:E230K;ENSP00000369377:E230K;ENSP00000374394:E230K;ENSP00000450617:E230K;ENSP00000452487:E230K;ENSP00000334618:E230K;ENSP00000452481:E230K;ENSP00000334523:E230K;ENSP00000246489:E230K;ENSP00000450648:E230K;ENSP00000451242:E230K;ENSP00000414982:E230K;ENSP00000412693:E230K;ENSP00000439065:E402K	ENSP00000246489:E230K	E	+	1	0	KLC1;RP11-73M18.2	103198908	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.725000	0.98778	2.579000	0.87056	0.549000	0.68633	GAG		0.672	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		9	19	0	0	0	0	9	19				
OIP5	11339	broad.mit.edu	37	15	41602045	41602045	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:41602045C>G	ENST00000220514.3	-	5	656	c.597G>C	c.(595-597)ctG>ctC	p.L199L		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	199					cell communication (GO:0007154)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	Cajal body (GO:0015030)|chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TCTTCTCTTTCAGCTAGGAAG	0.393																																						uc001znp.2		NA																	0					0						c.(595-597)CTG>CTC		Opa interacting protein 5							77.0	68.0	71.0					15																	41602045		2203	4300	6503	SO:0001819	synonymous_variant	11339				cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding	g.chr15:41602045C>G	AF025441	CCDS10074.1	15q14	2011-02-23			ENSG00000104147	ENSG00000104147			20300	protein-coding gene	gene with protein product	"""MIS18 kinetochore protein homolog B (S. pombe)"", ""cancer/testis antigen 86"""	606020				9466265, 17199038	Standard	NM_007280		Approved	MIS18B, hMIS18beta, CT86	uc001znp.3	O43482	OTTHUMG00000130251	ENST00000220514.3:c.597G>C	15.37:g.41602045C>G							p.L199L	NM_007280	NP_009211	O43482	MS18B_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)	5	657	-		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)	199					Q96BX7	Silent	SNP	ENST00000220514.3	37	c.597G>C	CCDS10074.1																																																																																				0.393	OIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252576.2	NM_007280		20	54	0	0	0	0	20	54				
CKMT1B	1159	broad.mit.edu	37	15	43891383	43891383	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:43891383G>C	ENST00000441322.1	+	9	1526	c.1166G>C	c.(1165-1167)gGa>gCa	p.G389A	CKMT1B_ENST00000300283.6_Missense_Mutation_p.G389A			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	389	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GTCATCGATGGAGTAAACTAT	0.488																																						uc001zsc.2		NA																	0					0						c.(1165-1167)GGA>GCA		creatine kinase, mitochondrial 1B precursor	Creatine(DB00148)						207.0	183.0	191.0					15																	43891383		2200	4297	6497	SO:0001583	missense	1159				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43891383G>C	AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.1166G>C	15.37:g.43891383G>C	ENSP00000413255:p.Gly389Ala					CKMT1B_uc010uds.1_Missense_Mutation_p.G420A|CKMT1B_uc001zsd.3_Missense_Mutation_p.G389A|CKMT1B_uc010bdj.2_RNA	p.G389A	NM_020990	NP_066270	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	10	1558	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	389			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000441322.1	37	c.1166G>C	CCDS10097.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121294	0.56613	.	.	ENSG00000237289	ENST00000300283;ENST00000441322	T;T	0.12569	2.67;2.67	4.03	4.03	0.46877	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.50820	0.1638	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.981;0.996	T	0.69375	-0.5162	10	0.87932	D	0	0.0279	15.6816	0.77373	0.0:0.0:1.0:0.0	.	420;389	P12532-2;P12532	.;KCRU_HUMAN	A	389	ENSP00000300283:G389A;ENSP00000413255:G389A	ENSP00000300283:G389A	G	+	2	0	CKMT1B	41678675	1.000000	0.71417	1.000000	0.80357	0.482000	0.33219	9.655000	0.98512	2.247000	0.74100	0.313000	0.20887	GGA		0.488	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990		55	119	0	0	0	0	55	119				
SECISBP2L	9728	broad.mit.edu	37	15	49327631	49327631	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:49327631A>G	ENST00000559471.1	-	3	691	c.428T>C	c.(427-429)aTc>aCc	p.I143T	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.I143T	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	143							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTCTGTGGTGATAGCATTTAC	0.483																																						uc001zxe.1		NA																	0				breast(1)|skin(1)	2						c.(427-429)ATC>ACC		SECIS binding protein 2-like							162.0	148.0	153.0					15																	49327631		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49327631A>G	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.428T>C	15.37:g.49327631A>G	ENSP00000453854:p.Ile143Thr					SECISBP2L_uc001zxd.1_Missense_Mutation_p.I143T|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Missense_Mutation_p.I143T	p.I143T	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			3	562	-			143					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.428T>C	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.131743	0.56828	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.74002	-0.8	5.57	5.57	0.84162	.	0.332080	0.31210	N	0.008041	T	0.60038	0.2238	N	0.19112	0.55	0.34508	D	0.706837	B;B	0.30361	0.181;0.277	B;B	0.24394	0.024;0.053	T	0.69367	-0.5164	10	0.45353	T	0.12	.	14.3027	0.66364	1.0:0.0:0.0:0.0	.	143;143	Q93073;Q93073-2	SBP2L_HUMAN;.	T	143	ENSP00000261847:I143T	ENSP00000261847:I143T	I	-	2	0	SECISBP2L	47114923	0.972000	0.33761	0.707000	0.30419	0.982000	0.71751	6.548000	0.73896	2.114000	0.64651	0.533000	0.62120	ATC		0.483	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		24	95	0	0	0	0	24	95				
TMOD2	29767	broad.mit.edu	37	15	52069169	52069169	+	Silent	SNP	C	C	T	rs372217308		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:52069169C>T	ENST00000249700.4	+	5	668	c.447C>T	c.(445-447)ttC>ttT	p.F149F	TMOD2_ENST00000435126.2_Silent_p.F149F|TMOD2_ENST00000539962.2_Silent_p.F105F	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	149					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		ATCCAAAGTTCGATGAAGAAA	0.413																																						uc002abk.2		NA																	0				ovary(2)	2						c.(445-447)TTC>TTT		neuronal tropomodulin isoform a		T	,	0,4390		0,0,2195	154.0	134.0	141.0		447,447	-0.6	1.0	15		141	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous	TMOD2	NM_001142885.1,NM_014548.3	,	0,1,6487	TT,TC,CC		0.0116,0.0,0.0077	,	149/316,149/352	52069169	1,12975	2195	4293	6488	SO:0001819	synonymous_variant	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52069169C>T	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.447C>T	15.37:g.52069169C>T						TMOD2_uc002abl.3_Silent_p.F149F|TMOD2_uc010bfb.2_Silent_p.F105F	p.F149F	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	5	668	+			149					B4DEW6	Silent	SNP	ENST00000249700.4	37	c.447C>T	CCDS10144.1																																																																																				0.413	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			13	38	0	0	0	0	13	38				
FAM214A	56204	broad.mit.edu	37	15	52905993	52905993	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:52905993C>T	ENST00000261844.7	-	3	230	c.78G>A	c.(76-78)ctG>ctA	p.L26L	FAM214A_ENST00000546305.2_Silent_p.L33L	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	26																	CTTCTGTTATCAGCAAGGCCA	0.408																																						uc002acg.3		NA																	0					0						c.(76-78)CTG>CTA		hypothetical protein LOC56204							116.0	106.0	109.0					15																	52905993		1898	4110	6008	SO:0001819	synonymous_variant	56204							g.chr15:52905993C>T	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.78G>A	15.37:g.52905993C>T						KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Intron|KIAA1370_uc010ugf.1_Silent_p.L33L	p.L26L	NM_019600	NP_062546	Q32MH5	K1370_HUMAN		all cancers(107;0.0803)	3	231	-			26					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	c.78G>A	CCDS45263.1																																																																																				0.408	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		11	27	0	0	0	0	11	27				
ZNF609	23060	broad.mit.edu	37	15	64791723	64791723	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:64791723C>T	ENST00000326648.3	+	1	233	c.105C>T	c.(103-105)atC>atT	p.I35I	ZNF609_ENST00000416172.1_Silent_p.I35I	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	35						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAATCTCATCATTGACCTGG	0.547																																						uc002ann.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(103-105)ATC>ATT		zinc finger protein 609							168.0	149.0	155.0					15																	64791723		2203	4300	6503	SO:0001819	synonymous_variant	23060					nucleus	zinc ion binding	g.chr15:64791723C>T	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.105C>T	15.37:g.64791723C>T						ZNF609_uc010bgy.2_Silent_p.I35I	p.I35I	NM_015042	NP_055857	O15014	ZN609_HUMAN			1	105	+			35					Q0D2I2	Silent	SNP	ENST00000326648.3	37	c.105C>T	CCDS32270.1																																																																																				0.547	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		16	61	0	0	0	0	16	61				
CLPX	10845	broad.mit.edu	37	15	65458988	65458988	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:65458988G>C	ENST00000300107.3	-	4	682	c.494C>G	c.(493-495)cCa>cGa	p.P165R		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	165					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GGGAGGTGGTGGTTTCTGTTG	0.378																																						uc002aom.2		NA																	0					0						c.(493-495)CCA>CGA		ClpX caseinolytic protease X homolog precursor							227.0	220.0	223.0					15																	65458988		2202	4299	6501	SO:0001583	missense	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65458988G>C	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.494C>G	15.37:g.65458988G>C	ENSP00000300107:p.Pro165Arg					CLPX_uc010uiu.1_RNA|CLPX_uc010bhg.1_Missense_Mutation_p.P165R	p.P165R	NM_006660	NP_006651	O76031	CLPX_HUMAN			4	566	-			165					A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	c.494C>G	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475679	0.84640	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.28454	1.61	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	N	0.17248	0.465	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.83275	0.996;0.757	T	0.43458	-0.9390	10	0.56958	D	0.05	.	20.0263	0.97523	0.0:0.0:1.0:0.0	.	165;165	Q9H072;O76031	.;CLPX_HUMAN	R	165	ENSP00000300107:P165R	ENSP00000300107:P165R	P	-	2	0	CLPX	63246041	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.614000	0.98353	2.735000	0.93741	0.655000	0.94253	CCA		0.378	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		52	137	0	0	0	0	52	137				
CILP	8483	broad.mit.edu	37	15	65499240	65499240	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:65499240C>T	ENST00000261883.4	-	4	470	c.304G>A	c.(304-306)Gcg>Acg	p.A102T		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	102					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTGCTGCCCGCAGGTGTCCAG	0.627																																						uc002aon.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(304-306)GCG>ACG		cartilage intermediate layer protein							35.0	33.0	33.0					15																	65499240		2201	4299	6500	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65499240C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.304G>A	15.37:g.65499240C>T	ENSP00000261883:p.Ala102Thr						p.A102T	NM_003613	NP_003604	O75339	CILP1_HUMAN			4	485	-			102					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.304G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989679	0.74589	.	.	ENSG00000138615	ENST00000261883	T	0.17691	2.26	5.58	5.58	0.84498	.	0.208513	0.49305	D	0.000157	T	0.28300	0.0699	M	0.79123	2.44	0.47949	D	0.999555	B	0.31752	0.338	B	0.37015	0.239	T	0.02639	-1.1130	10	0.30078	T	0.28	-11.4922	17.0674	0.86563	0.0:1.0:0.0:0.0	.	102	O75339	CILP1_HUMAN	T	102	ENSP00000261883:A102T	ENSP00000261883:A102T	A	-	1	0	CILP	63286293	0.997000	0.39634	0.076000	0.20297	0.705000	0.40729	4.055000	0.57441	2.619000	0.88677	0.561000	0.74099	GCG		0.627	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		6	24	0	0	0	0	6	24				
SMAD3	4088	broad.mit.edu	37	15	67482843	67482843	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:67482843C>T	ENST00000327367.4	+	9	1557	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	SMAD3_ENST00000439724.3_Missense_Mutation_p.S372F|SMAD3_ENST00000537194.2_Missense_Mutation_p.S221F|SMAD3_ENST00000540846.2_Missense_Mutation_p.S311F	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	416	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CAGATGGGCTCCCCAAGCATC	0.547																																						uc002aqj.2		NA																	0				large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(1246-1248)TCC>TTC		mothers against decapentaplegic homolog 3							60.0	52.0	55.0					15																	67482843		2201	4299	6500	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67482843C>T	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.1247C>T	15.37:g.67482843C>T	ENSP00000332973:p.Ser416Phe					SMAD3_uc010ujr.1_Missense_Mutation_p.S311F|SMAD3_uc010ujs.1_Missense_Mutation_p.S372F|SMAD3_uc010ujt.1_Missense_Mutation_p.S221F	p.S416F	NM_005902	NP_005893	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	9	1545	+			416			MH2.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.1247C>T	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020704	0.93462	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	4.97	4.97	0.65823	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (1);	0.000000	0.85682	D	0.000000	D	0.98327	0.9445	M	0.88377	2.95	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.57502	0.822;0.822	D	0.99529	1.0960	10	0.87932	D	0	.	18.2521	0.90007	0.0:1.0:0.0:0.0	.	372;416	B7Z4Z5;P84022	.;SMAD3_HUMAN	F	416;416;311;372;221	ENSP00000332973:S416F;ENSP00000437757:S311F;ENSP00000401133:S372F;ENSP00000445348:S221F	ENSP00000332973:S416F	S	+	2	0	SMAD3	65269897	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.723000	0.84788	2.318000	0.78349	0.561000	0.74099	TCC		0.547	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		14	15	0	0	0	0	14	15				
HCN4	10021	broad.mit.edu	37	15	73615835	73615835	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:73615835C>A	ENST00000261917.3	-	8	3592	c.2599G>T	c.(2599-2601)Gcc>Tcc	p.A867S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	867					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCAGCGGGGGCAGAGAATCCA	0.692																																						uc002avp.2		NA																	0				ovary(5)|liver(1)	6						c.(2599-2601)GCC>TCC		hyperpolarization activated cyclic							49.0	51.0	50.0					15																	73615835		2198	4293	6491	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73615835C>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2599G>T	15.37:g.73615835C>A	ENSP00000261917:p.Ala867Ser						p.A867S	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3593	-			867			Cytoplasmic (Potential).		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.2599G>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	4.908	0.168762	0.09339	.	.	ENSG00000138622	ENST00000261917	T	0.79940	-1.32	3.21	2.28	0.28536	.	.	.	.	.	T	0.61248	0.2332	N	0.14661	0.345	0.25111	N	0.990716	B	0.18461	0.028	B	0.09377	0.004	T	0.39461	-0.9613	9	0.07990	T	0.79	.	9.9838	0.41830	0.0:0.8978:0.0:0.1022	.	867	Q9Y3Q4	HCN4_HUMAN	S	867	ENSP00000261917:A867S	ENSP00000261917:A867S	A	-	1	0	HCN4	71402888	0.420000	0.25457	0.464000	0.27143	0.886000	0.51366	1.833000	0.39161	0.537000	0.28751	0.448000	0.29417	GCC		0.692	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		8	38	1	0	0.000157383	0.000164885	8	38				
HCN4	10021	broad.mit.edu	37	15	73616079	73616079	+	Silent	SNP	G	G	A	rs554689537		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:73616079G>A	ENST00000261917.3	-	8	3348	c.2355C>T	c.(2353-2355)gcC>gcT	p.A785A		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	785					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGTGGCAGCGGCAGCCTGCA	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		10252	0.001		0.0	False		,,,				2504	0.0					uc002avp.2		NA																	0				ovary(5)|liver(1)	6						c.(2353-2355)GCC>GCT		hyperpolarization activated cyclic							24.0	28.0	27.0					15																	73616079		2195	4295	6490	SO:0001819	synonymous_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616079G>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2355C>T	15.37:g.73616079G>A							p.A785A	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3349	-			785			Cytoplasmic (Potential).		Q9UMQ7	Silent	SNP	ENST00000261917.3	37	c.2355C>T	CCDS10248.1																																																																																				0.701	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		8	26	0	0	0	0	8	26				
PML	5371	broad.mit.edu	37	15	74325651	74325651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:74325651C>T	ENST00000268058.3	+	6	1649	c.1553C>T	c.(1552-1554)tCa>tTa	p.S518L	PML_ENST00000565898.1_Missense_Mutation_p.S470L|PML_ENST00000268059.6_Missense_Mutation_p.S518L|PML_ENST00000395135.3_Missense_Mutation_p.S518L|PML_ENST00000436891.3_Missense_Mutation_p.S518L|PML_ENST00000435786.2_Missense_Mutation_p.S518L|PML_ENST00000567543.1_Intron|PML_ENST00000569965.1_Missense_Mutation_p.S518L|PML_ENST00000569477.1_Missense_Mutation_p.S518L|PML_ENST00000354026.6_Missense_Mutation_p.S470L|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Missense_Mutation_p.S470L|PML_ENST00000395132.2_Intron|PML_ENST00000563500.1_Missense_Mutation_p.S470L	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	518	Interaction with PER2.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AAGGCAGTCTCACCACCCCAC	0.657			T	"""RARA, PAX5"""	"""APL, ALL"""																																	uc002awv.2		NA		Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	RARA|PAX5		APL|ALL		0				central_nervous_system(2)|kidney(2)|breast(1)	5						c.(1552-1554)TCA>TTA		promyelocytic leukemia protein isoform 1							60.0	56.0	58.0					15																	74325651		2198	4297	6495	SO:0001583	missense	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding	g.chr15:74325651C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1553C>T	15.37:g.74325651C>T	ENSP00000268058:p.Ser518Leu					PML_uc002awm.2_Missense_Mutation_p.S518L|PML_uc002awl.2_Intron|PML_uc002awj.1_Missense_Mutation_p.S470L|PML_uc002awk.2_Missense_Mutation_p.S518L|PML_uc002awn.2_Missense_Mutation_p.S518L|PML_uc002awo.2_Missense_Mutation_p.S470L|PML_uc002awp.2_Intron|PML_uc002awq.2_Missense_Mutation_p.S518L|PML_uc002awr.2_Missense_Mutation_p.S518L|PML_uc002aws.2_Missense_Mutation_p.S470L|PML_uc002awt.2_Intron|PML_uc002awu.2_Missense_Mutation_p.S470L|PML_uc010ule.1_Missense_Mutation_p.S79L|PML_uc002awx.2_Missense_Mutation_p.S228L|PML_uc002awy.2_5'UTR	p.S518L	NM_033238	NP_150241	P29590	PML_HUMAN			6	1693	+			518					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1553C>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656528	0.88154	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000436891;ENST00000268058;ENST00000268059;ENST00000354026;ENST00000417341;ENST00000418568	T	0.56776	0.44	4.55	3.61	0.41365	.	1.625990	0.03545	N	0.224492	T	0.71779	0.3380	M	0.63843	1.955	0.09310	N	1	P;D;D;D;D;D;P;P;P;D	0.76494	0.664;0.999;0.988;0.988;0.999;0.996;0.922;0.897;0.493;0.99	P;D;P;P;D;D;P;P;B;P	0.72075	0.447;0.976;0.844;0.844;0.974;0.922;0.592;0.624;0.3;0.903	T	0.49826	-0.8898	10	0.87932	D	0	-3.4066	10.4438	0.44481	0.1956:0.8044:0.0:0.0	.	518;518;470;470;518;470;518;518;518;473	P29590-3;P29590;P29590-11;P29590-12;P29590-5;P29590-13;P29590-4;P29590-2;P29590-8;Q59H09	.;PML_HUMAN;.;.;.;.;.;.;.;.	L	518;518;518;518;518;470;79;518	ENSP00000268058:S518L	ENSP00000268058:S518L	S	+	2	0	PML	72112704	0.050000	0.20438	0.013000	0.15412	0.917000	0.54804	1.853000	0.39358	1.200000	0.43188	0.549000	0.68633	TCA		0.657	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		9	28	0	0	0	0	9	28				
GOLGA6A	342096	broad.mit.edu	37	15	74365132	74365132	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:74365132C>G	ENST00000290438.3	-	13	1492	c.1452G>C	c.(1450-1452)caG>caC	p.Q484H	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	484						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GCTGTTGGTTCTGGTGGCTGG	0.622																																						uc002axa.1		NA																	0					0						c.(1450-1452)CAG>CAC		golgi autoantigen, golgin subfamily a, 6							87.0	108.0	101.0					15																	74365132		2163	4297	6460	SO:0001583	missense	342096							g.chr15:74365132C>G	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.1452G>C	15.37:g.74365132C>G	ENSP00000290438:p.Gln484His						p.Q484H	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN			13	1493	-			484			Potential.		A8K959|Q9NYA7	Missense_Mutation	SNP	ENST00000290438.3	37	c.1452G>C	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498366	0.26861	.	.	ENSG00000159289	ENST00000290438	T	0.23754	1.89	1.55	1.55	0.23275	.	.	.	.	.	T	0.30510	0.0767	M	0.76170	2.325	0.21445	N	0.999687	B	0.31125	0.309	B	0.37198	0.243	T	0.29941	-0.9995	9	0.52906	T	0.07	.	6.6073	0.22731	0.0:1.0:0.0:0.0	.	484	Q9NYA3	GOG6A_HUMAN	H	484	ENSP00000290438:Q484H	ENSP00000290438:Q484H	Q	-	3	2	GOLGA6A	72152185	0.007000	0.16637	0.931000	0.37212	0.010000	0.07245	-0.217000	0.09253	1.182000	0.42928	0.162000	0.16502	CAG		0.622	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		5	85	0	0	0	0	5	85				
PEAK1	79834	broad.mit.edu	37	15	77471990	77471990	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:77471990C>T	ENST00000560626.2	-	4	2754	c.2279G>A	c.(2278-2280)aGa>aAa	p.R760K	PEAK1_ENST00000558305.1_Missense_Mutation_p.R760K|PEAK1_ENST00000312493.4_Missense_Mutation_p.R760K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	760					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGCTTTCTCTCTGGTGCTGCT	0.537																																						uc002bcm.2		NA																	0					0						c.(2278-2280)AGA>AAA		NKF3 kinase family member							80.0	79.0	79.0					15																	77471990		2024	4198	6222	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77471990C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.2279G>A	15.37:g.77471990C>T	ENSP00000452796:p.Arg760Lys					SGK269_uc002bcn.2_Missense_Mutation_p.R760K	p.R760K	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	3	2587	-			760					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.2279G>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167049	0.38217	.	.	ENSG00000173517	ENST00000312493	T	0.70749	-0.51	5.89	4.98	0.66077	.	0.153024	0.40144	N	0.001173	T	0.58148	0.2102	N	0.19112	0.55	0.37066	D	0.898315	B	0.11235	0.004	B	0.10450	0.005	T	0.59658	-0.7413	10	0.52906	T	0.07	-13.4607	15.0544	0.71901	0.0:0.9321:0.0:0.0679	.	760	Q9H792	PEAK1_HUMAN	K	760	ENSP00000309230:R760K	ENSP00000309230:R760K	R	-	2	0	AC087465.1	75259045	0.962000	0.33011	0.863000	0.33907	0.431000	0.31685	3.682000	0.54656	1.500000	0.48636	0.655000	0.94253	AGA		0.537	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			32	72	0	0	0	0	32	72				
CPEB1	64506	broad.mit.edu	37	15	83221346	83221346	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:83221346C>A	ENST00000562019.1	-	8	1415	c.1099G>T	c.(1099-1101)Gaa>Taa	p.E367*	CPEB1_ENST00000568757.1_Nonsense_Mutation_p.E287*|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000398591.2_Nonsense_Mutation_p.E292*|CPEB1_ENST00000563800.1_Nonsense_Mutation_p.E389*|CPEB1_ENST00000398592.2_Nonsense_Mutation_p.E136*|CPEB1_ENST00000423133.2_Nonsense_Mutation_p.E287*|CPEB1_ENST00000261723.6_Nonsense_Mutation_p.E365*|RP11-152F13.10_ENST00000562833.1_Silent_p.S96S|CPEB1_ENST00000450751.2_Nonsense_Mutation_p.E287*|CPEB1_ENST00000564522.1_Nonsense_Mutation_p.E287*|CPEB1_ENST00000568128.1_Nonsense_Mutation_p.E362*			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	367	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTCTCTAGTTCGAAGACCAGA	0.493																																						uc002bit.2		NA																	0				ovary(1)|breast(1)	2						c.(1279-1281)GAA>TAA		cytoplasmic polyadenylation element binding							110.0	108.0	109.0					15																	83221346		1989	4169	6158	SO:0001587	stop_gained	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83221346C>A	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1099G>T	15.37:g.83221346C>A	ENSP00000457836:p.Glu367*					CPEB1_uc002biq.2_Nonsense_Mutation_p.E287*|CPEB1_uc002bir.2_Nonsense_Mutation_p.E292*|CPEB1_uc002bis.2_Nonsense_Mutation_p.E287*|CPEB1_uc010uod.1_Nonsense_Mutation_p.E136*|CPEB1_uc010uoe.1_Nonsense_Mutation_p.E365*|CPEB1_uc002biu.2_Nonsense_Mutation_p.E389*|CPEB1_uc010uof.1_Nonsense_Mutation_p.E287*|CPEB1_uc002biv.2_Nonsense_Mutation_p.E362*|CPEB1_uc002bip.2_Nonsense_Mutation_p.E136*	p.E427*	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		8	1416	-			367			RRM 1.|Necessary for stress granule assembly and correct localization in dcp1 bodies.		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Nonsense_Mutation	SNP	ENST00000562019.1	37	c.1279G>T		.	.	.	.	.	.	.	.	.	.	C	38	7.243941	0.98161	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	.	.	.	5.84	4.92	0.64577	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-12.7977	14.6868	0.69055	0.0:0.9305:0.0:0.0695	.	.	.	.	X	362;362;287;292;365;136	.	ENSP00000261723:E365X	E	-	1	0	CPEB1	81018401	1.000000	0.71417	0.940000	0.37924	0.977000	0.68977	6.015000	0.70791	1.471000	0.48121	0.563000	0.77884	GAA		0.493	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		18	56	1	0	4.97e-08	5.32e-08	18	56				
POLG	5428	broad.mit.edu	37	15	89862269	89862269	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:89862269C>T	ENST00000268124.5	-	20	3499	c.3166G>A	c.(3166-3168)Gaa>Aaa	p.E1056K	POLG_ENST00000442287.2_Missense_Mutation_p.E1056K	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1056					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTGAACATTTCTGACTCTGTG	0.562								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	uc002bns.3		NA																	0				ovary(1)|lung(1)	2						c.(3166-3168)GAA>AAA	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase gamma							142.0	124.0	130.0					15																	89862269		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89862269C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.3166G>A	15.37:g.89862269C>T	ENSP00000268124:p.Glu1056Lys					POLG_uc002bnr.3_Missense_Mutation_p.E1056K	p.E1056K	NM_002693	NP_002684	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		20	3448	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		1056					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.3166G>A	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485299	0.63962	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96774	-4.12;-4.12	5.35	5.35	0.76521	DNA-directed DNA polymerase, family A, palm domain (2);	0.149754	0.64402	D	0.000014	D	0.95040	0.8394	L	0.46157	1.445	0.50467	D	0.999874	P	0.49559	0.925	P	0.48270	0.572	D	0.93426	0.6781	10	0.29301	T	0.29	-17.8471	14.8133	0.70010	0.0:0.8565:0.1435:0.0	.	1056	P54098	DPOG1_HUMAN	K	1056	ENSP00000268124:E1056K;ENSP00000399851:E1056K	ENSP00000268124:E1056K	E	-	1	0	POLG	87663273	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	3.425000	0.52771	2.785000	0.95823	0.655000	0.94253	GAA		0.562	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		6	93	0	0	0	0	6	93				
PRC1	9055	broad.mit.edu	37	15	91510405	91510405	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr15:91510405C>G	ENST00000442656.2	-	13	1684	c.1577G>C	c.(1576-1578)tGa>tCa	p.*526S	PRC1_ENST00000394249.3_Missense_Mutation_p.D607H|PRC1_ENST00000361188.5_Missense_Mutation_p.D593H|PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000361919.3_Nonstop_Mutation_p.*567S	NM_001267580.1	NP_001254509			protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GAAGTAGCATCAGATTTGGAA	0.448																																						uc002bqm.2		NA																	0				ovary(1)|skin(1)	2						c.(1819-1821)GAT>CAT		protein regulator of cytokinesis 1 isoform 1							132.0	126.0	128.0					15																	91510405		2198	4298	6496	SO:0001578	stop_lost	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91510405C>G	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000442656.2:c.1577G>C	15.37:g.91510405C>G						PRC1_uc002bqn.2_Missense_Mutation_p.D593H|PRC1_uc002bqo.2_Nonstop_Mutation_p.*567S|PRC1_uc010uqs.1_Nonstop_Mutation_p.*526S	p.D607H	NM_003981	NP_003972	O43663	PRC1_HUMAN			15	1976	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		607			Unstructured, Arg/Lys rich.			Missense_Mutation	SNP	ENST00000442656.2	37	c.1819G>C	CCDS45353.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.10|17.10	3.302682|3.302682	0.60195|0.60195	.|.	.|.	ENSG00000198901|ENSG00000198901	ENST00000394249;ENST00000361188|ENST00000361919;ENST00000442656	T;T|.	0.34859|.	1.34;1.57|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.390220|.	0.30930|.	N|.	0.008597|.	T|.	0.42698|.	0.1214|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D;D|.	0.58620|.	0.979;0.983|.	P;P|.	0.61722|.	0.829;0.893|.	T|.	0.30995|.	-0.9959|.	9|.	0.48119|.	T|.	0.1|.	-20.4244|-20.4244	12.548|12.548	0.56212|0.56212	0.0:0.924:0.0:0.076|0.0:0.924:0.0:0.076	.|.	563;607|.	O43663-2;O43663|.	.;PRC1_HUMAN|.	H|S	607;593|567;526	ENSP00000377793:D607H;ENSP00000354679:D593H|.	ENSP00000354679:D593H|.	D|X	-|-	1|2	0|2	PRC1|PRC1	89311409|89311409	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.848000|3.848000	0.55903|0.55903	2.875000|2.875000	0.98604|0.98604	0.644000|0.644000	0.83932|0.83932	GAT|TGA		0.448	PRC1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414762.1	NM_003981		22	55	0	0	0	0	22	55				
XYLT1	64131	broad.mit.edu	37	16	17235129	17235129	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:17235129C>G	ENST00000261381.6	-	7	1552	c.1468G>C	c.(1468-1470)Gat>Cat	p.D490H	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	490					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAACCGCCATCCACGGCAATG	0.567																																						uc002dfa.2		NA																	0				ovary(4)	4						c.(1468-1470)GAT>CAT		xylosyltransferase I							106.0	108.0	108.0					16																	17235129		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17235129C>G	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1468G>C	16.37:g.17235129C>G	ENSP00000261381:p.Asp490His						p.D490H	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			7	1553	-			490			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1468G>C	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776349	0.70107	.	.	ENSG00000103489	ENST00000261381	T	0.11821	2.74	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.09975	-1.0650	10	0.52906	T	0.07	-27.5973	19.2967	0.94126	0.0:1.0:0.0:0.0	.	490	Q86Y38	XYLT1_HUMAN	H	490	ENSP00000261381:D490H	ENSP00000261381:D490H	D	-	1	0	XYLT1	17142630	1.000000	0.71417	0.986000	0.45419	0.080000	0.17528	5.972000	0.70448	2.797000	0.96272	0.555000	0.69702	GAT		0.567	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		38	102	0	0	0	0	38	102				
CD2BP2	10421	broad.mit.edu	37	16	30365574	30365574	+	Missense_Mutation	SNP	C	C	T	rs200106085		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:30365574C>T	ENST00000305596.3	-	3	323	c.148G>A	c.(148-150)Gat>Aat	p.D50N	CD2BP2_ENST00000569466.1_Missense_Mutation_p.D50N|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	50					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TCCTCCTCATCGCTATCCAAA	0.527																																						uc002dxr.2		NA																	0				ovary(1)	1						c.(148-150)GAT>AAT		CD2 antigen (cytoplasmic tail) binding protein							230.0	223.0	225.0					16																	30365574		2197	4300	6497	SO:0001583	missense	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365574C>T	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.148G>A	16.37:g.30365574C>T	ENSP00000304903:p.Asp50Asn					CD2BP2_uc002dxs.2_Missense_Mutation_p.D50N	p.D50N	NM_006110	NP_006101	O95400	CD2B2_HUMAN			2	401	-			50					B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	c.148G>A	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807885	0.90623	.	.	ENSG00000169217	ENST00000305596	T	0.41758	0.99	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68202	-0.5471	10	0.35671	T	0.21	-0.8517	16.9908	0.86353	0.0:1.0:0.0:0.0	.	50	O95400	CD2B2_HUMAN	N	50	ENSP00000304903:D50N	ENSP00000304903:D50N	D	-	1	0	CD2BP2	30273075	1.000000	0.71417	0.994000	0.49952	0.826000	0.46750	6.481000	0.73608	2.380000	0.81148	0.467000	0.42956	GAT		0.527	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		61	189	0	0	0	0	61	189				
SLC5A2	6524	broad.mit.edu	37	16	31499472	31499472	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:31499472G>C	ENST00000330498.3	+	8	1018	c.999G>C	c.(997-999)atG>atC	p.M333I	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	333					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TGCCAGGCATGATCAGCCGCA	0.627																																						uc002ecf.3		NA																	0				ovary(1)	1						c.(997-999)ATG>ATC		solute carrier family 5 (sodium/glucose							139.0	131.0	134.0					16																	31499472		2197	4300	6497	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31499472G>C		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.999G>C	16.37:g.31499472G>C	ENSP00000327943:p.Met333Ile					SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA	p.M333I	NM_003041	NP_003032	P31639	SC5A2_HUMAN			8	1018	+			333			Helical; (Potential).		A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.999G>C	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251237	0.80135	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.88741	-2.42;-2.42	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	D	0.91040	0.7181	L	0.41710	1.295	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	D	0.90890	0.4760	10	0.46703	T	0.11	.	13.9651	0.64205	0.0:0.0:1.0:0.0	.	333	P31639	SC5A2_HUMAN	I	333	ENSP00000327943:M333I;ENSP00000410601:M333I	ENSP00000327943:M333I	M	+	3	0	SLC5A2	31406973	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.409000	0.97331	2.140000	0.66376	0.462000	0.41574	ATG		0.627	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			24	90	0	0	0	0	24	90				
OGFOD1	55239	broad.mit.edu	37	16	56492471	56492471	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:56492471G>C	ENST00000566157.1	+	3	435	c.312G>C	c.(310-312)ttG>ttC	p.L104F	OGFOD1_ENST00000565209.1_3'UTR|OGFOD1_ENST00000568397.1_Missense_Mutation_p.L104F	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	104					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CTGATGATTTGAAGAAGAGAA	0.378																																						uc002ejb.2		NA																	0				skin(1)	1						c.(310-312)TTG>TTC		2-oxoglutarate and iron-dependent oxygenase	Vitamin C(DB00126)						163.0	149.0	154.0					16																	56492471		2198	4300	6498	SO:0001583	missense	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56492471G>C	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.312G>C	16.37:g.56492471G>C	ENSP00000457258:p.Leu104Phe					OGFOD1_uc002ejc.2_5'UTR	p.L104F	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN			3	413	+			104					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	c.312G>C	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137509	0.37728	.	.	ENSG00000087263	ENST00000336111	.	.	.	5.24	3.07	0.35406	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.74099	0.3672	M	0.80508	2.5	0.58432	D	0.999995	D	0.65815	0.995	P	0.58873	0.847	T	0.75187	-0.3406	9	0.72032	D	0.01	-4.7227	10.3248	0.43787	0.1763:0.0:0.8237:0.0	.	104	Q8N543	OGFD1_HUMAN	F	104	.	ENSP00000337196:L104F	L	+	3	2	OGFOD1	55049972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.947000	0.40293	0.465000	0.27167	0.650000	0.86243	TTG		0.378	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		7	31	0	0	0	0	7	31				
OGFOD1	55239	broad.mit.edu	37	16	56492479	56492479	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:56492479G>A	ENST00000566157.1	+	3	443	c.320G>A	c.(319-321)aGa>aAa	p.R107K	OGFOD1_ENST00000565209.1_3'UTR|OGFOD1_ENST00000568397.1_Missense_Mutation_p.R107K	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	107					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	TTGAAGAAGAGAAGAGAGCCT	0.368																																						uc002ejb.2		NA																	0				skin(1)	1						c.(319-321)AGA>AAA		2-oxoglutarate and iron-dependent oxygenase	Vitamin C(DB00126)						165.0	150.0	155.0					16																	56492479		2198	4300	6498	SO:0001583	missense	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56492479G>A	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.320G>A	16.37:g.56492479G>A	ENSP00000457258:p.Arg107Lys					OGFOD1_uc002ejc.2_5'UTR	p.R107K	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN			3	421	+			107					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	c.320G>A	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788665	0.70337	.	.	ENSG00000087263	ENST00000336111	.	.	.	5.24	5.24	0.73138	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.58101	1.795	0.54753	D	0.999988	B	0.33266	0.404	B	0.29524	0.103	T	0.51639	-0.8680	9	0.06236	T	0.91	-14.342	17.5829	0.87973	0.0:0.0:1.0:0.0	.	107	Q8N543	OGFD1_HUMAN	K	107	.	ENSP00000337196:R107K	R	+	2	0	OGFOD1	55049980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.650000	0.83521	2.421000	0.82119	0.650000	0.86243	AGA		0.368	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		7	31	0	0	0	0	7	31				
BBS2	583	broad.mit.edu	37	16	56535295	56535295	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:56535295G>C	ENST00000245157.5	-	10	1615	c.1195C>G	c.(1195-1197)Cat>Gat	p.H399D	BBS2_ENST00000561951.1_5'Flank|BBS2_ENST00000568104.1_Missense_Mutation_p.H399D	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	399					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						AATTCTGTATGAGCAGTTTGG	0.478									Bardet-Biedl syndrome																													uc002ejd.2		NA																	0				ovary(1)	1						c.(1195-1197)CAT>GAT		Bardet-Biedl syndrome 2 protein							244.0	223.0	230.0					16																	56535295		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56535295G>C	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1195C>G	16.37:g.56535295G>C	ENSP00000245157:p.His399Asp					BBS2_uc010ccg.2_3'UTR	p.H399D	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN			10	1429	-			399					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.1195C>G	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594445	0.28445	.	.	ENSG00000125124	ENST00000245157	D	0.90900	-2.75	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.94974	0.8374	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	D	0.94130	0.7387	10	0.34782	T	0.22	-13.404	18.3656	0.90390	0.0:0.0:1.0:0.0	.	399	Q9BXC9	BBS2_HUMAN	D	399	ENSP00000245157:H399D	ENSP00000245157:H399D	H	-	1	0	BBS2	55092796	1.000000	0.71417	0.370000	0.25965	0.274000	0.26718	8.959000	0.93110	2.344000	0.79699	0.650000	0.86243	CAT		0.478	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		36	127	0	0	0	0	36	127				
TEPP	374739	broad.mit.edu	37	16	58019836	58019836	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:58019836C>G	ENST00000441824.2	+	7	813	c.776C>G	c.(775-777)tCc>tGc	p.S259C	TEPP_ENST00000290871.5_Missense_Mutation_p.S286C|TEPP_ENST00000569996.1_3'UTR	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	259						extracellular region (GO:0005576)		p.S286Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						AGCTTCGGCTCCAGCTACAGG	0.652																																						uc002emw.3		NA																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(1)|central_nervous_system(1)|skin(1)	3						c.(775-777)TCC>TGC		testis/prostate/placenta-expressed protein							51.0	47.0	48.0					16																	58019836		2198	4300	6498	SO:0001583	missense	374739					extracellular region		g.chr16:58019836C>G	BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.776C>G	16.37:g.58019836C>G	ENSP00000401917:p.Ser259Cys					TEPP_uc002emv.3_Missense_Mutation_p.S286C	p.S259C	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN			7	813	+			259					Q6URK7	Missense_Mutation	SNP	ENST00000441824.2	37	c.776C>G	CCDS45496.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271291	0.40194	.	.	ENSG00000159648	ENST00000290871;ENST00000441824	T;T	0.54071	0.59;0.61	5.57	3.61	0.41365	.	0.331184	0.25968	N	0.027155	T	0.68495	0.3007	M	0.79123	2.44	0.25331	N	0.989037	D;D	0.89917	1.0;1.0	D;D	0.76575	0.98;0.988	T	0.59773	-0.7391	10	0.62326	D	0.03	-2.6834	7.9098	0.29785	0.0:0.7531:0.161:0.0859	.	259;286	Q6URK8;Q6URK8-2	TEPP_HUMAN;.	C	286;259	ENSP00000290871:S286C;ENSP00000401917:S259C	ENSP00000290871:S286C	S	+	2	0	TEPP	56577337	0.483000	0.25956	0.536000	0.28039	0.103000	0.19146	1.485000	0.35519	0.707000	0.31934	0.549000	0.68633	TCC		0.652	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000431966.1	NM_199456		8	46	0	0	0	0	8	46				
CCDC113	29070	broad.mit.edu	37	16	58296295	58296295	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:58296295G>C	ENST00000219299.4	+	6	713	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	CCDC113_ENST00000443128.2_Missense_Mutation_p.E158Q	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	212						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GTAGAAGGAAGAGGTGAGTGA	0.418																																						uc002ene.2		NA																	0					0						c.(634-636)GAG>CAG		coiled-coil domain containing 113 isoform 1							166.0	149.0	154.0					16																	58296295		2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58296295G>C	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.634G>C	16.37:g.58296295G>C	ENSP00000219299:p.Glu212Gln					CCDC113_uc010vid.1_Missense_Mutation_p.E158Q	p.E212Q	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN			6	713	+			212			Potential.		B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.634G>C	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318101	0.40996	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.40756	1.09;1.02	5.49	5.49	0.81192	.	0.276193	0.35970	N	0.002863	T	0.43433	0.1247	M	0.69358	2.11	0.50171	D	0.999855	B;B	0.34103	0.267;0.437	B;B	0.33890	0.129;0.172	T	0.29882	-0.9997	10	0.22706	T	0.39	-10.0485	16.8475	0.85985	0.0:0.0:1.0:0.0	.	158;212	B4DR20;Q9H0I3	.;CC113_HUMAN	Q	158;212	ENSP00000402588:E158Q;ENSP00000219299:E212Q	ENSP00000219299:E212Q	E	+	1	0	CCDC113	56853796	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	5.329000	0.65892	2.589000	0.87451	0.643000	0.83706	GAG		0.418	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		29	94	0	0	0	0	29	94				
GOT2	2806	broad.mit.edu	37	16	58757719	58757719	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:58757719C>G	ENST00000245206.5	-	2	305	c.177G>C	c.(175-177)aaG>aaC	p.K59N	GOT2_ENST00000434819.2_Missense_Mutation_p.K59N|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	59					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	CCAGATTCATCTTTTTGCTAT	0.493																																						uc002eof.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(175-177)AAG>AAC		aspartate aminotransferase 2 precursor	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						182.0	179.0	180.0					16																	58757719		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58757719C>G		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.177G>C	16.37:g.58757719C>G	ENSP00000245206:p.Lys59Asn					GOT2_uc010vim.1_Missense_Mutation_p.K59N	p.K59N	NM_002080	NP_002071	P00505	AATM_HUMAN			2	291	-			59					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.177G>C	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251522	0.80135	.	.	ENSG00000125166	ENST00000245206;ENST00000434819;ENST00000425685	D;T	0.91577	-2.87;1.77	5.46	4.51	0.55191	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.993;0.998	D	0.98050	1.0387	9	.	.	.	-17.8509	13.2715	0.60164	0.0:0.9239:0.0:0.0761	.	59;59	E7ERW2;P00505	.;AATM_HUMAN	N	59	ENSP00000245206:K59N;ENSP00000394100:K59N	.	K	-	3	2	GOT2	57315220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.151000	0.50670	1.323000	0.45263	0.655000	0.94253	AAG		0.493	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			41	137	0	0	0	0	41	137				
LRRC36	55282	broad.mit.edu	37	16	67405069	67405069	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:67405069G>C	ENST00000329956.6	+	9	1437	c.1418G>C	c.(1417-1419)aGa>aCa	p.R473T	LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.R352T|LRRC36_ENST00000290940.7_Missense_Mutation_p.R205T|LRRC36_ENST00000435835.3_Missense_Mutation_p.R352T	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	473										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CCATCGAAGAGAGGATTCAAA	0.468																																						uc002esv.2		NA																	0					0						c.(1417-1419)AGA>ACA		leucine rich repeat containing 36 isoform 1							147.0	133.0	138.0					16																	67405069		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67405069G>C	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1418G>C	16.37:g.67405069G>C	ENSP00000329943:p.Arg473Thr					LRRC36_uc002esw.2_RNA|LRRC36_uc010ceh.2_Missense_Mutation_p.R205T|LRRC36_uc002esx.2_Missense_Mutation_p.R352T|LRRC36_uc010vjk.1_Missense_Mutation_p.R352T|LRRC36_uc010vjl.1_5'UTR|LRRC36_uc002esy.2_Intron	p.R473T	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	9	1437	+		Ovarian(137;0.192)	473					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.1418G>C	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821205	0.50633	.	.	ENSG00000159708	ENST00000329956;ENST00000290940;ENST00000435835	T;T;T	0.55588	2.85;0.51;1.1	5.84	4.89	0.63831	.	0.173614	0.41396	D	0.000887	T	0.59115	0.2170	L	0.56769	1.78	0.80722	D	1	P;P;P;B	0.51351	0.59;0.944;0.634;0.447	B;P;B;B	0.52957	0.286;0.714;0.167;0.286	T	0.61912	-0.6965	10	0.59425	D	0.04	-7.6007	10.6884	0.45856	0.0869:0.0:0.9131:0.0	.	352;205;352;473	B7Z7B3;Q9NV11;Q1X8D7-2;Q1X8D7	.;.;.;LRC36_HUMAN	T	473;205;352	ENSP00000329943:R473T;ENSP00000290940:R205T;ENSP00000411122:R352T	ENSP00000290940:R205T	R	+	2	0	LRRC36	65962570	1.000000	0.71417	0.994000	0.49952	0.919000	0.55068	2.248000	0.43160	1.492000	0.48499	0.655000	0.94253	AGA		0.468	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		23	90	0	0	0	0	23	90				
FAM65A	79567	broad.mit.edu	37	16	67573997	67573997	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:67573997C>T	ENST00000379312.3	+	7	589	c.468C>T	c.(466-468)ctC>ctT	p.L156L	FAM65A_ENST00000540839.3_Silent_p.L172L|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000566522.1_3'UTR|CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Silent_p.L166L|FAM65A_ENST00000422602.2_Silent_p.L172L|FAM65A_ENST00000042381.4_Silent_p.L152L	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	156						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AGCGGCGTCTCCGGGATGGTG	0.637																																						uc010vjp.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(514-516)CTC>CTT		hypothetical protein LOC79567							110.0	105.0	107.0					16																	67573997		2198	4300	6498	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67573997C>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.468C>T	16.37:g.67573997C>T						FAM65A_uc010cei.1_5'UTR|FAM65A_uc002eth.2_Silent_p.L152L|FAM65A_uc010cej.2_Silent_p.L155L|FAM65A_uc002eti.1_Silent_p.L115L|FAM65A_uc010vjq.1_Silent_p.L166L|FAM65A_uc002etj.1_Silent_p.L151L|FAM65A_uc002etk.2_Silent_p.L151L	p.L172L	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	7	612	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	156					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.516C>T	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405253	0.62288	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.22	-0.824	0.10812	.	.	.	.	.	T	0.40119	0.1104	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28073	-1.0055	4	.	.	.	-9.7254	1.5528	0.02578	0.2088:0.4077:0.1035:0.2801	.	.	.	.	S	147	.	.	P	+	1	0	FAM65A	66131498	0.007000	0.16637	0.999000	0.59377	0.981000	0.71138	-1.305000	0.02738	0.213000	0.20722	-0.458000	0.05436	CCG		0.637	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		30	72	0	0	0	0	30	72				
HAS3	3038	broad.mit.edu	37	16	69148496	69148496	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:69148496G>A	ENST00000306560.1	+	4	1145	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	HAS3_ENST00000569188.1_Missense_Mutation_p.R330Q|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	330					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.R330Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CTTGGCTACCGAACTAAGTAT	0.582																																						uc010cfh.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(988-990)CGA>CAA		hyaluronan synthase 3 isoform a							65.0	61.0	63.0					16																	69148496		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148496G>A	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.989G>A	16.37:g.69148496G>A	ENSP00000304440:p.Arg330Gln					HAS3_uc002ewk.2_Intron|HAS3_uc002ewl.2_Missense_Mutation_p.R330Q	p.R330Q	NM_005329	NP_005320	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1213	+		Ovarian(137;0.101)	330			Cytoplasmic (Potential).		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.989G>A	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977595	0.34848	.	.	ENSG00000103044	ENST00000306560	T	0.62232	0.04	6.07	2.63	0.31362	.	0.165142	0.52532	N	0.000068	T	0.63686	0.2532	M	0.86028	2.79	0.28693	N	0.904517	B	0.09022	0.002	B	0.06405	0.002	T	0.61113	-0.7128	10	0.40728	T	0.16	-12.7238	12.0982	0.53767	0.2252:0.0:0.7748:0.0	.	330	O00219	HAS3_HUMAN	Q	330	ENSP00000304440:R330Q	ENSP00000304440:R330Q	R	+	2	0	HAS3	67705997	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.742000	0.38248	0.894000	0.36317	0.655000	0.94253	CGA		0.582	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		16	40	0	0	0	0	16	40				
COG4	25839	broad.mit.edu	37	16	70553601	70553601	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:70553601C>G	ENST00000323786.5	-	2	226	c.205G>C	c.(205-207)Gaa>Caa	p.E69Q	COG4_ENST00000393612.4_Missense_Mutation_p.E65Q|COG4_ENST00000564653.1_Missense_Mutation_p.E69Q	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	65	Interacts with SCFD1.				Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TTTTGCTGTTCCAAAAGAGCA	0.433																																						uc002ezc.2		NA																	0					0						c.(205-207)GAA>CAA		component of oligomeric golgi complex 4							135.0	113.0	121.0					16																	70553601		2198	4300	6498	SO:0001583	missense	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.chr16:70553601C>G	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.205G>C	16.37:g.70553601C>G	ENSP00000315775:p.Glu69Gln					COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.E69Q|COG4_uc002eze.2_Intron	p.E69Q	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			2	216	-		Ovarian(137;0.0694)	65			Interacts with SCFD1.		B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	c.205G>C	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	C	33	5.270060	0.95429	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612	T;T	0.46819	0.86;0.86	5.81	5.81	0.92471	.	0.047938	0.85682	D	0.000000	T	0.38374	0.1038	N	0.19112	0.55	0.49299	D	0.999777	B;P	0.37176	0.059;0.586	B;B	0.37387	0.034;0.248	T	0.11941	-1.0567	10	0.30854	T	0.27	-14.4768	20.0734	0.97734	0.0:1.0:0.0:0.0	.	64;65	Q6PIW8;Q9H9E3	.;COG4_HUMAN	Q	69;65;65	ENSP00000315775:E69Q;ENSP00000377236:E65Q	ENSP00000315775:E69Q	E	-	1	0	COG4	69111102	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.688000	0.68227	2.751000	0.94390	0.555000	0.69702	GAA		0.433	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			4	24	0	0	0	0	4	24				
ZCCHC14	23174	broad.mit.edu	37	16	87451158	87451158	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:87451158G>C	ENST00000268616.4	-	8	1097	c.880C>G	c.(880-882)Cag>Gag	p.Q294E		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	294							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TCCTGGGTCTGAGGGGTCTGC	0.572																																						uc002fjz.1		NA																	0				upper_aerodigestive_tract(1)|breast(1)	2						c.(880-882)CAG>GAG		zinc finger, CCHC domain containing 14							165.0	181.0	176.0					16																	87451158		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87451158G>C	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.880C>G	16.37:g.87451158G>C	ENSP00000268616:p.Gln294Glu					ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.Q70E	p.Q294E	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	907	-			294					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.880C>G	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723705	0.89298	.	.	ENSG00000140948	ENST00000268616	T	0.18657	2.2	6.07	6.07	0.98685	Sterile alpha motif/pointed domain (2);	0.241661	0.43110	D	0.000617	T	0.33789	0.0875	N	0.22421	0.69	0.45899	D	0.998747	P;D	0.64830	0.874;0.994	P;P	0.61592	0.546;0.891	T	0.03784	-1.1004	10	0.72032	D	0.01	-17.9767	20.6439	0.99570	0.0:0.0:1.0:0.0	.	294;294	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	E	294	ENSP00000268616:Q294E	ENSP00000268616:Q294E	Q	-	1	0	ZCCHC14	86008659	1.000000	0.71417	0.993000	0.49108	0.790000	0.44656	5.645000	0.67909	2.884000	0.98904	0.655000	0.94253	CAG		0.572	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		46	132	0	0	0	0	46	132				
CPNE7	27132	broad.mit.edu	37	16	89655212	89655212	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:89655212G>A	ENST00000268720.5	+	12	1412	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	CPNE7_ENST00000319518.8_Missense_Mutation_p.D353N	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	428	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CCAGGACTATGACAGGTGCGC	0.642																																						uc002fnp.2		NA																	0					0						c.(1282-1284)GAC>AAC		copine 7 isoform b							138.0	103.0	115.0					16																	89655212		2197	4300	6497	SO:0001583	missense	27132				lipid metabolic process		transporter activity	g.chr16:89655212G>A	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1282G>A	16.37:g.89655212G>A	ENSP00000268720:p.Asp428Asn					CPNE7_uc002fnq.2_Missense_Mutation_p.D353N	p.D428N	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	12	1412	+		all_hematologic(23;0.0748)	428			VWFA.			Missense_Mutation	SNP	ENST00000268720.5	37	c.1282G>A	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604415	0.66445	.	.	ENSG00000178773	ENST00000319518;ENST00000268720;ENST00000529800	T;T;T	0.27720	1.65;1.65;1.65	3.97	3.97	0.46021	von Willebrand factor, type A (2);Copine (1);	0.054269	0.64402	D	0.000001	T	0.62853	0.2462	M	0.90145	3.09	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.986	T	0.74118	-0.3768	10	0.87932	D	0	0.0416	15.9669	0.79979	0.0:0.0:1.0:0.0	.	353;428	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	N	353;428;73	ENSP00000317374:D353N;ENSP00000268720:D428N;ENSP00000435876:D73N	ENSP00000268720:D428N	D	+	1	0	CPNE7	88182713	1.000000	0.71417	0.992000	0.48379	0.645000	0.38454	7.268000	0.78473	1.890000	0.54733	0.313000	0.20887	GAC		0.642	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			13	26	0	0	0	0	13	26				
VPS53	55275	broad.mit.edu	37	17	455171	455171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:455171G>A	ENST00000571805.1	-	17	1943	c.1807C>T	c.(1807-1809)Cag>Tag	p.Q603*	VPS53_ENST00000401468.3_Nonsense_Mutation_p.Q326*|VPS53_ENST00000446250.2_Nonsense_Mutation_p.Q405*|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Nonsense_Mutation_p.Q574*|RP5-1029F21.2_ENST00000574008.1_RNA|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000437048.2_Nonsense_Mutation_p.Q603*			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	603					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		ACCAGCAGCTGAATACTGCTG	0.502																																						uc002frn.2		NA																	0					0						c.(1807-1809)CAG>TAG		vacuolar protein sorting 53 isoform 2							84.0	60.0	68.0					17																	455171		2203	4299	6502	SO:0001587	stop_gained	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:455171G>A		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1807C>T	17.37:g.455171G>A	ENSP00000459312:p.Gln603*					VPS53_uc002frk.2_Nonsense_Mutation_p.Q122*|VPS53_uc010cjo.1_Nonsense_Mutation_p.Q603*|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Nonsense_Mutation_p.Q574*|VPS53_uc002fro.2_Nonsense_Mutation_p.Q405*|VPS53_uc010cjp.1_Nonsense_Mutation_p.Q326*	p.Q603*	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	17	1954	-			603					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Nonsense_Mutation	SNP	ENST00000571805.1	37	c.1807C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.792945|12.792945	0.99696|0.99696	.|.	.|.	ENSG00000141252|ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468|ENST00000389040	.|T	.|0.31247	.|1.5	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.060076|.	0.64402|.	D|.	0.000001|.	.|T	.|0.53465	.|0.1798	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50259	.|-0.8849	.|5	0.72032|0.52906	D|T	0.01|0.07	-19.4925|-19.4925	18.9992|18.9992	0.92826|0.92826	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	603;405;574;326|537	.|ENSP00000373692:S537L	ENSP00000291074:Q574X|ENSP00000373692:S537L	Q|S	-|-	1|2	0|0	VPS53|VPS53	401921|401921	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.978000|0.978000	0.69477|0.69477	9.420000|9.420000	0.97426|0.97426	2.795000|2.795000	0.96236|0.96236	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.502	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		5	9	0	0	0	0	5	9				
GEMIN4	50628	broad.mit.edu	37	17	649539	649539	+	Missense_Mutation	SNP	G	G	C	rs372394762		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:649539G>C	ENST00000319004.5	-	2	1862	c.1744C>G	c.(1744-1746)Ctc>Gtc	p.L582V	GEMIN4_ENST00000576778.1_Missense_Mutation_p.L571V	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	582					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AAGGCAGTGAGAATCTGGGCC	0.547																																						uc002frs.1		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1744-1746)CTC>GTC		gemin 4		G	VAL/LEU	4,4008		0,4,2002	78.0	85.0	83.0		1744	4.6	1.0	17		83	0,8370		0,0,4185	no	missense	GEMIN4	NM_015721.2	32	0,4,6187	CC,CG,GG		0.0,0.0997,0.0323	probably-damaging	582/1059	649539	4,12378	2006	4185	6191	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:649539G>C	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1744C>G	17.37:g.649539G>C	ENSP00000321706:p.Leu582Val						p.L582V	NM_015721	NP_056536	P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	2	1863	-		Myeloproliferative disorder(207;0.204)	582					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.1744C>G	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372999	0.61624	9.97E-4	0.0	ENSG00000179409	ENST00000319004	T	0.17370	2.28	5.57	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.37183	0.0994	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.07481	-1.0770	10	0.87932	D	0	-17.9894	10.2945	0.43616	0.1504:0.0:0.8496:0.0	.	582	P57678	GEMI4_HUMAN	V	582	ENSP00000321706:L582V	ENSP00000321706:L582V	L	-	1	0	GEMIN4	596289	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.575000	0.60908	2.630000	0.89119	0.591000	0.81541	CTC		0.547	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		16	41	0	0	0	0	16	41				
OR1A1	8383	broad.mit.edu	37	17	3119610	3119610	+	Silent	SNP	C	C	T	rs372852176	byFrequency	TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:3119610C>T	ENST00000304094.1	+	1	696	c.696C>T	c.(694-696)ggC>ggT	p.G232G		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CCACCAAGGGCGTGCTCAAGG	0.483													C|||	8	0.00159744	0.0	0.0	5008	,	,		22642	0.0		0.0	False		,,,				2504	0.0082					uc010vrc.1		NA																	0				ovary(1)|skin(1)	2						c.(694-696)GGC>GGT		olfactory receptor, family 1, subfamily A,		C		0,4406		0,0,2203	215.0	188.0	197.0		696	-5.3	0.1	17		197	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR1A1	NM_014565.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		232/310	3119610	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3119610C>T	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.696C>T	17.37:g.3119610C>T							p.G232G	NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN			1	696	+			232			Cytoplasmic (Potential).		A5D914|Q6IFM1|Q6NTA9|Q96R87	Silent	SNP	ENST00000304094.1	37	c.696C>T	CCDS11022.1																																																																																				0.483	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		35	108	0	0	0	0	35	108				
YBX2	51087	broad.mit.edu	37	17	7192869	7192869	+	Missense_Mutation	SNP	G	G	A	rs533432910|rs200432202	byFrequency	TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:7192869G>A	ENST00000007699.5	-	7	1087	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	342	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GCGGGCTGCCGGGGGCCAGGG	0.667																																						uc002gfq.2		NA																	0					0						c.(1024-1026)CGG>TGG		Y box binding protein 2							7.0	9.0	9.0					17																	7192869		2136	4176	6312	SO:0001583	missense	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7192869G>A	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.1024C>T	17.37:g.7192869G>A	ENSP00000007699:p.Arg342Trp						p.R342W	NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN			7	1081	-			342			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	c.1024C>T	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	G	9.829	1.187958	0.21954	.	.	ENSG00000006047	ENST00000007699	T	0.24723	1.84	.	.	.	.	1.681570	0.04523	U	0.384935	T	0.13756	0.0333	N	0.08118	0	0.30932	N	0.726843	B	0.12013	0.005	B	0.04013	0.001	T	0.32428	-0.9907	8	0.87932	D	0	-4.9187	.	.	.	.	342	Q9Y2T7	YBOX2_HUMAN	W	342	ENSP00000007699:R342W	ENSP00000007699:R342W	R	-	1	2	YBX2	7133593	0.978000	0.34361	0.955000	0.39395	0.904000	0.53231	0.064000	0.14437	0.064000	0.16427	0.064000	0.15345	CGG		0.667	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		6	11	0	0	0	0	6	11				
NEURL4	84461	broad.mit.edu	37	17	7228995	7228995	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:7228995G>C	ENST00000399464.2	-	7	1346	c.1331C>G	c.(1330-1332)tCt>tGt	p.S444C	NEURL4_ENST00000570460.1_Missense_Mutation_p.S422C|NEURL4_ENST00000315614.7_Missense_Mutation_p.S444C	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	444	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGTAGGGCAGAGTTGGACTT	0.567																																						uc002gga.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1330-1332)TCT>TGT		neuralized homolog 4 isoform 1							121.0	124.0	123.0					17																	7228995		1923	4121	6044	SO:0001583	missense	84461						protein binding	g.chr17:7228995G>C		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1331C>G	17.37:g.7228995G>C	ENSP00000382390:p.Ser444Cys					NEURL4_uc002ggb.1_Missense_Mutation_p.S444C|NEURL4_uc002ggc.1_5'UTR	p.S444C	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			7	1338	-			444			NHR 2.		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.1331C>G	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498108	0.85069	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.33654	1.4;1.4	5.2	5.2	0.72013	NEUZ (1);	0.134589	0.47455	D	0.000223	T	0.39200	0.1069	N	0.14661	0.345	0.39420	D	0.966908	D;D	0.62365	0.99;0.991	D;P	0.63703	0.917;0.784	T	0.39099	-0.9630	10	0.72032	D	0.01	-15.6611	11.8865	0.52604	0.0:0.1753:0.8246:0.0	.	444;444	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	C	444	ENSP00000319826:S444C;ENSP00000382390:S444C	ENSP00000319826:S444C	S	-	2	0	NEURL4	7169719	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.354000	0.59417	2.722000	0.93159	0.655000	0.94253	TCT		0.567	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		25	86	0	0	0	0	25	86				
FXR2	9513	broad.mit.edu	37	17	7496331	7496331	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:7496331G>A	ENST00000250113.7	-	13	1833	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L	SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000538513.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	500						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ATTGTATCTCGAAGTGGGCCG	0.617																																						uc002gia.1		NA																	0					0						c.(1498-1500)TCG>TTG		fragile X mental retardation syndrome related							32.0	35.0	34.0					17																	7496331		1834	4076	5910	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496331G>A	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1499C>T	17.37:g.7496331G>A	ENSP00000250113:p.Ser500Leu					SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	p.S500L	NM_004860	NP_004851	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	13	1726	-			500					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.1499C>T	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742899	0.30865	.	.	ENSG00000129245	ENST00000250113	T	0.29655	1.56	5.63	3.53	0.40419	.	0.852251	0.10465	N	0.671508	T	0.19446	0.0467	N	0.14661	0.345	0.09310	N	1	B	0.22414	0.069	B	0.13407	0.009	T	0.13899	-1.0492	10	0.49607	T	0.09	5.7236	10.3258	0.43792	0.0786:0.136:0.7853:0.0	.	500	P51116	FXR2_HUMAN	L	500	ENSP00000250113:S500L	ENSP00000250113:S500L	S	-	2	0	FXR2	7437056	0.991000	0.36638	0.677000	0.29947	0.659000	0.38960	2.881000	0.48538	1.517000	0.48917	0.655000	0.94253	TCG		0.617	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			10	44	0	0	0	0	10	44				
KDM6B	23135	broad.mit.edu	37	17	7752247	7752247	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:7752247G>A	ENST00000448097.2	+	11	2972	c.2641G>A	c.(2641-2643)Gag>Aag	p.E881K	KDM6B_ENST00000254846.5_Missense_Mutation_p.E881K			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	881	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGGGCCCGGGAGCGCAGGGC	0.716																																						uc002giw.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(2641-2643)GAG>AAG		lysine (K)-specific demethylase 6B							8.0	11.0	10.0					17																	7752247		1901	3942	5843	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752247G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2641G>A	17.37:g.7752247G>A	ENSP00000412513:p.Glu881Lys					KDM6B_uc002gix.2_Missense_Mutation_p.E183K	p.E881K	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			11	3017	+			881			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2641G>A		.	.	.	.	.	.	.	.	.	.	G	9.599	1.128156	0.20959	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.76839	-1.05;-1.05	4.47	3.47	0.39725	.	0.587930	0.17414	N	0.175078	T	0.56381	0.1981	N	0.14661	0.345	0.21719	N	0.999573	B;B	0.12630	0.0;0.006	B;B	0.10450	0.001;0.005	T	0.36601	-0.9741	10	0.11794	T	0.64	-11.6706	7.4796	0.27398	0.0919:0.1712:0.7369:0.0	.	881;881	O15054;O15054-1	KDM6B_HUMAN;.	K	881	ENSP00000254846:E881K;ENSP00000412513:E881K	ENSP00000254846:E881K	E	+	1	0	KDM6B	7692972	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	3.634000	0.54302	1.202000	0.43218	0.462000	0.41574	GAG		0.716	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		4	11	0	0	0	0	4	11				
KDM6B	23135	broad.mit.edu	37	17	7753196	7753196	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:7753196G>A	ENST00000448097.2	+	12	3829	c.3498G>A	c.(3496-3498)gtG>gtA	p.V1166V	KDM6B_ENST00000254846.5_Silent_p.V1166V			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1166					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.V1166V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCAGTCTGTGAAACCGAAGA	0.532																																						uc002giw.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(3496-3498)GTG>GTA		lysine (K)-specific demethylase 6B							147.0	157.0	154.0					17																	7753196		2203	4300	6503	SO:0001819	synonymous_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7753196G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3498G>A	17.37:g.7753196G>A						KDM6B_uc002gix.2_Silent_p.V468V	p.V1166V	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			12	3874	+			1166					C9IZ40|Q96G33	Silent	SNP	ENST00000448097.2	37	c.3498G>A																																																																																					0.532	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		40	120	0	0	0	0	40	120				
NCOR1	9611	broad.mit.edu	37	17	15942786	15942786	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:15942786C>T	ENST00000268712.3	-	44	7173	c.6916G>A	c.(6916-6918)Gag>Aag	p.E2306K	NCOR1_ENST00000395857.3_Missense_Mutation_p.E890K|AC002553.1_ENST00000442828.1_5'Flank|NCOR1_ENST00000395851.1_Missense_Mutation_p.E2203K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2306	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTCGTGTCTCACCACTGGTC	0.483																																						uc002gpo.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(6916-6918)GAG>AAG		nuclear receptor co-repressor 1							158.0	110.0	127.0					17																	15942786		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15942786C>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6916G>A	17.37:g.15942786C>T	ENSP00000268712:p.Glu2306Lys					NCOR1_uc002gpn.2_Missense_Mutation_p.E2203K|NCOR1_uc002gpl.2_Missense_Mutation_p.E321K|NCOR1_uc002gpm.2_Missense_Mutation_p.E826K|NCOR1_uc010vwb.1_Missense_Mutation_p.E890K|NCOR1_uc010coy.2_Missense_Mutation_p.E1214K	p.E2306K	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	44	7156	-			2306			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.6916G>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734412	0.89482	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.47528	0.84;1.41;0.84	5.61	5.61	0.85477	.	0.260617	0.43747	D	0.000533	T	0.66934	0.2840	M	0.66939	2.045	0.58432	D	0.999997	D;D;D;P;P	0.76494	0.985;0.988;0.999;0.604;0.911	P;P;D;B;P	0.64237	0.585;0.696;0.923;0.108;0.547	T	0.69243	-0.5196	10	0.87932	D	0	-10.6523	18.6301	0.91357	0.0:1.0:0.0:0.0	.	2210;2306;2203;826;320	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	K	2306;2203;2210;890	ENSP00000268712:E2306K;ENSP00000379192:E2203K;ENSP00000379198:E890K	ENSP00000268712:E2306K	E	-	1	0	NCOR1	15883511	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	6.821000	0.75272	2.640000	0.89533	0.655000	0.94253	GAG		0.483	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		7	36	0	0	0	0	7	36				
NCOR1	9611	broad.mit.edu	37	17	16029434	16029434	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:16029434C>G	ENST00000268712.3	-	15	1853	c.1596G>C	c.(1594-1596)aaG>aaC	p.K532N	NCOR1_ENST00000395851.1_Missense_Mutation_p.K532N|NCOR1_ENST00000395848.1_Missense_Mutation_p.K423N	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	532					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		cttcatctttcttttcttctt	0.264																																						uc002gpo.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(1594-1596)AAG>AAC		nuclear receptor co-repressor 1							18.0	18.0	18.0					17																	16029434		2185	4262	6447	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16029434C>G	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1596G>C	17.37:g.16029434C>G	ENSP00000268712:p.Lys532Asn					NCOR1_uc002gpn.2_Missense_Mutation_p.K532N|NCOR1_uc002gpp.1_Missense_Mutation_p.K423N|NCOR1_uc002gpr.2_Missense_Mutation_p.K423N|NCOR1_uc002gps.1_Missense_Mutation_p.K541N|NCOR1_uc010coz.1_Missense_Mutation_p.K348N|NCOR1_uc010cpb.1_Missense_Mutation_p.K542N|NCOR1_uc010cpa.1_Missense_Mutation_p.K533N	p.K532N	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	15	1836	-			532			Potential.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.1596G>C	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	c	9.978	1.227248	0.22542	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.88	2.7	0.31948	.	0.301359	0.39909	N	0.001221	T	0.33702	0.0872	N	0.19112	0.55	0.80722	D	1	P;P;P;B;B;D	0.61080	0.947;0.947;0.947;0.049;0.02;0.989	D;D;D;B;B;D	0.72625	0.95;0.95;0.95;0.016;0.006;0.978	T	0.04320	-1.0960	10	0.33141	T	0.24	-7.9324	8.6146	0.33824	0.0:0.7862:0.0:0.2138	.	541;533;533;423;532;532	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	N	532;532;423;541;423;533	ENSP00000268712:K532N;ENSP00000379192:K532N;ENSP00000379189:K423N;ENSP00000407998:K533N	ENSP00000268712:K532N	K	-	3	2	NCOR1	15970159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.961000	0.40432	1.050000	0.40346	0.552000	0.68991	AAG		0.264	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		3	7	0	0	0	0	3	7				
SREBF1	6720	broad.mit.edu	37	17	17719301	17719301	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:17719301C>G	ENST00000261646.5	-	12	2440	c.2256G>C	c.(2254-2256)caG>caC	p.Q752H	SREBF1_ENST00000338854.5_Missense_Mutation_p.Q752H|SREBF1_ENST00000355815.4_Missense_Mutation_p.Q782H|SREBF1_ENST00000395757.1_Missense_Mutation_p.Q498H|MIR33B_ENST00000385104.1_RNA	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	752					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTGAGCCACTCTGTGCCAGGC	0.667																																						uc002gru.1		NA																	0				skin(1)	1						c.(2254-2256)CAG>CAC		sterol regulatory element binding transcription							50.0	50.0	50.0					17																	17719301		2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17719301C>G	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2256G>C	17.37:g.17719301C>G	ENSP00000261646:p.Gln752His					SREBF1_uc002grp.1_Missense_Mutation_p.Q371H|SREBF1_uc002grq.1_Missense_Mutation_p.Q271H|SREBF1_uc002grr.1_Missense_Mutation_p.Q498H|SREBF1_uc002grs.1_Missense_Mutation_p.Q728H|SREBF1_uc002grt.1_Missense_Mutation_p.Q782H|MIR33B_hsa-mir-33b|MI0003646_5'Flank	p.Q752H	NM_004176	NP_004167	P36956	SRBP1_HUMAN			12	2450	-			752			Cytoplasmic (Potential).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.2256G>C	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.81|11.81	1.749608|1.749608	0.30955|0.30955	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161;ENST00000447641	.|T;T;T;T	.|0.09538	.|2.97;2.97;2.97;2.97	5.2|5.2	4.22|4.22	0.49857|0.49857	.|.	.|0.345545	.|0.28442	.|N	.|0.015323	T|T	0.07503|0.07503	0.0189|0.0189	N|N	0.15975|0.15975	0.35|0.35	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.29188	.|0.04;0.236;0.012	.|B;B;B	.|0.27262	.|0.035;0.078;0.021	T|T	0.33599|0.33599	-0.9862|-0.9862	5|10	.|0.31617	.|T	.|0.26	-17.6741|-17.6741	15.0055|15.0055	0.71510|0.71510	0.0:0.6668:0.3332:0.0|0.0:0.6668:0.3332:0.0	.|.	.|752;782;371	.|P36956;P36956-4;A8MTU8	.|SRBP1_HUMAN;.;.	Q|H	760|752;782;752;498;371;589;678;77	.|ENSP00000345822:Q752H;ENSP00000348069:Q782H;ENSP00000261646:Q752H;ENSP00000379106:Q498H	.|ENSP00000261646:Q752H	E|Q	-|-	1|3	0|2	SREBF1|SREBF1	17660026|17660026	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	0.247000|0.247000	0.18179|0.18179	1.311000|1.311000	0.45024|0.45024	0.561000|0.561000	0.74099|0.74099	GAG|CAG		0.667	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		5	43	0	0	0	0	5	43				
SMCR8	140775	broad.mit.edu	37	17	18220060	18220060	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:18220060G>A	ENST00000406438.3	+	1	1437	c.957G>A	c.(955-957)ttG>ttA	p.L319L	TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	319						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ACAAGAAGTTGAAGACCTTGG	0.493																																						uc002gsy.3		NA																	0				central_nervous_system(1)	1						c.(955-957)TTG>TTA		Smith-Magenis syndrome chromosome region,							79.0	78.0	78.0					17																	18220060		2203	4300	6503	SO:0001819	synonymous_variant	140775							g.chr17:18220060G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.957G>A	17.37:g.18220060G>A							p.L319L	NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN			1	1467	+			319					A5PKZ5|Q3ZCN0|Q6PJL3	Silent	SNP	ENST00000406438.3	37	c.957G>A	CCDS11195.2																																																																																				0.493	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		18	55	0	0	0	0	18	55				
NOS2	4843	broad.mit.edu	37	17	26114730	26114730	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:26114730G>A	ENST00000313735.6	-	5	674	c.441C>T	c.(439-441)gtC>gtT	p.V147V		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	147					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	AATATTGGTTGACAAATTCGA	0.537																																						uc002gzu.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(439-441)GTC>GTT		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						133.0	138.0	136.0					17																	26114730		2203	4300	6503	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26114730G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.441C>T	17.37:g.26114730G>A						NOS2_uc010crh.1_Silent_p.V147V|NOS2_uc010wab.1_Silent_p.V147V	p.V147V	NM_000625	NP_000616	P35228	NOS2_HUMAN			5	705	-			147					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.441C>T	CCDS11223.1																																																																																				0.537	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		23	82	0	0	0	0	23	82				
KIAA0100	9703	broad.mit.edu	37	17	26940613	26940613	+	IGR	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:26940613C>T	ENST00000528896.2	-	0	7407				SPAG5-AS1_ENST00000424210.1_RNA|SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000577790.1_Missense_Mutation_p.E56K|RP11-192H23.4_ENST00000534850.1_Missense_Mutation_p.E57K|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000301037.5_Missense_Mutation_p.E57K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCCCGTAGTTCCCAGAGTTCT	0.582											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hbr.1		NA																	0					0						c.(169-171)GAA>AAA		uncharacterized serine/threonine-protein kinase							81.0	87.0	85.0					17																	26940613		2203	4300	6503	SO:0001628	intergenic_variant	124923							g.chr17:26940613C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26940613C>T			OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	SGK494_uc010waq.1_Missense_Mutation_p.E57K|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_Intron	p.E57K	NM_144610	NP_653211					2	201	-								A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.169G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	9.857	1.195322	0.22037	.	.	ENSG00000258472;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524	ENST00000531839;ENST00000378976;ENST00000481916;ENST00000301037;ENST00000534850;ENST00000530121	T;T	0.68025	-0.3;1.56	5.0	-0.864	0.10666	.	0.565624	0.17004	N	0.190786	T	0.33904	0.0879	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.13150	-1.0520	10	0.11794	T	0.64	-0.1346	2.9124	0.05742	0.128:0.4579:0.2513:0.1628	.	57;57	E9PMD0;Q96LW2	.;SG494_HUMAN	K	57	ENSP00000301037:E57K;ENSP00000434603:E57K	ENSP00000301037:E57K	E	-	1	0	AC005726.6;RP11-192H23.4	23964740	0.048000	0.20356	0.614000	0.29051	0.905000	0.53344	0.188000	0.17018	0.238000	0.21222	-0.137000	0.14449	GAA		0.582	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		8	81	0	0	0	0	8	81				
NSRP1	84081	broad.mit.edu	37	17	28506198	28506198	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:28506198G>C	ENST00000247026.5	+	5	454	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	131	Necessary for alternative splicing activity.				developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GAGAGAACGAGAAATGGAAAA	0.353																																						uc002heu.2		NA																	0					0						c.(391-393)GAA>CAA		coiled-coil domain containing 55 isoform 1							36.0	36.0	36.0					17																	28506198		2203	4300	6503	SO:0001583	missense	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28506198G>C	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.391G>C	17.37:g.28506198G>C	ENSP00000247026:p.Glu131Gln					CCDC55_uc002hev.2_Missense_Mutation_p.E77Q|CCDC55_uc010wbl.1_Missense_Mutation_p.E77Q|CCDC55_uc010wbm.1_Missense_Mutation_p.E77Q|CCDC55_uc002hex.2_Missense_Mutation_p.E77Q	p.E131Q	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN			5	419	+			131			Necessary for alternative splicing activity.|Potential.		Q6FI71	Missense_Mutation	SNP	ENST00000247026.5	37	c.391G>C	CCDS11255.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872500	0.91587	.	.	ENSG00000126653	ENST00000247026;ENST00000540900;ENST00000394826	T	0.51071	0.72	5.29	5.29	0.74685	Domain of unknown function DUF2040 (1);	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74293	-0.3712	10	0.66056	D	0.02	-16.6048	17.9478	0.89044	0.0:0.0:1.0:0.0	.	131	Q9H0G5	NSRP1_HUMAN	Q	131;62;77	ENSP00000247026:E131Q	ENSP00000247026:E131Q	E	+	1	0	NSRP1	25530324	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.724000	0.91462	2.468000	0.83385	0.591000	0.81541	GAA		0.353	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		5	19	0	0	0	0	5	19				
GGNBP2	79893	broad.mit.edu	37	17	34937844	34937844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:34937844G>A	ENST00000304718.4	+	9	1407	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	364					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.R364L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GAAGAGGAACGAGTAAGAGAA	0.368																																						uc002hnb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1090-1092)CGA>CAA		zinc finger protein 403							118.0	114.0	115.0					17																	34937844		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34937844G>A	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1091G>A	17.37:g.34937844G>A	ENSP00000307617:p.Arg364Gln					GGNBP2_uc002hna.2_Missense_Mutation_p.R364Q|GGNBP2_uc002hnc.1_Missense_Mutation_p.R193Q	p.R364Q	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	9	1340	+		Breast(25;0.00957)|Ovarian(249;0.17)	364					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.1091G>A	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284020	0.59867	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.48	4.52	0.55395	.	0.056880	0.64402	D	0.000002	T	0.44117	0.1278	L	0.27053	0.805	0.80722	D	1	D;D;P	0.56746	0.977;0.977;0.953	P;P;B	0.49140	0.601;0.525;0.275	T	0.24333	-1.0163	9	0.27785	T	0.31	-5.5206	9.9408	0.41578	0.0721:0.1398:0.788:0.0	.	364;364;364	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	Q	364	.	ENSP00000307617:R364Q	R	+	2	0	GGNBP2	32011957	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	6.015000	0.70791	1.323000	0.45263	-0.334000	0.08254	CGA		0.368	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		29	60	0	0	0	0	29	60				
CDC6	990	broad.mit.edu	37	17	38450695	38450695	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:38450695G>C	ENST00000209728.4	+	7	1494	c.1023G>C	c.(1021-1023)ttG>ttC	p.L341F		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	341					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CACAGCTGTTGAACTTCCCAC	0.398																																						uc002huj.1		NA																	0				ovary(2)|breast(1)	3						c.(1021-1023)TTG>TTC		cell division cycle 6 protein							136.0	125.0	129.0					17																	38450695		2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38450695G>C	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1023G>C	17.37:g.38450695G>C	ENSP00000209728:p.Leu341Phe						p.L341F	NM_001254	NP_001245	Q99741	CDC6_HUMAN			7	1233	+			341					Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.1023G>C	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933888	0.73442	.	.	ENSG00000094804	ENST00000209728	T	0.57595	0.39	5.98	5.01	0.66863	.	0.064498	0.64402	D	0.000011	T	0.69242	0.3089	M	0.87682	2.9	0.45733	D	0.99863	D	0.58620	0.983	P	0.61800	0.894	T	0.73206	-0.4056	10	0.87932	D	0	-0.502	5.9217	0.19086	0.1553:0.0:0.6893:0.1554	.	341	Q99741	CDC6_HUMAN	F	341	ENSP00000209728:L341F	ENSP00000209728:L341F	L	+	3	2	CDC6	35704221	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	0.834000	0.27518	1.543000	0.49345	0.591000	0.81541	TTG		0.398	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			20	70	0	0	0	0	20	70				
KRT10	3858	broad.mit.edu	37	17	38978336	38978336	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:38978336C>A	ENST00000269576.5	-	1	511	c.502G>T	c.(502-504)Gaa>Taa	p.E168*	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	168	Coil 1A.|Gly-rich.|Rod.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TTTGATTCTTCCAGAGCCCGA	0.463																																						uc002hvi.2		NA																	0					0						c.(502-504)GAA>TAA		keratin 10							161.0	146.0	151.0					17																	38978336		2203	4300	6503	SO:0001587	stop_gained	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38978336C>A	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.502G>T	17.37:g.38978336C>A	ENSP00000269576:p.Glu168*					KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	p.E168*	NM_000421	NP_000412	P13645	K1C10_HUMAN			1	528	-		Breast(137;0.000301)	168			Coil 1A.|Rod.|Gly-rich.		Q14664|Q8N175	Nonsense_Mutation	SNP	ENST00000269576.5	37	c.502G>T	CCDS11377.1	.	.	.	.	.	.	.	.	.	.	C	36	5.871855	0.97049	.	.	ENSG00000186395	ENST00000269576	.	.	.	4.96	4.96	0.65561	.	0.000000	0.37393	N	0.002113	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5446	0.91042	0.0:1.0:0.0:0.0	.	.	.	.	X	168	.	ENSP00000269576:E168X	E	-	1	0	KRT10	36231862	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.760000	0.85248	2.453000	0.82957	0.603000	0.83216	GAA		0.463	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		32	109	1	0	1.56e-20	1.7e-20	32	109				
FKBP10	60681	broad.mit.edu	37	17	39975508	39975508	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:39975508G>C	ENST00000321562.4	+	5	878	c.774G>C	c.(772-774)ctG>ctC	p.L258L	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	258	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ACGTCCTCCTGATTGACGTGC	0.632																																						uc002hxv.2		NA																	0				ovary(1)	1						c.(772-774)CTG>CTC		FK506 binding protein 10 precursor							75.0	74.0	74.0					17																	39975508		2203	4300	6503	SO:0001819	synonymous_variant	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39975508G>C	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.774G>C	17.37:g.39975508G>C						FKBP10_uc002hxw.1_5'UTR	p.L258L	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	5	1099	+		Breast(137;0.00122)	258			PPIase FKBP-type 2.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Silent	SNP	ENST00000321562.4	37	c.774G>C	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	G	5.979	0.364664	0.11296	.	.	ENSG00000141756	ENST00000455106	.	.	.	5.55	0.979	0.19745	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.7163	8.0911	0.30801	0.0626:0.329:0.5039:0.1045	.	.	.	.	S	1	.	.	X	+	2	2	FKBP10	37229034	1.000000	0.71417	0.100000	0.21137	0.471000	0.32888	2.626000	0.46460	0.677000	0.31305	-0.311000	0.09066	TGA		0.632	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		27	73	0	0	0	0	27	73				
KCNH4	23415	broad.mit.edu	37	17	40318431	40318431	+	Missense_Mutation	SNP	G	G	A	rs140560707		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:40318431G>A	ENST00000264661.3	-	10	2056	c.1724C>T	c.(1723-1725)tCg>tTg	p.S575L	KCNH4_ENST00000607371.1_Missense_Mutation_p.S575L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	575					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGCGCAGAACGAGGTCTTGAT	0.622																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2		NA																	0				large_intestine(1)	1						c.(1723-1725)TCG>TTG		potassium voltage-gated channel, subfamily H,		G	LEU/SER	0,4406		0,0,2203	55.0	50.0	52.0		1724	4.1	0.9	17	dbSNP_134	52	4,8596	3.7+/-12.6	0,4,4296	yes	missense	KCNH4	NM_012285.2	145	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	575/1018	40318431	4,13002	2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40318431G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1724C>T	17.37:g.40318431G>A	ENSP00000264661:p.Ser575Leu						p.S575L	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2057	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	575			Cytoplasmic (Potential).|cNMP.			Missense_Mutation	SNP	ENST00000264661.3	37	c.1724C>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913565	0.92178	0.0	4.65E-4	ENSG00000089558	ENST00000264661	D	0.96300	-3.97	4.07	4.07	0.47477	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.34879	N	0.003609	D	0.97417	0.9155	M	0.62016	1.91	0.58432	D	0.999999	D	0.76494	0.999	D	0.69824	0.966	D	0.98204	1.0469	10	0.72032	D	0.01	.	16.427	0.83817	0.0:0.0:1.0:0.0	.	575	Q9UQ05	KCNH4_HUMAN	L	575	ENSP00000264661:S575L	ENSP00000264661:S575L	S	-	2	0	KCNH4	37571957	1.000000	0.71417	0.923000	0.36655	0.922000	0.55478	9.657000	0.98554	2.117000	0.64856	0.467000	0.42956	TCG		0.622	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		4	24	0	0	0	0	4	24				
KCNH4	23415	broad.mit.edu	37	17	40318439	40318439	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:40318439G>C	ENST00000264661.3	-	10	2048	c.1716C>G	c.(1714-1716)atC>atG	p.I572M	KCNH4_ENST00000607371.1_Missense_Mutation_p.I572M	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	572					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACGAGGTCTTGATGTGCAGCG	0.627																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2		NA																	0				large_intestine(1)	1						c.(1714-1716)ATC>ATG		potassium voltage-gated channel, subfamily H,							54.0	48.0	50.0					17																	40318439		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40318439G>C	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1716C>G	17.37:g.40318439G>C	ENSP00000264661:p.Ile572Met						p.I572M	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2049	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	572			Cytoplasmic (Potential).|cNMP.			Missense_Mutation	SNP	ENST00000264661.3	37	c.1716C>G	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893746	0.72639	.	.	ENSG00000089558	ENST00000264661	D	0.96396	-4.0	4.2	4.2	0.49525	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.40385	N	0.001112	D	0.97695	0.9244	M	0.72576	2.205	0.58432	D	0.999992	D	0.76494	0.999	D	0.76575	0.988	D	0.98563	1.0642	10	0.72032	D	0.01	.	16.7067	0.85374	0.0:0.0:1.0:0.0	.	572	Q9UQ05	KCNH4_HUMAN	M	572	ENSP00000264661:I572M	ENSP00000264661:I572M	I	-	3	3	KCNH4	37571965	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.600000	0.74132	2.182000	0.69389	0.563000	0.77884	ATC		0.627	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		5	21	0	0	0	0	5	21				
STAT5B	6777	broad.mit.edu	37	17	40362425	40362425	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:40362425C>T	ENST00000293328.3	-	14	1939	c.1771G>A	c.(1771-1773)Gat>Aat	p.D591N		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	591	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TCTCACCCATCATTCCAATGA	0.448																																						uc002hzh.2		NA																	0				ovary(3)|lung(2)|skin(1)	6						c.(1771-1773)GAT>AAT		signal transducer and activator of transcription	Dasatinib(DB01254)						118.0	113.0	115.0					17																	40362425		2203	4300	6503	SO:0001583	missense	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40362425C>T	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1771G>A	17.37:g.40362425C>T	ENSP00000293328:p.Asp591Asn						p.D591N	NM_012448	NP_036580	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	14	1940	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	591			SH2.		Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	c.1771G>A	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	C	37	6.070762	0.97256	.	.	ENSG00000173757	ENST00000293328	T	0.57436	0.4	5.53	5.53	0.82687	SH2 motif (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.73450	0.3588	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	D	0.68765	0.96	T	0.75187	-0.3406	10	0.87932	D	0	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	591	P51692	STA5B_HUMAN	N	591	ENSP00000293328:D591N	ENSP00000293328:D591N	D	-	1	0	STAT5B	37615951	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	7.563000	0.82314	2.882000	0.98803	0.655000	0.94253	GAT		0.448	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		19	87	0	0	0	0	19	87				
CNTNAP1	8506	broad.mit.edu	37	17	40843231	40843231	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:40843231C>G	ENST00000264638.4	+	14	2353	c.2136C>G	c.(2134-2136)atC>atG	p.I712M	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	712	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGCCTGGGATCCAGCGCTGTG	0.617																																						uc002iay.2		NA																	0				ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(2134-2136)ATC>ATG		contactin associated protein 1 precursor							95.0	98.0	97.0					17																	40843231		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843231C>G	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2136C>G	17.37:g.40843231C>G	ENSP00000264638:p.Ile712Met					CNTNAP1_uc010wgs.1_RNA	p.I712M	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	14	2352	+		Breast(137;0.000143)	712			Extracellular (Potential).|Fibrinogen C-terminal.			Missense_Mutation	SNP	ENST00000264638.4	37	c.2136C>G	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225390	0.58668	.	.	ENSG00000108797	ENST00000264638	T	0.16324	2.35	5.6	3.6	0.41247	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.000000	0.64402	D	0.000001	T	0.25232	0.0613	M	0.74647	2.275	0.31485	N	0.66671	P	0.42620	0.785	P	0.44597	0.454	T	0.21621	-1.0240	10	0.34782	T	0.22	.	12.2688	0.54693	0.0:0.8619:0.0:0.1381	.	712	P78357	CNTP1_HUMAN	M	712	ENSP00000264638:I712M	ENSP00000264638:I712M	I	+	3	3	CNTNAP1	38096757	0.990000	0.36364	1.000000	0.80357	0.995000	0.86356	0.344000	0.19962	0.737000	0.32582	0.561000	0.74099	ATC		0.617	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		13	95	0	0	0	0	13	95				
ADAM11	4185	broad.mit.edu	37	17	42855094	42855094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:42855094G>A	ENST00000200557.6	+	23	2102	c.1933G>A	c.(1933-1935)Gac>Aac	p.D645N	ADAM11_ENST00000535346.1_Missense_Mutation_p.D445N	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	645	Cys-rich.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GGACGGCTCTGACCTGAGCTA	0.642																																						uc002ihh.2		NA																	0				pancreas(1)	1						c.(1933-1935)GAC>AAC		ADAM metallopeptidase domain 11 preproprotein							50.0	50.0	50.0					17																	42855094		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42855094G>A	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1933G>A	17.37:g.42855094G>A	ENSP00000200557:p.Asp645Asn					ADAM11_uc010wjd.1_Missense_Mutation_p.D445N|ADAM11_uc002ihi.2_5'UTR	p.D645N	NM_002390	NP_002381	O75078	ADA11_HUMAN			23	1933	+		Prostate(33;0.0959)	645			Cys-rich.|Extracellular (Potential).		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.1933G>A	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251542	0.80135	.	.	ENSG00000073670	ENST00000200557;ENST00000535346	T;T	0.27256	1.68;1.68	4.89	4.89	0.63831	ADAM, cysteine-rich (1);	0.118436	0.56097	D	0.000031	T	0.51329	0.1668	M	0.81682	2.555	0.53688	D	0.999972	P;D	0.89917	0.681;1.0	P;D	0.87578	0.686;0.998	T	0.55140	-0.8187	10	0.59425	D	0.04	.	11.9964	0.53206	0.0:0.0:0.8266:0.1734	.	445;645	B4DKD2;O75078	.;ADA11_HUMAN	N	645;445	ENSP00000200557:D645N;ENSP00000443773:D445N	ENSP00000200557:D645N	D	+	1	0	ADAM11	40210620	1.000000	0.71417	0.963000	0.40424	0.930000	0.56654	7.743000	0.85020	2.256000	0.74724	0.561000	0.74099	GAC		0.642	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		9	31	0	0	0	0	9	31				
NMT1	4836	broad.mit.edu	37	17	43159088	43159088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:43159088G>A	ENST00000592782.1	+	3	339	c.208G>A	c.(208-210)Gag>Aag	p.E70K	NMT1_ENST00000258960.2_Missense_Mutation_p.E70K|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	70					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				aaaaGGCAGTGAGACAGATTC	0.383																																						uc002ihz.2		NA																	0					0						c.(208-210)GAG>AAG		N-myristoyltransferase 1							74.0	76.0	75.0					17																	43159088		2201	4294	6495	SO:0001583	missense	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43159088G>A		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.208G>A	17.37:g.43159088G>A	ENSP00000468424:p.Glu70Lys					NMT1_uc010dac.1_Intron|NMT1_uc002iia.2_RNA	p.E70K	NM_021079	NP_066565	P30419	NMT1_HUMAN			2	226	+		Prostate(33;0.155)	70					A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	c.208G>A	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	G	3.767	-0.048496	0.07407	.	.	ENSG00000136448	ENST00000258960;ENST00000543908	T;T	0.41400	1.0;1.04	5.38	5.38	0.77491	.	0.468943	0.23554	N	0.046929	T	0.19046	0.0457	N	0.04508	-0.205	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.10154	-1.0642	10	0.06494	T	0.89	-14.7477	12.5973	0.56476	0.0:0.2124:0.7876:0.0	.	70	P30419	NMT1_HUMAN	K	70	ENSP00000258960:E70K;ENSP00000439263:E70K	ENSP00000258960:E70K	E	+	1	0	NMT1	40514614	0.994000	0.37717	0.211000	0.23655	0.678000	0.39670	3.774000	0.55341	2.802000	0.96397	0.655000	0.94253	GAG		0.383	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		7	8	0	0	0	0	7	8				
NMT1	4836	broad.mit.edu	37	17	43159090	43159090	+	Silent	SNP	G	G	A	rs369434915		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:43159090G>A	ENST00000592782.1	+	3	341	c.210G>A	c.(208-210)gaG>gaA	p.E70E	NMT1_ENST00000258960.2_Silent_p.E70E|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	70					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				aaGGCAGTGAGACAGATTCAG	0.383																																						uc002ihz.2		NA																	0					0						c.(208-210)GAG>GAA		N-myristoyltransferase 1		G		0,4400		0,0,2200	75.0	77.0	76.0		210	0.8	0.1	17		76	1,8587		0,1,4293	no	coding-synonymous	NMT1	NM_021079.3		0,1,6493	AA,AG,GG		0.0116,0.0,0.0077		70/497	43159090	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43159090G>A		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.210G>A	17.37:g.43159090G>A						NMT1_uc010dac.1_Intron|NMT1_uc002iia.2_RNA	p.E70E	NM_021079	NP_066565	P30419	NMT1_HUMAN			2	228	+		Prostate(33;0.155)	70					A8K7C1|Q9UE09	Silent	SNP	ENST00000592782.1	37	c.210G>A	CCDS11494.1																																																																																				0.383	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		5	7	0	0	0	0	5	7				
MAP3K14	9020	broad.mit.edu	37	17	43364681	43364681	+	RNA	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:43364681C>A	ENST00000344686.2	-	0	484							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATTTTGCCCTCTGTAGCATGG	0.522																																						uc002iiw.1		NA																	0				central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						c.(376-378)GAG>TAG		mitogen-activated protein kinase kinase kinase							77.0	71.0	73.0					17																	43364681		2004	4161	6165			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43364681C>A	Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43364681C>A						MAP3K14_uc010daj.1_5'Flank|MAP3K14_uc002iiv.1_5'UTR	p.E126*	NM_003954	NP_003945	Q99558	M3K14_HUMAN			4	485	-			126					A8K2D8|D3DX67|Q8IYN1	Nonsense_Mutation	SNP	ENST00000344686.2	37	c.376G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.618421	0.96649	.	.	ENSG00000006062	ENST00000344686	.	.	.	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.2754	0.82642	0.0:1.0:0.0:0.0	.	.	.	.	X	126	.	ENSP00000342059:E126X	E	-	1	0	MAP3K14	40720464	0.998000	0.40836	0.940000	0.37924	0.513000	0.34164	4.770000	0.62309	2.511000	0.84671	0.563000	0.77884	GAG		0.522	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		NM_003954		7	31	1	0	0.000157383	0.000164885	7	31				
CALCOCO2	10241	broad.mit.edu	37	17	46926688	46926688	+	Silent	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:46926688C>A	ENST00000258947.3	+	5	593	c.492C>A	c.(490-492)atC>atA	p.I164I	CALCOCO2_ENST00000448105.2_Silent_p.I188I|CALCOCO2_ENST00000509507.1_Silent_p.I185I|CALCOCO2_ENST00000416445.2_Intron|CALCOCO2_ENST00000508679.1_Silent_p.I92I	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	164					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						ACAGCTGTATCAGCCTCCAGA	0.473																																						uc002iof.2		NA																	0				ovary(1)	1						c.(490-492)ATC>ATA		calcium binding and coiled-coil domain 2							132.0	132.0	132.0					17																	46926688		2203	4300	6503	SO:0001819	synonymous_variant	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46926688C>A	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.492C>A	17.37:g.46926688C>A						CALCOCO2_uc010wlp.1_Silent_p.I185I|CALCOCO2_uc010wlq.1_Silent_p.I92I|CALCOCO2_uc010wlr.1_Silent_p.I188I|CALCOCO2_uc010wls.1_Intron	p.I164I	NM_005831	NP_005822	Q13137	CACO2_HUMAN			5	571	+			164			Potential.		B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Silent	SNP	ENST00000258947.3	37	c.492C>A	CCDS11538.1																																																																																				0.473	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		32	72	1	0	2.68e-12	2.9e-12	32	72				
ZNF652	22834	broad.mit.edu	37	17	47388699	47388699	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:47388699G>A	ENST00000362063.2	-	5	1602	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	ZNF652_ENST00000430262.2_Silent_p.F428F	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TGTGTTCGTCGAAGTACTGCT	0.423																																						uc002iov.3		NA																	0				ovary(1)	1						c.(1282-1284)TTC>TTT		zinc finger protein 652							249.0	209.0	223.0					17																	47388699		2203	4300	6503	SO:0001819	synonymous_variant	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47388699G>A	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1284C>T	17.37:g.47388699G>A						ZNF652_uc002iow.2_Silent_p.F428F|ZNF652_uc002iou.3_RNA	p.F428F	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		5	1748	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		428			C2H2-type 7.		A4QPD9|Q5H9Q0	Silent	SNP	ENST00000362063.2	37	c.1284C>T	CCDS32677.1																																																																																				0.423	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		24	79	0	0	0	0	24	79				
CACNA1G	8913	broad.mit.edu	37	17	48646576	48646576	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:48646576G>C	ENST00000359106.5	+	3	405	c.405G>C	c.(403-405)aaG>aaC	p.K135N	CACNA1G_ENST00000507609.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K135N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K135N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K135N|CACNA1G_ENST00000352832.5_Missense_Mutation_p.K135N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K135N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K135N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K135N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K135N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K135N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K135N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K135N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	135					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGTGGTGAAGATGGTGGCCT	0.527																																						uc002irk.1		NA																	0				breast(1)	1						c.(403-405)AAG>AAC		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						157.0	151.0	153.0					17																	48646576		2014	4171	6185	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48646576G>C	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.405G>C	17.37:g.48646576G>C	ENSP00000352011:p.Lys135Asn					CACNA1G_uc002iri.1_Missense_Mutation_p.K135N|CACNA1G_uc002irj.1_Missense_Mutation_p.K135N|CACNA1G_uc002irl.1_Missense_Mutation_p.K135N|CACNA1G_uc002irm.1_Missense_Mutation_p.K135N|CACNA1G_uc002irn.1_Missense_Mutation_p.K135N|CACNA1G_uc002iro.1_Missense_Mutation_p.K135N|CACNA1G_uc002irp.1_Missense_Mutation_p.K135N|CACNA1G_uc002irq.1_Missense_Mutation_p.K135N|CACNA1G_uc002irr.1_Missense_Mutation_p.K135N|CACNA1G_uc002irs.1_Missense_Mutation_p.K135N|CACNA1G_uc002irt.1_Missense_Mutation_p.K135N|CACNA1G_uc002irv.1_Missense_Mutation_p.K135N|CACNA1G_uc002irw.1_Missense_Mutation_p.K135N|CACNA1G_uc002iru.1_Missense_Mutation_p.K135N|CACNA1G_uc002irx.1_Missense_Mutation_p.K48N|CACNA1G_uc002iry.1_Missense_Mutation_p.K48N|CACNA1G_uc002irz.1_Missense_Mutation_p.K48N|CACNA1G_uc002isa.1_Missense_Mutation_p.K48N|CACNA1G_uc002isb.1_Missense_Mutation_p.K48N|CACNA1G_uc002isc.1_Missense_Mutation_p.K48N|CACNA1G_uc002isd.1_Missense_Mutation_p.K48N|CACNA1G_uc002ise.1_Missense_Mutation_p.K48N|CACNA1G_uc002isf.1_Missense_Mutation_p.K48N|CACNA1G_uc002isg.1_Missense_Mutation_p.K48N|CACNA1G_uc002ish.1_Missense_Mutation_p.K48N|CACNA1G_uc002isi.1_Missense_Mutation_p.K48N	p.K135N	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		3	777	+	Breast(11;6.7e-17)		135			Helical; Name=S2 of repeat I; (Potential).|I.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.405G>C	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.969252	0.74246	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99129	-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46	5.06	5.06	0.68205	Ion transport (1);	0.101437	0.64402	D	0.000003	D	0.99612	0.9859	H	0.99325	4.515	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;0.996;1.0;1.0;0.998;1.0;0.998;1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.996;1.0;1.0;1.0;0.997;1.0;1.0;1.0;0.999;0.994	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.996;0.999;0.999;0.998;0.999;0.999;0.997;0.997;0.997;0.999;0.995;1.0;0.999;0.997;0.997;0.998;0.967;0.998;0.997;0.999;0.994;0.999;0.995;0.999;0.998;0.945	D	0.97507	1.0064	10	0.87932	D	0	.	13.7578	0.62948	0.0768:0.0:0.9232:0.0	.	135;135;135;135;135;135;135;135;135;135;135;135;135;135;135;135;135;135;135;135;135;135;135;135;135;135	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	N	135	ENSP00000353990:K135N;ENSP00000339302:K135N;ENSP00000392390:K135N;ENSP00000347078:K135N;ENSP00000409759:K135N;ENSP00000425522:K135N;ENSP00000426261:K135N;ENSP00000425451:K135N;ENSP00000422407:K135N;ENSP00000426814:K135N;ENSP00000427238:K135N;ENSP00000423112:K135N;ENSP00000420918:K135N;ENSP00000426172:K135N;ENSP00000423045:K135N;ENSP00000427173:K135N;ENSP00000426098:K135N;ENSP00000425698:K135N;ENSP00000426232:K135N;ENSP00000423317:K135N;ENSP00000350979:K135N;ENSP00000352011:K135N;ENSP00000414388:K135N;ENSP00000423155:K135N;ENSP00000422268:K135N;ENSP00000421518:K135N	ENSP00000339302:K135N	K	+	3	2	CACNA1G	46001575	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.852000	0.62904	2.348000	0.79779	0.407000	0.27541	AAG		0.527	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		9	32	0	0	0	0	9	32				
TUBD1	51174	broad.mit.edu	37	17	57963531	57963531	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:57963531G>A	ENST00000592426.1	-	2	233	c.233C>T	c.(232-234)tCa>tTa	p.S78L	TUBD1_ENST00000394239.3_Missense_Mutation_p.S78L|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.S78L|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000325752.3_Missense_Mutation_p.S78L|TUBD1_ENST00000340993.6_Missense_Mutation_p.S78L			Q9UJT1	TBD_HUMAN	tubulin, delta 1	78					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	GGCAGCCTTTGACAGCATTTG	0.413																																						uc002ixw.1		NA																	0				ovary(1)	1						c.(232-234)TCA>TTA		delta-tubulin							107.0	103.0	105.0					17																	57963531		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57963531G>A	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.233C>T	17.37:g.57963531G>A	ENSP00000468518:p.Ser78Leu					TUBD1_uc010ddf.1_Missense_Mutation_p.S78L|TUBD1_uc010ddg.1_Missense_Mutation_p.S43L|TUBD1_uc010ddh.1_5'UTR|TUBD1_uc010wok.1_Missense_Mutation_p.S78L|TUBD1_uc002ixx.1_Missense_Mutation_p.S78L|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Intron	p.S78L	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		3	511	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		78					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.233C>T	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248305	0.80024	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	6.08	3.79	0.43588	Tubulin/FtsZ, GTPase domain (4);	0.436856	0.26951	N	0.021664	T	0.64918	0.2642	L	0.49778	1.585	0.39284	D	0.964617	B;B;B;B	0.12013	0.005;0.001;0.004;0.005	B;B;B;B	0.15484	0.013;0.007;0.013;0.013	T	0.66280	-0.5963	10	0.49607	T	0.09	-2.5996	13.7741	0.63044	0.1429:0.0:0.8571:0.0	.	78;78;78;78	E9PCA7;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;TBD_HUMAN	L	78	ENSP00000320797:S78L;ENSP00000342399:S78L;ENSP00000377785:S78L;ENSP00000365262:S78L	ENSP00000320797:S78L	S	-	2	0	TUBD1	55318313	1.000000	0.71417	0.976000	0.42696	0.987000	0.75469	3.366000	0.52343	1.590000	0.49995	0.655000	0.94253	TCA		0.413	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		6	75	0	0	0	0	6	75				
USP32	84669	broad.mit.edu	37	17	58288742	58288742	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:58288742G>C	ENST00000300896.4	-	20	2507	c.2313C>G	c.(2311-2313)ctC>ctG	p.L771L	USP32_ENST00000592339.1_Silent_p.L441L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	771	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATTACCTGTTGAGTTCATAAA	0.408																																						uc002iyo.1		NA																	0				lung(2)|breast(2)|large_intestine(1)	5						c.(2311-2313)CTC>CTG		ubiquitin specific protease 32							140.0	130.0	133.0					17																	58288742		2202	4299	6501	SO:0001819	synonymous_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58288742G>C	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2313C>G	17.37:g.58288742G>C						USP32_uc002iyn.1_Silent_p.L441L	p.L771L	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		20	2599	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		771					Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	c.2313C>G	CCDS32697.1																																																																																				0.408	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		8	120	0	0	0	0	8	120				
CYB561	1534	broad.mit.edu	37	17	61512584	61512584	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:61512584G>A	ENST00000392976.1	-	5	725	c.426C>T	c.(424-426)ttC>ttT	p.F142F	CYB561_ENST00000360793.3_Silent_p.F142F|CYB561_ENST00000448884.2_Intron|CYB561_ENST00000584031.1_Missense_Mutation_p.S158F|CYB561_ENST00000392975.2_Silent_p.F142F|CYB561_ENST00000582297.1_Silent_p.F142F|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000542042.1_Silent_p.F209F|CYB561_ENST00000581573.1_Silent_p.F142F|CYB561_ENST00000582034.1_Silent_p.F113F|CYB561_ENST00000582997.1_Silent_p.F149F	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	142	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GGAACAGGAAGAAGCTGAAGC	0.642																																						uc002jap.2		NA																	0				ovary(1)	1						c.(424-426)TTC>TTT		cytochrome b-561							48.0	59.0	55.0					17																	61512584		2203	4300	6503	SO:0001819	synonymous_variant	1534				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding	g.chr17:61512584G>A		CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"""Cytochrome b genes"""	2571	protein-coding gene	gene with protein product	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.426C>T	17.37:g.61512584G>A						CYB561_uc002jaq.2_Silent_p.F188F|CYB561_uc002jar.2_Silent_p.F142F|CYB561_uc002jas.2_Silent_p.F142F|CYB561_uc010ddt.2_Missense_Mutation_p.S158F|CYB561_uc002jat.2_Silent_p.F142F|CYB561_uc010wpf.1_Intron|CYB561_uc010wpg.1_Silent_p.F113F	p.F142F	NM_001915	NP_001906	P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	4	828	-			142			Helical; (Potential).|Cytochrome b561.		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Silent	SNP	ENST00000392976.1	37	c.426C>T	CCDS11636.1																																																																																				0.642	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	NM_001915		11	43	0	0	0	0	11	43				
KCNH6	81033	broad.mit.edu	37	17	61611639	61611639	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:61611639C>T	ENST00000583023.1	+	5	1079	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	KCNH6_ENST00000314672.5_Silent_p.F356F|KCNH6_ENST00000580652.1_Silent_p.F356F|KCNH6_ENST00000581784.1_Silent_p.F356F|KCNH6_ENST00000456941.2_Silent_p.F356F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	356					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCATCCCTTTCGACCTCCTGA	0.622																																						uc002jay.2		NA																	0				skin(1)	1						c.(1066-1068)TTC>TTT		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						124.0	95.0	105.0					17																	61611639		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61611639C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1068C>T	17.37:g.61611639C>T						KCNH6_uc002jax.1_Silent_p.F356F|KCNH6_uc010wpl.1_Silent_p.F233F|KCNH6_uc010wpm.1_Silent_p.F356F|KCNH6_uc002jaz.1_Silent_p.F356F	p.F356F	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			5	1148	+			356			Helical; Name=Segment S3; (Potential).		Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.1068C>T	CCDS11638.1																																																																																				0.622	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		15	36	0	0	0	0	15	36				
ABCA9	10350	broad.mit.edu	37	17	66972084	66972084	+	Nonsense_Mutation	SNP	C	C	T	rs186593974		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:66972084C>T	ENST00000340001.4	-	39	5058	c.4847G>A	c.(4846-4848)tGg>tAg	p.W1616*	ABCA9_ENST00000453985.2_Nonsense_Mutation_p.W1578*|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1616					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GAGGAGTTTCCACTTCACCGA	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		19287	0.0		0.001	False		,,,				2504	0.0					uc002jhu.2		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(4846-4848)TGG>TAG		ATP-binding cassette, sub-family A, member 9							59.0	57.0	58.0					17																	66972084		2203	4300	6503	SO:0001587	stop_gained	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66972084C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4847G>A	17.37:g.66972084C>T	ENSP00000342216:p.Trp1616*					ABCA9_uc010dez.2_Nonsense_Mutation_p.W1578*	p.W1616*	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			39	4990	-	Breast(10;1.47e-12)		1616					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Nonsense_Mutation	SNP	ENST00000340001.4	37	c.4847G>A	CCDS11681.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	39	7.410312	0.98265	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	.	.	.	4.92	4.92	0.64577	.	0.000000	0.44483	D	0.000445	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6299	0.76899	0.0:1.0:0.0:0.0	.	.	.	.	X	1616;1561	.	ENSP00000342216:W1616X	W	-	2	0	ABCA9	64483679	1.000000	0.71417	0.976000	0.42696	0.011000	0.07611	2.884000	0.48562	2.285000	0.76669	0.609000	0.83330	TGG		0.408	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		3	12	0	0	0	0	3	12				
CCDC40	55036	broad.mit.edu	37	17	78063659	78063659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:78063659G>A	ENST00000397545.4	+	17	2835	c.2808G>A	c.(2806-2808)atG>atA	p.M936I	CCDC40_ENST00000374877.3_Missense_Mutation_p.M936I|CCDC40_ENST00000573903.1_3'UTR	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	936					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.M936N(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCGGGCCATGAAGGGCGAGA	0.582																																						uc010dht.2		NA																	1	Substitution - Missense(1)		ovary(1)	ovary(3)	3						c.(2806-2808)ATG>ATA		coiled-coil domain containing 40							39.0	41.0	40.0					17																	78063659		1976	4158	6134	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78063659G>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2808G>A	17.37:g.78063659G>A	ENSP00000380679:p.Met936Ile					CCDC40_uc002jxm.3_Missense_Mutation_p.M719I|CCDC40_uc002jxn.3_Missense_Mutation_p.M332I	p.M936I	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		17	2835	+	all_neural(118;0.167)		936			Potential.		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.2808G>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203434	0.58234	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.66460	-0.21;-0.02	4.42	4.42	0.53409	.	.	.	.	.	D	0.84056	0.5388	M	0.86651	2.83	0.52501	D	0.999955	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87499	0.2432	9	0.66056	D	0.02	-22.4342	17.3485	0.87316	0.0:0.0:1.0:0.0	.	936;719	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	I	936	ENSP00000364011:M936I;ENSP00000380679:M936I	ENSP00000364011:M936I	M	+	3	0	CCDC40	75678254	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	8.130000	0.89598	2.182000	0.69389	0.563000	0.77884	ATG		0.582	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		6	29	0	0	0	0	6	29				
RNF213	57674	broad.mit.edu	37	17	78317686	78317686	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:78317686C>G	ENST00000582970.1	+	28	6356	c.6213C>G	c.(6211-6213)ttC>ttG	p.F2071L	RNF213_ENST00000336301.6_Missense_Mutation_p.F144L|RNF213_ENST00000508628.2_Missense_Mutation_p.F2120L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2071					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F144L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGTTTCTTTTCAAGCTCCTCA	0.438																																						uc002jyh.1		NA																	1	Substitution - Missense(1)	p.F144L(1)	ovary(1)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(430-432)TTC>TTG		ring finger protein 213							179.0	160.0	166.0					17																	78317686		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78317686C>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6213C>G	17.37:g.78317686C>G	ENSP00000464087:p.Phe2071Leu						p.F144L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		3	655	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.432C>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748538	0.49257	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.59906	0.23	5.92	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	L	0.36672	1.1	0.34933	D	0.749546	D	0.89917	1.0	D	0.91635	0.999	T	0.75758	-0.3205	10	0.87932	D	0	.	11.2635	0.49097	0.0:0.8603:0.0:0.1397	.	144	Q63HN8	RN213_HUMAN	L	2071;2120;144	ENSP00000338218:F144L	ENSP00000338218:F144L	F	+	3	2	RNF213	75932281	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.432000	0.52824	1.510000	0.48803	0.561000	0.74099	TTC		0.438	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		18	89	0	0	0	0	18	89				
OXLD1	339229	broad.mit.edu	37	17	79632428	79632428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:79632428C>A	ENST00000374741.3	-	2	257	c.247G>T	c.(247-249)Gag>Tag	p.E83*	OXLD1_ENST00000573786.1_5'UTR|PDE6G_ENST00000574777.1_5'Flank|CCDC137_ENST00000329214.8_5'Flank|PDE6G_ENST00000571224.1_5'Flank|OXLD1_ENST00000571503.1_3'UTR	NM_001039842.1	NP_001034931.1	Q5BKU9	OXLD1_HUMAN	oxidoreductase-like domain containing 1	83	Oxidoreductase-like.					mitochondrion (GO:0005739)											GGCTGGAGCTCAGGTGGCAGC	0.657																																						uc002kba.2		NA																	0					0						c.(247-249)GAG>TAG		hypothetical protein LOC339229							49.0	46.0	47.0					17																	79632428		2203	4300	6503	SO:0001587	stop_gained	339229							g.chr17:79632428C>A		CCDS32766.1	17q25.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000204237	ENSG00000204237			27901	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 90"""	C17orf90			Standard	NM_001039842		Approved	MGC104712	uc002kba.3	Q5BKU9	OTTHUMG00000178063	ENST00000374741.3:c.247G>T	17.37:g.79632428C>A	ENSP00000363873:p.Glu83*					C17orf90_uc002kbb.2_3'UTR|CCDC137_uc002kbc.3_5'Flank|CCDC137_uc002kbd.2_5'Flank	p.E83*	NM_001039842	NP_001034931	Q5BKU9	CQ090_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	258	-	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		83					A6ND24	Nonsense_Mutation	SNP	ENST00000374741.3	37	c.247G>T	CCDS32766.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936728	0.73557	.	.	ENSG00000204237	ENST00000374741	.	.	.	4.72	2.68	0.31781	.	0.394006	0.20729	N	0.086753	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-3.3026	8.6609	0.34093	0.0:0.6905:0.0:0.3095	.	.	.	.	X	83	.	ENSP00000363873:E83X	E	-	1	0	C17orf90	77242833	0.036000	0.19791	0.614000	0.29051	0.439000	0.31926	0.293000	0.19029	0.972000	0.38314	0.655000	0.94253	GAG		0.657	OXLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440380.1	NM_001039842		8	23	1	0	1.77e-08	1.9e-08	8	23				
PTPRM	5797	broad.mit.edu	37	18	8370921	8370921	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:8370921G>C	ENST00000332175.8	+	22	4086	c.3049G>C	c.(3049-3051)Gag>Cag	p.E1017Q	PTPRM_ENST00000400053.4_Missense_Mutation_p.E955Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.E804Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1031Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1030Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1017	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGATGACACAGAGATATATAA	0.348																																						uc002knn.3		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(3049-3051)GAG>CAG		protein tyrosine phosphatase, receptor type, M							91.0	93.0	92.0					18																	8370921		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8370921G>C	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3049G>C	18.37:g.8370921G>C	ENSP00000331418:p.Glu1017Gln					PTPRM_uc010dkv.2_Missense_Mutation_p.E1030Q|PTPRM_uc010wzl.1_Missense_Mutation_p.E804Q	p.E1017Q	NM_002845	NP_002836	P28827	PTPRM_HUMAN			22	3552	+		Colorectal(10;0.234)	1017			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.3049G>C	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021172	0.93462	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.66	5.66	0.87406	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	L	0.33753	1.03	0.80722	D	1	D;D;D	0.76494	0.999;0.977;0.976	D;P;D	0.76071	0.987;0.631;0.954	T	0.42515	-0.9447	10	0.66056	D	0.02	.	20.1076	0.97898	0.0:0.0:1.0:0.0	.	804;1030;1017	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Q	1017;1031;955;804	ENSP00000331418:E1017Q;ENSP00000382933:E1031Q;ENSP00000382927:E955Q;ENSP00000387608:E804Q	ENSP00000331418:E1017Q	E	+	1	0	PTPRM	8360921	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.779000	0.99018	2.823000	0.97156	0.650000	0.86243	GAG		0.348	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			9	74	0	0	0	0	9	74				
ANKRD12	23253	broad.mit.edu	37	18	9256444	9256444	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:9256444C>G	ENST00000262126.4	+	9	3419	c.3179C>G	c.(3178-3180)tCa>tGa	p.S1060*	ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.S1037*|ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.S1037*|RP11-888D10.4_ENST00000609701.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1060						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TCACCAGCATCAAAAGATACC	0.333																																						uc002knv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3178-3180)TCA>TGA		ankyrin repeat domain 12 isoform 1							93.0	98.0	97.0					18																	9256444		2198	4299	6497	SO:0001587	stop_gained	23253					nucleus		g.chr18:9256444C>G	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.3179C>G	18.37:g.9256444C>G	ENSP00000262126:p.Ser1060*					ANKRD12_uc002knw.2_Nonsense_Mutation_p.S1037*|ANKRD12_uc002knx.2_Nonsense_Mutation_p.S1037*|ANKRD12_uc010dkx.1_Nonsense_Mutation_p.S767*	p.S1060*	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	3436	+			1060					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Nonsense_Mutation	SNP	ENST00000262126.4	37	c.3179C>G	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	38	7.023653	0.98010	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	.	.	.	5.17	4.29	0.51040	.	0.525534	0.20286	N	0.095347	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.4033	11.8854	0.52600	0.0:0.8532:0.0:0.1468	.	.	.	.	X	1037;1060	.	ENSP00000262126:S1060X	S	+	2	0	ANKRD12	9246444	0.476000	0.25901	0.987000	0.45799	0.578000	0.36192	2.442000	0.44873	1.179000	0.42884	-0.157000	0.13467	TCA		0.333	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		24	106	0	0	0	0	24	106				
TXNDC2	84203	broad.mit.edu	37	18	9887362	9887362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:9887362G>A	ENST00000306084.6	+	2	1085	c.886G>A	c.(886-888)Gag>Aag	p.E296K	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.5_Missense_Mutation_p.E229K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	296	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCAGCCCAAGGAGGGTGACCT	0.602																																						uc002koi.3		NA																	0				ovary(1)|pancreas(1)	2						c.(886-888)GAG>AAG		thioredoxin domain-containing 2 isoform 2							141.0	135.0	137.0					18																	9887362		2203	4300	6503	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887362G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.886G>A	18.37:g.9887362G>A	ENSP00000304908:p.Glu296Lys					TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Missense_Mutation_p.E229K	p.E296K	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN			2	1335	+			296			13.|22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.886G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.566284	0.27915	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.04654	3.64;3.58	4.46	-8.91	0.00778	.	2.644150	0.01642	N	0.024106	T	0.04588	0.0125	L	0.34521	1.04	0.09310	N	1	B	0.21520	0.057	B	0.28784	0.094	T	0.17501	-1.0367	9	.	.	.	.	9.9656	0.41723	0.2586:0.5234:0.218:0.0	.	296	Q86VQ3	TXND2_HUMAN	K	229;296;296	ENSP00000350419:E229K;ENSP00000304908:E296K	.	E	+	1	0	TXNDC2	9877362	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.233000	0.00269	-2.453000	0.00541	-2.324000	0.00251	GAG		0.602	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			32	73	0	0	0	0	32	73				
KIAA1328	57536	broad.mit.edu	37	18	34802101	34802101	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:34802101C>G	ENST00000280020.5	+	10	1667	c.1645C>G	c.(1645-1647)Cta>Gta	p.L549V	KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000591619.1_Missense_Mutation_p.L545V	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	549										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		ACTCAGTCCTCTAAAATCAAC	0.473																																						uc002kzz.2		NA																	0				central_nervous_system(1)	1						c.(1645-1647)CTA>GTA		hypothetical protein LOC57536							39.0	37.0	37.0					18																	34802101		1860	4103	5963	SO:0001583	missense	57536							g.chr18:34802101C>G	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1645C>G	18.37:g.34802101C>G	ENSP00000280020:p.Leu549Val					KIAA1328_uc002lab.2_3'UTR|KIAA1328_uc002lac.1_Missense_Mutation_p.L408V|KIAA1328_uc010dnc.1_RNA	p.L549V	NM_020776	NP_065827	Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	10	1667	+			549					Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	37	c.1645C>G	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	C	1.481	-0.557098	0.03967	.	.	ENSG00000150477	ENST00000280020;ENST00000383055	T	0.42900	0.96	5.93	0.879	0.19155	.	2.648660	0.01252	N	0.008919	T	0.28200	0.0696	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.08055	0.002;0.003	T	0.08046	-1.0741	10	0.29301	T	0.29	.	2.5328	0.04707	0.1414:0.4293:0.2743:0.1549	.	549;549	A8K8C3;Q86T90	.;K1328_HUMAN	V	549	ENSP00000280020:L549V	ENSP00000280020:L549V	L	+	1	2	KIAA1328	33056099	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.158000	0.16422	-0.124000	0.11724	0.591000	0.81541	CTA		0.473	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		5	5	0	0	0	0	5	5				
TCEB3C	162699	broad.mit.edu	37	18	44555035	44555035	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:44555035C>G	ENST00000330682.2	-	1	1414	c.1179G>C	c.(1177-1179)tgG>tgC	p.W393C	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	393	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						AATGAATCCTCCATAATTCAT	0.577																																						uc010xdb.1		NA																	0					0						c.(1177-1179)TGG>TGC		transcription elongation factor B polypeptide							173.0	168.0	169.0					18																	44555035		1857	3682	5539	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555035C>G	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1179G>C	18.37:g.44555035C>G	ENSP00000328232:p.Trp393Cys					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.W393C	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1415	-			393			Activation domain (By similarity).			Missense_Mutation	SNP	ENST00000330682.2	37	c.1179G>C	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	13.87	2.367514	0.42003	.	.	ENSG00000183791	ENST00000330682	T	0.56611	0.45	1.75	1.75	0.24633	.	0.000000	0.47852	D	0.000208	T	0.70552	0.3237	M	0.86028	2.79	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.74472	-0.3654	10	0.87932	D	0	-13.5939	9.568	0.39411	0.0:1.0:0.0:0.0	.	393	Q8NG57	ELOA3_HUMAN	C	393	ENSP00000328232:W393C	ENSP00000328232:W393C	W	-	3	0	TCEB3C	42809033	1.000000	0.71417	0.026000	0.17262	0.006000	0.05464	5.399000	0.66314	1.329000	0.45376	0.485000	0.47835	TGG		0.577	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		7	221	0	0	0	0	7	221				
TCEB3B	51224	broad.mit.edu	37	18	44560858	44560858	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:44560858C>G	ENST00000332567.4	-	1	1130	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	260					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGGTTTCCTCTCTTAAGCAG	0.597																																						uc002lcr.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(778-780)GAG>CAG		elongin A2							55.0	58.0	57.0					18																	44560858		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560858C>G	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.778G>C	18.37:g.44560858C>G	ENSP00000331302:p.Glu260Gln					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.E260Q	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	1131	-			260					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.778G>C	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	7.420	0.636589	0.14386	.	.	ENSG00000206181	ENST00000332567	T	0.11495	2.77	1.95	0.0699	0.14376	.	0.000000	0.38605	U	0.001621	T	0.06508	0.0167	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.30621	-0.9972	10	0.31617	T	0.26	.	4.1118	0.10062	0.0:0.6076:0.0:0.3924	.	260	Q8IYF1	ELOA2_HUMAN	Q	260	ENSP00000331302:E260Q	ENSP00000331302:E260Q	E	-	1	0	TCEB3B	42814856	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.706000	0.25690	0.003000	0.14656	0.462000	0.41574	GAG		0.597	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		13	57	0	0	0	0	13	57				
ATP8B1	5205	broad.mit.edu	37	18	55359051	55359051	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:55359051G>C	ENST00000283684.4	-	11	1207	c.1208C>G	c.(1207-1209)tCt>tGt	p.S403C	ATP8B1_ENST00000536015.1_Missense_Mutation_p.S403C|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	403			S -> Y (in PFIC1). {ECO:0000269|PubMed:15239083}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GACATAGAGAGAGATGGGTAC	0.443																																						uc002lgw.2		NA																	0				breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10	GRCh37	CM024742	ATP8B1	M		c.(1207-1209)TCT>TGT		ATPase, class I, type 8B, member 1							153.0	128.0	137.0					18																	55359051		2203	4300	6503	SO:0001583	missense	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55359051G>C	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1208C>G	18.37:g.55359051G>C	ENSP00000283684:p.Ser403Cys					uc002lgv.1_Intron	p.S403C	NM_005603	NP_005594	O43520	AT8B1_HUMAN			11	1208	-		Colorectal(73;0.229)	403		S -> Y (in PFIC1).	Helical; (Potential).		Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.1208C>G	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409641	0.83340	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.64991	-0.13;-0.13	6.17	6.17	0.99709	ATPase, P-type, ATPase-associated domain (1);	0.099704	0.64402	D	0.000001	D	0.86385	0.5920	H	0.97240	3.965	0.58432	D	0.999998	D	0.76494	0.999	D	0.71414	0.973	D	0.90224	0.4274	10	0.87932	D	0	.	16.2882	0.82736	0.0:0.0:0.867:0.133	.	403	O43520	AT8B1_HUMAN	C	403	ENSP00000283684:S403C;ENSP00000445359:S403C	ENSP00000283684:S403C	S	-	2	0	ATP8B1	53510049	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.755000	0.98912	2.941000	0.99782	0.655000	0.94253	TCT		0.443	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		8	37	0	0	0	0	8	37				
PHLPP1	23239	broad.mit.edu	37	18	60642651	60642651	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:60642651G>A	ENST00000262719.5	+	16	4011	c.3777G>A	c.(3775-3777)caG>caA	p.Q1259Q	PHLPP1_ENST00000400316.4_Silent_p.Q747Q			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1259	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|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)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CTGCTGGGCAGAAGCTTGGTG	0.527																																						uc002lis.2		NA																	0					0						c.(2239-2241)CAG>CAA		PH domain and leucine rich repeat protein							132.0	127.0	129.0					18																	60642651		2030	4173	6203	SO:0001819	synonymous_variant	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60642651G>A	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3777G>A	18.37:g.60642651G>A							p.Q747Q	NM_194449	NP_919431	O60346	PHLP1_HUMAN			17	2419	+			1259			PP2C-like.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	37	c.2241G>A	CCDS45881.2																																																																																				0.527	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		7	84	0	0	0	0	7	84				
DOK6	220164	broad.mit.edu	37	18	67365819	67365819	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:67365819G>C	ENST00000382713.5	+	5	779	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	197	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.							p.E197K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GTTCACGTTTGAGTCAGGAAG	0.478																																						uc002lkl.2		NA																	1	Substitution - Missense(1)		cervix(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(589-591)GAG>CAG		docking protein 6							62.0	55.0	57.0					18																	67365819		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67365819G>C	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.589G>C	18.37:g.67365819G>C	ENSP00000372160:p.Glu197Gln						p.E197Q	NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN			5	779	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	197			IRS-type PTB.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.589G>C	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911849	0.52439	.	.	ENSG00000206052	ENST00000382713	D	0.90504	-2.68	5.72	5.72	0.89469	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.103230	0.64402	D	0.000003	D	0.96343	0.8807	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.96711	0.9525	10	0.87932	D	0	.	18.8571	0.92257	0.0:0.0:1.0:0.0	.	197	Q6PKX4	DOK6_HUMAN	Q	197	ENSP00000372160:E197Q	ENSP00000372160:E197Q	E	+	1	0	DOK6	65516799	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.722000	0.98770	2.709000	0.92574	0.591000	0.81541	GAG		0.478	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		3	17	0	0	0	0	3	17				
DOK6	220164	broad.mit.edu	37	18	67406304	67406304	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:67406304G>A	ENST00000382713.5	+	6	893	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	235	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TGAGCAACATGAAAGATTAAT	0.448																																						uc002lkl.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(703-705)GAA>AAA		docking protein 6							125.0	120.0	121.0					18																	67406304		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67406304G>A	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.703G>A	18.37:g.67406304G>A	ENSP00000372160:p.Glu235Lys						p.E235K	NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN			6	893	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	235			IRS-type PTB.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.703G>A	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699394	0.68501	.	.	ENSG00000206052	ENST00000382713	D	0.82803	-1.65	6.08	6.08	0.98989	Insulin receptor substrate-1, PTB (1);	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	N	0.21142	0.635	0.80722	D	1	B	0.18013	0.025	B	0.18871	0.023	T	0.67333	-0.5697	10	0.02654	T	1	-6.129	19.6603	0.95864	0.0:0.0:1.0:0.0	.	235	Q6PKX4	DOK6_HUMAN	K	235	ENSP00000372160:E235K	ENSP00000372160:E235K	E	+	1	0	DOK6	65557284	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.825000	0.86693	2.894000	0.99253	0.591000	0.81541	GAA		0.448	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		10	106	0	0	0	0	10	106				
CNDP2	55748	broad.mit.edu	37	18	72183552	72183552	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr18:72183552G>A	ENST00000324262.4	+	9	1309	c.993G>A	c.(991-993)gtG>gtA	p.V331V	CNDP2_ENST00000324301.8_Silent_p.V247V|CNDP2_ENST00000579847.1_Silent_p.V331V	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	331					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CCAAGACCGTGATTCCCAGGA	0.597																																						uc002llm.1		NA																	0				ovary(2)|skin(1)	3						c.(991-993)GTG>GTA		CNDP dipeptidase 2							137.0	109.0	119.0					18																	72183552		2203	4300	6503	SO:0001819	synonymous_variant	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72183552G>A	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.993G>A	18.37:g.72183552G>A						CNDP2_uc002lln.1_Silent_p.V247V|CNDP2_uc010dqs.2_Intron	p.V331V	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	9	1155	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	331					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Silent	SNP	ENST00000324262.4	37	c.993G>A	CCDS12006.1																																																																																				0.597	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		14	48	0	0	0	0	14	48				
SBNO2	22904	broad.mit.edu	37	19	1109708	1109708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:1109708G>A	ENST00000361757.3	-	27	3334	c.3097C>T	c.(3097-3099)Cag>Tag	p.Q1033*	SBNO2_ENST00000587024.1_Nonsense_Mutation_p.Q1023*|SBNO2_ENST00000438103.2_Nonsense_Mutation_p.Q976*	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1033					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCGTCCTGCGGGTGCCCG	0.672																																						uc002lrk.3		NA																	0					0						c.(3097-3099)CAG>TAG		strawberry notch homolog 2 isoform 1							28.0	36.0	34.0					19																	1109708		1913	4115	6028	SO:0001587	stop_gained	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1109708G>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.3097C>T	19.37:g.1109708G>A	ENSP00000354733:p.Gln1033*					SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_Nonsense_Mutation_p.Q976*|SBNO2_uc010dse.2_Nonsense_Mutation_p.Q1016*|SBNO2_uc010xgj.1_Intron	p.Q1033*	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	3335	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	1033					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Nonsense_Mutation	SNP	ENST00000361757.3	37	c.3097C>T	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	40	8.130518	0.98667	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.45	4.45	0.53987	.	0.061296	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-26.0054	10.0672	0.42311	0.0987:0.0:0.9013:0.0	.	.	.	.	X	1033;976;1051	.	ENSP00000250872:Q1051X	Q	-	1	0	SBNO2	1060708	0.998000	0.40836	0.970000	0.41538	0.735000	0.41995	2.729000	0.47327	2.009000	0.58944	0.555000	0.69702	CAG		0.672	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		10	34	0	0	0	0	10	34				
AP3D1	8943	broad.mit.edu	37	19	2110821	2110821	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:2110821G>A	ENST00000345016.5	-	25	3105	c.2874C>T	c.(2872-2874)agC>agT	p.S958S	AP3D1_ENST00000356926.4_Silent_p.S917S|AP3D1_ENST00000350812.6_Silent_p.S789S|AP3D1_ENST00000355272.6_Silent_p.S1020S	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	958					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGGATGCTGCTGCTCCTGT	0.642																																						uc002luz.2		NA																	0					0						c.(2872-2874)AGC>AGT		adaptor-related protein complex 3, delta 1							46.0	50.0	49.0					19																	2110821		2201	4296	6497	SO:0001819	synonymous_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2110821G>A	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2874C>T	19.37:g.2110821G>A						AP3D1_uc010dsv.2_Silent_p.S48S|AP3D1_uc002luy.2_Silent_p.S917S|AP3D1_uc002lva.2_Silent_p.S1020S	p.S958S	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	25	3097	-		Hepatocellular(1079;0.137)	958					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.2874C>T	CCDS42459.1																																																																																				0.642	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			8	36	0	0	0	0	8	36				
TLE2	7089	broad.mit.edu	37	19	3028341	3028341	+	Silent	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:3028341C>A	ENST00000262953.6	-	3	424	c.162G>T	c.(160-162)acG>acT	p.T54T	TLE2_ENST00000590536.1_Silent_p.T54T|TLE2_ENST00000591529.1_Silent_p.T67T|TLE2_ENST00000443826.3_5'UTR|TLE2_ENST00000447365.2_5'Flank|TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000586422.1_5'UTR|TLE2_ENST00000426948.2_Silent_p.T67T	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	54	Gln-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCATTTCCGTCTTCTCGC	0.592																																						uc002lww.2		NA																	0					0						c.(160-162)ACG>ACT		transducin-like enhancer protein 2 isoform 1							64.0	57.0	59.0					19																	3028341		2002	4195	6197	SO:0001819	synonymous_variant	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3028341C>A	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.162G>T	19.37:g.3028341C>A						TLE2_uc010xhb.1_5'Flank|TLE2_uc010dth.2_Silent_p.T54T|TLE2_uc010xhc.1_5'UTR|TLE2_uc010dti.2_Silent_p.T67T|TLE2_uc010xhd.1_Silent_p.T54T	p.T54T	NM_003260	NP_003251	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	425	-			54			Gln-rich.		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Silent	SNP	ENST00000262953.6	37	c.162G>T	CCDS45911.1																																																																																				0.592	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		4	10	1	0	0.000602214	0.000625187	4	10				
DOHH	83475	broad.mit.edu	37	19	3494056	3494056	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:3494056C>T	ENST00000427575.1	-	3	772	c.321G>A	c.(319-321)ctG>ctA	p.L107L	DOHH_ENST00000250937.3_Silent_p.L107L	NM_001145165.1	NP_001138637.1			deoxyhypusine hydroxylase/monooxygenase											central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AATACTGCTTCAGGATCTCCA	0.642																																						uc002lxs.2		NA																	0					0						c.(319-321)CTG>CTA		deoxyhypusine hydroxylase/monooxygenase							56.0	52.0	53.0					19																	3494056		2203	4300	6503	SO:0001819	synonymous_variant	83475				peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding	g.chr19:3494056C>T	BC002817	CCDS12108.1	19p13.3	2008-02-05	2006-05-22	2006-05-22		ENSG00000129932			28662	protein-coding gene	gene with protein product		611262	"""HEAT-like (PBS lyase) repeat containing 1"""	HLRC1		16371467, 16533814	Standard	NM_031304		Approved	MGC4293	uc002lxs.3	Q9BU89		ENST00000427575.1:c.321G>A	19.37:g.3494056C>T						DOHH_uc010xhl.1_Silent_p.L107L	p.L107L	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	3	484	-			107			HEAT-like PBS-type 2.			Silent	SNP	ENST00000427575.1	37	c.321G>A	CCDS12108.1																																																																																				0.642	DOHH-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452932.1	NM_031304		4	15	0	0	0	0	4	15				
DOHH	83475	broad.mit.edu	37	19	3494073	3494073	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:3494073C>T	ENST00000427575.1	-	3	755	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	DOHH_ENST00000250937.3_Missense_Mutation_p.E102K	NM_001145165.1	NP_001138637.1			deoxyhypusine hydroxylase/monooxygenase											central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGAACTTCCGGGTCCCCG	0.632																																						uc002lxs.2		NA																	0					0						c.(304-306)GAA>AAA		deoxyhypusine hydroxylase/monooxygenase							49.0	47.0	47.0					19																	3494073		2203	4300	6503	SO:0001583	missense	83475				peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding	g.chr19:3494073C>T	BC002817	CCDS12108.1	19p13.3	2008-02-05	2006-05-22	2006-05-22		ENSG00000129932			28662	protein-coding gene	gene with protein product		611262	"""HEAT-like (PBS lyase) repeat containing 1"""	HLRC1		16371467, 16533814	Standard	NM_031304		Approved	MGC4293	uc002lxs.3	Q9BU89		ENST00000427575.1:c.304G>A	19.37:g.3494073C>T	ENSP00000398882:p.Glu102Lys					DOHH_uc010xhl.1_Missense_Mutation_p.E102K	p.E102K	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	3	467	-			102			HEAT-like PBS-type 2.			Missense_Mutation	SNP	ENST00000427575.1	37	c.304G>A	CCDS12108.1	.	.	.	.	.	.	.	.	.	.	C	9.098	1.003327	0.19121	.	.	ENSG00000129932	ENST00000427575;ENST00000250937	T;T	0.19394	2.15;2.15	4.31	0.634	0.17718	Armadillo-like helical (1);Armadillo-type fold (1);	0.255411	0.37053	N	0.002261	T	0.12475	0.0303	L	0.41492	1.28	0.36099	D	0.844021	B	0.06786	0.001	B	0.10450	0.005	T	0.21861	-1.0233	10	0.16420	T	0.52	-8.3074	4.2701	0.10782	0.1589:0.5944:0.1543:0.0924	.	102	Q9BU89	DOHH_HUMAN	K	102	ENSP00000398882:E102K;ENSP00000250937:E102K	ENSP00000250937:E102K	E	-	1	0	DOHH	3445073	0.000000	0.05858	0.041000	0.18516	0.114000	0.19823	0.196000	0.17176	-0.059000	0.13154	-0.264000	0.10439	GAA		0.632	DOHH-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452932.1	NM_031304		5	14	0	0	0	0	5	14				
SAFB2	9667	broad.mit.edu	37	19	5622555	5622555	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:5622555C>G	ENST00000252542.4	-	1	436	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	SAFB_ENST00000433404.1_5'Flank|SAFB_ENST00000454510.1_5'Flank|SAFB_ENST00000588852.1_5'Flank|SAFB_ENST00000592224.1_5'Flank|SAFB_ENST00000292123.5_5'Flank|SAFB_ENST00000538656.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	58	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TTGAGCCGCTCCATCAGGACG	0.731																																					Ovarian(127;888 1728 23957 44128 52668)	uc002mcd.2		NA																	0					0						c.(172-174)GAG>CAG		scaffold attachment factor B2							21.0	20.0	21.0					19																	5622555		2202	4299	6501	SO:0001583	missense	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5622555C>G	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.172G>C	19.37:g.5622555C>G	ENSP00000252542:p.Glu58Gln					SAFB_uc010xiq.1_5'Flank|SAFB_uc002mcf.2_5'Flank|SAFB_uc002mcg.2_5'Flank|SAFB_uc002mce.3_5'Flank|SAFB_uc010xir.1_5'Flank|SAFB_uc010xis.1_5'Flank|SAFB_uc010xit.1_5'Flank|SAFB_uc010xiu.1_5'Flank|SAFB2_uc010xio.1_Missense_Mutation_p.E58Q|SAFB2_uc010xip.1_RNA	p.E58Q	NM_014649	NP_055464	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	1	384	-			58			SAP.		B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	c.172G>C	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929383	0.92389	.	.	ENSG00000130254	ENST00000434962;ENST00000415313;ENST00000394625;ENST00000252542;ENST00000536849	T	0.11385	2.78	3.98	3.98	0.46160	DNA-binding SAP (4);	0.144833	0.31061	N	0.008322	T	0.29126	0.0724	L	0.59967	1.855	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79108	0.99;0.992	T	0.02596	-1.1136	10	0.48119	T	0.1	-24.1942	16.6068	0.84832	0.0:1.0:0.0:0.0	.	58;58	A0PJ47;Q14151	.;SAFB2_HUMAN	Q	58;58;58;58;37	ENSP00000252542:E58Q	ENSP00000252542:E58Q	E	-	1	0	SAFB2	5573555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.406000	0.52637	2.213000	0.71641	0.561000	0.74099	GAG		0.731	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		8	12	0	0	0	0	8	12				
RFX2	5990	broad.mit.edu	37	19	6007164	6007164	+	Missense_Mutation	SNP	C	C	T	rs371410292		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:6007164C>T	ENST00000303657.5	-	12	1410	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.E396K|RFX2_ENST00000359161.3_Missense_Mutation_p.E421K	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACGGCGCCCTCGGGGTCTTCG	0.667																																					Colon(38;171 817 19800 47433 48051)	uc002meb.2		NA																	0				breast(4)|ovary(1)|skin(1)	6						c.(1261-1263)GAG>AAG		regulatory factor X2 isoform a		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	57.0	55.0	56.0		1261,1186	4.0	0.0	19		56	0,8600		0,0,4300	no	missense,missense	RFX2	NM_000635.3,NM_134433.2	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	421/724,396/699	6007164	1,13005	2203	4300	6503	SO:0001583	missense	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6007164C>T		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1261G>A	19.37:g.6007164C>T	ENSP00000306335:p.Glu421Lys					RFX2_uc002mec.2_Missense_Mutation_p.E396K|RFX2_uc002med.1_3'UTR	p.E421K	NM_000635	NP_000626	P48378	RFX2_HUMAN			12	1530	-			421					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	c.1261G>A	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378491	0.42207	2.27E-4	0.0	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.07567	3.18	4.01	4.01	0.46588	.	0.109295	0.64402	D	0.000010	T	0.08179	0.0204	L	0.50333	1.59	0.80722	D	1	P;P	0.41978	0.767;0.656	B;B	0.37888	0.26;0.161	T	0.30238	-0.9985	10	0.11182	T	0.66	-15.7536	13.2391	0.59987	0.0:1.0:0.0:0.0	.	396;421	P48378-2;P48378	.;RFX2_HUMAN	K	421;396;208	ENSP00000306335:E421K	ENSP00000306335:E421K	E	-	1	0	RFX2	5958164	1.000000	0.71417	0.020000	0.16555	0.135000	0.20990	7.613000	0.82986	1.948000	0.56530	0.655000	0.94253	GAG		0.667	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		7	27	0	0	0	0	7	27				
TNFSF14	8740	broad.mit.edu	37	19	6665352	6665352	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:6665352G>C	ENST00000599359.1	-	5	689	c.308C>G	c.(307-309)tCc>tGc	p.S103C	TNFSF14_ENST00000245912.3_Missense_Mutation_p.S67C|TNFSF14_ENST00000326176.9_Missense_Mutation_p.S67C			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	103					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GGTCAAGCTGGAGTTGGCCCC	0.602																																						uc002mfk.1		NA																	0				skin(1)	1						c.(307-309)TCC>TGC		tumor necrosis factor ligand superfamily, member							8.0	7.0	7.0					19																	6665352		1892	3802	5694	SO:0001583	missense	8740				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6665352G>C	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.308C>G	19.37:g.6665352G>C	ENSP00000469049:p.Ser103Cys					TNFSF14_uc002mfj.1_Missense_Mutation_p.S67C	p.S103C	NM_003807	NP_003798	O43557	TNF14_HUMAN			5	690	-			103			Extracellular (Potential).		A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.308C>G	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	G	8.734	0.917284	0.17982	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T	0.32272	1.46	4.87	0.0396	0.14205	Tumour necrosis factor (2);Tumour necrosis factor-like (2);	1.098930	0.06902	N	0.806099	T	0.25158	0.0611	L	0.54323	1.7	0.21445	N	0.99968	P;P	0.39116	0.529;0.66	B;B	0.36719	0.165;0.231	T	0.23297	-1.0192	10	0.38643	T	0.18	-4.7119	3.2487	0.06806	0.3027:0.0:0.5131:0.1842	.	103;67	O43557;O43557-2	TNF14_HUMAN;.	C	103;67	ENSP00000326940:S67C	ENSP00000245912:S103C	S	-	2	0	TNFSF14	6616352	0.983000	0.35010	0.791000	0.31998	0.331000	0.28603	0.311000	0.19380	0.140000	0.18849	0.491000	0.48974	TCC		0.602	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			3	3	0	0	0	0	3	3				
VAV1	7409	broad.mit.edu	37	19	6833552	6833552	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:6833552C>G	ENST00000602142.1	+	17	1706	c.1624C>G	c.(1624-1626)Cag>Gag	p.Q542E	VAV1_ENST00000596764.1_Missense_Mutation_p.Q510E|VAV1_ENST00000539284.1_Missense_Mutation_p.Q445E|VAV1_ENST00000599806.1_Missense_Mutation_p.Q487E|VAV1_ENST00000304076.2_Missense_Mutation_p.Q542E	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	542					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q542E(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TACCTTCTATCAGGGCTACCG	0.547																																						uc002mfu.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(1624-1626)CAG>GAG		vav 1 guanine nucleotide exchange factor							96.0	97.0	96.0					19																	6833552		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6833552C>G		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1624C>G	19.37:g.6833552C>G	ENSP00000472929:p.Gln542Glu					VAV1_uc010xjh.1_Missense_Mutation_p.Q510E|VAV1_uc010dva.1_Missense_Mutation_p.Q542E|VAV1_uc002mfv.1_Missense_Mutation_p.Q487E	p.Q542E	NM_005428	NP_005419	P15498	VAV_HUMAN			17	1721	+			542			Phorbol-ester/DAG-type.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1624C>G	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663460	0.47572	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.94280	-3.39;-3.39	4.73	4.73	0.59995	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.139951	0.49305	D	0.000145	D	0.97542	0.9195	H	0.96662	3.86	0.80722	D	1	P;P;D;D	0.63880	0.804;0.924;0.99;0.993	B;B;P;P	0.62813	0.185;0.446;0.907;0.824	D	0.98342	1.0539	10	0.52906	T	0.07	.	15.188	0.73020	0.0:1.0:0.0:0.0	.	445;542;487;542	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	E	542;445	ENSP00000302269:Q542E;ENSP00000443242:Q445E	ENSP00000302269:Q542E	Q	+	1	0	VAV1	6784552	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	6.977000	0.76141	2.199000	0.70637	0.491000	0.48974	CAG		0.547	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			20	95	0	0	0	0	20	95				
MYO1F	4542	broad.mit.edu	37	19	8587564	8587564	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:8587564C>T	ENST00000338257.8	-	26	3271	c.3004G>A	c.(3004-3006)Gag>Aag	p.E1002K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1002					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTGTTGTGCTCTGAGGGCGGA	0.687																																						uc002mkg.2		NA																	0				ovary(2)|skin(1)	3						c.(3004-3006)GAG>AAG		myosin IF							26.0	27.0	27.0					19																	8587564		1939	4133	6072	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8587564C>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.3004G>A	19.37:g.8587564C>T	ENSP00000344871:p.Glu1002Lys						p.E1002K	NM_012335	NP_036467	O00160	MYO1F_HUMAN			26	3118	-			1002					Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.3004G>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	2.559	-0.302333	0.05495	.	.	ENSG00000142347	ENST00000338257	D	0.86694	-2.16	5.48	4.43	0.53597	.	.	.	.	.	T	0.82162	0.4977	L	0.51422	1.61	0.28637	N	0.907384	B	0.20368	0.044	B	0.23275	0.045	T	0.66135	-0.5999	9	0.06757	T	0.87	.	13.5915	0.61964	0.0:0.7024:0.2976:0.0	.	1002	O00160	MYO1F_HUMAN	K	1002	ENSP00000344871:E1002K	ENSP00000344871:E1002K	E	-	1	0	MYO1F	8493564	0.579000	0.26725	0.875000	0.34327	0.125000	0.20455	1.224000	0.32539	1.301000	0.44836	-0.519000	0.04390	GAG		0.687	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			7	24	0	0	0	0	7	24				
ADAMTS10	81794	broad.mit.edu	37	19	8650504	8650504	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:8650504C>T	ENST00000597188.1	-	23	2971	c.2701G>A	c.(2701-2703)Gat>Aat	p.D901N	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.D901N|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.D388N|AC130469.2_ENST00000597256.1_RNA	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	901	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACGCCTGCATCGCAGCTGCGG	0.672																																						uc002mkj.1		NA																	0				pancreas(2)|skin(2)	4						c.(2701-2703)GAT>AAT		ADAM metallopeptidase with thrombospondin type 1							11.0	15.0	14.0					19																	8650504		2136	4150	6286	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8650504C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2701G>A	19.37:g.8650504C>T	ENSP00000471851:p.Asp901Asn					ADAMTS10_uc002mki.1_Missense_Mutation_p.D388N|ADAMTS10_uc002mkk.1_Missense_Mutation_p.D533N	p.D901N	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			23	2975	-			901			TSP type-1 3.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.2701G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970477	0.53614	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.60672	0.17	4.97	3.87	0.44632	.	0.060564	0.64402	U	0.000007	T	0.35770	0.0943	N	0.20357	0.565	0.44188	D	0.997005	B;B;B	0.29481	0.033;0.008;0.245	B;B;B	0.27380	0.045;0.021;0.079	T	0.34875	-0.9811	10	0.54805	T	0.06	.	3.6095	0.08055	0.0:0.6449:0.0:0.3551	.	655;901;388	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	N	901;655	ENSP00000270328:D901N	ENSP00000270328:D901N	D	-	1	0	ADAMTS10	8556504	1.000000	0.71417	0.932000	0.37286	0.877000	0.50540	4.519000	0.60517	2.301000	0.77427	0.455000	0.32223	GAT		0.672	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		7	13	0	0	0	0	7	13				
ZNF177	7730	broad.mit.edu	37	19	9492159	9492159	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:9492159G>C	ENST00000589262.1	+	6	1218	c.1152G>C	c.(1150-1152)aaG>aaC	p.K384N	ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000434737.2_Missense_Mutation_p.K384N|ZNF177_ENST00000602738.1_Missense_Mutation_p.K224N|ZNF177_ENST00000541595.2_Missense_Mutation_p.K224N|ZNF177_ENST00000343499.4_Missense_Mutation_p.K224N	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	384					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CATCCCTTAAGAAACACACAC	0.463																																						uc002mli.2		NA																	0				ovary(1)	1						c.(670-672)AAG>AAC		zinc finger protein 177							179.0	179.0	179.0					19																	9492159		2203	4300	6503	SO:0001583	missense	7730				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9492159G>C	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.1152G>C	19.37:g.9492159G>C	ENSP00000468531:p.Lys384Asn					ZNF177_uc002mlj.2_Missense_Mutation_p.K174N|ZNF177_uc002mlk.2_Missense_Mutation_p.K224N	p.K224N	NM_003451	NP_003442	Q13360	ZN177_HUMAN			12	1335	+			224			C2H2-type 4.		B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	c.672G>C	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440125	0.25900	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.07444	3.19;3.19;3.19	2.49	-0.463	0.12164	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09512	0.0234	L	0.52759	1.655	0.25020	N	0.991345	P;P	0.47841	0.901;0.818	P;B	0.49421	0.61;0.381	T	0.28618	-1.0038	8	0.16896	T	0.51	.	3.8997	0.09155	0.1359:0.0:0.3125:0.5516	.	384;224	B4DY57;Q13360	.;ZN177_HUMAN	N	224;224;384	ENSP00000445323:K224N;ENSP00000341497:K224N;ENSP00000415070:K384N	ENSP00000341497:K224N	K	+	3	2	ZNF177	9353159	0.000000	0.05858	0.236000	0.24074	0.909000	0.53808	-1.739000	0.01840	-0.043000	0.13513	0.563000	0.77884	AAG		0.463	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		16	131	0	0	0	0	16	131				
P2RY11	5032	broad.mit.edu	37	19	10226442	10226442	+	IGR	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:10226442G>T	ENST00000321826.4	+	0	1943				EIF3G_ENST00000253108.4_Missense_Mutation_p.T253N	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CTGCAGGTCGGTCTCACGCGT	0.632																																						uc002mnd.2		NA																	0					0						c.(757-759)ACC>AAC		eukaryotic translation initiation factor 3,							151.0	136.0	142.0					19																	10226442		2203	4300	6503	SO:0001628	intergenic_variant	8666					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr19:10226442G>T	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166		19.37:g.10226442G>T							p.T253N	NM_003755	NP_003746	O75821	EIF3G_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		9	822	-			253			RRM.		B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	c.758C>A	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258224	0.59321	.	.	ENSG00000130811	ENST00000253108	T	0.15487	2.42	4.43	3.36	0.38483	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.058764	0.64402	D	0.000003	T	0.07279	0.0184	N	0.03281	-0.365	0.58432	D	0.999999	P	0.35226	0.491	B	0.33846	0.171	T	0.36040	-0.9764	10	0.15952	T	0.53	-24.2454	13.1527	0.59498	0.0:0.1624:0.8376:0.0	.	253	O75821	EIF3G_HUMAN	N	253	ENSP00000253108:T253N	ENSP00000253108:T253N	T	-	2	0	EIF3G	10087442	1.000000	0.71417	0.982000	0.44146	0.939000	0.58152	7.134000	0.77268	1.034000	0.39945	0.561000	0.74099	ACC		0.632	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		17	57	1	0	2.94e-08	3.16e-08	17	57				
DNM2	1785	broad.mit.edu	37	19	10870479	10870479	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:10870479C>T	ENST00000355667.6	+	2	307	c.227C>T	c.(226-228)tCa>tTa	p.S76L	DNM2_ENST00000359692.6_Missense_Mutation_p.S76L|DNM2_ENST00000585892.1_Missense_Mutation_p.S76L|DNM2_ENST00000408974.4_Missense_Mutation_p.S76L|DNM2_ENST00000314646.5_Missense_Mutation_p.S76L|DNM2_ENST00000389253.4_Missense_Mutation_p.S76L	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	76	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTCATCTTCTCAAAAACAGGT	0.577			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1		NA		Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(226-228)TCA>TTA		dynamin 2 isoform 2							108.0	115.0	112.0					19																	10870479		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10870479C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.227C>T	19.37:g.10870479C>T	ENSP00000347890:p.Ser76Leu					DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.S76L|DNM2_uc002mpv.1_Missense_Mutation_p.S76L|DNM2_uc002mpu.1_Missense_Mutation_p.S76L|DNM2_uc010dxl.1_Missense_Mutation_p.S76L	p.S76L	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		2	391	+			76					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.227C>T	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027873	0.54790	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25	5.19	5.19	0.71726	Dynamin, GTPase domain (2);	0.120404	0.56097	D	0.000032	D	0.97554	0.9199	M	0.69523	2.12	0.47214	D	0.999359	B;P;B;D	0.64830	0.1;0.508;0.031;0.994	B;B;B;P	0.58928	0.03;0.17;0.012;0.848	D	0.96859	0.9631	10	0.37606	T	0.19	-5.7331	14.5576	0.68113	0.0:1.0:0.0:0.0	.	76;76;76;76	A8K1B6;P50570-2;P50570;E9PEQ4	.;.;DYN2_HUMAN;.	L	65;76;76;76;76;76	ENSP00000386192:S76L;ENSP00000347890:S76L;ENSP00000352721:S76L;ENSP00000373905:S76L;ENSP00000313164:S76L	ENSP00000313164:S76L	S	+	2	0	DNM2	10731479	0.995000	0.38212	0.998000	0.56505	0.976000	0.68499	2.615000	0.46368	2.570000	0.86706	0.655000	0.94253	TCA		0.577	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		33	97	0	0	0	0	33	97				
YIPF2	78992	broad.mit.edu	37	19	11036435	11036435	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:11036435G>A	ENST00000586748.1	-	5	466	c.294C>T	c.(292-294)atC>atT	p.I98I	C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000253031.2_Silent_p.I98I|YIPF2_ENST00000590329.1_Silent_p.I98I			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	98						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GTGAGCCTTTGATCCGGTCCA	0.602																																						uc002mqb.2		NA																	0					0						c.(292-294)ATC>ATT		Yip1 domain family, member 2							75.0	63.0	67.0					19																	11036435		2202	4300	6502	SO:0001819	synonymous_variant	78992					integral to membrane|transport vesicle		g.chr19:11036435G>A	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.294C>T	19.37:g.11036435G>A						YIPF2_uc002mqc.2_Silent_p.I98I|C19orf52_uc002mqd.1_5'Flank	p.I98I	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN			5	418	-			98			Cytoplasmic (Potential).			Silent	SNP	ENST00000586748.1	37	c.294C>T	CCDS12251.1																																																																																				0.602	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		8	18	0	0	0	0	8	18				
ZNF136	7695	broad.mit.edu	37	19	12297854	12297854	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:12297854G>C	ENST00000343979.4	+	4	801	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	ZNF136_ENST00000398616.2_Missense_Mutation_p.E155Q	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	221					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TCACACTGGAGAGAAACCCTA	0.398																																						uc002mti.2		NA																	0				ovary(1)|pancreas(1)	2						c.(661-663)GAG>CAG		zinc finger protein 136							69.0	66.0	67.0					19																	12297854		2203	4300	6503	SO:0001583	missense	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12297854G>C	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.661G>C	19.37:g.12297854G>C	ENSP00000344162:p.Glu221Gln					ZNF136_uc010xmh.1_Missense_Mutation_p.E155Q	p.E221Q	NM_003437	NP_003428	P52737	ZN136_HUMAN			4	761	+			221						Missense_Mutation	SNP	ENST00000343979.4	37	c.661G>C	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046486	0.75846	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.25912	1.77;1.77	1.37	1.37	0.22104	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41351	0.1155	L	0.58354	1.805	0.33933	D	0.642348	D	0.71674	0.998	D	0.68353	0.957	T	0.54166	-0.8334	8	.	.	.	.	10.3758	0.44081	0.0:0.0:1.0:0.0	.	221	P52737	ZN136_HUMAN	Q	221;155	ENSP00000344162:E221Q;ENSP00000381617:E155Q	.	E	+	1	0	ZNF136	12158854	0.961000	0.32948	0.877000	0.34402	0.985000	0.73830	1.636000	0.37144	1.067000	0.40740	0.650000	0.86243	GAG		0.398	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		17	33	0	0	0	0	17	33				
ZNF44	51710	broad.mit.edu	37	19	12383859	12383859	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:12383859G>A	ENST00000356109.5	-	5	1473	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	ZNF44_ENST00000355684.5_Missense_Mutation_p.S404F	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TACACTAGGAGAATCAAAGGC	0.453																																						uc010xmj.1		NA																	0				ovary(1)	1						c.(1354-1356)TCT>TTT		zinc finger protein 44 isoform 1							64.0	66.0	65.0					19																	12383859		2203	4300	6503	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12383859G>A	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1355C>T	19.37:g.12383859G>A	ENSP00000348419:p.Ser452Phe					ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.S404F	p.S452F	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	1560	-		Renal(1328;0.157)	452			C2H2-type 10.		B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.1355C>T	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	G	1.764	-0.486143	0.04352	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.03580	3.88;3.88;3.88	0.955	-1.91	0.07641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02494	0.0076	L	0.48642	1.525	.	.	.	B;B	0.34399	0.001;0.452	B;B	0.26202	0.007;0.067	T	0.46541	-0.9184	8	0.10902	T	0.67	.	3.5728	0.07923	0.1947:0.0:0.4309:0.3743	.	452;404	P15621;F8W7T7	ZNF44_HUMAN;.	F	452;452;404;404	ENSP00000377008:S452F;ENSP00000348419:S452F;ENSP00000347910:S404F	ENSP00000347910:S404F	S	-	2	0	ZNF44	12244859	0.000000	0.05858	0.000000	0.03702	0.762000	0.43233	-4.609000	0.00209	-0.883000	0.03982	0.305000	0.20034	TCT		0.453	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		10	42	0	0	0	0	10	42				
HOOK2	29911	broad.mit.edu	37	19	12883482	12883482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:12883482C>G	ENST00000397668.3	-	6	474	c.401G>C	c.(400-402)aGa>aCa	p.R134T	HOOK2_ENST00000264827.5_Missense_Mutation_p.R134T|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	134	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.R134I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CGTCATGATTCTCTGGATGTG	0.582																																						uc002muy.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|breast(1)|skin(1)	3						c.(400-402)AGA>ACA		hook homolog 2 isoform 1							172.0	163.0	166.0					19																	12883482		1949	4136	6085	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12883482C>G	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.401G>C	19.37:g.12883482C>G	ENSP00000380785:p.Arg134Thr					HOOK2_uc002muz.2_Missense_Mutation_p.R134T	p.R134T	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN			6	572	-			134			Sufficient for interaction with microtubules.|Required for localization to the centrosome and induction of aggresome formation.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.401G>C	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935283	0.34189	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.17213	2.29;2.29	4.12	4.12	0.48240	.	0.079249	0.53938	D	0.000057	T	0.17662	0.0424	L	0.47078	1.49	0.26360	N	0.977053	D;D	0.54601	0.96;0.967	P;P	0.50082	0.497;0.63	T	0.07290	-1.0780	10	0.14252	T	0.57	-8.7283	6.8041	0.23768	0.0:0.7922:0.0:0.2077	.	134;134	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	T	134	ENSP00000380785:R134T;ENSP00000264827:R134T	ENSP00000264827:R134T	R	-	2	0	HOOK2	12744482	0.460000	0.25776	1.000000	0.80357	0.953000	0.61014	0.853000	0.27777	1.996000	0.58369	0.455000	0.32223	AGA		0.582	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		13	125	0	0	0	0	13	125				
CACNA1A	773	broad.mit.edu	37	19	13356019	13356019	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:13356019C>T	ENST00000360228.5	-	31	4926	c.4927G>A	c.(4927-4929)Gat>Aat	p.D1643N	CACNA1A_ENST00000573710.2_Missense_Mutation_p.D1644N|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1644					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ACGAGGATATCGGTGATGCTG	0.582																																						uc010dze.2		NA																	0				large_intestine(2)	2						c.(4930-4932)GAT>AAT		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						103.0	105.0	104.0					19																	13356019		2010	4162	6172	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13356019C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4927G>A	19.37:g.13356019C>T	ENSP00000353362:p.Asp1643Asn					CACNA1A_uc010xnd.1_Missense_Mutation_p.D349N|CACNA1A_uc002mwx.3_Missense_Mutation_p.D349N|CACNA1A_uc010dzc.2_Missense_Mutation_p.D1169N|CACNA1A_uc002mwy.3_Missense_Mutation_p.D1643N|CACNA1A_uc010xne.1_Missense_Mutation_p.D1172N|CACNA1A_uc002mwv.3_Missense_Mutation_p.D160N	p.D1644N	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		31	5166	-			1644			Helical; Name=S3 of repeat IV; (Potential).|IV.		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.4930G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969112	0.74131	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.98633	-5.04	4.67	4.67	0.58626	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99278	0.9748	M	0.91768	3.24	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.997;0.944;0.999;0.998	D	0.98979	1.0804	10	0.87932	D	0	.	16.3534	0.83225	0.0:1.0:0.0:0.0	.	1644;1647;1643;1644	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	N	1643;1647;1644;1644;260	ENSP00000353362:D1643N	ENSP00000317661:D1644N	D	-	1	0	CACNA1A	13217019	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.780000	0.85658	2.140000	0.66376	0.462000	0.41574	GAT		0.582	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		18	38	0	0	0	0	18	38				
MYO9B	4650	broad.mit.edu	37	19	17311114	17311114	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:17311114G>C	ENST00000594824.1	+	25	4398	c.4251G>C	c.(4249-4251)aaG>aaC	p.K1417N	MYO9B_ENST00000397274.2_Missense_Mutation_p.K1417N|MYO9B_ENST00000595618.1_Missense_Mutation_p.K1417N			Q13459	MYO9B_HUMAN	myosin IXB	1417	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCACGTTTAAGAGGCTTTTTC	0.502																																						uc010eak.2		NA																	0				breast(1)	1						c.(4249-4251)AAG>AAC		myosin IXB isoform 1							42.0	43.0	43.0					19																	17311114		1946	4148	6094	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17311114G>C		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4251G>C	19.37:g.17311114G>C	ENSP00000471367:p.Lys1417Asn					MYO9B_uc002nfi.2_Missense_Mutation_p.K1417N|MYO9B_uc002nfj.1_Missense_Mutation_p.K1417N|MYO9B_uc002nfl.1_5'UTR	p.K1417N	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			25	4403	+			1417			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4251G>C		.	.	.	.	.	.	.	.	.	.	G	17.13	3.310213	0.60414	.	.	ENSG00000099331	ENST00000397274	D	0.85411	-1.98	4.76	-2.9	0.05648	.	0.429188	0.19801	N	0.105754	D	0.85230	0.5649	M	0.63843	1.955	0.26402	N	0.976404	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.59288	0.843;0.843;0.855	T	0.76937	-0.2774	10	0.72032	D	0.01	.	5.5665	0.17173	0.5282:0.1488:0.323:0.0	.	1417;1417;1423	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	N	1417	ENSP00000380444:K1417N	ENSP00000380444:K1417N	K	+	3	2	MYO9B	17172114	0.994000	0.37717	0.878000	0.34440	0.917000	0.54804	0.166000	0.16583	-0.180000	0.10637	0.491000	0.48974	AAG		0.502	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			4	22	0	0	0	0	4	22				
MAP1S	55201	broad.mit.edu	37	19	17835961	17835961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:17835961C>T	ENST00000324096.4	+	4	558	c.407C>T	c.(406-408)tCg>tTg	p.S136L	MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.S110L	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	136	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGGGGCTTCTCGCCTCACCAC	0.612																																						uc002nhe.1		NA																	0				central_nervous_system(1)	1						c.(406-408)TCG>TTG		BPY2 interacting protein 1							85.0	78.0	81.0					19																	17835961		2203	4300	6503	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17835961C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.407C>T	19.37:g.17835961C>T	ENSP00000325313:p.Ser136Leu					MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.S136L|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.S110L	p.S136L	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			4	416	+			136			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.407C>T	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169347	0.57584	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.03982	3.74;3.74	4.29	4.29	0.51040	.	0.000000	0.46145	D	0.000320	T	0.21307	0.0513	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	P;P;D	0.87578	0.856;0.856;0.998	T	0.00958	-1.1500	10	0.66056	D	0.02	-20.9386	14.2264	0.65863	0.0:1.0:0.0:0.0	.	110;136;136	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	L	136;110	ENSP00000325313:S136L;ENSP00000439243:S110L	ENSP00000325313:S136L	S	+	2	0	MAP1S	17696961	1.000000	0.71417	0.854000	0.33618	0.021000	0.10359	5.553000	0.67287	1.931000	0.55961	0.491000	0.48974	TCG		0.612	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		21	63	0	0	0	0	21	63				
ZNF43	7594	broad.mit.edu	37	19	21992317	21992317	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:21992317G>A	ENST00000354959.4	-	4	691	c.522C>T	c.(520-522)ttC>ttT	p.F174F	ZNF43_ENST00000598381.1_Silent_p.F168F|ZNF43_ENST00000594012.1_Silent_p.F168F|ZNF43_ENST00000595461.1_Silent_p.F168F	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	174					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTTTGCATTTGAAAAGTTTTT	0.303																																						uc002nqj.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(520-522)TTC>TTT		zinc finger protein 43							38.0	38.0	38.0					19																	21992317		2202	4297	6499	SO:0001819	synonymous_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21992317G>A	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.522C>T	19.37:g.21992317G>A						ZNF43_uc010ecv.2_Silent_p.F168F|ZNF43_uc002nql.2_Silent_p.F168F|ZNF43_uc002nqm.2_Silent_p.F168F|ZNF43_uc002nqk.2_Silent_p.F104F	p.F174F	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	652	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	174			C2H2-type 1.		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	c.522C>T	CCDS12413.2																																																																																				0.303	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		11	13	0	0	0	0	11	13				
ZNF208	7757	broad.mit.edu	37	19	22155770	22155770	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:22155770C>G	ENST00000397126.4	-	4	2214	c.2066G>C	c.(2065-2067)gGa>gCa	p.G689A	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	689					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTTCTCTCCAGTATGAAT	0.383																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(1765-1767)GGA>GCA		zinc finger protein 208							37.0	38.0	38.0					19																	22155770		1994	4188	6182	SO:0001583	missense	7757							g.chr19:22155770C>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2066G>C	19.37:g.22155770C>G	ENSP00000380315:p.Gly689Ala					ZNF208_uc002nqo.1_Intron	p.G589A	NM_007153	NP_009084					5	1915	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1766G>C	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	6.780	0.512884	0.12944	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.26373	1.74	2.43	-0.131	0.13494	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38401	0.1039	.	.	.	0.26737	N	0.970465	D	0.64830	0.994	D	0.63033	0.91	T	0.18808	-1.0325	8	0.62326	D	0.03	.	5.1865	0.15187	0.0:0.6464:0.2147:0.1389	.	589	O43345	ZN208_HUMAN	A	689;589	ENSP00000380315:G689A	ENSP00000380315:G689A	G	-	2	0	ZNF208	21947610	0.005000	0.15991	0.445000	0.26908	0.142000	0.21351	1.638000	0.37165	-0.006000	0.14370	0.280000	0.19369	GGA		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		12	42	0	0	0	0	12	42				
ZNF345	25850	broad.mit.edu	37	19	37368436	37368436	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:37368436G>C	ENST00000529555.1	+	2	1492	c.704G>C	c.(703-705)tGt>tCt	p.C235S	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.C235S|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.C235S			Q14585	ZN345_HUMAN	zinc finger protein 345	235					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCAAAGCATGTGGAATGGCC	0.418																																						uc002oex.2		NA																	0				ovary(1)	1						c.(703-705)TGT>TCT		zinc finger protein 345							81.0	77.0	79.0					19																	37368436		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368436G>C	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.704G>C	19.37:g.37368436G>C	ENSP00000431202:p.Cys235Ser					ZNF345_uc002oey.3_Missense_Mutation_p.C235S|ZNF345_uc002oez.2_Intron	p.C235S	NM_003419	NP_003410	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	1082	+	Esophageal squamous(110;0.183)		235			C2H2-type 7.			Missense_Mutation	SNP	ENST00000529555.1	37	c.704G>C	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794966	0.70452	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	D;D	0.85861	-2.04;-2.04	3.96	3.96	0.45880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92883	0.7736	M	0.88570	2.965	0.38292	D	0.942723	D	0.76494	0.999	D	0.83275	0.996	D	0.94953	0.8101	9	0.87932	D	0	.	13.8686	0.63603	0.0:0.0:1.0:0.0	.	235	Q14585	ZN345_HUMAN	S	235	ENSP00000431216:C235S;ENSP00000431202:C235S	ENSP00000431216:C235S	C	+	2	0	ZNF345	42060276	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	8.423000	0.90264	2.176000	0.68965	0.561000	0.74099	TGT		0.418	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			19	57	0	0	0	0	19	57				
DLL3	10683	broad.mit.edu	37	19	39989650	39989650	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:39989650G>A	ENST00000205143.4	+	1	43	c.36G>A	c.(34-36)caG>caA	p.Q12Q	DLL3_ENST00000356433.5_Silent_p.Q12Q|DLL3_ENST00000600579.1_3'UTR	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	12					compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCTCTCCCAGACTGTGATCC	0.617																																						uc002olx.2		NA																	0				central_nervous_system(2)|breast(1)	3						c.(34-36)CAG>CAA		delta-like 3 protein isoform 1 precursor							120.0	99.0	106.0					19																	39989650		2203	4300	6503	SO:0001819	synonymous_variant	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39989650G>A	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.36G>A	19.37:g.39989650G>A						DLL3_uc010egq.2_Silent_p.Q12Q|DLL3_uc002olw.2_Silent_p.Q12Q	p.Q12Q	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	94	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		12					E9PFG2|Q8NBS4	Silent	SNP	ENST00000205143.4	37	c.36G>A	CCDS12538.1																																																																																				0.617	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			22	79	0	0	0	0	22	79				
ERF	2077	broad.mit.edu	37	19	42753748	42753748	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:42753748G>A	ENST00000222329.4	-	4	673	c.516C>T	c.(514-516)ctC>ctT	p.L172L	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Silent_p.L97L	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	172					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CAGCCGAGAAGAGGGAAGATG	0.657																																						uc002ote.3		NA																	0				lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(514-516)CTC>CTT		Ets2 repressor factor							38.0	42.0	40.0					19																	42753748		2202	4300	6502	SO:0001819	synonymous_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753748G>A	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.516C>T	19.37:g.42753748G>A						ERF_uc002otd.3_5'UTR	p.L172L	NM_006494	NP_006485	P50548	ERF_HUMAN			4	674	-		Prostate(69;0.00682)	172					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Silent	SNP	ENST00000222329.4	37	c.516C>T	CCDS12600.1																																																																																				0.657	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		13	58	0	0	0	0	13	58				
MEGF8	1954	broad.mit.edu	37	19	42875617	42875617	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:42875617G>C	ENST00000251268.6	+	41	7252	c.7252G>C	c.(7252-7254)Gac>Cac	p.D2418H	MEGF8_ENST00000334370.4_Missense_Mutation_p.D2351H|MEGF8_ENST00000378073.4_Intron	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2418	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGACCGTCGAGACTGCTACAA	0.627																																						uc002otl.3		NA																	0				ovary(1)	1						c.(7051-7053)GAC>CAC		multiple EGF-like-domains 8							78.0	66.0	70.0					19																	42875617		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42875617G>C	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7252G>C	19.37:g.42875617G>C	ENSP00000251268:p.Asp2418His					MEGF8_uc002otm.3_Missense_Mutation_p.D1959H|MEGF8_uc002otn.3_Intron	p.D2351H	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			40	7686	+		Prostate(69;0.00682)	2418			Extracellular (Potential).|Laminin EGF-like 4.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.7051G>C		.	.	.	.	.	.	.	.	.	.	G	24.5	4.535327	0.85812	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.22134	1.97;1.97	4.91	4.91	0.64330	EGF-like, laminin (1);	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.956;0.982	T	0.02683	-1.1124	10	0.38643	T	0.18	-20.2752	17.7317	0.88379	0.0:0.0:1.0:0.0	.	2418;2351	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	2351;2418	ENSP00000334219:D2351H;ENSP00000251268:D2418H	ENSP00000251268:D2418H	D	+	1	0	MEGF8	47567457	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.480000	0.90434	2.659000	0.90383	0.561000	0.74099	GAC		0.627	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		9	44	0	0	0	0	9	44				
GYS1	2997	broad.mit.edu	37	19	49477904	49477904	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:49477904G>A	ENST00000323798.3	-	11	1591	c.1395C>T	c.(1393-1395)ctC>ctT	p.L465L	GYS1_ENST00000263276.6_Silent_p.L401L|GYS1_ENST00000541188.1_Silent_p.L385L|GYS1_ENST00000544287.1_Silent_p.L98L	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	465					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGCTATTGAAGAGGCCGATTC	0.617																																						uc002plp.2		NA																	0				ovary(2)	2						c.(1393-1395)CTC>CTT		glycogen synthase 1 (muscle) isoform 1							61.0	54.0	56.0					19																	49477904		2203	4300	6503	SO:0001819	synonymous_variant	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49477904G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1395C>T	19.37:g.49477904G>A						GYS1_uc010xzy.1_Silent_p.L98L|GYS1_uc010emm.2_Silent_p.L401L|GYS1_uc010xzz.1_Silent_p.L385L|GYS1_uc010yaa.1_RNA	p.L465L	NM_002103	NP_002094	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	11	1636	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	465					Q9BTT9	Silent	SNP	ENST00000323798.3	37	c.1395C>T	CCDS12747.1																																																																																				0.617	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		8	32	0	0	0	0	8	32				
ZNF175	7728	broad.mit.edu	37	19	52091027	52091027	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:52091027G>A	ENST00000262259.2	+	5	1801	c.1443G>A	c.(1441-1443)ggG>ggA	p.G481G	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	481					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		ACAACTGTGGGAAATCCTTCA	0.448																																						uc002pxb.2		NA																	0					0						c.(1441-1443)GGG>GGA		zinc finger protein 175							56.0	49.0	52.0					19																	52091027		2203	4300	6503	SO:0001819	synonymous_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52091027G>A	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1443G>A	19.37:g.52091027G>A							p.G481G	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1821	+		all_neural(266;0.0299)	481			C2H2-type 8.		A8K9H2	Silent	SNP	ENST00000262259.2	37	c.1443G>A	CCDS12837.1																																																																																				0.448	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		11	19	0	0	0	0	11	19				
LILRB4	11006	broad.mit.edu	37	19	55179456	55179456	+	Missense_Mutation	SNP	C	C	G	rs184098054		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:55179456C>G	ENST00000391736.1	+	14	1648	c.1333C>G	c.(1333-1335)Ctg>Gtg	p.L445V	LILRB4_ENST00000391734.3_Missense_Mutation_p.L392V|LILRB4_ENST00000430952.2_Missense_Mutation_p.L444V|LILRB4_ENST00000270452.2_Missense_Mutation_p.L445V|LILRB4_ENST00000391733.3_Missense_Mutation_p.L446V	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	445					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CTATGCCACTCTGGCCATCCA	0.597																																						uc002qgp.2		NA																	0				ovary(3)	3						c.(1333-1335)CTG>GTG		leukocyte immunoglobulin-like receptor,							61.0	63.0	62.0					19																	55179456		2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179456C>G	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1333C>G	19.37:g.55179456C>G	ENSP00000375616:p.Leu445Val					LILRB4_uc002qgq.2_Missense_Mutation_p.L444V|LILRB4_uc002qgr.2_Missense_Mutation_p.L487V|LILRB4_uc010ert.2_Missense_Mutation_p.L486V|LILRB4_uc010eru.2_Missense_Mutation_p.L475V	p.L445V	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	12	1695	+			445			ITIM motif 3.|Cytoplasmic (Potential).		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.1333C>G	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	c	3.130	-0.178712	0.06380	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.00560	6.6;6.6;6.6;6.64;6.61	2.07	-1.6	0.08426	.	.	.	.	.	T	0.01387	0.0045	M	0.77486	2.375	0.09310	N	1	D;D;B;B	0.71674	0.996;0.998;0.0;0.0	D;D;B;B	0.68621	0.91;0.959;0.003;0.003	T	0.46076	-0.9217	9	0.62326	D	0.03	.	2.6956	0.05134	0.0:0.3951:0.2574:0.3476	.	392;446;444;445	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	V	445;445;444;392;446	ENSP00000375616:L445V;ENSP00000270452:L445V;ENSP00000408995:L444V;ENSP00000375614:L392V;ENSP00000375613:L446V	ENSP00000270452:L445V	L	+	1	2	LILRB4	59871268	0.001000	0.12720	0.003000	0.11579	0.009000	0.06853	-0.021000	0.12504	-0.134000	0.11516	-0.484000	0.04775	CTG		0.597	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			15	59	0	0	0	0	15	59				
ZNF418	147686	broad.mit.edu	37	19	58439254	58439254	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr19:58439254C>T	ENST00000396147.1	-	4	586	c.295G>A	c.(295-297)Gat>Aat	p.D99N	ZNF418_ENST00000599852.1_Missense_Mutation_p.D14N|ZNF418_ENST00000595830.1_Missense_Mutation_p.D99N|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Missense_Mutation_p.D120N|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CCCTGATGATCTGCCAAGTGC	0.512																																						uc002qqs.1		NA																	0					0						c.(295-297)GAT>AAT		zinc finger protein 418							106.0	108.0	107.0					19																	58439254		2203	4300	6503	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58439254C>T	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.295G>A	19.37:g.58439254C>T	ENSP00000379451:p.Asp99Asn					ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.D14N	p.D99N	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	587	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	99			C2H2-type 1.		Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.295G>A	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	15.30	2.792114	0.50102	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.60040	0.22;0.22	1.83	0.712	0.18167	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.52451	0.1735	N	0.17800	0.525	0.09310	N	1	D	0.63880	0.993	D	0.70935	0.971	T	0.42396	-0.9454	9	0.19147	T	0.46	.	4.5617	0.12163	0.0:0.5109:0.0:0.4891	.	99	Q8TF45	ZN418_HUMAN	N	99;120;65	ENSP00000379451:D99N;ENSP00000407039:D120N	ENSP00000379451:D99N	D	-	1	0	ZNF418	63131066	0.001000	0.12720	0.002000	0.10522	0.656000	0.38851	0.383000	0.20651	0.310000	0.22990	0.305000	0.20034	GAT		0.512	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		21	92	0	0	0	0	21	92				
KIDINS220	57498	broad.mit.edu	37	2	8871880	8871880	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:8871880G>C	ENST00000256707.3	-	30	4467	c.4286C>G	c.(4285-4287)tCa>tGa	p.S1429*	KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.S1410*|KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.S1330*|KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.S1410*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1429					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCTAGGTTTGAATGAATAGA	0.463																																						uc002qzc.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(4285-4287)TCA>TGA		kinase D-interacting substrate of 220 kDa							148.0	140.0	143.0					2																	8871880		1857	4096	5953	SO:0001587	stop_gained	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8871880G>C	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4286C>G	2.37:g.8871880G>C	ENSP00000256707:p.Ser1429*					KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Nonsense_Mutation_p.S1330*|KIDINS220_uc002qzb.2_Nonsense_Mutation_p.S283*	p.S1429*	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			30	4468	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1429			Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Nonsense_Mutation	SNP	ENST00000256707.3	37	c.4286C>G	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	G	42	9.615350	0.99220	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	.	.	.	5.87	5.87	0.94306	.	0.176464	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2181	0.98305	0.0:0.0:1.0:0.0	.	.	.	.	X	1429;1410;1330;1410	.	ENSP00000256707:S1429X	S	-	2	0	KIDINS220	8789331	1.000000	0.71417	0.597000	0.28824	0.790000	0.44656	6.685000	0.74543	2.785000	0.95823	0.655000	0.94253	TCA		0.463	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		29	99	0	0	0	0	29	99				
NBAS	51594	broad.mit.edu	37	2	15415720	15415720	+	Missense_Mutation	SNP	G	G	A	rs372931827		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:15415720G>A	ENST00000281513.5	-	44	5637	c.5612C>T	c.(5611-5613)cCg>cTg	p.P1871L	NBAS_ENST00000441750.1_Missense_Mutation_p.P1751L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1871					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAGCCACTCCGGTGAAGAGCC	0.478																																						uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(5611-5613)CCG>CTG		neuroblastoma-amplified protein		G	LEU/PRO	0,4406		0,0,2203	99.0	96.0	97.0		5612	3.8	0.0	2		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	NBAS	NM_015909.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1871/2372	15415720	1,13005	2203	4300	6503	SO:0001583	missense	51594							g.chr2:15415720G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5612C>T	2.37:g.15415720G>A	ENSP00000281513:p.Pro1871Leu					NBAS_uc010exl.1_Missense_Mutation_p.P943L|NBAS_uc002rcd.1_RNA	p.P1871L	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			44	5638	-			1871					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5612C>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.73|10.73	1.431933|1.431933	0.25813|0.25813	0.0|0.0	1.16E-4|1.16E-4	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.09538|.	2.97;3.14|.	5.57|5.57	3.76|3.76	0.43208|0.43208	.|.	1.093750|.	0.06751|.	N|.	0.780087|.	T|T	0.36663|0.36663	0.0975|0.0975	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	D;B|.	0.54964|.	0.969;0.157|.	B;B|.	0.42062|.	0.374;0.023|.	T|T	0.19647|0.19647	-1.0299|-1.0299	10|5	0.87932|.	D|.	0|.	.|.	9.4391|9.4391	0.38657|0.38657	0.0688:0.0:0.6619:0.2693|0.0688:0.0:0.6619:0.2693	.|.	1751;1871|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	L|W	1751;1871|919	ENSP00000413201:P1751L;ENSP00000281513:P1871L|.	ENSP00000281513:P1871L|.	P|R	-|-	2|1	0|2	NBAS|NBAS	15333171|15333171	0.300000|0.300000	0.24435|0.24435	0.001000|0.001000	0.08648|0.08648	0.583000|0.583000	0.36354|0.36354	3.150000|3.150000	0.50662|0.50662	0.828000|0.828000	0.34709|0.34709	0.591000|0.591000	0.81541|0.81541	CCG|CGG		0.478	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		14	50	0	0	0	0	14	50				
KCNS3	3790	broad.mit.edu	37	2	18113476	18113476	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:18113476C>G	ENST00000403915.1	+	3	1652	c.1201C>G	c.(1201-1203)Ccc>Gcc	p.P401A	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.P401A	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	401					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTGGCCCTTCCCATCACCAT	0.517																																						uc002rcv.2		NA																	0				ovary(4)	4						c.(1201-1203)CCC>GCC		potassium voltage-gated channel							180.0	156.0	164.0					2																	18113476		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18113476C>G	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1201C>G	2.37:g.18113476C>G	ENSP00000385968:p.Pro401Ala					KCNS3_uc002rcw.2_Missense_Mutation_p.P401A	p.P401A	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN			3	1652	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		401			Helical; Name=Segment S6; (Potential).		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.1201C>G	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849482	0.51270	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.98493	-4.96;-4.96	5.86	4.98	0.66077	Ion transport (1);	0.048619	0.85682	D	0.000000	D	0.98375	0.9460	M	0.92507	3.315	0.80722	D	1	P	0.35328	0.495	B	0.38616	0.277	D	0.98715	1.0706	10	0.87932	D	0	.	16.4716	0.84113	0.1321:0.8679:0.0:0.0	.	401	Q9BQ31	KCNS3_HUMAN	A	401	ENSP00000385968:P401A;ENSP00000305824:P401A	ENSP00000305824:P401A	P	+	1	0	KCNS3	17976957	1.000000	0.71417	0.776000	0.31678	0.674000	0.39518	7.818000	0.86416	1.473000	0.48159	-0.169000	0.13324	CCC		0.517	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		20	48	0	0	0	0	20	48				
ASXL2	55252	broad.mit.edu	37	2	25965130	25965130	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:25965130G>A	ENST00000435504.4	-	13	4369	c.4076C>T	c.(4075-4077)tCa>tTa	p.S1359L	ASXL2_ENST00000336112.4_Missense_Mutation_p.S1331L|ASXL2_ENST00000404843.1_Missense_Mutation_p.S842L|ASXL2_ENST00000272341.4_Missense_Mutation_p.S842L			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1359					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGAAAATGACATGACATC	0.493																																						uc002rgs.2		NA																	0				pancreas(1)	1						c.(4075-4077)TCA>TTA		additional sex combs like 2							80.0	77.0	78.0					2																	25965130		2083	4210	6293	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25965130G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.4076C>T	2.37:g.25965130G>A	ENSP00000391447:p.Ser1359Leu					ASXL2_uc002rgt.1_Missense_Mutation_p.S842L	p.S1359L	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			12	4297	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1359					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.4076C>T		.	.	.	.	.	.	.	.	.	.	G	24.3	4.513641	0.85389	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.29655	1.61;1.61;1.56;1.56	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	M	0.72894	2.215	0.50313	D	0.999864	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.55611	-0.8114	10	0.59425	D	0.04	-15.1383	19.1206	0.93362	0.0:0.0:1.0:0.0	.	842;1359	Q76L83-2;Q76L83	.;ASXL2_HUMAN	L	1359;1331;842;842	ENSP00000391447:S1359L;ENSP00000337250:S1331L;ENSP00000383920:S842L;ENSP00000272341:S842L	ENSP00000272341:S842L	S	-	2	0	ASXL2	25818634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.411000	0.97342	2.861000	0.98227	0.655000	0.94253	TCA		0.493	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		9	21	0	0	0	0	9	21				
BIRC6	57448	broad.mit.edu	37	2	32605289	32605289	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:32605289C>T	ENST00000421745.2	+	3	710	c.576C>T	c.(574-576)ttC>ttT	p.F192F	BIRC6-AS1_ENST00000455572.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	192					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)					ATGATTTGTTCATCACACAGC	0.333																																					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.(574-576)TTC>TTT		baculoviral IAP repeat-containing 6							51.0	50.0	50.0					2																	32605289		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.chr2:32605289C>T	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.576C>T	2.37:g.32605289C>T							p.F192F	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			3	710	+	Acute lymphoblastic leukemia(172;0.155)		192					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.576C>T	CCDS33175.2																																																																																				0.333	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		3	10	0	0	0	0	3	10				
VIT	5212	broad.mit.edu	37	2	37028511	37028511	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:37028511G>C	ENST00000389975.3	+	12	1383	c.1081G>C	c.(1081-1083)Gag>Cag	p.E361Q	VIT_ENST00000401530.1_Missense_Mutation_p.E340Q|VIT_ENST00000404084.1_Missense_Mutation_p.E313Q|VIT_ENST00000497382.1_Missense_Mutation_p.E30Q|VIT_ENST00000379242.3_Missense_Mutation_p.E376Q|VIT_ENST00000379241.3_Missense_Mutation_p.E339Q	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	361	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GACAGCCATAGAGAAAATTAC	0.393																																						uc002rpl.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1126-1128)GAG>CAG		vitrin							146.0	148.0	148.0					2																	37028511		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37028511G>C	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1081G>C	2.37:g.37028511G>C	ENSP00000374625:p.Glu361Gln					VIT_uc002rpm.2_Missense_Mutation_p.E354Q|VIT_uc010ezv.2_Missense_Mutation_p.E332Q|VIT_uc010ezw.2_Missense_Mutation_p.E333Q	p.E376Q	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			13	1347	+		all_hematologic(82;0.248)	361			VWFA 1.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1126G>C	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192003	0.78902	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.53857	0.6;0.6;1.25;0.6;0.6;1.25	5.66	4.78	0.61160	von Willebrand factor, type A (3);	0.158574	0.56097	D	0.000039	T	0.57858	0.2082	L	0.28458	0.855	0.51012	D	0.999906	D;D;D;D	0.67145	0.996;0.976;0.996;0.993	P;P;P;P	0.62491	0.903;0.843;0.903;0.888	T	0.58446	-0.7635	10	0.42905	T	0.14	-22.7984	14.4463	0.67352	0.0704:0.0:0.9296:0.0	.	340;339;361;376	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	Q	376;361;30;313;339;340	ENSP00000368544:E376Q;ENSP00000374625:E361Q;ENSP00000417874:E30Q;ENSP00000384154:E313Q;ENSP00000368543:E339Q;ENSP00000385658:E340Q	ENSP00000368543:E339Q	E	+	1	0	VIT	36882015	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.053000	0.76641	1.401000	0.46761	0.655000	0.94253	GAG		0.393	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				39	106	0	0	0	0	39	106				
CCDC88A	55704	broad.mit.edu	37	2	55561259	55561259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:55561259C>T	ENST00000436346.1	-	15	3539	c.2698G>A	c.(2698-2700)Gat>Aat	p.D900N	AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D900N|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D900N|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.D900N	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	900					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTTTTTATATCAATAGTTGCT	0.279																																						uc002ryv.2		NA																	0				ovary(2)|skin(2)	4						c.(2698-2700)GAT>AAT		coiled-coil domain containing 88A isoform 1							43.0	48.0	46.0					2																	55561259		2200	4288	6488	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55561259C>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2698G>A	2.37:g.55561259C>T	ENSP00000410608:p.Asp900Asn					CCDC88A_uc010yoz.1_Missense_Mutation_p.D900N|CCDC88A_uc010ypa.1_Missense_Mutation_p.D900N|CCDC88A_uc010ypb.1_Missense_Mutation_p.D802N|CCDC88A_uc002ryu.2_Missense_Mutation_p.D183N|CCDC88A_uc002ryw.2_Missense_Mutation_p.D183N	p.D900N	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			15	3540	-			900			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.2698G>A		.	.	.	.	.	.	.	.	.	.	C	23.7	4.445661	0.84101	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000426576	T;T;T;T;T	0.36157	2.33;2.59;2.54;2.35;1.27	5.47	5.47	0.80525	.	0.000000	0.49305	U	0.000147	T	0.55130	0.1901	L	0.51422	1.61	0.80722	D	1	P;D;P;D;D	0.89917	0.931;0.998;0.931;1.0;1.0	P;D;P;D;D	0.91635	0.566;0.995;0.566;0.999;0.998	T	0.37753	-0.9692	10	0.21540	T	0.41	-22.3227	19.6975	0.96031	0.0:1.0:0.0:0.0	.	900;900;900;900;900	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	N	900;900;900;900;75	ENSP00000338728:D900N;ENSP00000263630:D900N;ENSP00000410608:D900N;ENSP00000404431:D900N;ENSP00000405080:D75N	ENSP00000263630:D900N	D	-	1	0	CCDC88A	55414763	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.636000	0.83301	2.729000	0.93468	0.557000	0.71058	GAT		0.279	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		10	27	0	0	0	0	10	27				
KIAA1841	84542	broad.mit.edu	37	2	61300626	61300626	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:61300626C>G	ENST00000402291.1	+	5	612	c.371C>G	c.(370-372)tCt>tGt	p.S124C	KIAA1841_ENST00000295031.5_Missense_Mutation_p.S124C|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S124C|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Missense_Mutation_p.S124C	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	124										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AGGAATTGTTCTTCAGAAAGT	0.353																																						uc002saw.3		NA																	0					0						c.(370-372)TCT>TGT		KIAA1841 protein isoform a							78.0	83.0	81.0					2																	61300626		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61300626C>G	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.371C>G	2.37:g.61300626C>G	ENSP00000385579:p.Ser124Cys					KIAA1841_uc002sax.3_Intron|KIAA1841_uc002say.2_Missense_Mutation_p.S124C|KIAA1841_uc002sav.3_Missense_Mutation_p.S124C	p.S124C	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		5	674	+			124					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.371C>G	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567985	0.86439	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	6.08	6.08	0.98989	.	0.399851	0.29034	N	0.013347	T	0.65354	0.2683	L	0.29908	0.895	0.46823	D	0.999215	D;D;D	0.76494	0.999;0.998;0.997	P;P;P	0.61722	0.893;0.747;0.818	T	0.64829	-0.6315	9	0.54805	T	0.06	-18.9736	18.8526	0.92238	0.0:1.0:0.0:0.0	.	124;124;124	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	C	124	.	ENSP00000295031:S124C	S	+	2	0	KIAA1841	61154130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.013000	0.64023	2.894000	0.99253	0.591000	0.81541	TCT		0.353	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		10	35	0	0	0	0	10	35				
ARHGAP25	9938	broad.mit.edu	37	2	69045102	69045102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:69045102G>A	ENST00000295381.3	+	8	1395	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E287K|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E20K|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E327K|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E320K|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E319K|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.E320K	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	326	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTCGAAGGTCGAAGACCCTGC	0.468																																						uc002seu.2		NA																	0				ovary(2)|breast(2)	4						c.(976-978)GAA>AAA		Rho GTPase activating protein 25 isoform a							155.0	143.0	147.0					2																	69045102		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69045102G>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.976G>A	2.37:g.69045102G>A	ENSP00000295381:p.Glu326Lys					ARHGAP25_uc010fdg.2_Missense_Mutation_p.E327K|ARHGAP25_uc010yql.1_Missense_Mutation_p.E287K|ARHGAP25_uc002sev.2_Missense_Mutation_p.E320K|ARHGAP25_uc002sew.2_Missense_Mutation_p.E319K|ARHGAP25_uc002sex.2_Missense_Mutation_p.E320K|ARHGAP25_uc010fdh.1_RNA|ARHGAP25_uc002sey.2_Missense_Mutation_p.E53K	p.E326K	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			8	1340	+			326			Rho-GAP.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.976G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.662283	0.96734	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844	T;T;T;T;T;T;T	0.23348	2.53;2.73;2.73;2.53;2.73;2.73;1.91	5.32	5.32	0.75619	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	M	0.87381	2.88	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.996;0.998;0.998;0.999;0.994;0.993	T	0.62909	-0.6754	10	0.56958	D	0.05	.	18.1728	0.89752	0.0:0.0:1.0:0.0	.	287;327;320;319;320;326	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;RHG25_HUMAN	K	326;327;287;319;320;320;320;311;20	ENSP00000295381:E326K;ENSP00000386911:E327K;ENSP00000420583:E287K;ENSP00000386863:E319K;ENSP00000386241:E320K;ENSP00000417139:E320K;ENSP00000417467:E20K	ENSP00000295381:E326K	E	+	1	0	ARHGAP25	68898606	1.000000	0.71417	0.960000	0.40013	0.956000	0.61745	9.082000	0.94059	2.777000	0.95525	0.650000	0.86243	GAA		0.468	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		15	36	0	0	0	0	15	36				
HTRA2	27429	broad.mit.edu	37	2	74757145	74757145	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:74757145G>A	ENST00000258080.3	+	1	642	c.12G>A	c.(10-12)ccG>ccA	p.P4P	AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Silent_p.P4P|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	4					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)	p.P4P(2)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TGGCTGCGCCGAGGGCGGGGC	0.741																																						uc002smi.1		NA																	2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)	ovary(1)	1						c.(10-12)CCG>CCA		HtrA serine peptidase 2 isoform 1 preproprotein							16.0	22.0	20.0					2																	74757145		1713	3678	5391	SO:0001819	synonymous_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757145G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.12G>A	2.37:g.74757145G>A						AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Silent_p.P4P|HTRA2_uc002smk.1_Silent_p.P4P|HTRA2_uc002sml.1_Silent_p.P4P|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	p.P4P	NM_013247	NP_037379	O43464	HTRA2_HUMAN			1	614	+			4					Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	ENST00000258080.3	37	c.12G>A	CCDS1951.1																																																																																				0.741	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		8	33	0	0	0	0	8	33				
HTRA2	27429	broad.mit.edu	37	2	74757169	74757169	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:74757169G>C	ENST00000258080.3	+	1	666	c.36G>C	c.(34-36)tgG>tgC	p.W12C	AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Missense_Mutation_p.W12C|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	12					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GTGCAGGCTGGAGCCTTCGGG	0.716																																						uc002smi.1		NA																	0				ovary(1)	1						c.(34-36)TGG>TGC		HtrA serine peptidase 2 isoform 1 preproprotein							16.0	22.0	20.0					2																	74757169		1904	3909	5813	SO:0001583	missense	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757169G>C		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.36G>C	2.37:g.74757169G>C	ENSP00000258080:p.Trp12Cys					AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.W12C|HTRA2_uc002smk.1_Missense_Mutation_p.W12C|HTRA2_uc002sml.1_Missense_Mutation_p.W12C|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	p.W12C	NM_013247	NP_037379	O43464	HTRA2_HUMAN			1	638	+			12					Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.36G>C	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	g	15.32	2.798907	0.50208	.	.	ENSG00000115317	ENST00000258080;ENST00000352222	T;T	0.15834	2.39;2.39	5.51	3.58	0.41010	.	0.425723	0.20877	N	0.084062	T	0.12263	0.0298	N	0.24115	0.695	0.46241	D	0.998943	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.10450	0.001;0.003;0.005;0.001	T	0.06267	-1.0836	10	0.87932	D	0	-3.2237	10.4635	0.44594	0.0:0.0:0.6461:0.3539	.	12;12;12;12	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	C	12	ENSP00000258080:W12C;ENSP00000312893:W12C	ENSP00000258080:W12C	W	+	3	0	HTRA2	74610677	0.149000	0.22717	1.000000	0.80357	0.744000	0.42396	0.320000	0.19540	1.302000	0.44855	0.450000	0.29827	TGG		0.716	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		10	39	0	0	0	0	10	39				
HK2	3099	broad.mit.edu	37	2	75100416	75100416	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:75100416C>G	ENST00000290573.2	+	5	1109	c.509C>G	c.(508-510)tCa>tGa	p.S170*	HK2_ENST00000409174.1_Nonsense_Mutation_p.S142*	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	170	Hexokinase type-1 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTCCTGGTCTCATGGACCAAG	0.522																																						uc002snd.2		NA																	0				ovary(1)|lung(1)	2						c.(508-510)TCA>TGA		hexokinase 2							117.0	122.0	120.0					2																	75100416		2203	4300	6503	SO:0001587	stop_gained	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75100416C>G		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.509C>G	2.37:g.75100416C>G	ENSP00000290573:p.Ser170*						p.S170*	NM_000189	NP_000180	P52789	HXK2_HUMAN			5	2435	+			170			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Nonsense_Mutation	SNP	ENST00000290573.2	37	c.509C>G	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	40	8.277416	0.98740	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	.	.	.	5.1	5.1	0.69264	.	0.319959	0.34268	N	0.004115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-5.145	11.294	0.49267	0.1817:0.8183:0.0:0.0	.	.	.	.	X	170;170;142	.	ENSP00000290573:S170X	S	+	2	0	HK2	74953924	0.077000	0.21312	0.841000	0.33234	0.836000	0.47400	2.982000	0.49337	2.802000	0.96397	0.561000	0.74099	TCA		0.522	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		17	94	0	0	0	0	17	94				
TMEM131	23505	broad.mit.edu	37	2	98409038	98409038	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:98409038C>G	ENST00000186436.5	-	31	4183	c.3955G>C	c.(3955-3957)Gaa>Caa	p.E1319Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1319	Pro-rich.					integral component of membrane (GO:0016021)		p.E1206Q(1)|p.E1206*(1)|p.E1319Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GACAGCCTTTCAGGCTGCGGC	0.677																																						uc002syh.3		NA																	3	Substitution - Missense(2)|Substitution - Nonsense(1)		cervix(2)|breast(1)	ovary(4)|central_nervous_system(2)	6						c.(3955-3957)GAA>CAA		RW1 protein							21.0	25.0	23.0					2																	98409038		2093	4223	6316	SO:0001583	missense	23505					integral to membrane		g.chr2:98409038C>G	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3955G>C	2.37:g.98409038C>G	ENSP00000186436:p.Glu1319Gln						p.E1319Q	NM_015348	NP_056163	Q92545	TM131_HUMAN			31	4184	-			1319			Pro-rich.			Missense_Mutation	SNP	ENST00000186436.5	37	c.3955G>C	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288090	0.40494	.	.	ENSG00000075568	ENST00000186436	T	0.24151	1.87	5.91	5.91	0.95273	.	0.562624	0.18838	N	0.129774	T	0.24812	0.0602	L	0.36672	1.1	0.80722	D	1	B	0.17465	0.022	B	0.14023	0.01	T	0.05131	-1.0904	10	0.21014	T	0.42	-2.0572	19.8936	0.96942	0.0:1.0:0.0:0.0	.	1319	Q92545	TM131_HUMAN	Q	1319	ENSP00000186436:E1319Q	ENSP00000186436:E1319Q	E	-	1	0	TMEM131	97775470	0.161000	0.22892	0.008000	0.14137	0.651000	0.38670	3.599000	0.54045	2.793000	0.96121	0.655000	0.94253	GAA		0.677	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		6	9	0	0	0	0	6	9				
CHST10	9486	broad.mit.edu	37	2	101010229	101010229	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:101010229G>C	ENST00000264249.3	-	7	934	c.549C>G	c.(547-549)ttC>ttG	p.F183L	CHST10_ENST00000542617.1_Missense_Mutation_p.F231L|CHST10_ENST00000409701.1_Missense_Mutation_p.F183L	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	183					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TAAAAAACTTGAAGTATGTTT	0.423																																						uc002tam.2		NA																	0				ovary(1)	1						c.(547-549)TTC>TTG		HNK-1 sulfotransferase							37.0	42.0	40.0					2																	101010229		2195	4296	6491	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101010229G>C	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.549C>G	2.37:g.101010229G>C	ENSP00000264249:p.Phe183Leu						p.F183L	NM_004854	NP_004845	O43529	CHSTA_HUMAN			7	908	-			183			Lumenal (Potential).		Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.549C>G	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456569	0.26161	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.74106	-0.81;-0.81;-0.81	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	L	0.28556	0.865	0.80722	D	1	P	0.44195	0.828	P	0.50314	0.637	T	0.63514	-0.6620	10	0.11182	T	0.66	-34.5996	14.7322	0.69391	0.0686:0.0:0.9314:0.0	.	183	O43529	CHSTA_HUMAN	L	183;231;183	ENSP00000264249:F183L;ENSP00000438869:F231L;ENSP00000387309:F183L	ENSP00000264249:F183L	F	-	3	2	CHST10	100376661	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.751000	0.47508	2.882000	0.98803	0.655000	0.94253	TTC		0.423	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		13	37	0	0	0	0	13	37				
SMPD4	55627	broad.mit.edu	37	2	130911298	130911298	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:130911298C>T	ENST00000409031.1	-	17	3135	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K	SMPD4_ENST00000351288.6_Missense_Mutation_p.E634K|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000443958.2_Missense_Mutation_p.E327K|SMPD4_ENST00000431183.2_Missense_Mutation_p.E561K|SMPD4_ENST00000426662.2_Missense_Mutation_p.E299K|SMPD4_ENST00000453750.1_Missense_Mutation_p.E412K|SMPD4_ENST00000339679.7_Missense_Mutation_p.E521K|SMPD4_ENST00000452225.2_Missense_Mutation_p.E404K	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	624					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CGCAGGTACTCCAGGGCCTTC	0.597																																						uc002tqq.1		NA																	0					0						c.(1987-1989)GAG>AAG		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						9.0	12.0	11.0					2																	130911298		2067	4165	6232	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130911298C>T	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1987G>A	2.37:g.130911298C>T	ENSP00000386531:p.Glu663Lys					SMPD4_uc002tqo.1_Missense_Mutation_p.E195K|SMPD4_uc002tqp.1_Missense_Mutation_p.E402K|SMPD4_uc010yzy.1_Missense_Mutation_p.E412K|SMPD4_uc010yzz.1_Missense_Mutation_p.E327K|SMPD4_uc002tqr.1_Missense_Mutation_p.E634K|SMPD4_uc002tqs.1_Missense_Mutation_p.E531K|SMPD4_uc002tqt.1_Missense_Mutation_p.E512K|SMPD4_uc010zaa.1_Missense_Mutation_p.E521K|SMPD4_uc010zab.1_Missense_Mutation_p.E561K|SMPD4_uc010zac.1_Missense_Mutation_p.E404K|SMPD4_uc010zad.1_Missense_Mutation_p.E299K	p.E663K	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			17	2507	-	Colorectal(110;0.1)		624					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.1987G>A	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.3|24.3	4.511021|4.511021	0.85389|0.85389	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000457039;ENST00000449159|ENST00000439886	.|.	.|.	.|.	3.91|3.91	3.91|3.91	0.45181|0.45181	.|.	0.222920|.	0.45126|.	D|.	0.000387|.	T|.	0.64193|.	0.2576|.	L|L	0.59436|0.59436	1.845|1.845	0.36600|0.36600	D|D	0.874637|0.874637	P;P;P;P;P;P;B;D;P;P|.	0.54772|.	0.95;0.887;0.481;0.835;0.782;0.925;0.346;0.968;0.604;0.488|.	P;P;B;B;B;B;B;P;B;B|.	0.54889|.	0.713;0.528;0.228;0.311;0.402;0.359;0.131;0.763;0.164;0.177|.	T|.	0.70073|.	-0.4972|.	9|.	0.62326|.	D|.	0.03|.	.|.	13.4569|13.4569	0.61204|0.61204	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	299;404;561;521;412;595;624;663;670;195|.	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5|.	.;.;.;.;.;.;NSMA3_HUMAN;.;.;.|.	K|X	634;663;561;412;327;521;404;299;260;173|537	.|.	ENSP00000339721:E521K|.	E|W	-|-	1|3	0|0	SMPD4|SMPD4	130627768|130627768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	6.928000|6.928000	0.75846|0.75846	1.714000|1.714000	0.51371|0.51371	0.549000|0.549000	0.68633|0.68633	GAG|TGG		0.597	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		6	45	0	0	0	0	6	45				
LRP1B	53353	broad.mit.edu	37	2	141259290	141259290	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:141259290G>A	ENST00000389484.3	-	55	9787	c.8816C>T	c.(8815-8817)tCt>tTt	p.S2939F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2939	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGTCTTGAGAACATCCACT	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8815-8817)TCT>TTT		low density lipoprotein-related protein 1B							117.0	121.0	120.0					2																	141259290		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141259290G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8816C>T	2.37:g.141259290G>A	ENSP00000374135:p.Ser2939Phe	TSP Lung(27;0.18)					p.S2939F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	55	9788	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2939			Extracellular (Potential).|EGF-like 6.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8816C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943289	0.92593	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87729	-2.29	5.41	5.41	0.78517	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.151595	0.44688	U	0.000432	D	0.92596	0.7648	M	0.92077	3.27	0.48511	D	0.999668	P	0.50710	0.938	P	0.47470	0.548	D	0.94144	0.7399	10	0.72032	D	0.01	.	19.5527	0.95328	0.0:0.0:1.0:0.0	.	2939	Q9NZR2	LRP1B_HUMAN	F	2939;2877	ENSP00000374135:S2939F	ENSP00000374135:S2939F	S	-	2	0	LRP1B	140975760	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.752000	0.98900	2.705000	0.92388	0.585000	0.79938	TCT		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	79	0	0	0	0	12	79				
CSRNP3	80034	broad.mit.edu	37	2	166533010	166533010	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:166533010G>T	ENST00000342316.4	+	4	869	c.597G>T	c.(595-597)aaG>aaT	p.K199N	CSRNP3_ENST00000409420.1_Missense_Mutation_p.K231N|CSRNP3_ENST00000314499.7_Missense_Mutation_p.K199N	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	199					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGGAAGAAAAGCACGAACTCC	0.522																																						uc002udf.2		NA																	0				ovary(3)|large_intestine(1)|skin(1)	5						c.(595-597)AAG>AAT		cysteine-serine-rich nuclear protein 3							105.0	106.0	105.0					2																	166533010		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166533010G>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.597G>T	2.37:g.166533010G>T	ENSP00000344042:p.Lys199Asn					CSRNP3_uc002udg.2_Missense_Mutation_p.K199N	p.K199N	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			6	973	+			199					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.597G>T	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775648	0.70107	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.77	0.257	0.15574	.	0.104852	0.64402	D	0.000005	T	0.40272	0.1110	M	0.83774	2.66	0.46131	D	0.998883	D	0.76494	0.999	D	0.83275	0.996	T	0.35525	-0.9785	10	0.72032	D	0.01	-24.6516	10.8865	0.46971	0.4489:0.0:0.5511:0.0	.	199	Q8WYN3	CSRN3_HUMAN	N	199;206;199;199;231	ENSP00000412081:K199N;ENSP00000318258:K199N;ENSP00000344042:K199N;ENSP00000387195:K231N	ENSP00000318258:K199N	K	+	3	2	CSRNP3	166241256	0.999000	0.42202	0.995000	0.50966	0.970000	0.65996	0.758000	0.26447	0.153000	0.19213	0.655000	0.94253	AAG		0.522	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		30	78	1	0	1.25e-16	1.36e-16	30	78				
HOXD10	3236	broad.mit.edu	37	2	176982029	176982029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:176982029G>C	ENST00000249501.4	+	1	723	c.468G>C	c.(466-468)caG>caC	p.Q156H	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	156					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GACTGAGTCAGACCTACGCCA	0.582																																						uc002ukj.2		NA																	0				ovary(1)	1						c.(466-468)CAG>CAC		homeobox D10							91.0	107.0	101.0					2																	176982029		2203	4300	6503	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176982029G>C		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.468G>C	2.37:g.176982029G>C	ENSP00000249501:p.Gln156His						p.Q156H	NM_002148	NP_002139	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	538	+			156					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.468G>C	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060311	0.55432	.	.	ENSG00000128710	ENST00000249501	T	0.35789	1.29	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.70631	0.3246	M	0.91300	3.195	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.75941	-0.3140	10	0.87932	D	0	.	20.4756	0.99175	0.0:0.0:1.0:0.0	.	156	P28358	HXD10_HUMAN	H	156	ENSP00000249501:Q156H	ENSP00000249501:Q156H	Q	+	3	2	HOXD10	176690275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.391000	0.79828	2.847000	0.97988	0.655000	0.94253	CAG		0.582	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			16	107	0	0	0	0	16	107				
STAT1	6772	broad.mit.edu	37	2	191859795	191859795	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:191859795G>C	ENST00000361099.3	-	10	1323	c.936C>G	c.(934-936)ctC>ctG	p.L312L	STAT1_ENST00000392323.2_Silent_p.L314L|STAT1_ENST00000392322.3_Silent_p.L312L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.L312L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	312					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			ACCTCTGAATGAGCTGCTGGA	0.388																																						uc002usj.2		NA																	0				lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(934-936)CTC>CTG		signal transducer and activator of transcription	Fludarabine(DB01073)						113.0	104.0	107.0					2																	191859795		2203	4300	6503	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191859795G>C		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.936C>G	2.37:g.191859795G>C						STAT1_uc010fse.1_Silent_p.L312L|STAT1_uc002usk.2_Silent_p.L312L|STAT1_uc002usl.2_Silent_p.L314L|STAT1_uc010fsf.1_Silent_p.L124L	p.L312L	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		10	1324	-			312					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.936C>G	CCDS2309.1																																																																																				0.388	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		7	44	0	0	0	0	7	44				
STAT1	6772	broad.mit.edu	37	2	191859849	191859849	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:191859849G>C	ENST00000361099.3	-	10	1269	c.882C>G	c.(880-882)atC>atG	p.I294M	STAT1_ENST00000392323.2_Missense_Mutation_p.I296M|STAT1_ENST00000392322.3_Missense_Mutation_p.I294M|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.I294M	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	294					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TGTTTTTTGTGATAGGGTCAT	0.438																																						uc002usj.2		NA																	0				lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(880-882)ATC>ATG		signal transducer and activator of transcription	Fludarabine(DB01073)						146.0	129.0	135.0					2																	191859849		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191859849G>C		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.882C>G	2.37:g.191859849G>C	ENSP00000354394:p.Ile294Met					STAT1_uc010fse.1_Missense_Mutation_p.I294M|STAT1_uc002usk.2_Missense_Mutation_p.I294M|STAT1_uc002usl.2_Missense_Mutation_p.I296M|STAT1_uc010fsf.1_Missense_Mutation_p.I106M	p.I294M	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		10	1270	-			294					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.882C>G	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130700	0.56828	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.66	2.84	0.33178	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	T	0.77356	0.4118	M	0.81942	2.565	0.80722	D	1	B;B	0.31227	0.314;0.212	P;D	0.64595	0.898;0.927	T	0.76075	-0.3092	10	0.56958	D	0.05	-17.9921	8.9901	0.36019	0.2906:0.0:0.7094:0.0	.	294;294	P42224-2;P42224	.;STAT1_HUMAN	M	294;294;294;296	ENSP00000354394:I294M;ENSP00000386244:I294M;ENSP00000376136:I294M;ENSP00000376137:I296M	ENSP00000354394:I294M	I	-	3	3	STAT1	191568094	1.000000	0.71417	0.977000	0.42913	0.717000	0.41224	2.082000	0.41605	0.724000	0.32296	0.557000	0.71058	ATC		0.438	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		7	49	0	0	0	0	7	49				
NBEAL1	65065	broad.mit.edu	37	2	204000956	204000956	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:204000956C>G	ENST00000449802.1	+	27	4616	c.4283C>G	c.(4282-4284)tCt>tGt	p.S1428C		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1428										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GATGACTTCTCTTTACTTGAA	0.363																																						uc002uzt.3		NA																	0				ovary(1)|skin(1)	2						c.(4282-4284)TCT>TGT		neurobeachin-like 1 isoform 3							63.0	59.0	60.0					2																	204000956		1868	4103	5971	SO:0001583	missense	65065						binding	g.chr2:204000956C>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4283C>G	2.37:g.204000956C>G	ENSP00000399903:p.Ser1428Cys					NBEAL1_uc002uzs.3_Missense_Mutation_p.S138C	p.S1428C	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			27	4616	+			1428					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.4283C>G	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108805	0.56398	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.58506	0.33	5.31	3.22	0.36961	.	0.245083	0.33327	U	0.005033	T	0.63850	0.2546	L	0.50333	1.59	0.53688	D	0.99997	D;D	0.71674	0.998;0.998	P;P	0.60173	0.87;0.87	T	0.65590	-0.6131	10	0.72032	D	0.01	.	9.5906	0.39543	0.0:0.8023:0.0:0.1977	.	1428;1417	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	C	1428	ENSP00000399903:S1428C	ENSP00000344985:S1428C	S	+	2	0	NBEAL1	203709201	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.162000	0.50755	1.130000	0.42092	0.655000	0.94253	TCT		0.363	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			11	40	0	0	0	0	11	40				
GLB1L	79411	broad.mit.edu	37	2	220102389	220102389	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:220102389G>C	ENST00000295759.7	-	16	1847	c.1534C>G	c.(1534-1536)Ctg>Gtg	p.L512V	GLB1L_ENST00000392089.2_Missense_Mutation_p.L512V|GLB1L_ENST00000409640.1_Missense_Mutation_p.L422V|GLB1L_ENST00000356283.3_Missense_Mutation_p.L422V|GLB1L_ENST00000497855.1_5'UTR			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	512					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAATTTTCAGAGGGAACATC	0.453																																						uc002vkm.2		NA																	0					0						c.(1534-1536)CTG>GTG		galactosidase, beta 1-like precursor							84.0	88.0	87.0					2																	220102389		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220102389G>C		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1534C>G	2.37:g.220102389G>C	ENSP00000295759:p.Leu512Val					GLB1L_uc002vkk.2_Missense_Mutation_p.L269V|GLB1L_uc010zkx.1_Missense_Mutation_p.L422V|GLB1L_uc002vkn.2_Missense_Mutation_p.L512V	p.L512V	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	1773	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	512					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.1534C>G	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953660	0.53293	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	5.09	5.09	0.68999	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.96531	0.8868	L	0.60845	1.875	0.58432	D	0.999998	D;P	0.76494	0.999;0.897	D;P	0.83275	0.996;0.566	D	0.96332	0.9244	10	0.51188	T	0.08	-9.3312	18.304	0.90174	0.0:0.0:1.0:0.0	.	422;512	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	V	512;422;512;422	ENSP00000295759:L512V;ENSP00000386354:L422V;ENSP00000375939:L512V;ENSP00000348628:L422V	ENSP00000295759:L512V	L	-	1	2	GLB1L	219810633	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.924000	0.48876	2.633000	0.89246	0.655000	0.94253	CTG		0.453	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		19	46	0	0	0	0	19	46				
STK16	8576	broad.mit.edu	37	2	220111834	220111834	+	Splice_Site	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:220111834G>C	ENST00000409638.3	+	4	478		c.e4-1		GLB1L_ENST00000392089.2_5'Flank|STK16_ENST00000409260.1_Splice_Site|STK16_ENST00000409743.1_Splice_Site|GLB1L_ENST00000295759.7_5'Flank|GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000396738.2_Splice_Site|STK16_ENST00000409516.3_Intron|STK16_ENST00000486813.1_Splice_Site	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16						cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGTTGCAGAGAGGTACGC	0.502																																					Pancreas(34;887 922 17165 36961 39622)	uc002vko.2		NA																	0				skin(1)	1						c.e4-1		serine/threonine kinase 16							67.0	71.0	70.0					2																	220111834		2013	4164	6177	SO:0001630	splice_region_variant	8576				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:220111834G>C	AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.307-1G>C	2.37:g.220111834G>C						GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Intron|STK16_uc010zky.1_Splice_Site_p.R103_splice|STK16_uc010fwf.2_Splice_Site_p.R103_splice|STK16_uc002vkp.2_Splice_Site_p.R103_splice|STK16_uc002vkr.2_Splice_Site_p.R36_splice|STK16_uc002vkq.2_Splice_Site_p.R148_splice	p.R103_splice	NM_001008910	NP_001008910	O75716	STK16_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	464	+		Renal(207;0.0474)						A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Splice_Site	SNP	ENST00000409638.3	37	c.307_splice	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852441	0.71719	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409260;ENST00000409743	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1434	0.93455	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STK16	219820078	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.471000	0.97696	2.527000	0.85204	0.655000	0.94253	.		0.502	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1		Intron	9	21	0	0	0	0	9	21				
IRS1	3667	broad.mit.edu	37	2	227660640	227660640	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:227660640C>T	ENST00000305123.5	-	1	3835	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	939					cellular response to insulin stimulus (GO:0032869)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ATGTACTCCTCAGTGCCAGTC	0.652																																						uc002voh.3		NA																	0				lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(2815-2817)GAG>AAG		insulin receptor substrate 1							59.0	69.0	65.0					2																	227660640		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660640C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2815G>A	2.37:g.227660640C>T	ENSP00000304895:p.Glu939Lys						p.E939K	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2867	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	939						Missense_Mutation	SNP	ENST00000305123.5	37	c.2815G>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794672	0.70452	.	.	ENSG00000169047	ENST00000305123	T	0.57273	0.41	5.31	5.31	0.75309	.	0.195410	0.30859	N	0.008721	T	0.44222	0.1283	N	0.14661	0.345	0.30391	N	0.780968	P	0.52842	0.956	P	0.47528	0.549	T	0.50874	-0.8776	10	0.59425	D	0.04	-16.0521	16.0085	0.80380	0.0:1.0:0.0:0.0	.	939	P35568	IRS1_HUMAN	K	939	ENSP00000304895:E939K	ENSP00000304895:E939K	E	-	1	0	IRS1	227368884	0.282000	0.24268	0.885000	0.34714	0.997000	0.91878	1.349000	0.33998	2.762000	0.94881	0.655000	0.94253	GAG		0.652	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		19	82	0	0	0	0	19	82				
GIGYF2	26058	broad.mit.edu	37	2	233710554	233710554	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:233710554G>A	ENST00000409547.1	+	28	3729	c.3418G>A	c.(3418-3420)Gaa>Aaa	p.E1140K	GIGYF2_ENST00000409196.3_Missense_Mutation_p.E1134K|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E1140K|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E1161K|GIGYF2_ENST00000373566.3_Missense_Mutation_p.E1162K|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E1162K	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1140					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCAGTGGTGTGAACAGATGCT	0.453																																						uc002vti.3		NA																	0				ovary(4)|central_nervous_system(3)	7						c.(3418-3420)GAA>AAA		GRB10 interacting GYF protein 2 isoform b							107.0	103.0	104.0					2																	233710554		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233710554G>A	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3418G>A	2.37:g.233710554G>A	ENSP00000386537:p.Glu1140Lys					GIGYF2_uc002vtj.3_Missense_Mutation_p.E1161K|GIGYF2_uc002vtk.3_Missense_Mutation_p.E1140K|GIGYF2_uc002vth.3_Missense_Mutation_p.E1134K|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc002vtq.3_Missense_Mutation_p.E473K	p.E1140K	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	28	3755	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1140					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.3418G>A	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380628	0.95945	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451	T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.83797	0.5332	L	0.53249	1.67	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.75020	0.985;0.985;0.985	T	0.81019	-0.1122	10	0.34782	T	0.22	-19.4402	19.843	0.96697	0.0:0.0:1.0:0.0	.	1161;1140;1134	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	K	1162;1140;1162;1140;1134;1161	ENSP00000362667:E1162K;ENSP00000362664:E1140K;ENSP00000386765:E1162K;ENSP00000386537:E1140K;ENSP00000387070:E1134K;ENSP00000387170:E1161K	ENSP00000362664:E1140K	E	+	1	0	GIGYF2	233418798	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.679000	0.91253	0.655000	0.94253	GAA		0.453	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		11	40	0	0	0	0	11	40				
INPP5D	3635	broad.mit.edu	37	2	234104054	234104054	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:234104054A>G	ENST00000359570.5	+	26	2570	c.2570A>G	c.(2569-2571)aAg>aGg	p.K857R	INPP5D_ENST00000455936.2_Missense_Mutation_p.K621R|INPP5D_ENST00000450745.1_Missense_Mutation_p.K621R			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	869					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GACTTTGTGAAGACGGAGCGT	0.562																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2605-2607)AAG>AGG		SH2 containing inositol phosphatase isoform a							77.0	77.0	77.0					2																	234104054		1957	4151	6108	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234104054A>G	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2570A>G	2.37:g.234104054A>G	ENSP00000352575:p.Lys857Arg					INPP5D_uc010zmp.1_Missense_Mutation_p.K868R	p.K869R	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	23	2759	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	869					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.2606A>G		.	.	.	.	.	.	.	.	.	.	A	13.19	2.163404	0.38217	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.96774	-4.06;-4.1;-4.1;-4.12;-4.12;-4.12	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.94473	0.8221	.	.	.	0.38215	D	0.940598	B;B	0.29232	0.238;0.153	B;B	0.33196	0.159;0.083	D	0.94056	0.7322	9	0.48119	T	0.1	.	13.1647	0.59565	1.0:0.0:0.0:0.0	.	868;869	Q92835-2;Q92835	.;SHIP1_HUMAN	R	857;621;621;490;490;490	ENSP00000352575:K857R;ENSP00000407916:K621R;ENSP00000404610:K621R;ENSP00000400151:K490R;ENSP00000397421:K490R;ENSP00000405338:K490R	ENSP00000352575:K857R	K	+	2	0	INPP5D	233768793	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	5.392000	0.66272	2.123000	0.65237	0.533000	0.62120	AAG		0.562	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		15	50	0	0	0	0	15	50				
TRPM8	79054	broad.mit.edu	37	2	234888876	234888876	+	Silent	SNP	G	G	T	rs201957891		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:234888876G>T	ENST00000324695.4	+	18	2440	c.2400G>T	c.(2398-2400)gtG>gtT	p.V800V	TRPM8_ENST00000433712.2_Silent_p.V378V	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	800					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGTGGAATGTGATGGACACGC	0.408																																						uc002vvh.2		NA																	0				skin(4)	4						c.(2398-2400)GTG>GTT		transient receptor potential cation channel,	Menthol(DB00825)						177.0	159.0	165.0					2																	234888876		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234888876G>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2400G>T	2.37:g.234888876G>T						TRPM8_uc010fyj.2_Silent_p.V378V|TRPM8_uc010fyk.2_5'Flank	p.V800V	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	18	2440	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	800			Helical; Name=4; (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.2400G>T	CCDS33407.1																																																																																				0.408	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		6	25	1	0	0.00198382	0.00204096	6	25				
HDLBP	3069	broad.mit.edu	37	2	242194963	242194963	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr2:242194963C>G	ENST00000391975.1	-	8	1133	c.906G>C	c.(904-906)gtG>gtC	p.V302V	HDLBP_ENST00000427183.2_Intron|HDLBP_ENST00000310931.4_Silent_p.V302V|HDLBP_ENST00000391976.2_Silent_p.V302V	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	302	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGGATTTCTTCACTTCCACTG	0.493																																						uc002waz.2		NA																	0				breast(3)|skin(1)	4						c.(904-906)GTG>GTC		high density lipoprotein binding protein							167.0	148.0	154.0					2																	242194963		2203	4300	6503	SO:0001819	synonymous_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242194963C>G		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.906G>C	2.37:g.242194963C>G						HDLBP_uc002wba.2_Silent_p.V302V|HDLBP_uc002wbb.2_Intron|HDLBP_uc010fzn.1_Intron	p.V302V	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	8	1134	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	302			KH 2.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	c.906G>C	CCDS2547.1																																																																																				0.493	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		20	74	0	0	0	0	20	74				
SIRPB1	10326	broad.mit.edu	37	20	1559329	1559329	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:1559329C>G	ENST00000381605.4	-	2	152	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.E30Q|SIRPB1_ENST00000381603.3_Missense_Mutation_p.E30Q|SIRPB1_ENST00000262929.5_Missense_Mutation_p.E29Q	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	30	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGCTCGTCCTCACCTGCCACT	0.507																																						uc010gai.2		NA																	0				ovary(1)	1						c.(88-90)GAG>CAG		signal-regulatory protein beta 1 isoform 1							73.0	69.0	71.0					20																	1559329		2198	4241	6439	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1559329C>G	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.88G>C	20.37:g.1559329C>G	ENSP00000371018:p.Glu30Gln					SIRPB1_uc002wfk.3_Missense_Mutation_p.E30Q	p.E30Q	NM_006065	NP_006056	O00241	SIRB1_HUMAN			2	187	-			30			Extracellular (Potential).|Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.88G>C	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	10.78	1.445611	0.25987	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.02345	4.33;4.64;4.7	2.36	-1.64	0.08318	Immunoglobulin-like (1);	1.347620	0.04680	N	0.412281	T	0.05593	0.0147	L	0.56396	1.775	0.09310	N	1	P;P	0.45986	0.87;0.712	B;P	0.48524	0.411;0.58	T	0.38045	-0.9679	10	0.32370	T	0.25	.	4.1853	0.10395	0.0:0.3514:0.4808:0.1678	.	30;30	O00241;O00241-2	SIRB1_HUMAN;.	Q	30;30;29	ENSP00000371018:E30Q;ENSP00000371016:E30Q;ENSP00000262929:E29Q	ENSP00000262929:E29Q	E	-	1	0	SIRPB1	1507329	0.002000	0.14202	0.001000	0.08648	0.013000	0.08279	-0.205000	0.09411	-0.072000	0.12864	0.462000	0.41574	GAG		0.507	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		7	93	0	0	0	0	7	93				
XKR7	343702	broad.mit.edu	37	20	30584822	30584822	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:30584822C>G	ENST00000562532.2	+	3	1476	c.1302C>G	c.(1300-1302)gtC>gtG	p.V434V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	434						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCATGTGTGTCTACTACTGTC	0.587																																						uc002wxe.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1300-1302)GTC>GTG		XK, Kell blood group complex subunit-related							98.0	94.0	96.0					20																	30584822		2203	4300	6503	SO:0001819	synonymous_variant	343702					integral to membrane		g.chr20:30584822C>G	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1302C>G	20.37:g.30584822C>G							p.V434V	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1476	+			434			Helical; (Potential).		Q9NUG5	Silent	SNP	ENST00000562532.2	37	c.1302C>G	CCDS33459.1																																																																																				0.587	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		15	46	0	0	0	0	15	46				
ASXL1	171023	broad.mit.edu	37	20	31022345	31022345	+	Silent	SNP	C	C	T	rs199829982		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:31022345C>T	ENST00000375687.4	+	13	2254	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_ENST00000306058.5_Silent_p.G605G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	610	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q592fs*5(1)|p.G610G(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NA		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		2	Deletion - Frameshift(1)|Substitution - coding silent(1)	p.Q592fs*5(1)|p.G610G(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(1828-1830)GGC>GGT		additional sex combs like 1 isoform 1		C		1,4405		0,1,2202	29.0	31.0	30.0		1830	-10.8	0.5	20		30	1,8599		0,1,4299	no	coding-synonymous	ASXL1	NM_015338.5		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		610/1542	31022345	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022345C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1830C>T	20.37:g.31022345C>T						ASXL1_uc010geb.2_Silent_p.G501G	p.G610G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	2256	+			610					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.1830C>T	CCDS13201.1																																																																																				0.632	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		8	31	0	0	0	0	8	31				
RPN2	6185	broad.mit.edu	37	20	35827507	35827508	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:35827507_35827508TC>AA	ENST00000237530.6	+	4	669_670	c.358_359TC>AA	c.(358-360)TCa>AAa	p.S120K	RPN2_ENST00000373622.5_Missense_Mutation_p.S88K	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	120					aging (GO:0007568)|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)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CAGTGAGGACTCATCTGTTACC	0.48																																						uc002xgp.2		NA																	0				ovary(2)|skin(1)	3						c.(358-360)TCA>AAA		ribophorin II isoform 1 precursor																																				SO:0001583	missense	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35827507_35827508TC>AA	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	Exception_encountered	20.37:g.35827507_35827508delinsAA	ENSP00000237530:p.Ser120Lys					RPN2_uc002xgo.3_Missense_Mutation_p.S120K|RPN2_uc010gfw.2_Intron|RPN2_uc002xgq.2_Missense_Mutation_p.S88K	p.S120K	NM_002951	NP_002942	P04844	RPN2_HUMAN			4	662_663	+		Myeloproliferative disorder(115;0.00878)	120			Lumenal (Potential).		Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	DNP	ENST00000237530.6	37	c.358_359TC>AA	CCDS13291.1																																																																																				0.480	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		22	69	0	0	0	0	22	69				
HNF4A	3172	broad.mit.edu	37	20	43047076	43047076	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:43047076C>T	ENST00000316099.4	+	6	749	c.660C>T	c.(658-660)ctC>ctT	p.L220L	HNF4A_ENST00000316673.4_Silent_p.L198L|HNF4A_ENST00000415691.2_Silent_p.L220L|HNF4A_ENST00000457232.1_Silent_p.L198L|HNF4A_ENST00000609795.1_Silent_p.L198L|HNF4A_ENST00000443598.2_Silent_p.L220L	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	220					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGGCCCTGCTCAGAGCCCATG	0.602																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(658-660)CTC>CTT		hepatocyte nuclear factor 4 alpha isoform b							136.0	119.0	125.0					20																	43047076		2203	4300	6503	SO:0001819	synonymous_variant	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43047076C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.660C>T	20.37:g.43047076C>T						HNF4A_uc002xlt.2_Silent_p.L198L|HNF4A_uc002xlu.2_Silent_p.L198L|HNF4A_uc002xlv.2_Silent_p.L198L|HNF4A_uc002xly.2_Silent_p.L220L|HNF4A_uc002xlz.2_Silent_p.L220L|HNF4A_uc010ggq.2_Silent_p.L213L	p.L220L	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	749	+		Myeloproliferative disorder(115;0.0122)	220					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	ENST00000316099.4	37	c.660C>T	CCDS13330.1																																																																																				0.602	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			25	84	0	0	0	0	25	84				
RIMS4	140730	broad.mit.edu	37	20	43379022	43379022	+	IGR	SNP	C	C	G	rs199534402		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:43379022C>G	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.S179W	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GTCGCCTTCTCGCACTTCGAG	0.677																																						uc002xmr.2		NA																	0					0						c.(535-537)TCG>TGG		potassium family, subfamily K, member 15							42.0	39.0	40.0					20																	43379022		2203	4300	6503	SO:0001628	intergenic_variant	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43379022C>G		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43379022C>G							p.S179W	NM_022358	NP_071753	Q9H427	KCNKF_HUMAN			2	600	+		Myeloproliferative disorder(115;0.0122)	179			Helical; (Potential).		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.536C>G	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265069	0.40095	.	.	ENSG00000124249	ENST00000372861	D	0.97455	-4.39	4.29	3.33	0.38152	Ion transport 2 (1);	0.150547	0.44483	U	0.000456	D	0.97470	0.9172	M	0.64676	1.99	0.80722	D	1	D	0.61080	0.989	P	0.62560	0.904	D	0.97590	1.0116	10	0.87932	D	0	.	13.4505	0.61167	0.1581:0.8419:0.0:0.0	.	179	Q9H427	KCNKF_HUMAN	W	179	ENSP00000361952:S179W	ENSP00000361952:S179W	S	+	2	0	KCNK15	42812436	1.000000	0.71417	0.987000	0.45799	0.006000	0.05464	7.568000	0.82369	0.990000	0.38787	-0.181000	0.13052	TCG		0.677	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		4	19	0	0	0	0	4	19				
ARFGEF2	10564	broad.mit.edu	37	20	47582443	47582443	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:47582443G>C	ENST00000371917.4	+	8	942	c.942G>C	c.(940-942)gaG>gaC	p.E314D		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	314					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAGAACCTGAGAGAGTTCTAG	0.473																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3		NA																	0				breast(3)|upper_aerodigestive_tract(1)	4						c.(940-942)GAG>GAC		ADP-ribosylation factor guanine							140.0	123.0	129.0					20																	47582443		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47582443G>C	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.942G>C	20.37:g.47582443G>C	ENSP00000360985:p.Glu314Asp						p.E314D	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		8	1094	+			314					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.942G>C	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	9.276	1.046940	0.19748	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.23348	1.91	5.77	2.78	0.32641	Armadillo-type fold (1);	0.426735	0.25461	N	0.030516	T	0.09555	0.0235	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.17098	0.017	T	0.29488	-1.0010	10	0.12430	T	0.62	.	3.2241	0.06726	0.167:0.4215:0.2952:0.1163	.	314	Q9Y6D5	BIG2_HUMAN	D	314	ENSP00000360985:E314D	ENSP00000360985:E314D	E	+	3	2	ARFGEF2	47015850	0.000000	0.05858	0.062000	0.19696	0.967000	0.64934	-0.044000	0.12023	0.780000	0.33566	0.462000	0.41574	GAG		0.473	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		14	67	0	0	0	0	14	67				
ADNP	23394	broad.mit.edu	37	20	49510683	49510683	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:49510683G>C	ENST00000396029.3	-	5	1135	c.568C>G	c.(568-570)Cag>Gag	p.Q190E	ADNP_ENST00000349014.3_Missense_Mutation_p.Q190E|ADNP_ENST00000371602.4_Missense_Mutation_p.Q190E|ADNP_ENST00000396032.3_Missense_Mutation_p.Q190E	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	190					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GCCACATGCTGAAAATGTTCC	0.448																																						uc002xvt.1		NA																	0				ovary(2)	2						c.(568-570)CAG>GAG		activity-dependent neuroprotector							153.0	147.0	149.0					20																	49510683		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49510683G>C	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.568C>G	20.37:g.49510683G>C	ENSP00000379346:p.Gln190Glu					ADNP_uc002xvu.1_Missense_Mutation_p.Q190E	p.Q190E	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN			5	913	-			190					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.568C>G	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821600	0.32237	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	6.08	6.08	0.98989	.	0.049325	0.85682	D	0.000000	T	0.68760	0.3036	L	0.46157	1.445	0.58432	D	0.999999	P	0.46656	0.882	B	0.42995	0.404	T	0.64136	-0.6478	10	0.23891	T	0.37	-1.718	20.6634	0.99662	0.0:0.0:1.0:0.0	.	190	Q9H2P0	ADNP_HUMAN	E	190	ENSP00000360662:Q190E;ENSP00000342905:Q190E;ENSP00000379346:Q190E;ENSP00000379349:Q190E	ENSP00000342905:Q190E	Q	-	1	0	ADNP	48944090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.459000	0.97638	2.894000	0.99253	0.655000	0.94253	CAG		0.448	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		24	82	0	0	0	0	24	82				
NFATC2	4773	broad.mit.edu	37	20	50049030	50049030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr20:50049030G>A	ENST00000396009.3	-	9	2515	c.2296C>T	c.(2296-2298)Cag>Tag	p.Q766*	NFATC2_ENST00000609943.1_Nonsense_Mutation_p.Q746*|NFATC2_ENST00000609507.1_Nonsense_Mutation_p.Q547*|NFATC2_ENST00000414705.1_Nonsense_Mutation_p.Q746*|NFATC2_ENST00000371564.3_Nonsense_Mutation_p.Q766*|NFATC2_ENST00000610033.1_Nonsense_Mutation_p.Q547*	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	766					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCCGGCTGCTGATAGCCCAGC	0.697																																						uc002xwd.2		NA																	0				ovary(2)	2						c.(2296-2298)CAG>TAG		nuclear factor of activated T-cells,							17.0	19.0	18.0					20																	50049030		2199	4297	6496	SO:0001587	stop_gained	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50049030G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2296C>T	20.37:g.50049030G>A	ENSP00000379330:p.Gln766*					NFATC2_uc002xwc.2_Nonsense_Mutation_p.Q766*|NFATC2_uc010zyv.1_Nonsense_Mutation_p.Q547*|NFATC2_uc010zyw.1_Nonsense_Mutation_p.Q547*|NFATC2_uc010zyx.1_Nonsense_Mutation_p.Q746*|NFATC2_uc010zyy.1_Nonsense_Mutation_p.Q547*|NFATC2_uc010zyz.1_Nonsense_Mutation_p.Q547*|NFATC2_uc002xwe.2_Nonsense_Mutation_p.Q746*	p.Q766*	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			9	2516	-	Hepatocellular(150;0.248)		766					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Nonsense_Mutation	SNP	ENST00000396009.3	37	c.2296C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	42	9.746856	0.99253	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.1806	19.296	0.94122	0.0:0.0:1.0:0.0	.	.	.	.	X	766;766;746	.	ENSP00000360619:Q766X	Q	-	1	0	NFATC2	49482437	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.752000	0.74898	2.563000	0.86464	0.650000	0.86243	CAG		0.697	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		5	18	0	0	0	0	5	18				
LIPI	149998	broad.mit.edu	37	21	15561416	15561416	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr21:15561416C>G	ENST00000536861.1	-	2	370	c.371G>C	c.(370-372)aGa>aCa	p.R124T	LIPI_ENST00000344577.2_Missense_Mutation_p.R145T			Q6XZB0	LIPI_HUMAN	lipase, member I	124					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTTAACTGCTCTATTATAAAT	0.338																																						uc002yjm.2		NA																	0				ovary(2)	2						c.(433-435)AGA>ACA		lipase, member I							40.0	43.0	42.0					21																	15561416		2203	4300	6503	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15561416C>G	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.371G>C	21.37:g.15561416C>G	ENSP00000440381:p.Arg124Thr					LIPI_uc010gkw.1_Missense_Mutation_p.R78T	p.R145T	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	2	444	-			124					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.434G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.43|10.43	1.346831|1.346831	0.24426|0.24426	.|.	.|.	ENSG00000188992|ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981|ENST00000400211	D;D|.	0.89939|.	-2.59;-2.59|.	5.29|5.29	4.39|4.39	0.52855|0.52855	.|.	0.511935|.	0.22892|.	N|.	0.054361|.	T|.	0.25975|.	0.0633|.	N|N	0.25286|0.25286	0.73|0.73	0.21386|0.21386	N|N	0.999708|0.999708	B;B|.	0.27416|.	0.178;0.113|.	B;B|.	0.29862|.	0.108;0.032|.	T|.	0.09952|.	-1.0651|.	10|.	0.15952|.	T|.	0.53|.	.|.	6.7011|6.7011	0.23225|0.23225	0.0:0.6908:0.1549:0.1543|0.0:0.6908:0.1549:0.1543	.|.	124;145|.	G1JSG6;Q6XZB0-2|.	.;.|.	T|Y	145;124;19|3	ENSP00000343331:R145T;ENSP00000440381:R124T|.	ENSP00000343331:R145T|.	R|X	-|-	2|3	0|2	LIPI|LIPI	14483287|14483287	0.009000|0.009000	0.17119|0.17119	0.987000|0.987000	0.45799|0.45799	0.353000|0.353000	0.29299|0.29299	-0.104000|-0.104000	0.10923|0.10923	2.644000|2.644000	0.89710|0.89710	0.650000|0.650000	0.86243|0.86243	AGA|TAG		0.338	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		5	43	0	0	0	0	5	43				
SUMO3	6612	broad.mit.edu	37	21	46226908	46226908	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr21:46226908C>T	ENST00000397898.3	-	4	402	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	SUMO3_ENST00000332859.6_Silent_p.T90T|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000411651.2_Silent_p.T128T|AL773604.8_ENST00000417820.1_RNA					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		GCACACCTCCCGTCTGCTGCT	0.612																																						uc002zfz.1		NA																	0					0						c.(268-270)ACG>ACA		small ubiquitin-like modifier protein 3							77.0	68.0	71.0					21																	46226908		2203	4300	6503	SO:0001583	missense	6612				protein sumoylation	cytoplasm|kinetochore	protein binding	g.chr21:46226908C>T		CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.320G>A	21.37:g.46226908C>T	ENSP00000380995:p.Arg107Gln					SUMO3_uc011afi.1_Silent_p.T128T|SUMO3_uc002zga.1_Missense_Mutation_p.R107Q	p.T90T	NM_006936	NP_008867	P55854	SUMO3_HUMAN		Colorectal(79;0.058)	4	431	-			90			Ubiquitin-like.			Silent	SNP	ENST00000397898.3	37	c.270G>A		.	.	.	.	.	.	.	.	.	.	c	8.553	0.875973	0.17395	.	.	ENSG00000184900	ENST00000397898	T	0.25414	1.8	5.52	-11.0	0.00169	.	.	.	.	.	T	0.12433	0.0302	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35748	-0.9776	8	0.52906	T	0.07	.	2.3738	0.04337	0.1498:0.2815:0.148:0.4207	.	107	A8MUA9	.	Q	107	ENSP00000380995:R107Q	ENSP00000380995:R107Q	R	-	2	0	SUMO3	45051336	0.003000	0.15002	0.004000	0.12327	0.440000	0.31957	-1.662000	0.01970	-3.280000	0.00197	-1.344000	0.01245	CGG		0.612	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000206561.1			10	35	0	0	0	0	10	35				
COL6A2	1292	broad.mit.edu	37	21	47546045	47546045	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr21:47546045C>G	ENST00000300527.4	+	26	2420	c.2316C>G	c.(2314-2316)ctC>ctG	p.L772L	COL6A2_ENST00000310645.5_Silent_p.L772L|COL6A2_ENST00000357838.4_Silent_p.L772L|COL6A2_ENST00000397763.1_Silent_p.L772L|COL6A2_ENST00000409416.1_Silent_p.L772L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	772	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GTGAAAACCTCTACTCCATCG	0.587																																						uc002zia.1		NA																	0				central_nervous_system(7)|ovary(1)	8						c.(2314-2316)CTC>CTG		alpha 2 type VI collagen isoform 2C2 precursor							199.0	194.0	196.0					21																	47546045		2203	4300	6503	SO:0001819	synonymous_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47546045C>G	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2316C>G	21.37:g.47546045C>G						COL6A2_uc002zhy.1_Silent_p.L772L|COL6A2_uc002zhz.1_Silent_p.L772L|COL6A2_uc002zib.1_Silent_p.L178L|COL6A2_uc002zic.1_5'Flank	p.L772L	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2398	+	Breast(49;0.245)		772			VWFA 2.|Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.2316C>G	CCDS13728.1																																																																																				0.587	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			48	143	0	0	0	0	48	143				
PI4KA	5297	broad.mit.edu	37	22	21104247	21104247	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:21104247C>T	ENST00000572273.1	-	28	3245	c.3015G>A	c.(3013-3015)atG>atA	p.M1005I	PI4KA_ENST00000255882.6_Missense_Mutation_p.M1063I			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1005					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCTGGAGGATCATCCCACAGC	0.527																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3		NA																	0				lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(3013-3015)ATG>ATA		phosphatidylinositol 4-kinase type 3 alpha							109.0	88.0	95.0					22																	21104247		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21104247C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3015G>A	22.37:g.21104247C>T	ENSP00000458238:p.Met1005Ile						p.M1005I	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		28	3246	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1005					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.3015G>A		.	.	.	.	.	.	.	.	.	.	C	15.71	2.915054	0.52546	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.98	4.98	0.66077	.	0.088102	0.85682	D	0.000000	T	0.57829	0.2080	L	0.36672	1.1	0.80722	D	1	B	0.20671	0.047	B	0.30179	0.112	T	0.54437	-0.8294	9	0.40728	T	0.16	-37.1379	18.4372	0.90650	0.0:1.0:0.0:0.0	.	1005	P42356	PI4KA_HUMAN	I	1005	.	ENSP00000255882:M1005I	M	-	3	0	PI4KA	19434247	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.755000	0.55197	2.600000	0.87896	0.655000	0.94253	ATG		0.527	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		8	30	0	0	0	0	8	30				
RAB36	9609	broad.mit.edu	37	22	23495243	23495243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:23495243G>A	ENST00000263116.2	+	5	489	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	RAB36_ENST00000341989.4_Missense_Mutation_p.R128Q	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	150					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GTTTTTGATCGAGACTACAAG	0.493																																						uc002zwv.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(448-450)CGA>CAA		RAB36, member RAS oncogene family							199.0	188.0	192.0					22																	23495243		2203	4300	6503	SO:0001583	missense	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23495243G>A	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.449G>A	22.37:g.23495243G>A	ENSP00000263116:p.Arg150Gln					RAB36_uc010gtw.1_Missense_Mutation_p.R128Q	p.R150Q	NM_004914	NP_004905	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	5	489	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		150					Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	ENST00000263116.2	37	c.449G>A	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117400	0.77323	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	T;T	0.76186	-1.0;-1.0	5.53	2.07	0.26955	Small GTP-binding protein domain (1);	0.231309	0.34628	N	0.003803	T	0.63768	0.2539	N	0.08118	0	0.34873	D	0.7438	D;P	0.67145	0.996;0.593	P;B	0.56398	0.797;0.153	T	0.68800	-0.5313	10	0.38643	T	0.18	-0.7736	9.2547	0.37575	0.2601:0.0:0.7399:0.0	.	128;150	O95755-2;O95755	.;RAB36_HUMAN	Q	150;128	ENSP00000263116:R150Q;ENSP00000343494:R128Q	ENSP00000263116:R150Q	R	+	2	0	RAB36	21825243	0.461000	0.25783	0.784000	0.31847	0.884000	0.51177	1.319000	0.33655	0.302000	0.22762	0.655000	0.94253	CGA		0.493	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914		23	97	0	0	0	0	23	97				
SPECC1L	23384	broad.mit.edu	37	22	24759250	24759250	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:24759250C>T	ENST00000314328.9	+	12	3050	c.2765C>T	c.(2764-2766)tCa>tTa	p.S922L	SPECC1L_ENST00000541492.1_Missense_Mutation_p.S922L|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S922L|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	922					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGAACATCTTCAGCCAGCCGG	0.413																																						uc002zzw.2		NA																	0					0						c.(2764-2766)TCA>TTA		cytospin A							106.0	103.0	104.0					22																	24759250		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24759250C>T	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.2765C>T	22.37:g.24759250C>T	ENSP00000325785:p.Ser922Leu					CYTSA_uc002zzv.3_Missense_Mutation_p.S922L|CYTSA_uc011ajq.1_Missense_Mutation_p.S922L	p.S922L	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN			12	3072	+			922					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.2765C>T	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	c	17.28	3.349502	0.61183	.	.	ENSG00000100014	ENST00000437398;ENST00000314328;ENST00000541492	T;T;T	0.61274	0.12;0.12;3.13	5.15	5.15	0.70609	.	0.131590	0.52532	D	0.000067	T	0.36110	0.0955	N	0.08118	0	0.58432	D	0.999995	P;B	0.42518	0.782;0.421	B;B	0.34590	0.186;0.054	T	0.37079	-0.9721	10	0.38643	T	0.18	-2.6405	16.6559	0.85228	0.0:1.0:0.0:0.0	.	922;922	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	L	922	ENSP00000393363:S922L;ENSP00000325785:S922L;ENSP00000439633:S922L	ENSP00000325785:S922L	S	+	2	0	SPECC1L	23089250	1.000000	0.71417	0.979000	0.43373	0.911000	0.54048	5.159000	0.64923	2.770000	0.95276	0.650000	0.86243	TCA		0.413	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		13	28	0	0	0	0	13	28				
OSM	5008	broad.mit.edu	37	22	30660370	30660370	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:30660370C>T	ENST00000215781.2	-	3	301	c.261G>A	c.(259-261)ctG>ctA	p.L87L	OSM_ENST00000403463.1_3'UTR|OSM_ENST00000403389.1_Silent_p.L66L	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	87					behavioral response to pain (GO:0048266)|cell proliferation (GO:0008283)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|peripheral nervous system development (GO:0007422)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|response to heat (GO:0009408)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	extracellular space (GO:0005615)|oncostatin-M receptor complex (GO:0005900)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|oncostatin-M receptor binding (GO:0005147)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			CCAGCCCCCTCAGGGTCTCCT	0.657																																						uc003ahb.2		NA																	0				skin(1)	1						c.(259-261)CTG>CTA		oncostatin M precursor							22.0	24.0	23.0					22																	30660370		2184	4240	6424	SO:0001819	synonymous_variant	5008				cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding	g.chr22:30660370C>T	AF129855	CCDS13873.1	22q12.2	2011-07-21			ENSG00000099985	ENSG00000099985			8506	protein-coding gene	gene with protein product		165095				1717982	Standard	NM_020530		Approved	MGC20461	uc003ahb.3	P13725	OTTHUMG00000150913	ENST00000215781.2:c.261G>A	22.37:g.30660370C>T							p.L87L	NM_020530	NP_065391	P13725	ONCM_HUMAN	Epithelial(10;0.206)		3	313	-			87					Q6FHP8|Q9UCP6	Silent	SNP	ENST00000215781.2	37	c.261G>A	CCDS13873.1																																																																																				0.657	OSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320512.1	NM_020530		8	18	0	0	0	0	8	18				
APOL1	8542	broad.mit.edu	37	22	36661869	36661869	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:36661869G>C	ENST00000397278.3	+	6	1216	c.987G>C	c.(985-987)atG>atC	p.M329I	APOL1_ENST00000319136.4_Missense_Mutation_p.M345I|APOL1_ENST00000422706.1_Missense_Mutation_p.M329I|APOL1_ENST00000426053.1_Missense_Mutation_p.M311I|APOL1_ENST00000397279.4_Missense_Mutation_p.M329I|APOL1_ENST00000347595.7_Missense_Mutation_p.M208I	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	329					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TCCTGGAAATGAGCAGAGGAG	0.542																																						uc003apf.2		NA																	0				breast(2)|ovary(1)	3						c.(985-987)ATG>ATC		apolipoprotein L1 isoform a precursor							83.0	72.0	75.0					22																	36661869		2203	4300	6503	SO:0001583	missense	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36661869G>C	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.987G>C	22.37:g.36661869G>C	ENSP00000380448:p.Met329Ile					APOL1_uc011amn.1_Missense_Mutation_p.M206I|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.M345I|APOL1_uc011amo.1_Missense_Mutation_p.M206I|APOL1_uc011amp.1_Missense_Mutation_p.M329I|APOL1_uc011amq.1_Missense_Mutation_p.M311I|APOL1_uc010gwx.2_Missense_Mutation_p.M206I	p.M329I	NM_003661	NP_003652	O14791	APOL1_HUMAN			6	1155	+			329					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	37	c.987G>C	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	g	6.031	0.374003	0.11409	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000347595;ENST00000397279	T;T;T;T;T;T	0.04049	3.72;3.72;3.72;3.72;3.72;3.72	3.18	1.04	0.20106	.	0.176724	0.50627	N	0.000108	T	0.05456	0.0144	M	0.64567	1.98	0.09310	N	1	B;B;B	0.14438	0.004;0.002;0.01	B;B;B	0.15870	0.014;0.007;0.008	T	0.31971	-0.9924	10	0.38643	T	0.18	.	5.3698	0.16132	0.2799:0.0:0.7201:0.0	.	311;329;345	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	I	329;329;311;345;208;329	ENSP00000380448:M329I;ENSP00000411507:M329I;ENSP00000388477:M311I;ENSP00000317674:M345I;ENSP00000216178:M208I;ENSP00000380449:M329I	ENSP00000317674:M345I	M	+	3	0	APOL1	34991815	0.015000	0.18098	0.001000	0.08648	0.001000	0.01503	0.713000	0.25794	0.098000	0.17522	-0.974000	0.02594	ATG		0.542	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		6	47	0	0	0	0	6	47				
EP300	2033	broad.mit.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		7	Substitution - Missense(7)	p.D1399Y(1)	lung(3)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)|cervix(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4195-4197)GAT>AAT		E1A binding protein p300							98.0	93.0	95.0					22																	41565529		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41565529G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4195G>A	22.37:g.41565529G>A	ENSP00000263253:p.Asp1399Asn						p.D1399N	NM_001429	NP_001420	Q09472	EP300_HUMAN			26	4590	+			1399	D->Y: Does not interact with TFAP2A and inhibits transcriptional coactivation of TFAP2A by CITED2. Does not inhibit interaction with CITED2, DNA-binding of TFAP2A or nuclear localization of TFAP2A or CITED2.				B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4195G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998529	0.93227	.	.	ENSG00000100393	ENST00000263253	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000275	D	0.99743	0.9898	H	0.96633	3.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97288	0.9922	10	0.87932	D	0	-10.979	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1399	Q09472	EP300_HUMAN	N	1399	ENSP00000263253:D1399N	ENSP00000263253:D1399N	D	+	1	0	EP300	39895475	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	GAT		0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		13	55	0	0	0	0	13	55				
PIM3	415116	broad.mit.edu	37	22	50356510	50356510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:50356510C>T	ENST00000360612.4	+	5	1225	c.790C>T	c.(790-792)Cca>Tca	p.P264S		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	264	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGGTCTCTCCAGGTGCGTG	0.682																																						uc003bjb.2		NA																	0					0						c.(790-792)CCA>TCA		serine/threonine protein kinase pim-3							38.0	40.0	39.0					22																	50356510		2203	4300	6503	SO:0001583	missense	415116				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:50356510C>T	BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"""pim-3 oncogene"""			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.790C>T	22.37:g.50356510C>T	ENSP00000353824:p.Pro264Ser					PIM3_uc011arj.1_Missense_Mutation_p.P27S	p.P264S	NM_001001852	NP_001001852	Q86V86	PIM3_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)	5	1243	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	264			Protein kinase.		A5D8X8|A8K7J0|B1B0P0|Q68BM2	Missense_Mutation	SNP	ENST00000360612.4	37	c.790C>T	CCDS33678.1	.	.	.	.	.	.	.	.	.	.	c	0.307	-0.970148	0.02232	.	.	ENSG00000198355	ENST00000360612	T	0.63744	-0.06	4.59	-0.372	0.12520	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.309004	0.30639	U	0.009182	T	0.42314	0.1197	L	0.37850	1.14	0.24263	N	0.995278	B	0.10296	0.003	B	0.13407	0.009	T	0.14783	-1.0460	10	0.18710	T	0.47	.	5.5806	0.17248	0.36:0.4723:0.0:0.1678	.	264	Q86V86	PIM3_HUMAN	S	264	ENSP00000353824:P264S	ENSP00000353824:P264S	P	+	1	0	PIM3	48742514	0.014000	0.17966	0.827000	0.32855	0.007000	0.05969	0.138000	0.16016	0.174000	0.19809	-0.198000	0.12761	CCA		0.682	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317406.1	NM_001001852		8	25	0	0	0	0	8	25				
TUBGCP6	85378	broad.mit.edu	37	22	50656779	50656779	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:50656779G>C	ENST00000248846.5	-	23	5111	c.5007C>G	c.(5005-5007)ttC>ttG	p.F1669L	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1669					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTCGTGCTTGAACAGCTGCA	0.632																																						uc003bkb.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(5005-5007)TTC>TTG		tubulin, gamma complex associated protein 6							49.0	45.0	47.0					22																	50656779		2202	4295	6497	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50656779G>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.5007C>G	22.37:g.50656779G>C	ENSP00000248846:p.Phe1669Leu					TUBGCP6_uc003bka.1_Missense_Mutation_p.Q746E|TUBGCP6_uc010har.1_Missense_Mutation_p.F1661L|TUBGCP6_uc010has.1_RNA	p.F1669L	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	23	5519	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1669					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.5007C>G	CCDS14087.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.582|2.582	-0.297155|-0.297155	0.05532|0.05532	.|.	.|.	ENSG00000128159|ENSG00000128159	ENST00000248846|ENST00000425018	T|T	0.03920|0.23348	3.76|1.91	4.83|4.83	-0.448|-0.448	0.12230|0.12230	.|.	0.181366|.	0.49305|.	D|.	0.000146|.	T|T	0.21761|0.21761	0.0524|0.0524	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D;D|.	0.56968|.	0.978;0.964|.	P;P|.	0.53006|.	0.715;0.625|.	T|T	0.16424|0.16424	-1.0403|-1.0403	10|7	0.09084|0.02654	T|T	0.74|1	.|.	8.371|8.371	0.32415|0.32415	0.5704:0.0:0.4296:0.0|0.5704:0.0:0.4296:0.0	.|.	1661;1669|.	B2RWN4;Q96RT7|.	.;GCP6_HUMAN|.	L|E	1669|345	ENSP00000248846:F1669L|ENSP00000405979:Q345E	ENSP00000248846:F1669L|ENSP00000405979:Q345E	F|Q	-|-	3|1	2|0	TUBGCP6|TUBGCP6	48998906|48998906	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.764000|0.764000	0.43329|0.43329	2.172000|2.172000	0.42463|0.42463	0.103000|0.103000	0.17682|0.17682	0.467000|0.467000	0.42956|0.42956	TTC|CAA		0.632	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		12	36	0	0	0	0	12	36				
PLXNB2	23654	broad.mit.edu	37	22	50724643	50724643	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr22:50724643G>C	ENST00000449103.1	-	9	1976	c.1836C>G	c.(1834-1836)ttC>ttG	p.F612L	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Missense_Mutation_p.F612L			O15031	PLXB2_HUMAN	plexin B2	612					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGTCGTAGAAGGGGTACT	0.627																																						uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1834-1836)TTC>TTG		plexin B2 precursor							100.0	117.0	112.0					22																	50724643		2130	4243	6373	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50724643G>C		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1836C>G	22.37:g.50724643G>C	ENSP00000409171:p.Phe612Leu						p.F612L	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	9	1942	-		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)	612			Extracellular (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.1836C>G	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632096	0.87660	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.04970	3.52;3.52	4.01	4.01	0.46588	.	0.000000	0.49305	D	0.000148	T	0.24431	0.0592	M	0.81942	2.565	0.53688	D	0.999973	D	0.69078	0.997	D	0.74348	0.983	T	0.01998	-1.1232	10	0.40728	T	0.16	.	13.9837	0.64321	0.0:0.0:1.0:0.0	.	612	O15031	PLXB2_HUMAN	L	612	ENSP00000409171:F612L;ENSP00000352288:F612L	ENSP00000352288:F612L	F	-	3	2	PLXNB2	49066770	1.000000	0.71417	0.995000	0.50966	0.856000	0.48823	2.393000	0.44442	1.964000	0.57103	0.491000	0.48974	TTC		0.627	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		28	79	0	0	0	0	28	79				
LRRN1	57633	broad.mit.edu	37	3	3887186	3887186	+	Silent	SNP	T	T	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:3887186T>C	ENST00000319331.3	+	2	1622	c.861T>C	c.(859-861)ctT>ctC	p.L287L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	287						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAAATATGCTTCGGTTAAAAG	0.438																																						uc003bpt.3		NA																	0				central_nervous_system(1)	1						c.(859-861)CTT>CTC		leucine rich repeat neuronal 1 precursor							63.0	70.0	67.0					3																	3887186		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3887186T>C	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.861T>C	3.37:g.3887186T>C						SUMF1_uc003bps.1_Intron	p.L287L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1622	+			287			Extracellular (Potential).		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.861T>C	CCDS33685.1																																																																																				0.438	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		16	69	0	0	0	0	16	69				
RAD18	56852	broad.mit.edu	37	3	8940660	8940660	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:8940660C>A	ENST00000264926.2	-	11	1356	c.1240G>T	c.(1240-1242)Gaa>Taa	p.E414*		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	414					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CTGTCAGGTTCCAATTCCTCT	0.368								Rad6 pathway																														uc003brd.2		NA																	0				skin(3)|ovary(2)	5						c.(1240-1242)GAA>TAA	Rad6_pathway	postreplication repair protein hRAD18p							112.0	116.0	115.0					3																	8940660		2203	4300	6503	SO:0001587	stop_gained	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8940660C>A		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.1240G>T	3.37:g.8940660C>A	ENSP00000264926:p.Glu414*					RAD18_uc003bre.2_RNA	p.E414*	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	11	1317	-			414					Q58F55|Q9NRT6	Nonsense_Mutation	SNP	ENST00000264926.2	37	c.1240G>T	CCDS2571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.75|14.75	2.629164|2.629164	0.46944|0.46944	.|.	.|.	ENSG00000070950|ENSG00000070950	ENST00000264926;ENST00000429790|ENST00000427329	.|.	.|.	.|.	4.65|4.65	3.77|3.77	0.43336|0.43336	.|.	0.688041|.	0.14273|.	N|.	0.330023|.	.|T	.|0.50837	.|0.1639	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60434	.|-0.7264	.|3	0.21540|.	T|.	0.41|.	-7.6458|-7.6458	8.7966|8.7966	0.34883|0.34883	0.0:0.8972:0.0:0.1028|0.0:0.8972:0.0:0.1028	.|.	.|.	.|.	.|.	X|V	414;31|50	.|.	ENSP00000264926:E414X|.	E|G	-|-	1|2	0|0	RAD18|RAD18	8915660|8915660	0.001000|0.001000	0.12720|0.12720	0.010000|0.010000	0.14722|0.14722	0.006000|0.006000	0.05464|0.05464	1.171000|1.171000	0.31896|0.31896	1.315000|1.315000	0.45114|0.45114	0.557000|0.557000	0.71058|0.71058	GAA|GGA		0.368	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		9	31	1	0	1.77e-08	1.9e-08	9	31				
IRAK2	3656	broad.mit.edu	37	3	10264469	10264469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:10264469G>A	ENST00000256458.4	+	9	1253	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	388	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GATTTCATCCGGGTGGGGCAG	0.527																																						uc003bve.1		NA																	0				lung(5)|breast(3)	8						c.(1162-1164)CGG>CAG		interleukin-1 receptor-associated kinase 2							110.0	109.0	109.0					3																	10264469		2203	4300	6503	SO:0001583	missense	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10264469G>A	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1163G>A	3.37:g.10264469G>A	ENSP00000256458:p.Arg388Gln						p.R388Q	NM_001570	NP_001561	O43187	IRAK2_HUMAN			9	1239	+			388			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.1163G>A	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044696	0.75732	.	.	ENSG00000134070	ENST00000256458	T	0.65364	-0.15	5.14	4.27	0.50696	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000135	T	0.65923	0.2738	L	0.49699	1.58	0.34753	D	0.731989	D	0.76494	0.999	P	0.55545	0.778	T	0.75345	-0.3350	10	0.59425	D	0.04	-18.3303	9.601	0.39603	0.0972:0.0:0.9028:0.0	.	388	O43187	IRAK2_HUMAN	Q	388	ENSP00000256458:R388Q	ENSP00000256458:R388Q	R	+	2	0	IRAK2	10239469	0.989000	0.36119	0.405000	0.26409	0.885000	0.51271	3.871000	0.56077	1.147000	0.42369	0.655000	0.94253	CGG		0.527	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			22	72	0	0	0	0	22	72				
CCDC174	51244	broad.mit.edu	37	3	14706577	14706577	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:14706577G>A	ENST00000383794.3	+	6	601	c.528G>A	c.(526-528)atG>atA	p.M176I	CCDC174_ENST00000303688.7_Missense_Mutation_p.M176I	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	176						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGCGCTGTATGAGAAAGGATT	0.473																																						uc003byw.2		NA																	0					0						c.(526-528)ATG>ATA		hypothetical protein LOC51244							157.0	153.0	154.0					3																	14706577		2203	4300	6503	SO:0001583	missense	51244							g.chr3:14706577G>A	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.528G>A	3.37:g.14706577G>A	ENSP00000373304:p.Met176Ile					C3orf19_uc010hei.1_Missense_Mutation_p.M176I|C3orf19_uc010hej.2_Missense_Mutation_p.M81I	p.M176I	NM_016474	NP_057558	Q6PII3	CC019_HUMAN			6	619	+			176					Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.528G>A	CCDS2620.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.82|18.82	3.706166|3.706166	0.68615|0.68615	.|.	.|.	ENSG00000154781|ENSG00000154781	ENST00000285042|ENST00000383794;ENST00000303688	.|T;T	.|0.48201	.|0.82;0.83	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.042766	.|0.85682	.|D	.|0.000000	T|T	0.56934|0.56934	0.2019|0.2019	M|M	0.74258|0.74258	2.255|2.255	0.58432|0.58432	D|D	0.999997|0.999997	.|D	.|0.55172	.|0.97	.|P	.|0.48400	.|0.576	T|T	0.58567|0.58567	-0.7614|-0.7614	6|10	0.02654|0.31617	T|T	1|0.26	0.8521|0.8521	17.2927|17.2927	0.87162|0.87162	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|176	.|Q6PII3	.|CC019_HUMAN	K|I	81|176	.|ENSP00000373304:M176I;ENSP00000302344:M176I	ENSP00000285042:E81K|ENSP00000302344:M176I	E|M	+|+	1|3	0|0	C3orf19|C3orf19	14681581|14681581	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.988000|0.988000	0.76386|0.76386	7.185000|7.185000	0.77714|0.77714	2.374000|2.374000	0.81015|0.81015	0.591000|0.591000	0.81541|0.81541	GAG|ATG		0.473	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		11	125	0	0	0	0	11	125				
NR1D2	9975	broad.mit.edu	37	3	24003755	24003755	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:24003755C>G	ENST00000312521.4	+	5	1124	c.805C>G	c.(805-807)Caa>Gaa	p.Q269E	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	269	Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TATGTATAATCAAGAGCAGCA	0.423																																						uc003ccs.2		NA																	0				urinary_tract(1)|kidney(1)|skin(1)	3						c.(805-807)CAA>GAA		nuclear receptor subfamily 1, group D, member 2							72.0	66.0	68.0					3																	24003755		2203	4300	6503	SO:0001583	missense	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24003755C>G	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.805C>G	3.37:g.24003755C>G	ENSP00000310006:p.Gln269Glu					NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.Q194E	p.Q269E	NM_005126	NP_005117	Q14995	NR1D2_HUMAN			5	1124	+			269					B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	c.805C>G	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542082	0.65198	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.91996	-2.95	5.84	5.84	0.93424	Nuclear hormone receptor, ligand-binding (1);	0.112463	0.64402	D	0.000005	D	0.92093	0.7494	L	0.39020	1.185	0.80722	D	1	D	0.56521	0.976	P	0.52309	0.695	D	0.91248	0.5027	10	0.41790	T	0.15	.	20.1319	0.98001	0.0:1.0:0.0:0.0	.	269	Q14995	NR1D2_HUMAN	E	269	ENSP00000310006:Q269E	ENSP00000310006:Q269E	Q	+	1	0	NR1D2	23978759	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.233000	0.78125	2.747000	0.94245	0.655000	0.94253	CAA		0.423	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			12	39	0	0	0	0	12	39				
NR1D2	9975	broad.mit.edu	37	3	24003916	24003916	+	Silent	SNP	C	C	T	rs200679135		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:24003916C>T	ENST00000312521.4	+	5	1285	c.966C>T	c.(964-966)ttC>ttT	p.F322F	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	322	Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ATGGACAGTTCAAAGGGAGGA	0.398																																						uc003ccs.2		NA																	0				urinary_tract(1)|kidney(1)|skin(1)	3						c.(964-966)TTC>TTT		nuclear receptor subfamily 1, group D, member 2							77.0	66.0	69.0					3																	24003916		2203	4300	6503	SO:0001819	synonymous_variant	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24003916C>T	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.966C>T	3.37:g.24003916C>T						NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Silent_p.F247F	p.F322F	NM_005126	NP_005117	Q14995	NR1D2_HUMAN			5	1285	+			322					B2R8Q3|O00402|Q86XD4	Silent	SNP	ENST00000312521.4	37	c.966C>T	CCDS33718.1																																																																																				0.398	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			9	28	0	0	0	0	9	28				
MYRIP	25924	broad.mit.edu	37	3	40223839	40223839	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:40223839G>A	ENST00000302541.6	+	9	1344	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	MYRIP_ENST00000425621.1_Silent_p.K334K|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Silent_p.K147K|MYRIP_ENST00000444716.1_Silent_p.K334K|MYRIP_ENST00000396217.3_Silent_p.K245K	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	334	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCAGCTGGAAGAGTGTGGACA	0.522																																						uc003cka.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1000-1002)AAG>AAA		myosin VIIA and Rab interacting protein							91.0	77.0	82.0					3																	40223839		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40223839G>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1002G>A	3.37:g.40223839G>A						MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.K334K|MYRIP_uc010hhw.2_Silent_p.K245K|MYRIP_uc011ayz.1_Silent_p.K147K|uc003ckb.2_Intron	p.K334K	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	9	1137	+			334			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.1002G>A	CCDS2689.1																																																																																				0.522	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		9	29	0	0	0	0	9	29				
PTPN23	25930	broad.mit.edu	37	3	47448093	47448093	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:47448093C>G	ENST00000265562.4	+	8	827	c.750C>G	c.(748-750)gcC>gcG	p.A250A	PTPN23_ENST00000431726.1_Silent_p.A124A	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	250	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTTCGCAGCCGTGGCTCATG	0.627																																						uc003crf.1		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(748-750)GCC>GCG		protein tyrosine phosphatase, non-receptor type							31.0	38.0	36.0					3																	47448093		2202	4300	6502	SO:0001819	synonymous_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47448093C>G	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.750C>G	3.37:g.47448093C>G						PTPN23_uc011baw.1_Silent_p.A215A|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.A120A	p.A250A	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	846	+			250			TPR 1.|BRO1.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.750C>G	CCDS2754.1																																																																																				0.627	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		9	23	0	0	0	0	9	23				
SCAP	22937	broad.mit.edu	37	3	47484421	47484421	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:47484421G>A	ENST00000265565.5	-	2	475	c.63C>T	c.(61-63)ctC>ctT	p.L21L	SCAP_ENST00000441517.2_5'UTR|SCAP_ENST00000545718.1_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	21					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGGATGCACAGAGGAGCCCAT	0.537																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1		NA																	0				ovary(1)	1						c.(61-63)CTC>CTT		SREBF chaperone protein							192.0	150.0	164.0					3																	47484421		2203	4300	6503	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47484421G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.63C>T	3.37:g.47484421G>A						SCAP_uc011baz.1_5'UTR|SCAP_uc003crg.2_5'UTR	p.L21L	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	2	318	-			21			Helical; Name=1; (Potential).		Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.63C>T	CCDS2755.2																																																																																				0.537	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		6	29	0	0	0	0	6	29				
NAT6	24142	broad.mit.edu	37	3	50334679	50334679	+	Silent	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:50334679C>A	ENST00000443842.1	-	2	1023	c.216G>T	c.(214-216)ctG>ctT	p.L72L	HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|NAT6_ENST00000417393.1_Silent_p.L72L|HYAL3_ENST00000450982.1_Intron|NAT6_ENST00000354862.4_Silent_p.L94L|NAT6_ENST00000443094.2_Silent_p.L72L			Q93015	NAT6_HUMAN	N-acetyltransferase 6 (GCN5-related)	72	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)	N-acetyltransferase activity (GO:0008080)			endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CACAAGCATCCAGGAGCTCGG	0.642																																						uc003czi.2		NA																	0				lung(1)	1						c.(214-216)CTG>CTT		N-acetyltransferase 6							41.0	50.0	47.0					3																	50334679		2097	4217	6314	SO:0001819	synonymous_variant	24142					cytoplasm	N-acetyltransferase activity	g.chr3:50334679C>A	AF040705	CCDS43095.1, CCDS56258.1	3p21.3	2011-11-16	2008-09-24		ENSG00000243477	ENSG00000243477	2.3.1.-		30252	protein-coding gene	gene with protein product		607073	"""N-acetyltransferase 6"""			11929860, 11085536	Standard	NM_012191		Approved	FUS2		Q93015	OTTHUMG00000156939	ENST00000443842.1:c.216G>T	3.37:g.50334679C>A						HYAL3_uc003czc.1_Intron|HYAL3_uc003czd.1_Intron|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|NAT6_uc003czj.2_Silent_p.L94L|NAT6_uc003czk.3_Silent_p.L72L|NAT6_uc003czl.1_Silent_p.L72L	p.L72L	NM_012191	NP_036323	Q93015	NAT6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	319	-			72			N-acetyltransferase.		Q93014	Silent	SNP	ENST00000443842.1	37	c.216G>T	CCDS56258.1																																																																																				0.642	NAT6-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346681.1	NM_012191		9	40	1	0	0.000442599	0.000460739	9	40				
CACNA1D	776	broad.mit.edu	37	3	53834389	53834389	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:53834389C>T	ENST00000350061.5	+	41	5548	c.5037C>T	c.(5035-5037)ttC>ttT	p.F1679F	CACNA1D_ENST00000288139.4_Silent_p.F1699F|CACNA1D_ENST00000544977.1_Silent_p.F58F|CACNA1D_ENST00000422281.2_Silent_p.F1664F|RP11-884K10.6_ENST00000607740.1_RNA	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1679					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGATGTGTTCAAAGTAATTA	0.468																																						uc003dgv.3		NA																	0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(5035-5037)TTC>TTT		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						155.0	150.0	151.0					3																	53834389		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53834389C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5037C>T	3.37:g.53834389C>T						CACNA1D_uc003dgu.3_Silent_p.F1699F|CACNA1D_uc003dgy.3_Silent_p.F1664F|CACNA1D_uc003dgw.3_Silent_p.F1346F|CACNA1D_uc003dgx.1_Silent_p.F855F|CACNA1D_uc011bes.1_RNA	p.F1679F	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	41	5200	+			1679			Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.5037C>T	CCDS46848.1																																																																																				0.468	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		17	49	0	0	0	0	17	49				
SLMAP	7871	broad.mit.edu	37	3	57857389	57857389	+	Missense_Mutation	SNP	G	G	A	rs534813872	byFrequency	TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:57857389G>A	ENST00000428312.1	+	12	1307	c.1213G>A	c.(1213-1215)Gac>Aac	p.D405N	SLMAP_ENST00000295952.3_Missense_Mutation_p.D388N|SLMAP_ENST00000295951.3_Missense_Mutation_p.D388N|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000383718.3_Intron|SLMAP_ENST00000416870.1_5'UTR			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	405					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GAGTGGCGGGGACTGCACTTT	0.358													G|||	2	0.000399361	0.0	0.0	5008	,	,		14295	0.0		0.0	False		,,,				2504	0.002					uc003dje.1		NA																	0					0						c.(1213-1215)GAC>AAC		sarcolemma associated protein							88.0	93.0	92.0					3																	57857389		2203	4300	6503	SO:0001583	missense	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57857389G>A	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1213G>A	3.37:g.57857389G>A	ENSP00000398661:p.Asp405Asn					SLMAP_uc003djc.1_Intron|SLMAP_uc003djd.1_Missense_Mutation_p.D388N|SLMAP_uc003djf.1_Intron|SLMAP_uc003djg.1_Intron	p.D405N	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	12	1418	+			405			Cytoplasmic (Potential).		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37	c.1213G>A		.	.	.	.	.	.	.	.	.	.	G	18.98	3.737656	0.69304	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000428312;ENST00000465203	T;T;T	0.34275	1.37;1.37;1.41	4.85	4.85	0.62838	.	0.177042	0.47852	D	0.000205	T	0.31765	0.0807	L	0.46157	1.445	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.11060	-1.0603	10	0.12766	T	0.61	-9.956	16.5277	0.84335	0.0:0.0:1.0:0.0	.	405;388	Q14BN4;Q14BN4-3	SLMAP_HUMAN;.	N	388;388;405;112	ENSP00000295951:D388N;ENSP00000295952:D388N;ENSP00000398661:D405N	ENSP00000295951:D388N	D	+	1	0	SLMAP	57832429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.624000	0.67764	2.406000	0.81754	0.555000	0.69702	GAC		0.358	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		9	38	0	0	0	0	9	38				
DZIP3	9666	broad.mit.edu	37	3	108380811	108380811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:108380811C>T	ENST00000361582.3	+	20	2517	c.2287C>T	c.(2287-2289)Cag>Tag	p.Q763*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.Q763*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	763					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATTGCACTATCAGTGTGAAGT	0.373																																						uc003dxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2287-2289)CAG>TAG		DAZ interacting protein 3, zinc finger							97.0	97.0	97.0					3																	108380811		2203	4300	6503	SO:0001587	stop_gained	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108380811C>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2287C>T	3.37:g.108380811C>T	ENSP00000355028:p.Gln763*					DZIP3_uc003dxf.1_Nonsense_Mutation_p.Q763*|DZIP3_uc011bhm.1_Nonsense_Mutation_p.Q214*	p.Q763*	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			20	2709	+			763					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Nonsense_Mutation	SNP	ENST00000361582.3	37	c.2287C>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	39	7.306220	0.98200	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	.	.	.	4.5	3.6	0.41247	.	0.141787	0.32372	N	0.006182	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-5.014	10.2964	0.43627	0.0:0.7892:0.2108:0.0	.	.	.	.	X	763	.	ENSP00000355028:Q763X	Q	+	1	0	DZIP3	109863501	0.990000	0.36364	1.000000	0.80357	0.999000	0.98932	1.931000	0.40134	1.201000	0.43203	0.655000	0.94253	CAG		0.373	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		10	23	0	0	0	0	10	23				
DPPA2	151871	broad.mit.edu	37	3	109026903	109026903	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:109026903C>G	ENST00000478945.1	-	6	880	c.634G>C	c.(634-636)Gag>Cag	p.E212Q		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	212					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAAAAGGCCTCAACAGAAACA	0.458																																						uc003dxo.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(634-636)GAG>CAG		developmental pluripotency associated 2							62.0	60.0	61.0					3																	109026903		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109026903C>G	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.634G>C	3.37:g.109026903C>G	ENSP00000417710:p.Glu212Gln						p.E212Q	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			6	881	-			212					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.634G>C	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389008	0.61956	.	.	ENSG00000163530	ENST00000478945	T	0.58506	0.33	4.31	4.31	0.51392	.	0.552836	0.16746	N	0.201238	T	0.64034	0.2562	L	0.48642	1.525	0.09310	N	0.999999	D	0.56968	0.978	P	0.56916	0.809	T	0.56577	-0.7956	10	0.72032	D	0.01	-11.6657	12.6004	0.56494	0.0:1.0:0.0:0.0	.	212	Q7Z7J5	DPPA2_HUMAN	Q	212	ENSP00000417710:E212Q	ENSP00000417710:E212Q	E	-	1	0	DPPA2	110509593	0.001000	0.12720	0.229000	0.23960	0.103000	0.19146	0.756000	0.26419	2.697000	0.92050	0.555000	0.69702	GAG		0.458	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		11	15	0	0	0	0	11	15				
ARHGAP31	57514	broad.mit.edu	37	3	119135106	119135106	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:119135106G>C	ENST00000264245.4	+	12	4862	c.4330G>C	c.(4330-4332)Gaa>Caa	p.E1444Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1444					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAGGCAAATAGAATGATTTCG	0.463																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3		NA																	0				ovary(2)	2						c.(4330-4332)GAA>CAA		Cdc42 GTPase-activating protein							51.0	47.0	48.0					3																	119135106		1918	4121	6039	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119135106G>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.4330G>C	3.37:g.119135106G>C	ENSP00000264245:p.Glu1444Gln						p.E1444Q	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			12	4862	+			1444					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.4330G>C	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218307	0.79464	.	.	ENSG00000031081	ENST00000264245	T	0.22743	1.94	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000015	T	0.30166	0.0756	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.39035	-0.9633	10	0.87932	D	0	.	19.1348	0.93422	0.0:0.0:1.0:0.0	.	1444	Q2M1Z3	RHG31_HUMAN	Q	1444	ENSP00000264245:E1444Q	ENSP00000264245:E1444Q	E	+	1	0	ARHGAP31	120617796	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.476000	0.97823	2.779000	0.95612	0.591000	0.81541	GAA		0.463	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			14	31	0	0	0	0	14	31				
GOLGB1	2804	broad.mit.edu	37	3	121410602	121410602	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:121410602C>G	ENST00000340645.5	-	14	7719	c.7594G>C	c.(7594-7596)Gaa>Caa	p.E2532Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2537Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2532					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGGATCAGTTCTGCATCTAGC	0.398																																						uc003eei.3		NA																	0				ovary(6)|breast(2)|skin(2)	10						c.(7594-7596)GAA>CAA		golgi autoantigen, golgin subfamily b,							153.0	157.0	156.0					3																	121410602		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410602C>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7594G>C	3.37:g.121410602C>G	ENSP00000341848:p.Glu2532Gln					GOLGB1_uc010hrc.2_Missense_Mutation_p.E2537Q|GOLGB1_uc003eej.3_Missense_Mutation_p.E2498Q	p.E2532Q	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	7720	-			2532			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.7594G>C	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945912	0.34377	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.11169	2.8;2.8	5.55	5.55	0.83447	.	0.089128	0.48767	D	0.000163	T	0.22975	0.0555	L	0.41710	1.295	0.37513	D	0.917219	D;P;P	0.89917	1.0;0.884;0.955	D;P;P	0.85130	0.997;0.636;0.69	T	0.01914	-1.1248	10	0.35671	T	0.21	.	12.7018	0.57038	0.0:0.8343:0.1657:0.0	.	2537;2537;2532	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	Q	2532;2537	ENSP00000341848:E2532Q;ENSP00000377275:E2537Q	ENSP00000341848:E2532Q	E	-	1	0	GOLGB1	122893292	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	2.685000	0.46959	2.601000	0.87937	0.563000	0.77884	GAA		0.398	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		51	116	0	0	0	0	51	116				
GOLGB1	2804	broad.mit.edu	37	3	121411229	121411229	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:121411229C>G	ENST00000340645.5	-	14	7092	c.6967G>C	c.(6967-6969)Gat>Cat	p.D2323H	GOLGB1_ENST00000393667.3_Missense_Mutation_p.D2328H	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2323					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTACTTAAATCAGTCAACTGG	0.373																																						uc003eei.3		NA																	0				ovary(6)|breast(2)|skin(2)	10						c.(6967-6969)GAT>CAT		golgi autoantigen, golgin subfamily b,							100.0	99.0	100.0					3																	121411229		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121411229C>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6967G>C	3.37:g.121411229C>G	ENSP00000341848:p.Asp2323His					GOLGB1_uc010hrc.2_Missense_Mutation_p.D2328H|GOLGB1_uc003eej.3_Missense_Mutation_p.D2289H	p.D2323H	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	7093	-			2323			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.6967G>C	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	5.478	0.273139	0.10349	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.19394	2.15;2.15	5.91	5.91	0.95273	.	0.090061	0.48286	D	0.000186	T	0.42449	0.1203	L	0.54323	1.7	0.40197	D	0.977471	D;D;D	0.89917	1.0;0.997;0.995	D;D;P	0.66351	0.943;0.912;0.849	T	0.12889	-1.0530	10	0.62326	D	0.03	.	17.7921	0.88555	0.0:1.0:0.0:0.0	.	2328;2328;2323	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	H	2323;2328	ENSP00000341848:D2323H;ENSP00000377275:D2328H	ENSP00000341848:D2323H	D	-	1	0	GOLGB1	122893919	0.894000	0.30519	0.812000	0.32479	0.151000	0.21798	1.140000	0.31516	2.802000	0.96397	0.655000	0.94253	GAT		0.373	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		24	66	0	0	0	0	24	66				
HEG1	57493	broad.mit.edu	37	3	124731790	124731790	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:124731790C>T	ENST00000311127.4	-	6	2700	c.2633G>A	c.(2632-2634)gGa>gAa	p.G878E	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	878					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GAGCTGTTTTCCAGCTGTAGT	0.507																																						uc003ehs.3		NA																	0				ovary(2)	2						c.(2632-2634)GGA>GAA		HEG homolog 1 precursor							140.0	140.0	140.0					3																	124731790		2025	4182	6207	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124731790C>T	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2633G>A	3.37:g.124731790C>T	ENSP00000311502:p.Gly878Glu					HEG1_uc011bke.1_Missense_Mutation_p.G978E	p.G878E	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			6	2701	-			878			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.2633G>A	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	0.077	-1.190677	0.01607	.	.	ENSG00000173706	ENST00000311127	D	0.87491	-2.26	4.54	-0.525	0.11917	.	2.085340	0.02861	N	0.130350	T	0.68284	0.2984	N	0.04880	-0.145	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.14578	0.011;0.005	T	0.64110	-0.6484	10	0.05351	T	0.99	.	3.2699	0.06878	0.1878:0.3792:0.0:0.433	.	878;878	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	E	878	ENSP00000311502:G878E	ENSP00000311502:G878E	G	-	2	0	HEG1	126214480	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.048000	0.14078	-0.007000	0.14345	-0.314000	0.08810	GGA		0.507	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		21	72	0	0	0	0	21	72				
TPRA1	131601	broad.mit.edu	37	3	127298673	127298673	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:127298673G>A	ENST00000355552.3	-	3	544	c.168C>T	c.(166-168)ctC>ctT	p.L56L	TPRA1_ENST00000296210.7_Silent_p.L56L|TPRA1_ENST00000450633.2_Silent_p.L56L|TPRA1_ENST00000489960.1_Silent_p.L56L	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	56					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						AGATGAGGAAGAGCACATTGG	0.582																																						uc003ejl.2		NA																	0					0						c.(166-168)CTC>CTT		G protein-coupled receptor 175 isoform 1							86.0	90.0	88.0					3																	127298673		2203	4300	6503	SO:0001819	synonymous_variant	131601				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	g.chr3:127298673G>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.168C>T	3.37:g.127298673G>A						TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Silent_p.L56L|TPRA1_uc010hsk.2_Silent_p.L56L|TPRA1_uc003ejn.2_Silent_p.L56L	p.L56L	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN			2	459	-			56			Helical; Name=1; (Potential).		A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Silent	SNP	ENST00000355552.3	37	c.168C>T	CCDS3042.1																																																																																				0.582	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1	NM_016372		4	43	0	0	0	0	4	43				
PLXND1	23129	broad.mit.edu	37	3	129324855	129324855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:129324855C>T	ENST00000324093.4	-	1	806	c.628G>A	c.(628-630)Ggc>Agc	p.G210S	PLXND1_ENST00000393239.1_Missense_Mutation_p.G210S	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	210	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TACGTGGCGCCCACGAGCAGG	0.711																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NA																	0				large_intestine(1)	1						c.(628-630)GGC>AGC		plexin D1 precursor							11.0	12.0	12.0					3																	129324855		2163	4243	6406	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129324855C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.628G>A	3.37:g.129324855C>T	ENSP00000317128:p.Gly210Ser						p.G210S	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			1	728	-			210			Extracellular (Potential).|Sema.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.628G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	c	17.55	3.416717	0.62511	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.11169	2.8;2.8	3.31	3.31	0.37934	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.951062	0.08667	U	0.911489	T	0.25005	0.0607	M	0.74647	2.275	0.43652	D	0.996068	D	0.64830	0.994	P	0.54706	0.759	T	0.06679	-1.0813	10	0.72032	D	0.01	.	7.9589	0.30060	0.0:0.8836:0.0:0.1164	.	210	Q9Y4D7	PLXD1_HUMAN	S	210	ENSP00000317128:G210S;ENSP00000376931:G210S	ENSP00000317128:G210S	G	-	1	0	PLXND1	130807545	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	7.111000	0.77077	1.719000	0.51432	0.299000	0.19835	GGC		0.711	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		3	12	0	0	0	0	3	12				
RASA2	5922	broad.mit.edu	37	3	141272764	141272764	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:141272764C>T	ENST00000452898.1	+	6	628	c.593C>T	c.(592-594)tCt>tTt	p.S198F	RASA2_ENST00000286364.3_Missense_Mutation_p.S198F	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	198	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GCAACAGTTTCTCTAGTGGGC	0.323																																						uc003etz.1		NA																	0				ovary(2)|lung(2)|breast(1)|skin(1)	6						c.(592-594)TCT>TTT		RAS p21 protein activator 2							107.0	106.0	106.0					3																	141272764		2203	4300	6503	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141272764C>T	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.593C>T	3.37:g.141272764C>T	ENSP00000391677:p.Ser198Phe					RASA2_uc010huq.1_Missense_Mutation_p.S198F|RASA2_uc003eua.1_Missense_Mutation_p.S198F|RASA2_uc011bnc.1_5'UTR	p.S198F	NM_006506	NP_006497	Q15283	RASA2_HUMAN			6	593	+			198			C2 2.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.593C>T		.	.	.	.	.	.	.	.	.	.	C	24.1	4.495719	0.85069	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.70399	-0.48;-0.48	5.54	5.54	0.83059	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.74581	0.3735	L	0.38531	1.155	0.58432	D	0.999995	D;P;D	0.53619	0.961;0.951;0.961	P;P;P	0.60682	0.878;0.807;0.878	T	0.66846	-0.5820	10	0.09338	T	0.73	.	19.4784	0.94998	0.0:1.0:0.0:0.0	.	198;198;198	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	F	198	ENSP00000286364:S198F;ENSP00000391677:S198F	ENSP00000286364:S198F	S	+	2	0	RASA2	142755454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.382000	0.73167	2.607000	0.88179	0.557000	0.71058	TCT		0.323	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		21	63	0	0	0	0	21	63				
SI	6476	broad.mit.edu	37	3	164733862	164733862	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:164733862G>A	ENST00000264382.3	-	32	3828	c.3766C>T	c.(3766-3768)Cag>Tag	p.Q1256*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1256	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.Q1256E(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCTGTGTACTGAACATCCTGA	0.333										HNSCC(35;0.089)																												uc003fei.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3766-3768)CAG>TAG		sucrase-isomaltase	Acarbose(DB00284)						149.0	160.0	156.0					3																	164733862		2203	4300	6503	SO:0001587	stop_gained	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164733862G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3766C>T	3.37:g.164733862G>A	ENSP00000264382:p.Gln1256*	HNSCC(35;0.089)					p.Q1256*	NM_001041	NP_001032	P14410	SUIS_HUMAN			32	3828	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1256			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	c.3766C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	42	9.557882	0.99204	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3199	0.90234	0.0:0.0:1.0:0.0	.	.	.	.	X	1256	.	ENSP00000264382:Q1256X	Q	-	1	0	SI	166216556	1.000000	0.71417	0.981000	0.43875	0.730000	0.41778	7.112000	0.77086	2.557000	0.86248	0.585000	0.79938	CAG		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		24	75	0	0	0	0	24	75				
SLITRK3	22865	broad.mit.edu	37	3	164906954	164906954	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:164906954G>C	ENST00000475390.1	-	2	2108	c.1665C>G	c.(1663-1665)gtC>gtG	p.V555V	SLITRK3_ENST00000241274.3_Silent_p.V555V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	555					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGTCTATCTGGACAATGGCAT	0.527										HNSCC(40;0.11)																												uc003fej.3		NA																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(1663-1665)GTC>GTG		slit and trk like 3 protein precursor							78.0	75.0	76.0					3																	164906954		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164906954G>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1665C>G	3.37:g.164906954G>C		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.V555V	p.V555V	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2109	-			555			Extracellular (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.1665C>G	CCDS3197.1																																																																																				0.527	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		4	50	0	0	0	0	4	50				
LRRC31	79782	broad.mit.edu	37	3	169572619	169572619	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:169572619C>G	ENST00000316428.5	-	6	1030	c.973G>C	c.(973-975)Gat>Cat	p.D325H	LRRC31_ENST00000264676.5_Missense_Mutation_p.D269H|LRRC31_ENST00000523069.1_Missense_Mutation_p.D325H|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	325										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			ATCACGTCATCTGCTGTTAGT	0.408																																						uc003fgc.1		NA																	0				ovary(2)|skin(1)	3						c.(973-975)GAT>CAT		leucine rich repeat containing 31							143.0	136.0	139.0					3																	169572619		1900	4116	6016	SO:0001583	missense	79782							g.chr3:169572619C>G	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.973G>C	3.37:g.169572619C>G	ENSP00000325978:p.Asp325His					LRRC31_uc010hwp.1_Missense_Mutation_p.D269H	p.D325H	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		6	1050	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		325			LRR 4.		B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	c.973G>C	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215204	0.39102	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.54479	0.57;0.57;0.57	4.46	3.58	0.41010	.	0.628969	0.16492	N	0.212054	T	0.59998	0.2235	L	0.54323	1.7	0.09310	N	1	D;D	0.71674	0.974;0.998	P;P	0.55545	0.724;0.778	T	0.51756	-0.8665	10	0.44086	T	0.13	-0.0018	12.3335	0.55054	0.0:0.9173:0.0:0.0827	.	269;325	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	H	325;269;325	ENSP00000325978:D325H;ENSP00000264676:D269H;ENSP00000429145:D325H	ENSP00000264676:D269H	D	-	1	0	LRRC31	171055313	0.001000	0.12720	0.001000	0.08648	0.055000	0.15305	1.379000	0.34340	0.873000	0.35799	0.561000	0.74099	GAT		0.408	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		16	63	0	0	0	0	16	63				
TTC14	151613	broad.mit.edu	37	3	180327993	180327993	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:180327993G>T	ENST00000296015.4	+	12	2108	c.1976G>T	c.(1975-1977)aGa>aTa	p.R659I	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	659							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GAGCACTATAGAAGGTGGGAA	0.403																																						uc003fkk.2		NA																	0				ovary(1)	1						c.(1975-1977)AGA>ATA		tetratricopeptide repeat domain 14 isoform a							71.0	76.0	74.0					3																	180327993		2200	4299	6499	SO:0001583	missense	151613						RNA binding	g.chr3:180327993G>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1976G>T	3.37:g.180327993G>T	ENSP00000296015:p.Arg659Ile					TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron	p.R659I	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	2108	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		659					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1976G>T	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539106	0.85917	.	.	ENSG00000163728	ENST00000296015	T	0.20463	2.07	6.04	6.04	0.98038	.	0.167733	0.52532	D	0.000067	T	0.34424	0.0897	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.02829	-1.1105	10	0.87932	D	0	-22.2567	14.1631	0.65459	0.0764:0.0:0.9236:0.0	.	659	Q96N46	TTC14_HUMAN	I	659	ENSP00000296015:R659I	ENSP00000296015:R659I	R	+	2	0	TTC14	181810687	1.000000	0.71417	0.943000	0.38184	0.989000	0.77384	3.342000	0.52159	2.873000	0.98535	0.563000	0.77884	AGA		0.403	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		9	39	1	0	0.000274275	0.000286037	9	39				
DCUN1D1	54165	broad.mit.edu	37	3	182683478	182683478	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:182683478C>T	ENST00000292782.4	-	2	220	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.E8K	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	23	UBA-like.					ubiquitin ligase complex (GO:0000151)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GCTGTTTTTTCACTAGATTGT	0.323																																						uc003fld.1		NA																	0				ovary(1)	1						c.(67-69)GAA>AAA		RP42 homolog							113.0	116.0	115.0					3																	182683478		2202	4299	6501	SO:0001583	missense	54165					ubiquitin ligase complex	protein binding	g.chr3:182683478C>T	AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.67G>A	3.37:g.182683478C>T	ENSP00000292782:p.Glu23Lys					DCUN1D1_uc011bqn.1_5'UTR	p.E23K	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		2	116	-	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		23			UBA-like.		B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Missense_Mutation	SNP	ENST00000292782.4	37	c.67G>A	CCDS3240.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719163	0.89205	.	.	ENSG00000043093	ENST00000292782;ENST00000458486;ENST00000469954;ENST00000497606;ENST00000460412;ENST00000487822;ENST00000466812	.	.	.	5.84	5.84	0.93424	UBA-like (1);	0.049130	0.85682	D	0.000000	T	0.72061	0.3414	M	0.80332	2.49	0.80722	D	1	B	0.27679	0.185	B	0.26614	0.071	T	0.71090	-0.4693	9	0.59425	D	0.04	-37.141	20.1295	0.97995	0.0:1.0:0.0:0.0	.	23	Q96GG9	DCNL1_HUMAN	K	23;23;8;8;8;8;8	.	ENSP00000292782:E23K	E	-	1	0	DCUN1D1	184166172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.758000	0.94735	0.591000	0.81541	GAA		0.323	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640		18	53	0	0	0	0	18	53				
EIF4G1	1981	broad.mit.edu	37	3	184039824	184039824	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:184039824C>T	ENST00000346169.2	+	10	1723	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000342981.4_Silent_p.L484L|EIF4G1_ENST00000434061.2_Silent_p.L288L|EIF4G1_ENST00000435046.2_Silent_p.L288L|EIF4G1_ENST00000411531.1_Silent_p.L444L|EIF4G1_ENST00000350481.5_Silent_p.L320L|EIF4G1_ENST00000319274.6_Silent_p.L484L|EIF4G1_ENST00000382330.3_Silent_p.L491L|EIF4G1_ENST00000414031.1_Silent_p.L444L|EIF4G1_ENST00000441154.1_Silent_p.L320L|EIF4G1_ENST00000352767.3_Silent_p.L491L|EIF4G1_ENST00000427845.1_Silent_p.L397L|EIF4G1_ENST00000424196.1_Silent_p.L491L|EIF4G1_ENST00000392537.2_Silent_p.L397L	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	484					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGAACTGCTCCCCCCAGAGA	0.537																																						uc003fnp.2		NA																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1450-1452)CTC>CTT		eukaryotic translation initiation factor 4							63.0	64.0	64.0					3																	184039824		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039824C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1452C>T	3.37:g.184039824C>T						EIF4G1_uc003fno.1_Silent_p.L425L|EIF4G1_uc010hxw.1_Silent_p.L320L|EIF4G1_uc003fnt.2_Silent_p.L195L|EIF4G1_uc003fnq.2_Silent_p.L397L|EIF4G1_uc003fnr.2_Silent_p.L320L|EIF4G1_uc010hxx.2_Silent_p.L491L|EIF4G1_uc003fns.2_Silent_p.L444L|EIF4G1_uc010hxy.2_Silent_p.L491L|EIF4G1_uc003fnv.3_Silent_p.L484L|EIF4G1_uc003fnu.3_Silent_p.L484L|EIF4G1_uc003fnw.2_Silent_p.L491L|EIF4G1_uc003fnx.2_Silent_p.L288L|EIF4G1_uc003fny.3_Silent_p.L288L	p.L484L	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1650	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		484					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.1452C>T	CCDS3259.1																																																																																				0.537	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		18	49	0	0	0	0	18	49				
EIF4G1	1981	broad.mit.edu	37	3	184039888	184039888	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:184039888C>G	ENST00000346169.2	+	10	1787	c.1516C>G	c.(1516-1518)Caa>Gaa	p.Q506E	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000342981.4_Missense_Mutation_p.Q506E|EIF4G1_ENST00000434061.2_Missense_Mutation_p.Q310E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.Q310E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.Q466E|EIF4G1_ENST00000350481.5_Missense_Mutation_p.Q342E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.Q506E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.Q513E|EIF4G1_ENST00000414031.1_Missense_Mutation_p.Q466E|EIF4G1_ENST00000441154.1_Missense_Mutation_p.Q342E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.Q513E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.Q419E|EIF4G1_ENST00000424196.1_Missense_Mutation_p.Q513E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.Q419E	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	506					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCAGCCACTCAAGGTAAGGT	0.547																																						uc003fnp.2		NA																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1516-1518)CAA>GAA		eukaryotic translation initiation factor 4							48.0	51.0	50.0					3																	184039888		2192	4277	6469	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039888C>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1516C>G	3.37:g.184039888C>G	ENSP00000316879:p.Gln506Glu					EIF4G1_uc003fno.1_Missense_Mutation_p.Q447E|EIF4G1_uc010hxw.1_Missense_Mutation_p.Q342E|EIF4G1_uc003fnt.2_Missense_Mutation_p.Q217E|EIF4G1_uc003fnq.2_Missense_Mutation_p.Q419E|EIF4G1_uc003fnr.2_Missense_Mutation_p.Q342E|EIF4G1_uc010hxx.2_Missense_Mutation_p.Q513E|EIF4G1_uc003fns.2_Missense_Mutation_p.Q466E|EIF4G1_uc010hxy.2_Missense_Mutation_p.Q513E|EIF4G1_uc003fnv.3_Missense_Mutation_p.Q506E|EIF4G1_uc003fnu.3_Missense_Mutation_p.Q506E|EIF4G1_uc003fnw.2_Missense_Mutation_p.Q513E|EIF4G1_uc003fnx.2_Missense_Mutation_p.Q310E|EIF4G1_uc003fny.3_Missense_Mutation_p.Q310E	p.Q506E	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1714	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		506					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.1516C>G	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	7.639	0.680515	0.14907	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63255	1.36;1.36;1.36;1.36;1.36;1.36;1.36;-0.03;1.36;1.36;1.36;1.36;1.36;1.36;-0.03;-0.03;-0.03;-0.03	5.25	5.25	0.73442	.	1.659270	0.03019	N	0.150445	T	0.57548	0.2061	L	0.46157	1.445	0.42273	D	0.992069	B;B;B;P	0.35383	0.244;0.055;0.244;0.498	B;B;B;B	0.30401	0.064;0.013;0.044;0.115	T	0.49051	-0.8979	10	0.07482	T	0.82	-5.7379	15.7072	0.77592	0.0:1.0:0.0:0.0	.	513;506;506;513	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	E	506;466;419;506;513;513;447;342;513;419;506;506;513;466;342;342;310;310	ENSP00000316879:Q506E;ENSP00000391935:Q466E;ENSP00000376320:Q419E;ENSP00000391412:Q506E;ENSP00000413159:Q513E;ENSP00000371767:Q513E;ENSP00000403269:Q447E;ENSP00000317600:Q342E;ENSP00000338020:Q513E;ENSP00000407682:Q419E;ENSP00000343450:Q506E;ENSP00000323737:Q506E;ENSP00000416255:Q513E;ENSP00000395974:Q466E;ENSP00000398145:Q342E;ENSP00000399858:Q342E;ENSP00000411826:Q310E;ENSP00000404754:Q310E	ENSP00000323737:Q506E	Q	+	1	0	EIF4G1	185522582	0.998000	0.40836	1.000000	0.80357	0.158000	0.22134	1.624000	0.37018	2.732000	0.93576	0.563000	0.77884	CAA		0.547	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		14	55	0	0	0	0	14	55				
EIF4G1	1981	broad.mit.edu	37	3	184044351	184044351	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:184044351C>T	ENST00000346169.2	+	22	3530	c.3259C>T	c.(3259-3261)Cct>Tct	p.P1087S	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000342981.4_Missense_Mutation_p.P1088S|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P892S|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P891S|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P1048S|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P923S|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P1087S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P1094S|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P1047S|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P924S|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P1094S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P1001S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P1094S|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P1000S	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1087					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTCTTTGCACCTGGAGGGCG	0.597																																						uc003fnp.2		NA																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3259-3261)CCT>TCT		eukaryotic translation initiation factor 4							89.0	84.0	85.0					3																	184044351		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184044351C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3259C>T	3.37:g.184044351C>T	ENSP00000316879:p.Pro1087Ser					EIF4G1_uc003fnt.2_Missense_Mutation_p.P798S|EIF4G1_uc003fnq.2_Missense_Mutation_p.P1000S|EIF4G1_uc003fnr.2_Missense_Mutation_p.P923S|EIF4G1_uc010hxx.2_Missense_Mutation_p.P1094S|EIF4G1_uc003fns.2_Missense_Mutation_p.P1047S|EIF4G1_uc010hxy.2_Missense_Mutation_p.P1094S|EIF4G1_uc003fnv.3_Missense_Mutation_p.P1088S|EIF4G1_uc003fnu.3_Missense_Mutation_p.P1087S|EIF4G1_uc003fnw.2_Missense_Mutation_p.P1094S|EIF4G1_uc003fnx.2_Missense_Mutation_p.P892S|EIF4G1_uc003fny.3_Missense_Mutation_p.P891S|EIF4G1_uc003foa.2_5'Flank	p.P1087S	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		22	3457	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1087					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.3259C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937923	0.92526	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04862	3.83;3.81;3.72;3.8;3.57;3.8;3.71;3.78;3.83;3.8;3.78;3.56;3.54;3.55	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	M	0.67953	2.075	0.58432	D	0.999999	D;D;D	0.60160	0.987;0.987;0.987	P;P;P	0.60173	0.87;0.87;0.87	T	0.00374	-1.1780	10	0.56958	D	0.05	-10.8861	15.327	0.74172	0.0:0.9337:0.0:0.0663	.	1094;1088;1087	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	S	1087;1047;1000;1094;923;1094;1001;1088;1087;1094;1048;924;892;891	ENSP00000316879:P1087S;ENSP00000391935:P1047S;ENSP00000376320:P1000S;ENSP00000371767:P1094S;ENSP00000317600:P923S;ENSP00000338020:P1094S;ENSP00000407682:P1001S;ENSP00000343450:P1088S;ENSP00000323737:P1087S;ENSP00000416255:P1094S;ENSP00000395974:P1048S;ENSP00000399858:P924S;ENSP00000411826:P892S;ENSP00000404754:P891S	ENSP00000323737:P1087S	P	+	1	0	EIF4G1	185527045	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.395000	0.79876	1.620000	0.50308	0.655000	0.94253	CCT		0.597	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		18	47	0	0	0	0	18	47				
PCYT1A	5130	broad.mit.edu	37	3	195965715	195965715	+	Silent	SNP	C	C	T	rs534755558		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr3:195965715C>T	ENST00000292823.2	-	10	1120	c.948G>A	c.(946-948)ccG>ccA	p.P316P	PCYT1A_ENST00000419333.1_Silent_p.P316P|PCYT1A_ENST00000431016.1_Silent_p.P316P	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	316					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	GGCTCTGCTTCGGGCTGATGG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		17056	0.0		0.0	False		,,,				2504	0.001					uc003fwg.2		NA																	0					0						c.(946-948)CCG>CCA		choline phosphate cytidylyltransferase 1 alpha	Choline(DB00122)						28.0	30.0	29.0					3																	195965715		2203	4300	6503	SO:0001819	synonymous_variant	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195965715C>T	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.948G>A	3.37:g.195965715C>T						uc003fwf.1_5'Flank|PCYT1A_uc003fwh.2_Silent_p.P316P	p.P316P	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	10	1121	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		316					A9LYK9|D3DXB1|Q86Y88	Silent	SNP	ENST00000292823.2	37	c.948G>A	CCDS3315.1																																																																																				0.587	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		3	12	0	0	0	0	3	12				
PCGF3	10336	broad.mit.edu	37	4	755157	755157	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:755157C>G	ENST00000362003.5	+	9	948	c.553C>G	c.(553-555)Ctg>Gtg	p.L185V	PCGF3_ENST00000470161.2_Missense_Mutation_p.L185V|PCGF3_ENST00000505655.2_Missense_Mutation_p.L185V|PCGF3_ENST00000521023.2_Missense_Mutation_p.L151V|RP11-440L14.1_ENST00000503571.1_RNA	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						CGTCTTGCATCTGAAGAAGTT	0.488																																						uc011bva.1		NA																	0					0						c.(553-555)CTG>GTG		ring finger protein 3							79.0	84.0	82.0					4																	755157		1956	4144	6100	SO:0001583	missense	10336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding	g.chr4:755157C>G	AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	10066	protein-coding gene	gene with protein product			"""ring finger protein 3"""	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.553C>G	4.37:g.755157C>G	ENSP00000354724:p.Leu185Val					PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Missense_Mutation_p.L185V|PCGF3_uc010ibh.2_Missense_Mutation_p.L185V|PCGF3_uc003gbg.1_Missense_Mutation_p.L151V|PCGF3_uc003gbh.2_Missense_Mutation_p.L151V	p.L185V	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN			10	1028	+			185					D3DVN1|O15262	Missense_Mutation	SNP	ENST00000362003.5	37	c.553C>G	CCDS3339.2	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964910	0.53507	.	.	ENSG00000185619	ENST00000362003;ENST00000470161;ENST00000521023;ENST00000505655	T;T;T	0.62364	0.03;0.03;0.03	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000003	T	0.68742	0.3034	L	0.55743	1.74	0.58432	D	0.999992	P;P;P	0.44478	0.697;0.75;0.836	P;B;B	0.51918	0.684;0.357;0.29	T	0.69476	-0.5135	10	0.46703	T	0.11	-11.3063	16.0111	0.80404	0.0:1.0:0.0:0.0	.	151;151;185	B3KWT8;B3KQ06;Q3KNV8	.;.;PCGF3_HUMAN	V	185;185;151;185	ENSP00000354724:L185V;ENSP00000420489:L185V;ENSP00000423393:L185V	ENSP00000354724:L185V	L	+	1	2	PCGF3	745157	1.000000	0.71417	0.107000	0.21349	0.032000	0.12392	3.435000	0.52849	2.449000	0.82847	0.561000	0.74099	CTG		0.488	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239197.2	NM_006315		18	51	0	0	0	0	18	51				
GAK	2580	broad.mit.edu	37	4	844827	844827	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:844827G>A	ENST00000314167.4	-	26	3664	c.3554C>T	c.(3553-3555)tCc>tTc	p.S1185F	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.S1106F	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1185					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCCTTGATTGGACAACAGATC	0.468																																						uc003gbm.3		NA																	0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(3553-3555)TCC>TTC		cyclin G associated kinase							169.0	160.0	163.0					4																	844827		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:844827G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3554C>T	4.37:g.844827G>A	ENSP00000314499:p.Ser1185Phe					GAK_uc003gbn.3_Missense_Mutation_p.S1106F|GAK_uc003gbk.3_Intron|GAK_uc010ibi.2_Missense_Mutation_p.S410F|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.S1038F	p.S1185F	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	26	3753	-			1185					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.3554C>T	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.32|18.32	3.597269|3.597269	0.66332|0.66332	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000511980|ENST00000398567;ENST00000314167;ENST00000511163	.|T;T	.|0.25579	.|1.79;1.79	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Heat shock protein DnaJ, N-terminal (2);	.|0.265359	.|0.38272	.|N	.|0.001743	T|T	0.46073|0.46073	0.1374|0.1374	L|L	0.56199|0.56199	1.76|1.76	0.48632|0.48632	D|D	0.999683|0.999683	.|D;D;D;D	.|0.67145	.|0.987;0.993;0.958;0.996	.|D;P;D;D	.|0.66497	.|0.919;0.836;0.919;0.944	T|T	0.38802|0.38802	-0.9644|-0.9644	5|10	.|0.72032	.|D	.|0.01	-15.6736|-15.6736	16.6821|16.6821	0.85295|0.85295	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1087;1106;1185;1070	.|B4DS37;E9PGR2;O14976;Q59HA5	.|.;.;GAK_HUMAN;.	S|F	341|461;1185;1106	.|ENSP00000314499:S1185F;ENSP00000421361:S1106F	.|ENSP00000314499:S1185F	P|S	-|-	1|2	0|0	GAK|GAK	834827|834827	1.000000|1.000000	0.71417|0.71417	0.126000|0.126000	0.21872|0.21872	0.756000|0.756000	0.42949|0.42949	6.318000|6.318000	0.72866|0.72866	2.527000|2.527000	0.85204|0.85204	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.468	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		25	75	0	0	0	0	25	75				
RGS12	6002	broad.mit.edu	37	4	3317944	3317944	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:3317944C>T	ENST00000344733.5	+	2	951	c.47C>T	c.(46-48)tCg>tTg	p.S16L	RGS12_ENST00000336727.3_Missense_Mutation_p.S16L|RGS12_ENST00000382788.3_Missense_Mutation_p.S16L|RGS12_ENST00000543385.1_Missense_Mutation_p.S16L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	16					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTGGGCCGTCGCCCCCAAGG	0.607																																						uc003ggw.2		NA																	0				skin(1)	1						c.(46-48)TCG>TTG		regulator of G-protein signalling 12 isoform 1							66.0	80.0	76.0					4																	3317944		2202	4300	6502	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3317944C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.47C>T	4.37:g.3317944C>T	ENSP00000339381:p.Ser16Leu					RGS12_uc003ggu.2_Missense_Mutation_p.S16L|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.S16L|RGS12_uc003ggx.1_Missense_Mutation_p.S16L	p.S16L	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	951	+			16					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.47C>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485427	0.26686	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.32	0.499	0.16914	PDZ/DHR/GLGF (1);	0.955426	0.08601	N	0.921474	T	0.28599	0.0708	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19445	0.036;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.0	T	0.18555	-1.0333	10	0.37606	T	0.19	-3.1016	4.497	0.11842	0.0:0.499:0.1561:0.3449	.	16;16;16	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	L	16	ENSP00000440566:S16L;ENSP00000339381:S16L;ENSP00000338509:S16L;ENSP00000372238:S16L	ENSP00000338509:S16L	S	+	2	0	RGS12	3287742	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	0.037000	0.13840	-0.268000	0.09312	0.313000	0.20887	TCG		0.607	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		25	94	0	0	0	0	25	94				
SLC34A2	10568	broad.mit.edu	37	4	25676182	25676182	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:25676182C>T	ENST00000382051.3	+	12	1439	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	SLC34A2_ENST00000504570.1_Silent_p.I462I|SLC34A2_ENST00000503434.1_Silent_p.I462I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	463					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCTCCAACATCGGCACCACCA	0.592			T	ROS1	NSCLC																																	uc003grr.2		NA		Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					0				skin(3)|ovary(1)|kidney(1)	5						c.(1387-1389)ATC>ATT		solute carrier family 34 (sodium phosphate),							98.0	92.0	94.0					4																	25676182		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25676182C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1389C>T	4.37:g.25676182C>T						SLC34A2_uc003grs.2_Silent_p.I462I|SLC34A2_uc010iev.2_Silent_p.I462I	p.I463I	NM_006424	NP_006415	O95436	NPT2B_HUMAN			12	1470	+		Breast(46;0.0503)	463			Extracellular (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.1389C>T	CCDS3435.1																																																																																				0.592	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		15	58	0	0	0	0	15	58				
SLC10A4	201780	broad.mit.edu	37	4	48490651	48490651	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:48490651G>C	ENST00000273861.4	+	3	1228	c.1009G>C	c.(1009-1011)Ggt>Cgt	p.G337R	ZAR1_ENST00000327939.4_5'Flank	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	337						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						TCTGGAAACAGGTAGTCAGAA	0.443																																						uc003gyc.2		NA																	0				central_nervous_system(1)	1						c.(1009-1011)GGT>CGT		solute carrier family 10, member 4							148.0	143.0	145.0					4																	48490651		2203	4300	6503	SO:0001583	missense	201780					integral to membrane	bile acid:sodium symporter activity	g.chr4:48490651G>C	BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.1009G>C	4.37:g.48490651G>C	ENSP00000273861:p.Gly337Arg					ZAR1_uc003gyd.2_5'Flank	p.G337R	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN			3	1228	+			337			Cytoplasmic (Potential).		Q8WUZ2	Missense_Mutation	SNP	ENST00000273861.4	37	c.1009G>C	CCDS3482.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427732	0.62733	.	.	ENSG00000145248	ENST00000273861	D	0.83673	-1.75	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.93462	0.7914	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94152	0.7406	10	0.87932	D	0	-15.3459	20.0099	0.97447	0.0:0.0:1.0:0.0	.	337	Q96EP9	NTCP4_HUMAN	R	337	ENSP00000273861:G337R	ENSP00000273861:G337R	G	+	1	0	SLC10A4	48185408	1.000000	0.71417	0.228000	0.23943	0.012000	0.07955	9.869000	0.99810	2.725000	0.93324	0.655000	0.94253	GGT		0.443	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679		36	95	0	0	0	0	36	95				
LPHN3	23284	broad.mit.edu	37	4	62679581	62679581	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:62679581C>G	ENST00000514591.1	+	8	1579	c.1250C>G	c.(1249-1251)tCt>tGt	p.S417C	LPHN3_ENST00000506720.1_Missense_Mutation_p.S485C|LPHN3_ENST00000507164.1_Missense_Mutation_p.S485C|LPHN3_ENST00000507625.1_Missense_Mutation_p.S485C|LPHN3_ENST00000506746.1_Missense_Mutation_p.S485C|LPHN3_ENST00000512091.2_Missense_Mutation_p.S417C|LPHN3_ENST00000508946.1_Missense_Mutation_p.S417C|LPHN3_ENST00000514996.1_Missense_Mutation_p.S417C|LPHN3_ENST00000511324.1_Missense_Mutation_p.S485C|LPHN3_ENST00000514157.1_Missense_Mutation_p.S417C|LPHN3_ENST00000508693.1_Missense_Mutation_p.S485C|LPHN3_ENST00000509896.1_Missense_Mutation_p.S485C|LPHN3_ENST00000506700.1_Missense_Mutation_p.S417C|LPHN3_ENST00000504896.1_Missense_Mutation_p.S417C|LPHN3_ENST00000545650.1_Missense_Mutation_p.S417C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	417					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						caccttgactctgagctagaa	0.383																																						uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1249-1251)TCT>TGT		latrophilin 3 precursor							116.0	107.0	110.0					4																	62679581		1919	4126	6045	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62679581C>G	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1250C>G	4.37:g.62679581C>G	ENSP00000422533:p.Ser417Cys					LPHN3_uc003hcq.3_Missense_Mutation_p.S417C|LPHN3_uc003hcs.1_Missense_Mutation_p.S246C	p.S417C	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			6	1423	+			417			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1250C>G	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198396	0.58126	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71817	-0.57;-0.56;-0.59;-0.6;-0.56;-0.56;-0.6;-0.6;-0.58;-0.56;-0.56;-0.55;-0.57;-0.58;-0.55	3.67	3.67	0.42095	.	0.479266	0.22138	N	0.064094	T	0.61986	0.2391	N	0.19112	0.55	0.28747	N	0.901625	D;D	0.61697	0.964;0.99	B;P	0.50192	0.431;0.634	T	0.60214	-0.7307	10	0.56958	D	0.05	.	11.1945	0.48704	0.0:1.0:0.0:0.0	.	417;417	E9PE04;Q9HAR2-2	.;.	C	417;417;485;485;417;417;417;417;417;485;485;485;417;417;417;485;485;417	ENSP00000423388:S417C;ENSP00000422533:S417C;ENSP00000423787:S485C;ENSP00000425033:S485C;ENSP00000424120:S417C;ENSP00000439831:S417C;ENSP00000421476:S485C;ENSP00000424030:S485C;ENSP00000421372:S485C;ENSP00000425201:S417C;ENSP00000423434:S417C;ENSP00000421627:S417C;ENSP00000420931:S485C;ENSP00000425884:S485C;ENSP00000424258:S417C	ENSP00000280009:S417C	S	+	2	0	LPHN3	62362176	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	2.846000	0.48262	2.343000	0.79666	0.563000	0.77884	TCT		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			7	40	0	0	0	0	7	40				
SULT1E1	6783	broad.mit.edu	37	4	70710039	70710039	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:70710039T>C	ENST00000226444.3	-	7	724	c.612A>G	c.(610-612)atA>atG	p.I204M		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	204					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	GTATCAATTTTATCACCTCTT	0.343																																						uc003heo.2		NA																	0				ovary(1)	1						c.(610-612)ATA>ATG		estrogen sulfotransferase							114.0	111.0	112.0					4																	70710039		2203	4300	6503	SO:0001583	missense	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70710039T>C	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.612A>G	4.37:g.70710039T>C	ENSP00000226444:p.Ile204Met						p.I204M	NM_005420	NP_005411	P49888	ST1E1_HUMAN			7	725	-			204			PAPS.		Q8N6X5	Missense_Mutation	SNP	ENST00000226444.3	37	c.612A>G	CCDS3531.1	.	.	.	.	.	.	.	.	.	.	T	2.433	-0.330398	0.05314	.	.	ENSG00000109193	ENST00000226444	D	0.81908	-1.55	3.99	-0.536	0.11876	Sulfotransferase domain (1);	1.375020	0.04535	N	0.386961	T	0.72317	0.3445	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.59263	-0.7487	10	0.56958	D	0.05	.	8.0122	0.30359	0.0:0.3365:0.0:0.6635	.	204	P49888	ST1E1_HUMAN	M	204	ENSP00000226444:I204M	ENSP00000226444:I204M	I	-	3	3	SULT1E1	70744628	0.000000	0.05858	0.029000	0.17559	0.155000	0.21991	-2.418000	0.01034	-0.115000	0.11915	-0.242000	0.12053	ATA		0.343	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420		8	63	0	0	0	0	8	63				
PPBP	5473	broad.mit.edu	37	4	74853901	74853901	+	5'UTR	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:74853901G>A	ENST00000296028.3	-	0	13					NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)						blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			CAAGTCTGCAGATAAGTGGCT	0.478																																						uc003hhj.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.e1-1		pro-platelet basic protein precursor																																				SO:0001623	5_prime_UTR_variant	5473				chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	g.chr4:74853901G>A	M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"""Endogenous ligands"""	9240	protein-coding gene	gene with protein product	"""platelet basic protein"", ""beta-thromboglobulin"", ""connective tissue-activating peptide III"", ""neutrophil-activating peptide-2"""	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.-81C>T	4.37:g.74853901G>A								NM_002704	NP_002695	P02775	CXCL7_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		1	1	-	Breast(15;0.00136)							B2R5F3|Q6IBJ8	Splice_Site	SNP	ENST00000296028.3	37	c.-79_splice	CCDS3563.1																																																																																				0.478	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252281.2	NM_002704		9	19	0	0	0	0	9	19				
CXCL3	2921	broad.mit.edu	37	4	74904074	74904074	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:74904074G>A	ENST00000296026.4	-	2	234	c.157C>T	c.(157-159)Cac>Tac	p.H53Y	CXCL3_ENST00000511669.1_5'UTR	NM_002090.2	NP_002081.2	P19876	CXCL3_HUMAN	chemokine (C-X-C motif) ligand 3	53					immune response (GO:0006955)|inflammatory response (GO:0006954)|neutrophil chemotaxis (GO:0030593)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			central_nervous_system(1)|endometrium(1)	2	Breast(15;0.00612)		all cancers(17;0.00273)|Lung(101;0.196)			TTCTTGAGGTGAATTCCCTGC	0.607																																						uc003hhl.2		NA																	0				central_nervous_system(1)	1						c.(157-159)CAC>TAC		chemokine (C-X-C motif) ligand 3							93.0	100.0	97.0					4																	74904074		2203	4300	6503	SO:0001583	missense	2921				immune response|inflammatory response|neutrophil chemotaxis	extracellular space	chemokine activity	g.chr4:74904074G>A	M36821	CCDS34007.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000163734		"""Endogenous ligands"""	4604	protein-coding gene	gene with protein product		139111	"""GRO3 oncogene"""	GRO3		2217207	Standard	NM_002090		Approved	SCYB3, GROg, MIP-2b, CINC-2b	uc003hhl.3	P19876		ENST00000296026.4:c.157C>T	4.37:g.74904074G>A	ENSP00000296026:p.His53Tyr						p.H53Y	NM_002090	NP_002081	P19876	CXCL3_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		2	319	-	Breast(15;0.00612)		53					Q4W5H9	Missense_Mutation	SNP	ENST00000296026.4	37	c.157C>T	CCDS34007.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502659	0.44455	.	.	ENSG00000163734	ENST00000296026	T	0.05081	3.5	3.65	3.65	0.41850	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.164825	0.53938	D	0.000055	T	0.30386	0.0763	M	0.93898	3.47	0.09310	N	1	D	0.71674	0.998	D	0.70227	0.968	T	0.18745	-1.0327	10	0.59425	D	0.04	.	11.2512	0.49026	0.0:0.0:1.0:0.0	.	53	P19876	CXCL3_HUMAN	Y	53	ENSP00000296026:H53Y	ENSP00000296026:H53Y	H	-	1	0	CXCL3	75122938	0.270000	0.24152	0.032000	0.17829	0.283000	0.27025	1.202000	0.32271	1.758000	0.51981	0.306000	0.20318	CAC		0.607	CXCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362721.1			15	61	0	0	0	0	15	61				
KIAA1109	84162	broad.mit.edu	37	4	123109097	123109097	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:123109097C>G	ENST00000264501.4	+	9	1048	c.675C>G	c.(673-675)atC>atG	p.I225M	KIAA1109_ENST00000455637.1_Missense_Mutation_p.I225M|KIAA1109_ENST00000388738.3_Missense_Mutation_p.I225M			Q2LD37	K1109_HUMAN	KIAA1109	225					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTCTGTGCATCAACTTTGATG	0.358																																						uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(673-675)ATC>ATG		fragile site-associated protein							124.0	111.0	115.0					4																	123109097		1855	4084	5939	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123109097C>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.675C>G	4.37:g.123109097C>G	ENSP00000264501:p.Ile225Met					KIAA1109_uc003iei.1_Translation_Start_Site	p.I225M	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			7	720	+			225					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.675C>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.46|10.46	1.357373|1.357373	0.24598|0.24598	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	D;D;D|.	0.95949|.	-3.86;-3.86;-3.86|.	5.59|5.59	1.4|1.4	0.22301|0.22301	.|.	0.300226|.	0.20429|.	U|.	0.092517|.	T|T	0.32912|0.32912	0.0845|0.0845	N|N	0.16368|0.16368	0.405|0.405	0.38235|0.38235	D|D	0.941155|0.941155	B|.	0.17465|.	0.022|.	B|.	0.14023|.	0.01|.	T|T	0.09400|0.09400	-1.0676|-1.0676	10|5	0.45353|.	T|.	0.12|.	.|.	4.1882|4.1882	0.10409|0.10409	0.0:0.3092:0.1844:0.5065|0.0:0.3092:0.1844:0.5065	.|.	225|.	Q2LD37|.	K1109_HUMAN|.	M|E	225|58	ENSP00000264501:I225M;ENSP00000373390:I225M;ENSP00000389925:I225M|.	ENSP00000264501:I225M|.	I|Q	+|+	3|1	3|0	KIAA1109|KIAA1109	123328547|123328547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.768000|0.768000	0.43524|0.43524	1.386000|1.386000	0.34419|0.34419	0.323000|0.323000	0.23307|0.23307	-0.254000|-0.254000	0.11334|0.11334	ATC|CAA		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		13	52	0	0	0	0	13	52				
SPATA5	166378	broad.mit.edu	37	4	123844435	123844435	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:123844435G>A	ENST00000274008.4	+	1	207	c.138G>A	c.(136-138)ctG>ctA	p.L46L	NUDT6_ENST00000339154.2_5'Flank|SPATA5_ENST00000422835.2_3'UTR|NUDT6_ENST00000304430.5_5'Flank	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	46					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CCGGGACTCTGACGGTGACCA	0.587																																						uc003iez.3		NA																	0					0						c.(136-138)CTG>CTA		spermatogenesis associated 5							93.0	102.0	99.0					4																	123844435		2203	4300	6503	SO:0001819	synonymous_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123844435G>A	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.138G>A	4.37:g.123844435G>A						SPATA5_uc003iey.2_Silent_p.L46L|NUDT6_uc003iew.2_5'Flank|NUDT6_uc003iex.2_5'Flank	p.L46L	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN			1	211	+			46					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	c.138G>A	CCDS3730.1																																																																																				0.587	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		35	84	0	0	0	0	35	84				
FAT4	79633	broad.mit.edu	37	4	126238052	126238052	+	Silent	SNP	G	G	T	rs536273288	byFrequency	TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:126238052G>T	ENST00000394329.3	+	1	499	c.486G>T	c.(484-486)tcG>tcT	p.S162S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	162	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCACCGACTCGGACATCGGCT	0.617											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(484-486)TCG>TCT		FAT tumor suppressor homolog 4 precursor							35.0	39.0	38.0					4																	126238052		2084	4205	6289	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238052G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.486G>T	4.37:g.126238052G>T			OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.S162S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	486	+			162			Cadherin 2.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.486G>T	CCDS3732.3																																																																																				0.617	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		3	24	1	0	0.00909568	0.00932409	3	24				
SETD7	80854	broad.mit.edu	37	4	140468192	140468192	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:140468192C>T	ENST00000274031.3	-	2	688	c.52G>A	c.(52-54)Gat>Aat	p.D18N	SETD7_ENST00000506866.2_Missense_Mutation_p.D18N|SETD7_ENST00000404104.3_Missense_Mutation_p.D18N|SETD7_ENST00000406354.1_5'UTR	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	18					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					AATCCGTCATCGTCCAGGTGC	0.522																																						uc003ihw.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(52-54)GAT>AAT		SET domain-containing protein 7							86.0	77.0	80.0					4																	140468192		2203	4300	6503	SO:0001583	missense	80854				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	g.chr4:140468192C>T	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.52G>A	4.37:g.140468192C>T	ENSP00000274031:p.Asp18Asn					SETD7_uc003ihx.2_Missense_Mutation_p.D18N	p.D18N	NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN			2	338	-	all_hematologic(180;0.156)		18					B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	ENST00000274031.3	37	c.52G>A	CCDS3748.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027844	0.93518	.	.	ENSG00000145391	ENST00000506866;ENST00000274031;ENST00000404104	T;T;T	0.41758	1.47;1.51;0.99	6.07	6.07	0.98685	.	0.094046	0.64402	D	0.000001	T	0.50446	0.1616	L	0.38531	1.155	0.80722	D	1	D;P	0.61697	0.99;0.799	P;B	0.55055	0.767;0.333	T	0.19549	-1.0302	10	0.29301	T	0.29	-18.3734	20.6593	0.99626	0.0:1.0:0.0:0.0	.	18;18	B5MCZ8;Q8WTS6	.;SETD7_HUMAN	N	18	ENSP00000427300:D18N;ENSP00000274031:D18N;ENSP00000385913:D18N	ENSP00000274031:D18N	D	-	1	0	SETD7	140687642	1.000000	0.71417	0.330000	0.25442	0.391000	0.30476	7.313000	0.78978	2.885000	0.99019	0.655000	0.94253	GAT		0.522	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		13	40	0	0	0	0	13	40				
MAML3	55534	broad.mit.edu	37	4	140811093	140811093	+	Silent	SNP	C	C	T	rs574825040|rs544518608|rs58287721	byFrequency	TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:140811093C>T	ENST00000509479.2	-	2	2353	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	MAML3_ENST00000327122.5_Silent_p.Q343Q|MAML3_ENST00000398940.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.527													c|||	4	0.000798722	0.0008	0.0029	5008	,	,		15568	0.0		0.001	False		,,,				2504	0.0					uc003ihz.1		NA																	0				ovary(1)	1						c.(1495-1497)CAG>CAA		mastermind-like 3							15.0	22.0	20.0					4																	140811093		2118	4262	6380	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811093C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1497G>A	4.37:g.140811093C>T						MAML3_uc011chd.1_Intron	p.Q499Q	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN			2	2249	-	all_hematologic(180;0.162)		499			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1497G>A	CCDS54805.1																																																																																				0.527	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	29	0	0	0	0	4	29				
MAP9	79884	broad.mit.edu	37	4	156281397	156281397	+	Missense_Mutation	SNP	C	C	A	rs373132442		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:156281397C>A	ENST00000311277.4	-	7	1236	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000608762.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.D301Y|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000596754.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	325					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)		p.D325Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GTTCTGTCATCATCCATAATC	0.378																																						uc003ios.2		NA																	1	Substitution - Missense(1)	p.D325Y(1)	ovary(1)	ovary(1)|central_nervous_system(1)	2						c.(973-975)GAT>TAT		aster-associated protein							158.0	144.0	149.0					4																	156281397		2203	4300	6503	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156281397C>A	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.973G>T	4.37:g.156281397C>A	ENSP00000310593:p.Asp325Tyr					MAP9_uc011cin.1_Missense_Mutation_p.D300Y|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.D324Y	p.D325Y	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	7	1237	-	all_hematologic(180;0.24)	Renal(120;0.0458)	325			Potential.		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.973G>T	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.071795	0.55646	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836	T;T;T	0.34275	2.1;2.08;1.37	5.15	4.29	0.51040	.	0.465598	0.21348	N	0.076010	T	0.42966	0.1226	M	0.63428	1.95	0.23113	N	0.998277	P;B;P	0.35656	0.514;0.384;0.514	P;P;P	0.45377	0.452;0.478;0.452	T	0.38112	-0.9676	10	0.56958	D	0.05	-4.7399	8.9212	0.35612	0.0:0.8999:0.0:0.1001	.	300;325;325	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	Y	325;301;324;325	ENSP00000310593:D325Y;ENSP00000427402:D301Y;ENSP00000394048:D324Y	ENSP00000310593:D325Y	D	-	1	0	MAP9	156500847	0.013000	0.17824	0.005000	0.12908	0.008000	0.06430	2.158000	0.42329	2.559000	0.86315	0.591000	0.81541	GAT		0.378	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		13	42	1	0	9.31e-06	9.87e-06	13	42				
MTNR1A	4543	broad.mit.edu	37	4	187455394	187455394	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:187455394G>C	ENST00000307161.5	-	2	703	c.502C>G	c.(502-504)Ctc>Gtc	p.L168V	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	168					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TCGTACTGGAGAGTCCCTGCA	0.602																																						uc003izd.1		NA																	0				ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(502-504)CTC>GTC		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)						127.0	104.0	112.0					4																	187455394		2203	4300	6503	SO:0001583	missense	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455394G>C		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.502C>G	4.37:g.187455394G>C	ENSP00000302811:p.Leu168Val						p.L168V	NM_005958	NP_005949	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	520	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	168			Extracellular (Potential).		A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	c.502C>G	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260906	0.23051	.	.	ENSG00000168412	ENST00000307161	T	0.37584	1.19	4.96	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.066161	0.64402	D	0.000010	T	0.39410	0.1077	M	0.67569	2.06	0.53688	D	0.999977	P	0.36974	0.576	P	0.44673	0.457	T	0.10800	-1.0614	10	0.16420	T	0.52	-20.871	8.9846	0.35986	0.079:0.149:0.7719:0.0	.	168	P48039	MTR1A_HUMAN	V	168	ENSP00000302811:L168V	ENSP00000302811:L168V	L	-	1	0	MTNR1A	187692388	1.000000	0.71417	0.542000	0.28115	0.021000	0.10359	5.587000	0.67510	2.295000	0.77249	0.655000	0.94253	CTC		0.602	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			13	60	0	0	0	0	13	60				
FAT1	2195	broad.mit.edu	37	4	187628329	187628329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:187628329G>A	ENST00000441802.2	-	2	2862	c.2653C>T	c.(2653-2655)Cga>Tga	p.R885*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	885	Cadherin 7. {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						TGCAGCTCTCGATCCAGAGGG	0.512										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.(2653-2655)CGA>TGA		FAT tumor suppressor 1 precursor							106.0	103.0	104.0					4																	187628329		2025	4199	6224	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.chr4:187628329G>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.2653C>T	4.37:g.187628329G>A	ENSP00000406229:p.Arg885*	HNSCC(5;0.00058)				FAT1_uc010iso.1_Nonsense_Mutation_p.R885*	p.R885*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	2841	-			885			Extracellular (Potential).|Cadherin 7.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.2653C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	39	7.531466	0.98342	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.6	4.6	0.57074	.	0.108528	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9981	0.58660	0.0:0.0:0.8386:0.1614	.	.	.	.	X	885	.	ENSP00000260147:R885X	R	-	1	2	FAT1	187865323	1.000000	0.71417	0.992000	0.48379	0.011000	0.07611	4.410000	0.59774	2.544000	0.85801	0.491000	0.48974	CGA		0.512	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		13	64	0	0	0	0	13	64				
TARS	6897	broad.mit.edu	37	5	33455163	33455163	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:33455163C>T	ENST00000265112.3	+	5	878	c.567C>T	c.(565-567)ctC>ctT	p.L189L	TARS_ENST00000502553.1_Silent_p.L189L|TARS_ENST00000455217.2_Silent_p.L222L|TARS_ENST00000541634.1_Silent_p.L85L|TARS_ENST00000414361.2_Silent_p.L68L	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	189					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	ACATGTACCTCGAAGAAGGGT	0.388																																						uc003jhy.2		NA																	0				ovary(2)	2						c.(565-567)CTC>CTT		threonyl-tRNA synthetase	L-Threonine(DB00156)						83.0	78.0	80.0					5																	33455163		2203	4300	6503	SO:0001819	synonymous_variant	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33455163C>T	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.567C>T	5.37:g.33455163C>T						TARS_uc011cob.1_Silent_p.L177L|TARS_uc010iup.1_Silent_p.L130L|TARS_uc011coc.1_Silent_p.L210L|TARS_uc003jhz.2_Silent_p.L85L|TARS_uc011cod.1_Silent_p.L68L	p.L189L	NM_152295	NP_689508	P26639	SYTC_HUMAN			5	862	+			189					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Silent	SNP	ENST00000265112.3	37	c.567C>T	CCDS3899.1																																																																																				0.388	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		13	27	0	0	0	0	13	27				
NIPBL	25836	broad.mit.edu	37	5	36976261	36976261	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:36976261C>G	ENST00000282516.8	+	9	1751	c.1252C>G	c.(1252-1254)Caa>Gaa	p.Q418E	NIPBL_ENST00000448238.2_Missense_Mutation_p.Q418E|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	418	Gln-rich.				brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAATGCTGCTCAATGTTTGTC	0.413																																						uc003jkl.3		NA																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(1252-1254)CAA>GAA		delangin isoform A							76.0	81.0	79.0					5																	36976261		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36976261C>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1252C>G	5.37:g.36976261C>G	ENSP00000282516:p.Gln418Glu					NIPBL_uc003jkk.3_Missense_Mutation_p.Q418E|NIPBL_uc003jkm.1_Missense_Mutation_p.Q297E	p.Q418E	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		9	1751	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		418			Gln-rich.		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.1252C>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596661	0.46318	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93307	-3.2;-3.2	5.58	5.58	0.84498	.	0.144833	0.48286	D	0.000186	D	0.91556	0.7333	N	0.24115	0.695	0.33768	D	0.622722	P;P	0.43578	0.713;0.811	P;P	0.54924	0.585;0.764	D	0.87797	0.2622	10	0.05620	T	0.96	.	17.7479	0.88426	0.0:1.0:0.0:0.0	.	418;418	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	E	418	ENSP00000282516:Q418E;ENSP00000406266:Q418E	ENSP00000282516:Q418E	Q	+	1	0	NIPBL	37012018	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.976000	0.56867	2.641000	0.89580	0.460000	0.39030	CAA		0.413	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		21	58	0	0	0	0	21	58				
SREK1	140890	broad.mit.edu	37	5	65459693	65459693	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:65459693G>C	ENST00000380918.3	+	7	1141	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_Missense_Mutation_p.E277Q	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	161					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						GGAGTTAGAAGAAGTAATGAA	0.368																																					GBM(10;31 347 27684 38976 41583)	uc003juo.2		NA																	0					0						c.(481-483)GAA>CAA		splicing factor, arginine/serine-rich 12 isoform							133.0	124.0	127.0					5																	65459693		2203	4300	6503	SO:0001583	missense	140890				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding	g.chr5:65459693G>C	AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.481G>C	5.37:g.65459693G>C	ENSP00000370305:p.Glu161Gln					SFRS12_uc003jun.2_Missense_Mutation_p.E277Q|SFRS12_uc010iwy.2_Missense_Mutation_p.E161Q	p.E161Q	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN		Lung(70;0.00449)	7	1141	+		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)	161					A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	37	c.481G>C	CCDS3991.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044523	0.55110	.	.	ENSG00000153914	ENST00000334121;ENST00000537482;ENST00000380918	T;T	0.53640	0.63;0.61	5.5	5.5	0.81552	.	0.258715	0.44902	D	0.000414	T	0.66528	0.2798	M	0.73598	2.24	0.44168	D	0.996978	D;D;D	0.69078	0.997;0.982;0.99	P;P;P	0.58721	0.844;0.702;0.844	T	0.69243	-0.5196	10	0.59425	D	0.04	.	19.0171	0.92899	0.0:0.0:1.0:0.0	.	161;161;277	Q69YM5;Q8WXA9;Q8WXA9-2	.;SREK1_HUMAN;.	Q	277;277;161	ENSP00000334538:E277Q;ENSP00000370305:E161Q	ENSP00000334538:E277Q	E	+	1	0	SREK1	65495449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.237000	0.78164	2.585000	0.87301	0.462000	0.41574	GAA		0.368	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		18	61	0	0	0	0	18	61				
BDP1	55814	broad.mit.edu	37	5	70841044	70841044	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:70841044G>A	ENST00000358731.4	+	32	7005	c.6742G>A	c.(6742-6744)Gag>Aag	p.E2248K	BDP1_ENST00000380675.2_Missense_Mutation_p.E384K	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2248					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCCTGTGCCAGAGGTAAAAGA	0.373																																						uc003kbp.1		NA																	0				skin(2)	2						c.(6742-6744)GAG>AAG		transcription factor-like nuclear regulator							83.0	76.0	78.0					5																	70841044		1832	4088	5920	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70841044G>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6742G>A	5.37:g.70841044G>A	ENSP00000351575:p.Glu2248Lys					BDP1_uc003kbo.2_Missense_Mutation_p.E2248K|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	p.E2248K	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	32	7005	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2248					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.6742G>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282984	0.59867	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.53423	3.46;0.62	4.45	-1.18	0.09617	.	0.452989	0.20891	N	0.083835	T	0.36441	0.0967	L	0.29908	0.895	0.23287	N	0.99798	B;P	0.50819	0.297;0.939	B;P	0.50192	0.078;0.634	T	0.25433	-1.0132	10	0.39692	T	0.17	.	5.883	0.18866	0.1955:0.4786:0.3259:0.0	.	2248;2248	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	K	2248;1796;384;384	ENSP00000351575:E2248K;ENSP00000370050:E384K	ENSP00000351575:E2248K	E	+	1	0	BDP1	70876800	0.325000	0.24660	0.512000	0.27736	0.720000	0.41350	0.164000	0.16542	-0.044000	0.13491	0.655000	0.94253	GAG		0.373	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		12	48	0	0	0	0	12	48				
PPIP5K2	23262	broad.mit.edu	37	5	102472491	102472491	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:102472491C>T	ENST00000358359.3	+	4	875	c.366C>T	c.(364-366)atC>atT	p.I122I	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Silent_p.I122I|PPIP5K2_ENST00000414217.1_Silent_p.I122I	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	122					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CATTTGTAATCAATGACTTGA	0.338																																						uc003kod.3		NA																	0				ovary(1)|skin(1)	2						c.(364-366)ATC>ATT		Histidine acid phosphatase domain containing 1							183.0	196.0	192.0					5																	102472491		2203	4300	6503	SO:0001819	synonymous_variant	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102472491C>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.366C>T	5.37:g.102472491C>T						PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Silent_p.I122I|PPIP5K2_uc010jbo.1_Silent_p.I44I	p.I122I	NM_015216	NP_056031	O43314	VIP2_HUMAN			4	885	+			122					A1NI53|A6NGS8|Q8TB50	Silent	SNP	ENST00000358359.3	37	c.366C>T																																																																																					0.338	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		42	135	0	0	0	0	42	135				
FBXL17	64839	broad.mit.edu	37	5	107700445	107700445	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:107700445G>C	ENST00000542267.1	-	3	1774	c.1368C>G	c.(1366-1368)ctC>ctG	p.L456L	FBXL17_ENST00000496714.1_Silent_p.L58L|FBXL17_ENST00000359660.5_Silent_p.L58L	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	456										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TTACCTGCTTGAGTCCTTCAT	0.343																																						uc011cvc.1		NA																	0					0						c.(1366-1368)CTC>CTG		F-box and leucine-rich repeat protein 17							78.0	79.0	79.0					5																	107700445		2202	4299	6501	SO:0001819	synonymous_variant	64839							g.chr5:107700445G>C	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1368C>G	5.37:g.107700445G>C						FBXL17_uc003kon.3_Silent_p.L58L	p.L456L	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	3	1775	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	456					A1A4E3	Silent	SNP	ENST00000542267.1	37	c.1368C>G	CCDS54886.1																																																																																				0.343	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				19	60	0	0	0	0	19	60				
MCC	4163	broad.mit.edu	37	5	112418582	112418582	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:112418582C>T	ENST00000302475.4	-	9	1752	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.E587K|MCC_ENST00000515367.2_Missense_Mutation_p.E334K	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	397					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTTTCCACCTCAAACTCTCTA	0.478																																						uc003kqj.3		NA																	0				ovary(1)	1						c.(1189-1191)GAG>AAG		mutated in colorectal cancers isoform 2							253.0	209.0	224.0					5																	112418582		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112418582C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1189G>A	5.37:g.112418582C>T	ENSP00000305617:p.Glu397Lys					MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.E587K|MCC_uc011cwb.1_Missense_Mutation_p.E397K|MCC_uc010jcd.1_Missense_Mutation_p.E359K	p.E397K	NM_002387	NP_002378	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	9	1719	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	397					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.1189G>A	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816792	0.90790	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.39787	2.21;2.21;1.06	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	L	0.27053	0.805	0.58432	D	0.999998	P;P;D;D	0.67145	0.956;0.458;0.974;0.996	P;B;D;D	0.70227	0.899;0.292;0.953;0.968	T	0.48502	-0.9030	10	0.33141	T	0.24	-25.6751	18.1526	0.89679	0.0:1.0:0.0:0.0	.	397;359;587;397	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	K	397;334;587	ENSP00000305617:E397K;ENSP00000421615:E334K;ENSP00000386227:E587K	ENSP00000305617:E397K	E	-	1	0	MCC	112446481	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.180000	0.71981	2.356000	0.79943	0.467000	0.42956	GAG		0.478	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		23	81	0	0	0	0	23	81				
FBN2	2201	broad.mit.edu	37	5	127637197	127637197	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:127637197C>G	ENST00000508053.1	-	53	6897	c.5923G>C	c.(5923-5925)Gat>Cat	p.D1975H	FBN2_ENST00000262464.4_Missense_Mutation_p.D1975H			P35556	FBN2_HUMAN	fibrillin 2	1975	EGF-like 33; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGCACTCATCTATGTCTGTA	0.353																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(5923-5925)GAT>CAT		fibrillin 2 precursor							132.0	131.0	132.0					5																	127637197		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127637197C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5923G>C	5.37:g.127637197C>G	ENSP00000424571:p.Asp1975His						p.D1975H	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	47	6362	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1975			EGF-like 33; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5923G>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816365	0.90790	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.95622	-3.76;-3.76	5.33	5.33	0.75918	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000006	D	0.98713	0.9568	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99391	1.0925	10	0.87932	D	0	.	19.2185	0.93788	0.0:1.0:0.0:0.0	.	1975	P35556	FBN2_HUMAN	H	1975	ENSP00000262464:D1975H;ENSP00000424571:D1975H	ENSP00000262464:D1975H	D	-	1	0	FBN2	127665096	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.794000	0.62482	2.774000	0.95407	0.650000	0.86243	GAT		0.353	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		26	73	0	0	0	0	26	73				
HSPA4	3308	broad.mit.edu	37	5	132439956	132439956	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:132439956C>G	ENST00000304858.2	+	19	2640	c.2351C>G	c.(2350-2352)tCa>tGa	p.S784*		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	784					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTATAATTTCAAAGCCCAAA	0.433																																					Colon(114;1299 1588 6063 12302 48757)	uc003kyj.2		NA																	0				lung(1)|breast(1)	2						c.(2350-2352)TCA>TGA		heat shock 70kDa protein 4							50.0	51.0	51.0					5																	132439956		2203	4300	6503	SO:0001587	stop_gained	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132439956C>G	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.2351C>G	5.37:g.132439956C>G	ENSP00000302961:p.Ser784*						p.S784*	NM_002154	NP_002145	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		19	2632	+			784					O95756|Q2TAL4|Q9BUK9	Nonsense_Mutation	SNP	ENST00000304858.2	37	c.2351C>G	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	C	40	8.382022	0.98786	.	.	ENSG00000170606	ENST00000304858	.	.	.	5.61	5.61	0.85477	.	0.163751	0.52532	D	0.000069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.7155	15.0206	0.71627	0.21:0.79:0.0:0.0	.	.	.	.	X	784	.	ENSP00000302961:S784X	S	+	2	0	HSPA4	132467855	0.999000	0.42202	1.000000	0.80357	0.946000	0.59487	2.123000	0.41996	2.633000	0.89246	0.453000	0.30009	TCA		0.433	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		11	41	0	0	0	0	11	41				
SMAD5	4090	broad.mit.edu	37	5	135496568	135496568	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:135496568C>T	ENST00000545279.1	+	4	787	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	SMAD5_ENST00000514641.2_3'UTR|SMAD5_ENST00000545620.1_Missense_Mutation_p.R143C	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	143					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTAGTGCCTCGTCATAATGA	0.418																																						uc003lbj.1		NA																	0					0						c.(427-429)CGT>TGT		SMAD family member 5							150.0	151.0	151.0					5																	135496568		1902	4134	6036	SO:0001583	missense	4090				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr5:135496568C>T	U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.427C>T	5.37:g.135496568C>T	ENSP00000441954:p.Arg143Cys					SMAD5_uc003lbk.1_Missense_Mutation_p.R143C|SMAD5_uc003lbl.1_Missense_Mutation_p.R143C	p.R143C	NM_001001419	NP_001001419	Q99717	SMAD5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	871	+			143					O14688|Q15798|Q9UQA1	Missense_Mutation	SNP	ENST00000545279.1	37	c.427C>T		.	.	.	.	.	.	.	.	.	.	C	20.7	4.036680	0.75617	.	.	ENSG00000113658	ENST00000545279;ENST00000545620	D;D	0.93488	-3.23;-3.23	5.59	4.67	0.58626	.	0.057825	0.64402	D	0.000001	D	0.96383	0.8820	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96512	0.9379	10	0.87932	D	0	.	13.774	0.63041	0.228:0.772:0.0:0.0	.	143	F5GWU7	.	C	143	ENSP00000441954:R143C;ENSP00000446474:R143C	ENSP00000425018:R143C	R	+	1	0	SMAD5	135524467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.341000	0.33907	2.615000	0.88500	0.650000	0.86243	CGT		0.418	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005903		22	91	0	0	0	0	22	91				
SLC23A1	9963	broad.mit.edu	37	5	138707763	138707763	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:138707763C>T	ENST00000348729.3	-	14	1775	c.1729G>A	c.(1729-1731)Gat>Aat	p.D577N	CTB-43P18.1_ENST00000503553.3_RNA|SLC23A1_ENST00000353963.3_Missense_Mutation_p.D581N	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	577					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GCAATCTGATCTTTTGAACTT	0.398																																						uc003leh.2		NA																	0					0						c.(1729-1731)GAT>AAT		solute carrier family 23 (nucleobase	Vitamin C(DB00126)						163.0	162.0	162.0					5																	138707763		2203	4300	6503	SO:0001583	missense	9963				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	g.chr5:138707763C>T	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.1729G>A	5.37:g.138707763C>T	ENSP00000302701:p.Asp577Asn					SLC23A1_uc003leg.2_Missense_Mutation_p.D581N	p.D577N	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		14	1826	-			577					O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	c.1729G>A	CCDS4212.1	.	.	.	.	.	.	.	.	.	.	C	7.416	0.635651	0.14322	.	.	ENSG00000170482	ENST00000353963;ENST00000348729;ENST00000339881	T;T	0.17370	2.28;2.28	6.02	2.05	0.26809	.	1.625690	0.02790	N	0.121991	T	0.09202	0.0227	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.29150	-1.0021	10	0.18710	T	0.47	0.7069	4.6254	0.12476	0.0:0.3925:0.158:0.4495	.	577;581	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	N	581;577;238	ENSP00000302851:D581N;ENSP00000302701:D577N	ENSP00000343584:D238N	D	-	1	0	SLC23A1	138735662	0.000000	0.05858	0.018000	0.16275	0.902000	0.53008	-0.334000	0.07883	0.083000	0.17047	0.650000	0.86243	GAT		0.398	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		37	138	0	0	0	0	37	138				
UBE2D2	7322	broad.mit.edu	37	5	138979957	138979957	+	Splice_Site	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:138979957G>C	ENST00000398733.3	+	2	651	c.25G>C	c.(25-27)Gaa>Caa	p.E9Q	UBE2D2_ENST00000253815.2_5'UTR|UBE2D2_ENST00000511725.1_5'UTR|UBE2D2_ENST00000505548.1_5'UTR	NM_003339.2	NP_003330.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	9					cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTTCTGTAGGAATTGAATGA	0.348																																						uc003ler.2		NA																	0				central_nervous_system(1)	1						c.(25-27)GAA>CAA		ubiquitin-conjugating enzyme E2D 2 isoform 1							59.0	58.0	58.0					5																	138979957		1842	4113	5955	SO:0001630	splice_region_variant	7322				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr5:138979957G>C	L40146	CCDS43369.1, CCDS47275.1	5q31.2	2013-10-18	2011-05-19		ENSG00000131508	ENSG00000131508		"""Ubiquitin-conjugating enzymes E2"""	12475	protein-coding gene	gene with protein product		602962	"""ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181838		Approved	UbcH5B, UBC4	uc003ler.3	P62837	OTTHUMG00000163282	ENST00000398733.3:c.25-1G>C	5.37:g.138979957G>C						UBE2D2_uc003leq.2_5'UTR	p.E9Q	NM_003339	NP_003330	P62837	UB2D2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	651	+			9					D3DQC9|P51669|Q3MN78|Q96RP6	Missense_Mutation	SNP	ENST00000398733.3	37	c.25G>C	CCDS43369.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268157	0.80469	.	.	ENSG00000131508	ENST00000398733;ENST00000398734	D;D	0.83673	-1.75;-1.75	5.01	5.01	0.66863	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.92224	0.7534	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93337	0.6706	9	.	.	.	.	16.066	0.80870	0.0:0.0:1.0:0.0	.	9	P62837	UB2D2_HUMAN	Q	9	ENSP00000381717:E9Q;ENSP00000381718:E9Q	.	E	+	1	0	UBE2D2	138960141	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	8.125000	0.89590	2.330000	0.79161	0.563000	0.77884	GAA		0.348	UBE2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372454.3	NM_181838	Missense_Mutation	9	24	0	0	0	0	9	24				
PCDHB15	56121	broad.mit.edu	37	5	140625334	140625334	+	Missense_Mutation	SNP	G	G	A	rs2907300	byFrequency	TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:140625334G>A	ENST00000231173.3	+	1	188	c.188G>A	c.(187-189)gGa>gAa	p.G63E		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	63	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGAGCGGGGAGCCCGGGTA	0.552																																						uc003lje.2		NA																	0				ovary(2)|breast(2)|skin(1)	5						c.(187-189)GGA>GAA		protocadherin beta 15 precursor							48.0	56.0	53.0					5																	140625334		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625334G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.188G>A	5.37:g.140625334G>A	ENSP00000231173:p.Gly63Glu						p.G63E	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	188	+			63			Extracellular (Potential).|Cadherin 1.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.188G>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	g	5.946	0.358509	0.11239	.	.	ENSG00000113248	ENST00000231173	T	0.28069	1.63	4.92	0.992	0.19819	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.39332	0.1074	N	0.17631	0.505	0.09310	N	1	B	0.20164	0.042	P	0.54924	0.764	T	0.61787	-0.6991	9	0.39692	T	0.17	.	8.6527	0.34044	0.3355:0.0:0.6645:0.0	rs2907300;rs2907300	63	Q9Y5E8	PCDBF_HUMAN	E	63	ENSP00000231173:G63E	ENSP00000231173:G63E	G	+	2	0	PCDHB15	140605518	0.000000	0.05858	0.960000	0.40013	0.330000	0.28571	-0.931000	0.03967	0.202000	0.20498	-0.339000	0.08088	GGA		0.552	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		11	40	0	0	0	0	11	40				
PCDHGA5	56110	broad.mit.edu	37	5	140743929	140743929	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:140743929G>A	ENST00000518069.1	+	1	32	c.32G>A	c.(31-33)gGa>gAa	p.G11E	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	11					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGCTGCGGAGAGCTGCTG	0.582																																						uc003lju.1		NA																	0				ovary(4)	4						c.(31-33)GGA>GAA		protocadherin gamma subfamily A, 5 isoform 1							35.0	45.0	42.0					5																	140743929		2092	4240	6332	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140743929G>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.32G>A	5.37:g.140743929G>A	ENSP00000429834:p.Gly11Glu					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_uc011das.1_Missense_Mutation_p.G11E	p.G11E	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	32	+			11					Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.32G>A	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	10.65	1.409405	0.25378	.	.	ENSG00000253485	ENST00000518069	T	0.44881	0.91	5.42	-0.168	0.13343	.	.	.	.	.	T	0.15998	0.0385	N	0.11064	0.09	0.09310	N	1	B;B	0.27068	0.009;0.167	B;B	0.29598	0.038;0.104	T	0.26985	-1.0087	9	0.02654	T	1	.	1.931	0.03327	0.3859:0.1174:0.3671:0.1295	.	11;11	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	E	11	ENSP00000429834:G11E	ENSP00000429834:G11E	G	+	2	0	PCDHGA5	140724113	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-0.567000	0.05916	0.021000	0.15133	0.563000	0.77884	GGA		0.582	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		6	20	0	0	0	0	6	20				
SPINK9	643394	broad.mit.edu	37	5	147715230	147715230	+	Splice_Site	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:147715230C>T	ENST00000377906.1	+	1	109	c.54C>T	c.(52-54)ttC>ttT	p.F18F	RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000511717.2_Intron	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	18					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCATGTTCAGTGAGTATC	0.433																																						uc003lpe.1		NA																	0					0						c.(52-54)TTC>TTT		serine peptidase inhibitor, Kazal type 9							242.0	195.0	211.0					5																	147715230		2203	4300	6503	SO:0001630	splice_region_variant	643394					extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147715230C>T	AY396740	CCDS34269.1	5q33.1	2011-08-31				ENSG00000204909		"""Serine peptidase inhibitors, Kazal type"""	32951	protein-coding gene	gene with protein product		613511					Standard	NM_001040433		Approved		uc003lpe.1	Q5DT21		ENST00000377906.1:c.55+1C>T	5.37:g.147715230C>T						uc003lpb.1_Intron	p.F18F	NM_001040433	NP_001035523	Q5DT21	ISK9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	109	+			18					B2RPN9	Silent	SNP	ENST00000377906.1	37	c.54C>T	CCDS34269.1																																																																																				0.433	SPINK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373382.1	NM_001040433	Silent	10	80	0	0	0	0	10	80				
ZNF300	91975	broad.mit.edu	37	5	150275396	150275396	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:150275396C>G	ENST00000274599.5	-	6	1825	c.1405G>C	c.(1405-1407)Gaa>Caa	p.E469Q	ZNF300_ENST00000446148.2_Missense_Mutation_p.E485Q|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.E469Q|ZNF300_ENST00000418587.2_Missense_Mutation_p.E433Q	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	469					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(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCCACATTCAGTACATTCA	0.413																																						uc003lsy.1		NA																	0				ovary(1)|skin(1)	2						c.(1405-1407)GAA>CAA		zinc finger protein 300							84.0	79.0	81.0					5																	150275396		2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150275396C>G	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.1405G>C	5.37:g.150275396C>G	ENSP00000274599:p.Glu469Gln					IRGM_uc011dcl.1_Intron	p.E469Q	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1672	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	469			C2H2-type 8.		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.1405G>C	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	9.618	1.133144	0.21041	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	3.64	3.64	0.41730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24275	0.0588	N	0.12961	0.28	0.09310	N	1	B	0.31009	0.303	B	0.30251	0.113	T	0.19844	-1.0293	9	0.54805	T	0.06	.	13.2452	0.60020	0.0:1.0:0.0:0.0	.	469	Q96RE9	ZN300_HUMAN	Q	485;469;433;469	ENSP00000397178:E485Q;ENSP00000274599:E469Q;ENSP00000392593:E433Q;ENSP00000377773:E469Q	ENSP00000274599:E469Q	E	-	1	0	ZNF300	150255589	0.000000	0.05858	0.999000	0.59377	0.992000	0.81027	0.469000	0.22067	2.059000	0.61396	0.591000	0.81541	GAA		0.413	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		12	45	0	0	0	0	12	45				
GRIA1	2890	broad.mit.edu	37	5	153026577	153026577	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:153026577C>T	ENST00000285900.5	+	3	653	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Missense_Mutation_p.L35F|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Missense_Mutation_p.L114F|GRIA1_ENST00000448073.4_Missense_Mutation_p.L114F|GRIA1_ENST00000340592.5_Missense_Mutation_p.L104F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	104					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|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)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTGTGGGGCCCTCCACGTCTG	0.498																																						uc003lva.3		NA																	0				ovary(4)|skin(2)	6						c.(310-312)CTC>TTC		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						169.0	153.0	158.0					5																	153026577		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding	g.chr5:153026577C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.310C>T	5.37:g.153026577C>T	ENSP00000285900:p.Leu104Phe					GRIA1_uc003luy.3_Missense_Mutation_p.L104F|GRIA1_uc003luz.3_Missense_Mutation_p.L9F|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Intron|GRIA1_uc011dcx.1_Missense_Mutation_p.L35F|GRIA1_uc011dcy.1_Missense_Mutation_p.L114F|GRIA1_uc011dcz.1_Missense_Mutation_p.L114F|GRIA1_uc010jia.1_Missense_Mutation_p.L84F	p.L104F	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	675	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	104			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.310C>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.716324	0.68844	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.55	4.68	0.58851	Extracellular ligand-binding receptor (1);	0.062793	0.64402	N	0.000004	D	0.85478	0.5706	L	0.42487	1.325	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.911	D;D;D;D;P	0.97110	1.0;1.0;1.0;1.0;0.581	D	0.86697	0.1927	10	0.87932	D	0	.	13.4055	0.60911	0.0:0.9242:0.0:0.0757	.	114;114;114;104;104	E7ESV8;B7Z9G9;B7Z2W8;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	F	104;104;58;104;35;35;114;114	ENSP00000285900:L104F;ENSP00000339343:L104F;ENSP00000427864:L35F;ENSP00000442108:L35F;ENSP00000428994:L114F;ENSP00000415569:L114F	ENSP00000285900:L104F	L	+	1	0	GRIA1	153006770	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.581000	0.82535	1.339000	0.45563	0.655000	0.94253	CTC		0.498	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			29	82	0	0	0	0	29	82				
FAM114A2	10827	broad.mit.edu	37	5	153390822	153390822	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:153390822G>A	ENST00000351797.4	-	9	1048	c.972C>T	c.(970-972)tcC>tcT	p.S324S	FAM114A2_ENST00000522858.1_Silent_p.S324S|FAM114A2_ENST00000520667.1_Silent_p.S324S|FAM114A2_ENST00000520313.1_Silent_p.S254S	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	324							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TCTCTGGTTTGGAGGAAACGT	0.368																																						uc003lvb.2		NA																	0					0						c.(970-972)TCC>TCT		hypothetical protein LOC10827							93.0	93.0	93.0					5																	153390822		2203	4300	6503	SO:0001819	synonymous_variant	10827						purine nucleotide binding	g.chr5:153390822G>A	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.972C>T	5.37:g.153390822G>A						FAM114A2_uc003lvc.2_Silent_p.S324S|FAM114A2_uc003lvd.2_Silent_p.S324S|FAM114A2_uc003lve.2_Silent_p.S140S|FAM114A2_uc011dda.1_Silent_p.S254S	p.S324S	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN			9	1560	-			324					B2R8D8|Q9H7E0	Silent	SNP	ENST00000351797.4	37	c.972C>T	CCDS4323.1																																																																																				0.368	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		11	53	0	0	0	0	11	53				
KIF4B	285643	broad.mit.edu	37	5	154397020	154397020	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:154397020G>C	ENST00000435029.4	+	1	3761	c.3601G>C	c.(3601-3603)Gaa>Caa	p.E1201Q		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1201	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGAGCAACAGAATACCAACA	0.507																																						uc010jih.1		NA																	0				ovary(1)	1						c.(3601-3603)GAA>CAA		kinesin family member 4B							51.0	55.0	53.0					5																	154397020		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154397020G>C	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3601G>C	5.37:g.154397020G>C	ENSP00000387875:p.Glu1201Gln						p.E1201Q	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3761	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1201			Interaction with PRC1 (By similarity).|Globular (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.3601G>C	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313902	0.40996	.	.	ENSG00000226650	ENST00000435029	T	0.50001	0.76	1.77	1.77	0.24775	.	.	.	.	.	T	0.37265	0.0997	L	0.53249	1.67	0.37152	D	0.90219	P	0.41041	0.736	B	0.36289	0.221	T	0.41787	-0.9489	9	0.29301	T	0.29	.	9.5105	0.39074	0.0:0.0:1.0:0.0	.	1201	Q2VIQ3	KIF4B_HUMAN	Q	1201	ENSP00000387875:E1201Q	ENSP00000387875:E1201Q	E	+	1	0	KIF4B	154377213	0.996000	0.38824	0.148000	0.22405	0.313000	0.28021	4.165000	0.58196	1.290000	0.44636	0.563000	0.77884	GAA		0.507	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			7	25	0	0	0	0	7	25				
GABRA1	2554	broad.mit.edu	37	5	161322869	161322869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:161322869G>A	ENST00000428797.2	+	10	1409	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	GABRA1_ENST00000437025.2_Missense_Mutation_p.E352K|GABRA1_ENST00000420560.1_Missense_Mutation_p.E352K|GABRA1_ENST00000023897.6_Missense_Mutation_p.E352K|GABRA1_ENST00000393943.4_Missense_Mutation_p.E352K|GABRA1_ENST00000444819.1_Missense_Mutation_p.E352K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	352					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGTGGTTCCAGAAAAGGTAAA	0.393																																						uc010jiw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1054-1056)GAA>AAA		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						176.0	161.0	166.0					5																	161322869		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161322869G>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1054G>A	5.37:g.161322869G>A	ENSP00000393097:p.Glu352Lys					GABRA1_uc010jix.2_Missense_Mutation_p.E352K|GABRA1_uc010jiy.2_Missense_Mutation_p.E352K|GABRA1_uc003lyx.3_Missense_Mutation_p.E352K|GABRA1_uc010jiz.2_Missense_Mutation_p.E352K|GABRA1_uc010jja.2_Missense_Mutation_p.E352K|GABRA1_uc010jjb.2_Missense_Mutation_p.E352K	p.E352K	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	10	1522	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	352			Cytoplasmic (Probable).		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1054G>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796393	0.50208	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.27	5.27	0.74061	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.124973	0.53938	D	0.000044	T	0.73055	0.3538	L	0.29908	0.895	0.80722	D	1	P	0.39424	0.673	B	0.37550	0.253	T	0.72443	-0.4292	10	0.02654	T	1	.	18.9268	0.92548	0.0:0.0:1.0:0.0	.	352	P14867	GBRA1_HUMAN	K	352	ENSP00000023897:E352K;ENSP00000393097:E352K;ENSP00000377517:E352K;ENSP00000415441:E352K;ENSP00000408041:E352K;ENSP00000414232:E352K	ENSP00000023897:E352K	E	+	1	0	GABRA1	161255447	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.357000	0.97099	2.461000	0.83175	0.650000	0.86243	GAA		0.393	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		26	62	0	0	0	0	26	62				
GABRA1	2554	broad.mit.edu	37	5	161324342	161324342	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:161324342C>A	ENST00000428797.2	+	11	1640	c.1285C>A	c.(1285-1287)Ctg>Atg	p.L429M	GABRA1_ENST00000437025.2_Missense_Mutation_p.L429M|GABRA1_ENST00000420560.1_Missense_Mutation_p.L429M|GABRA1_ENST00000023897.6_Missense_Mutation_p.L429M|GABRA1_ENST00000393943.4_Missense_Mutation_p.L429M|GABRA1_ENST00000444819.1_Missense_Mutation_p.L429M	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	429					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGCCTTCCCGCTGCTATTTGG	0.428																																						uc010jiw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1285-1287)CTG>ATG		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						141.0	143.0	142.0					5																	161324342		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324342C>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1285C>A	5.37:g.161324342C>A	ENSP00000393097:p.Leu429Met					GABRA1_uc010jix.2_Missense_Mutation_p.L429M|GABRA1_uc010jiy.2_Missense_Mutation_p.L429M|GABRA1_uc003lyx.3_Missense_Mutation_p.L429M|GABRA1_uc010jiz.2_Missense_Mutation_p.L429M|GABRA1_uc010jja.2_Missense_Mutation_p.L429M|GABRA1_uc010jjb.2_Missense_Mutation_p.L429M	p.L429M	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1753	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	429			Helical; (Probable).		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1285C>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964095	0.53507	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	5.32	2.02	0.26589	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000001	D	0.86944	0.6055	L	0.41356	1.27	0.40375	D	0.979383	D	0.64830	0.994	D	0.65773	0.938	D	0.83528	0.0089	10	0.37606	T	0.19	.	6.4975	0.22150	0.0:0.5902:0.1489:0.2609	.	429	P14867	GBRA1_HUMAN	M	429	ENSP00000023897:L429M;ENSP00000393097:L429M;ENSP00000377517:L429M;ENSP00000415441:L429M;ENSP00000408041:L429M;ENSP00000414232:L429M	ENSP00000023897:L429M	L	+	1	2	GABRA1	161256920	0.000000	0.05858	0.988000	0.46212	0.996000	0.88848	-0.475000	0.06599	0.723000	0.32274	0.563000	0.77884	CTG		0.428	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		24	101	1	0	7.88e-14	8.55e-14	24	101				
DRD1	1812	broad.mit.edu	37	5	174869513	174869513	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:174869513G>A	ENST00000393752.2	-	2	1582	c.590C>T	c.(589-591)tCa>tTa	p.S197L		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	197					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TACAGAGGATGAGATGGCATA	0.502																																						uc003mcz.2		NA																	0				ovary(2)|skin(1)	3						c.(589-591)TCA>TTA		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						171.0	161.0	165.0					5																	174869513		2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869513G>A	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.590C>T	5.37:g.174869513G>A	ENSP00000377353:p.Ser197Leu						p.S197L	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1535	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	197			Helical; Name=5; (Potential).		B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.590C>T	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541013	0.85917	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.34667	1.35	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.50017	0.1591	L	0.41961	1.31	0.80722	D	1	D	0.59767	0.986	D	0.67103	0.949	T	0.18493	-1.0335	10	0.12766	T	0.61	.	18.8349	0.92157	0.0:0.0:1.0:0.0	.	197	P21728	DRD1_HUMAN	L	197	ENSP00000377353:S197L	ENSP00000327652:S197L	S	-	2	0	DRD1	174802119	1.000000	0.71417	0.982000	0.44146	0.944000	0.59088	9.675000	0.98638	2.768000	0.95171	0.650000	0.86243	TCA		0.502	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		13	84	0	0	0	0	13	84				
GPRIN1	114787	broad.mit.edu	37	5	176026823	176026823	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:176026823C>T	ENST00000303991.4	-	2	190	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	5					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGGGTCTTCAGCAGTGTCC	0.612																																						uc003meo.1		NA																	0				ovary(2)	2						c.(13-15)GAA>AAA		G protein-regulated inducer of neurite outgrowth							20.0	19.0	19.0					5																	176026823		2183	4257	6440	SO:0001583	missense	114787					growth cone|plasma membrane		g.chr5:176026823C>T	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.13G>A	5.37:g.176026823C>T	ENSP00000305839:p.Glu5Lys						p.E5K	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	188	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	5					C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	c.13G>A	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350737	0.61183	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.10192	2.9	4.61	2.12	0.27331	.	.	.	.	.	T	0.09730	0.0239	L	0.50919	1.6	0.26287	N	0.978181	B	0.20052	0.041	B	0.19666	0.026	T	0.29366	-1.0014	9	0.30078	T	0.28	-1.5481	4.9464	0.13991	0.0:0.6277:0.0:0.3723	.	5	Q7Z2K8	GRIN1_HUMAN	K	5	ENSP00000305839:E5K	ENSP00000305839:E5K	E	-	1	0	GPRIN1	175959429	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	0.913000	0.28611	0.828000	0.34709	0.563000	0.77884	GAA		0.612	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		3	16	0	0	0	0	3	16				
NSD1	64324	broad.mit.edu	37	5	176709547	176709547	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:176709547G>C	ENST00000439151.2	+	19	6019	c.5974G>C	c.(5974-5976)Gat>Cat	p.D1992H	NSD1_ENST00000347982.4_Missense_Mutation_p.D1723H|NSD1_ENST00000361032.4_Missense_Mutation_p.D1889H|NSD1_ENST00000354179.4_Missense_Mutation_p.D1723H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1992	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TCAAGAACATGATATCACTAA	0.378			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(5974-5976)GAT>CAT		nuclear receptor binding SET domain protein 1							189.0	186.0	187.0					5																	176709547		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176709547G>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5974G>C	5.37:g.176709547G>C	ENSP00000395929:p.Asp1992His	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.D1723H|NSD1_uc011dfx.1_Missense_Mutation_p.D1640H	p.D1992H	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	19	6112	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1992			SET.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5974G>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142884	0.77888	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.5	5.5	0.81552	SET domain (3);	0.240181	0.29059	N	0.013263	D	0.82472	0.5044	N	0.13235	0.315	0.58432	D	0.999999	D;B	0.89917	1.0;0.312	D;B	0.70487	0.969;0.23	D	0.84833	0.0803	10	0.56958	D	0.05	.	19.3767	0.94512	0.0:0.0:1.0:0.0	.	1723;1992	Q96L73-2;Q96L73	.;NSD1_HUMAN	H	1723;1992;1723;1889	ENSP00000346111:D1723H;ENSP00000395929:D1992H;ENSP00000343209:D1723H;ENSP00000354310:D1889H	ENSP00000343209:D1723H	D	+	1	0	NSD1	176642153	1.000000	0.71417	0.994000	0.49952	0.833000	0.47200	6.824000	0.75288	2.735000	0.93741	0.655000	0.94253	GAT		0.378	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		29	81	0	0	0	0	29	81				
NSD1	64324	broad.mit.edu	37	5	176709577	176709577	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr5:176709577G>C	ENST00000439151.2	+	19	6049	c.6004G>C	c.(6004-6006)Gac>Cac	p.D2002H	NSD1_ENST00000347982.4_Missense_Mutation_p.D1733H|NSD1_ENST00000361032.4_Missense_Mutation_p.D1899H|NSD1_ENST00000354179.4_Missense_Mutation_p.D1733H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2002	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GCTCACCCTAGACAAAGTAAG	0.388			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(6004-6006)GAC>CAC		nuclear receptor binding SET domain protein 1							145.0	146.0	145.0					5																	176709577		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176709577G>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6004G>C	5.37:g.176709577G>C	ENSP00000395929:p.Asp2002His	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.D1733H|NSD1_uc011dfx.1_Missense_Mutation_p.D1650H	p.D2002H	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	19	6142	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2002			SET.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.6004G>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944821	0.92593	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.5	5.5	0.81552	SET domain (3);	0.100799	0.43579	D	0.000553	D	0.95433	0.8517	M	0.94101	3.495	0.80722	D	1	D;P	0.55385	0.971;0.802	P;P	0.52109	0.679;0.69	D	0.95802	0.8834	10	0.54805	T	0.06	.	19.3767	0.94512	0.0:0.0:1.0:0.0	.	1733;2002	Q96L73-2;Q96L73	.;NSD1_HUMAN	H	1733;2002;1733;1899	ENSP00000346111:D1733H;ENSP00000395929:D2002H;ENSP00000343209:D1733H;ENSP00000354310:D1899H	ENSP00000343209:D1733H	D	+	1	0	NSD1	176642183	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	9.869000	0.99810	2.735000	0.93741	0.655000	0.94253	GAC		0.388	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		23	66	0	0	0	0	23	66				
SERPINB6	5269	broad.mit.edu	37	6	2954925	2954925	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:2954925G>C	ENST00000380520.1	-	3	2325	c.331C>G	c.(331-333)Caa>Gaa	p.Q111E	SERPINB6_ENST00000380524.1_Missense_Mutation_p.Q111E|SERPINB6_ENST00000380546.3_Missense_Mutation_p.Q111E|SERPINB6_ENST00000380529.1_Missense_Mutation_p.Q111E|SERPINB6_ENST00000335686.5_Missense_Mutation_p.Q111E|SERPINB6_ENST00000380539.1_Missense_Mutation_p.Q111E			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	111					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	TAGAATTTTTGGCAGGAATCT	0.443																																						uc003muk.2		NA																	0					0						c.(331-333)CAA>GAA		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)						111.0	106.0	108.0					6																	2954925		2203	4300	6503	SO:0001583	missense	5269				regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2954925G>C	Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.331C>G	6.37:g.2954925G>C	ENSP00000369891:p.Gln111Glu					SERPINB6_uc003mui.2_5'UTR|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.Q111E|SERPINB6_uc003mum.2_Missense_Mutation_p.Q111E|SERPINB6_uc003mun.2_Missense_Mutation_p.Q111E|SERPINB6_uc003muo.2_Missense_Mutation_p.Q111E	p.Q111E	NM_004568	NP_004559	P35237	SPB6_HUMAN			3	2326	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	111					B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	ENST00000380520.1	37	c.331C>G	CCDS4479.1	.	.	.	.	.	.	.	.	.	.	G	7.285	0.609818	0.14066	.	.	ENSG00000124570	ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.22	0.962	0.19643	Serpin domain (3);	1.600230	0.03098	N	0.160713	T	0.46190	0.1380	N	0.11154	0.105	0.09310	N	1	B	0.22604	0.072	B	0.28385	0.089	T	0.41484	-0.9506	10	0.29301	T	0.29	.	2.7581	0.05298	0.2389:0.1212:0.5159:0.124	.	111	P35237	SPB6_HUMAN	E	111	ENSP00000369896:Q111E;ENSP00000369891:Q111E;ENSP00000338358:Q111E;ENSP00000369901:Q111E;ENSP00000369912:Q111E;ENSP00000369919:Q111E	ENSP00000338358:Q111E	Q	-	1	0	SERPINB6	2899924	0.049000	0.20398	0.113000	0.21522	0.411000	0.31082	0.567000	0.23608	0.047000	0.15862	0.650000	0.86243	CAA		0.443	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1			12	42	0	0	0	0	12	42				
BMP6	654	broad.mit.edu	37	6	7861772	7861772	+	Missense_Mutation	SNP	C	C	G	rs147293908	byFrequency	TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:7861772C>G	ENST00000283147.6	+	3	1105	c.946C>G	c.(946-948)Ctg>Gtg	p.L316V		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	316					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CACTAGCAATCTGTGGGTTGT	0.502																																						uc003mxu.3		NA																	0				large_intestine(2)|ovary(1)	3						c.(946-948)CTG>GTG		bone morphogenetic protein 6 preproprotein							136.0	132.0	134.0					6																	7861772		2203	4300	6503	SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7861772C>G	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.946C>G	6.37:g.7861772C>G	ENSP00000283147:p.Leu316Val						p.L316V	NM_001718	NP_001709	P22004	BMP6_HUMAN			3	1124	+	Ovarian(93;0.0721)		316					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.946C>G	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577032	0.45902	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.64618	-0.11	5.01	5.01	0.66863	Transforming growth factor-beta, N-terminal (1);	0.174095	0.41605	D	0.000859	T	0.43809	0.1264	L	0.44542	1.39	0.46167	D	0.998907	P	0.41848	0.763	P	0.46208	0.507	T	0.32161	-0.9917	10	0.16896	T	0.51	.	10.1382	0.42719	0.2082:0.6637:0.128:0.0	.	316	P22004	BMP6_HUMAN	V	238;316;279	ENSP00000283147:L316V	ENSP00000283147:L316V	L	+	1	2	BMP6	7806771	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.148000	0.50647	2.595000	0.87683	0.655000	0.94253	CTG		0.502	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		30	88	0	0	0	0	30	88				
TFAP2A	7020	broad.mit.edu	37	6	10404933	10404933	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:10404933G>C	ENST00000482890.1	-	5	924	c.572C>G	c.(571-573)tCc>tGc	p.S191C	TFAP2A_ENST00000379604.2_Missense_Mutation_p.S191C|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379613.3_Missense_Mutation_p.S193C|TFAP2A_ENST00000379608.3_Missense_Mutation_p.S185C|TFAP2A_ENST00000319516.4_Missense_Mutation_p.S187C			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	191					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S191C(1)|p.S185C(1)|p.S187C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGGGATGGCGGAGACGGCATT	0.627																																						uc003myr.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(571-573)TCC>TGC		transcription factor AP-2 alpha isoform a							87.0	90.0	89.0					6																	10404933		2203	4300	6503	SO:0001583	missense	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10404933G>C	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.572C>G	6.37:g.10404933G>C	ENSP00000418541:p.Ser191Cys					TFAP2A_uc003myq.2_Missense_Mutation_p.S185C|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Missense_Mutation_p.S191C|TFAP2A_uc003myt.2_Missense_Mutation_p.S187C|TFAP2A_uc003myu.1_Missense_Mutation_p.S191C	p.S191C	NM_003220	NP_003211	P05549	AP2A_HUMAN			4	824	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	191					Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	c.572C>G	CCDS4510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.182369|5.182369	0.94885|0.94885	.|.	.|.	ENSG00000137203|ENSG00000137203	ENST00000475264|ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073;ENST00000498450	.|D;D;D;D;D;D;D	.|0.97352	.|-4.34;-4.34;-4.35;-4.35;-4.34;-4.28;-4.13	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98068|0.98068	0.9363|0.9363	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D;P;D;P	.|0.76494	.|0.978;0.999;0.94;0.976;0.939	.|P;D;P;P;P	.|0.80764	.|0.753;0.994;0.635;0.72;0.615	D|D	0.97979|0.97979	1.0348|1.0348	5|10	.|0.48119	.|T	.|0.1	-12.8134|-12.8134	18.9331|18.9331	0.92574|0.92574	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|191;193;187;191;185	.|C1K3N0;Q96SH0;Q5TAV5;P05549;Q8N1C6	.|.;.;.;AP2A_HUMAN;.	A|C	96|193;191;187;185;191;191;48	.|ENSP00000368933:S193C;ENSP00000368924:S191C;ENSP00000316516:S187C;ENSP00000368928:S185C;ENSP00000418541:S191C;ENSP00000417495:S191C;ENSP00000419961:S48C	.|ENSP00000316516:S187C	P|S	-|-	1|2	0|0	TFAP2A|TFAP2A	10512919|10512919	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	6.084000|6.084000	0.71335|0.71335	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	CCG|TCC		0.627	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		11	52	0	0	0	0	11	52				
NRSN1	140767	broad.mit.edu	37	6	24145891	24145891	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:24145891A>G	ENST00000378491.4	+	4	606	c.305A>G	c.(304-306)gAc>gGc	p.D102G		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GTGGTGGTCGACACACATGCT	0.527																																						uc010jpq.1		NA																	0					0						c.(304-306)GAC>GGC		neurensin 1							105.0	93.0	97.0					6																	24145891		2203	4300	6503	SO:0001583	missense	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145891A>G	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.305A>G	6.37:g.24145891A>G	ENSP00000367752:p.Asp102Gly						p.D102G	NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN			4	542	+			102						Missense_Mutation	SNP	ENST00000378491.4	37	c.305A>G	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325486	0.60743	.	.	ENSG00000152954	ENST00000378491;ENST00000378477	T	0.36340	1.26	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	M	0.79475	2.455	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	T	0.60265	-0.7297	10	0.87932	D	0	-23.9389	15.374	0.74590	1.0:0.0:0.0:0.0	.	102	Q8IZ57	NRSN1_HUMAN	G	102	ENSP00000367752:D102G	ENSP00000367738:D102G	D	+	2	0	NRSN1	24253870	1.000000	0.71417	0.966000	0.40874	0.070000	0.16714	9.307000	0.96226	2.042000	0.60477	0.455000	0.32223	GAC		0.527	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		34	31	0	0	0	0	34	31				
SLC17A3	10786	broad.mit.edu	37	6	25862525	25862525	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:25862525G>C	ENST00000360657.3	-	3	524	c.239C>G	c.(238-240)tCt>tGt	p.S80C	SLC17A3_ENST00000361703.6_Missense_Mutation_p.S80C|SLC17A3_ENST00000397060.4_Missense_Mutation_p.S80C			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	80					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CAGCACCTCAGAGGAATCATT	0.428																																						uc003nfi.3		NA																	0					0						c.(238-240)TCT>TGT		solute carrier family 17 (sodium phosphate),							167.0	132.0	144.0					6																	25862525		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25862525G>C	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.239C>G	6.37:g.25862525G>C	ENSP00000353873:p.Ser80Cys					SLC17A3_uc003nfk.3_Missense_Mutation_p.S80C|SLC17A3_uc011djz.1_Missense_Mutation_p.S80C|SLC17A3_uc011dka.1_Missense_Mutation_p.S80C	p.S80C	NM_006632	NP_006623	O00476	NPT4_HUMAN			3	349	-			80					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.239C>G	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	G	9.381	1.072980	0.20147	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.66099	-0.19;-0.11;-0.11	3.81	2.94	0.34122	.	971.361000	0.00166	N	0.000000	T	0.44519	0.1297	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.52170	0.553;0.951;0.84;0.553	B;P;P;B	0.58520	0.135;0.84;0.84;0.135	T	0.49370	-0.8947	10	0.38643	T	0.18	.	7.2241	0.26005	0.1201:0.0:0.8799:0.0	.	80;61;80;80	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	C	80	ENSP00000380250:S80C;ENSP00000353873:S80C;ENSP00000355307:S80C	ENSP00000353873:S80C	S	-	2	0	SLC17A3	25970504	0.001000	0.12720	0.028000	0.17463	0.004000	0.04260	0.932000	0.28884	1.166000	0.42689	0.557000	0.71058	TCT		0.428	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			5	64	0	0	0	0	5	64				
HIST1H1A	3024	broad.mit.edu	37	6	26017460	26017460	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:26017460C>T	ENST00000244573.3	-	1	580	c.501G>A	c.(499-501)aaG>aaA	p.K167K		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	167					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						TTTTTGGATTCTTGGAGGATT	0.473																																						uc003nfo.2		NA																	0				ovary(2)	2						c.(499-501)AAG>AAA		histone cluster 1, H1a							170.0	182.0	178.0					6																	26017460		2203	4300	6503	SO:0001819	synonymous_variant	3024				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr6:26017460C>T	AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"""Histones / Replication-dependent"""	4715	protein-coding gene	gene with protein product		142709	"""H1 histone family, member 1"", ""histone 1, H1a"""	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.501G>A	6.37:g.26017460C>T							p.K167K	NM_005325	NP_005316	Q02539	H11_HUMAN			1	581	-			167					Q3MJ34	Silent	SNP	ENST00000244573.3	37	c.501G>A	CCDS4569.1																																																																																				0.473	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		41	156	0	0	0	0	41	156				
HIST1H3E	8353	broad.mit.edu	37	6	26225488	26225488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:26225488G>A	ENST00000360408.1	+	1	106	c.106G>A	c.(106-108)Gtg>Atg	p.V36M		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	36					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(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CACGGGCGGCGTGAAGAAGCC	0.622																																						uc003nhb.2		NA																	0					0						c.(106-108)GTG>ATG		histone cluster 1, H3f							48.0	50.0	50.0					6																	26225488		2203	4300	6503	SO:0001583	missense	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225488G>A	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.106G>A	6.37:g.26225488G>A	ENSP00000353581:p.Val36Met					HIST1H3E_uc003nhc.3_Missense_Mutation_p.V36M	p.V36M	NM_021018	NP_066298	P68431	H31_HUMAN			2	466	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	36					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000360408.1	37	c.106G>A	CCDS4596.1	.	.	.	.	.	.	.	.	.	.	.	7.124	0.578592	0.13686	.	.	ENSG00000196966	ENST00000360408	T	0.46063	0.88	4.54	3.65	0.41850	.	.	.	.	.	T	0.34658	0.0905	.	.	.	0.27923	N	0.938175	.	.	.	.	.	.	T	0.19976	-1.0289	6	0.72032	D	0.01	.	13.1827	0.59663	0.0:0.0:0.8392:0.1608	.	.	.	.	M	36	ENSP00000353581:V36M	ENSP00000353581:V36M	V	+	1	0	HIST1H3E	26333467	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	7.563000	0.82314	1.243000	0.43853	0.491000	0.48974	GTG		0.622	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		31	24	0	0	0	0	31	24				
HIST1H2BK	85236	broad.mit.edu	37	6	27114494	27114494	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:27114494C>G	ENST00000356950.1	-	1	83	c.84G>C	c.(82-84)aaG>aaC	p.K28N	HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.K28N|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	28					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GCTTGCGCTTCTTGCCGTCCT	0.597																																						uc003nix.1		NA																	0					0						c.(82-84)AAG>AAC		histone cluster 1, H2bk							182.0	147.0	159.0					6																	27114494		2203	4300	6503	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114494C>G	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.84G>C	6.37:g.27114494C>G	ENSP00000349430:p.Lys28Asn					HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	p.K28N	NM_080593	NP_542160	O60814	H2B1K_HUMAN			1	126	-			28					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.84G>C	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517772	0.64634	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.25085	1.82;1.82	3.82	3.82	0.43975	Histone-fold (2);	.	.	.	.	T	0.18299	0.0439	M	0.85542	2.76	0.45634	D	0.998564	P	0.48089	0.905	B	0.31290	0.127	T	0.39035	-0.9633	9	0.87932	D	0	.	14.0417	0.64678	0.0:1.0:0.0:0.0	.	28	O60814	H2B1K_HUMAN	N	28	ENSP00000380100:K28N;ENSP00000349430:K28N	ENSP00000349430:K28N	K	-	3	2	HIST1H2BK	27222473	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	3.898000	0.56281	2.080000	0.62538	0.650000	0.86243	AAG		0.597	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		20	142	0	0	0	0	20	142				
HLA-A	3105	broad.mit.edu	37	6	29912344	29912344	+	Silent	SNP	G	G	A	rs11539965		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:29912344G>A	ENST00000396634.1	+	7	1304	c.963G>A	c.(961-963)gtG>gtA	p.V321V	HLA-A_ENST00000376809.5_Silent_p.V321V|HLA-A_ENST00000376806.5_Silent_p.V321V|HLA-A_ENST00000376802.2_Intron			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	321					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						TTGGAGCTGTGATCACTGGAG	0.592									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.(961-963)GTG>GTA		major histocompatibility complex, class I, A							112.0	106.0	108.0					6																	29912344		1511	2709	4220	SO:0001819	synonymous_variant	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29912344G>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.963G>A	6.37:g.29912344G>A		Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Silent_p.V200V|HLA-A_uc003nok.2_Silent_p.V200V|HLA-A_uc003non.2_Silent_p.V321V|HLA-A_uc003noo.2_Silent_p.V321V|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Silent_p.V200V|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Silent_p.V200V|HLA-A_uc011dmd.1_Silent_p.V200V	p.V321V	NM_002116	NP_002107	P30443	1A01_HUMAN			5	963	+			321			Helical; (Potential).		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.963G>A	CCDS34373.1																																																																																				0.592	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		29	47	0	0	0	0	29	47				
NFKBIL1	4795	broad.mit.edu	37	6	31525604	31525604	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:31525604G>A	ENST00000376148.4	+	3	648	c.534G>A	c.(532-534)caG>caA	p.Q178Q	NFKBIL1_ENST00000376145.4_Intron	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	178					cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of transcription factor (GO:0042994)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)	cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						ACGAGTGGCAGGAAGTCATGG	0.567																																						uc003nub.2		NA																	0					0						c.(532-534)CAG>CAA		nuclear factor of kappa light polypeptide gene							91.0	67.0	75.0					6																	31525604		2203	4300	6503	SO:0001819	synonymous_variant	4795				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:31525604G>A	X77909	CCDS4700.1, CCDS47399.1, CCDS47400.1	6p21.3	2010-02-17			ENSG00000204498	ENSG00000204498			7800	protein-coding gene	gene with protein product		601022		NFKBIL		8081366	Standard	NM_005007		Approved	IKBL	uc003nub.3	Q9UBC1	OTTHUMG00000031038	ENST00000376148.4:c.534G>A	6.37:g.31525604G>A						NFKBIL1_uc011dnr.1_Intron|NFKBIL1_uc011dns.1_Silent_p.Q155Q|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Intron	p.Q178Q	NM_005007	NP_004998	Q9UBC1	IKBL1_HUMAN			3	653	+			178					A6NL91|B4DUW1|Q14625|Q5HYU4|Q5RJ72|Q5ST96|Q5STV4|Q5STV5|Q9UBX4	Silent	SNP	ENST00000376148.4	37	c.534G>A	CCDS4700.1																																																																																				0.567	NFKBIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076036.3	NM_005007		4	30	0	0	0	0	4	30				
LTB	4050	broad.mit.edu	37	6	31548552	31548552	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:31548552G>A	ENST00000429299.2	-	4	676	c.669C>T	c.(667-669)atC>atT	p.I223I	LTB_ENST00000446745.2_3'UTR|LTB_ENST00000483972.1_5'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	223					cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						CGGGGTGACTGATGTTGACGT	0.622																																						uc003nuk.2		NA																	0					0						c.(667-669)ATC>ATT		lymphotoxin-beta isoform a	Infliximab(DB00065)|Simvastatin(DB00641)						98.0	62.0	75.0					6																	31548552		1510	2709	4219	SO:0001819	synonymous_variant	4050				cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31548552G>A	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"""Tumor necrosis factor (ligand) superfamily"""	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.669C>T	6.37:g.31548552G>A						LTB_uc003nul.2_3'UTR	p.I223I	NM_002341	NP_002332	Q06643	TNFC_HUMAN			4	677	-			223			Extracellular (Potential).		P78370|Q52LU8|Q99761	Silent	SNP	ENST00000429299.2	37	c.669C>T	CCDS4703.1																																																																																				0.622	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3			6	22	0	0	0	0	6	22				
BAG6	7917	broad.mit.edu	37	6	31606973	31606973	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:31606973C>T	ENST00000375964.6	-	25	3647	c.3334G>A	c.(3334-3336)Gaa>Aaa	p.E1112K	BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000404765.2_Missense_Mutation_p.E1142K|BAG6_ENST00000375976.4_Missense_Mutation_p.E1106K|BAG6_ENST00000362049.6_Missense_Mutation_p.E1057K|BAG6_ENST00000211379.5_Missense_Mutation_p.E1106K|BAG6_ENST00000439687.2_Missense_Mutation_p.E883K	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1112					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TTGGGGTCTTCCTGCAGTCGT	0.537																																						uc003nvg.3		NA																	0					0						c.(3334-3336)GAA>AAA		HLA-B associated transcript-3 isoform a							53.0	50.0	51.0					6																	31606973		2203	4300	6503	SO:0001583	missense	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31606973C>T	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.3334G>A	6.37:g.31606973C>T	ENSP00000365131:p.Glu1112Lys					BAT3_uc003nvf.3_Missense_Mutation_p.E1106K|BAT3_uc003nvh.3_Missense_Mutation_p.E1106K|BAT3_uc003nvi.3_Missense_Mutation_p.E1106K|BAT3_uc011dnw.1_Missense_Mutation_p.E1057K|BAT3_uc011dnx.1_Missense_Mutation_p.E883K	p.E1112K	NM_004639	NP_004630	P46379	BAG6_HUMAN			25	3648	-			1112					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	c.3334G>A	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037420	0.75617	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049	T;T;T;T;T;T	0.46451	1.58;1.59;1.58;1.61;0.87;1.53	5.38	5.38	0.77491	.	0.170619	0.51477	D	0.000089	T	0.19846	0.0477	N	0.08118	0	0.48762	D	0.999705	D;P;P;B	0.54207	0.965;0.628;0.488;0.43	P;B;B;B	0.47044	0.535;0.15;0.142;0.196	T	0.02877	-1.1099	10	0.25751	T	0.34	.	18.0715	0.89408	0.0:1.0:0.0:0.0	.	883;1057;1112;1106	E7EMZ4;F8VXY4;P46379;P46379-2	.;.;BAG6_HUMAN;.	K	1106;1112;1106;1142;883;1057	ENSP00000365143:E1106K;ENSP00000365131:E1112K;ENSP00000211379:E1106K;ENSP00000384494:E1142K;ENSP00000402856:E883K;ENSP00000354875:E1057K	ENSP00000211379:E1106K	E	-	1	0	BAG6	31714952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.169000	0.71913	2.813000	0.96785	0.655000	0.94253	GAA		0.537	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		3	19	0	0	0	0	3	19				
CYP21A1P	1590	broad.mit.edu	37	6	31974817	31974817	+	Intron	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:31974817C>T	ENST00000594256.1	-	1	38				CYP21A1P_ENST00000342991.6_RNA																							TCTCCGGAGGCTGAAGCAGGC	0.627																																						uc010jtp.2		NA																	0					0						c.(679-681)CTG>TTG		SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA;							178.0	212.0	202.0					6																	31974817		682	1542	2224	SO:0001627	intron_variant	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:31974817C>T																												ENST00000594256.1:c.38+26G>A	6.37:g.31974817C>T						CYP21A2_uc011dpb.1_Silent_p.L197L	p.L227L			P08686	CP21A_HUMAN			7	797	+			226						Silent	SNP	ENST00000594256.1	37	c.679C>T																																																																																					0.627	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				4	11	0	0	0	0	4	11				
HLA-DOB	3112	broad.mit.edu	37	6	32782246	32782246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:32782246C>T	ENST00000438763.2	-	3	590	c.494G>A	c.(493-495)aGa>aAa	p.R165K	TAP2_ENST00000452392.2_Missense_Mutation_p.R772K	NM_002120.3	NP_002111.1	P13765	DOB_HUMAN	major histocompatibility complex, class II, DO beta	165	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						GACCCCAGCTCTCTCCTCCTG	0.522																																						uc011dqf.1		NA																	0					0						c.(2314-2316)AGA>AAA		transporter 2, ATP-binding cassette, sub-family							220.0	189.0	200.0					6																	32782246		1511	2709	4220	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32782246C>T		CCDS4754.1	6p21.3	2013-01-11			ENSG00000241106	ENSG00000241106		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4937	protein-coding gene	gene with protein product		600629					Standard	NM_002120		Approved			P13765	OTTHUMG00000031213	ENST00000438763.2:c.494G>A	6.37:g.32782246C>T	ENSP00000390020:p.Arg165Lys					HLA-DOB_uc003oca.2_Missense_Mutation_p.R165K|HLA-DOB_uc011dqg.1_Missense_Mutation_p.R165K	p.R772K	NM_018833	NP_061313	Q03519	TAP2_HUMAN			14	2437	-			Error:Variant_position_missing_in_Q03519_after_alignment					B0V0Y0|Q29746|Q29825|Q6FHC2	Missense_Mutation	SNP	ENST00000438763.2	37	c.2315G>A	CCDS4754.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856778	0.32791	.	.	ENSG00000241106;ENSG00000250264	ENST00000438763;ENST00000452392	T;T	0.02709	4.19;4.19	3.96	0.0553	0.14314	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.460204	0.22081	N	0.064888	T	0.00412	0.0013	N	0.11313	0.125	0.09310	N	1	B;B;B	0.26775	0.022;0.126;0.159	B;B;B	0.31946	0.049;0.138;0.056	T	0.41502	-0.9505	10	0.02654	T	1	.	5.8318	0.18584	0.0:0.5197:0.2991:0.1813	.	165;772;165	B7Z742;E7ENX8;P13765	.;.;DOB_HUMAN	K	165;772	ENSP00000390020:R165K;ENSP00000391806:R772K	ENSP00000390020:R165K	R	-	2	0	XXbac-BPG246D15.9;HLA-DOB	32890224	0.000000	0.05858	0.026000	0.17262	0.742000	0.42306	-0.703000	0.05063	-0.014000	0.14175	0.643000	0.83706	AGA		0.522	HLA-DOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076439.1	NM_002120		29	98	0	0	0	0	29	98				
ZBTB22	9278	broad.mit.edu	37	6	33284041	33284041	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:33284041G>A	ENST00000431845.2	-	2	804	c.653C>T	c.(652-654)tCa>tTa	p.S218L	TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.S218L|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGAGGAAGATGAGAAATCAGT	0.612																																						uc003oeb.2		NA																	0				ovary(1)	1						c.(652-654)TCA>TTA		zinc finger and BTB domain containing 22							45.0	51.0	49.0					6																	33284041		2203	4300	6503	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33284041G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.653C>T	6.37:g.33284041G>A	ENSP00000407545:p.Ser218Leu					TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.S218L	p.S218L	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	805	-			218					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.653C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.796006	0.31777	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.05786	3.39;3.39	4.41	4.41	0.53225	.	0.000000	0.29473	N	0.012059	T	0.04634	0.0126	L	0.34521	1.04	0.33440	D	0.582236	D	0.58268	0.982	P	0.52454	0.699	T	0.43909	-0.9362	10	0.32370	T	0.25	.	12.3833	0.55320	0.0:0.0:1.0:0.0	.	218	O15209	ZBT22_HUMAN	L	218	ENSP00000404403:S218L;ENSP00000407545:S218L	ENSP00000404403:S218L	S	-	2	0	ZBTB22	33392019	0.380000	0.25131	0.972000	0.41901	0.979000	0.70002	0.649000	0.24843	2.281000	0.76405	0.551000	0.68910	TCA		0.612	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			6	39	0	0	0	0	6	39				
TREM1	54210	broad.mit.edu	37	6	41250194	41250194	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:41250194G>C	ENST00000244709.4	-	2	408	c.345C>G	c.(343-345)atC>atG	p.I115M	TREM1_ENST00000334475.6_Missense_Mutation_p.I115M|TREM1_ENST00000589614.1_Missense_Mutation_p.I115M|TREM1_ENST00000591620.1_Missense_Mutation_p.I115M	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	115	Ig-like V-type.				blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GAGGCTGGTAGATCACACACT	0.537																																						uc003oqf.1		NA																	0				breast(1)	1						c.(343-345)ATC>ATG		triggering receptor expressed on myeloid cells 1	Glutathione(DB00143)						88.0	66.0	73.0					6																	41250194		2203	4300	6503	SO:0001583	missense	54210				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	g.chr6:41250194G>C	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.345C>G	6.37:g.41250194G>C	ENSP00000244709:p.Ile115Met					TREM1_uc003oqg.1_Missense_Mutation_p.I115M	p.I115M	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN			2	409	-	Ovarian(28;0.0327)|Colorectal(47;0.196)		115			Extracellular (Potential).|Ig-like V-type.		B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	ENST00000244709.4	37	c.345C>G	CCDS4854.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615881	0.28801	.	.	ENSG00000124731	ENST00000244709;ENST00000334475	T;T	0.68624	-0.34;-0.34	4.37	2.52	0.30459	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.160789	0.29699	N	0.011437	T	0.66752	0.2821	M	0.71036	2.16	0.32718	N	0.510723	D;D	0.71674	0.998;0.998	D;D	0.87578	0.99;0.998	T	0.66548	-0.5896	10	0.72032	D	0.01	-38.7787	4.7682	0.13142	0.1139:0.0:0.6726:0.2135	.	115;115	Q9NP99-2;Q9NP99	.;TREM1_HUMAN	M	115	ENSP00000244709:I115M;ENSP00000334284:I115M	ENSP00000244709:I115M	I	-	3	3	TREM1	41358172	0.999000	0.42202	0.886000	0.34754	0.215000	0.24574	1.951000	0.40333	0.557000	0.29117	-0.282000	0.10007	ATC		0.537	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643		6	27	0	0	0	0	6	27				
PRPH2	5961	broad.mit.edu	37	6	42666224	42666224	+	Missense_Mutation	SNP	G	G	A	rs370994796		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:42666224G>A	ENST00000230381.5	-	3	1089	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	284					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGTAGGTAGCGCAGCCCAATT	0.587																																						uc003osk.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(850-852)CGC>TGC		peripherin 2		G	CYS/ARG	0,4406		0,0,2203	80.0	79.0	79.0		850	5.3	1.0	6		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRPH2	NM_000322.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	284/347	42666224	1,13005	2203	4300	6503	SO:0001583	missense	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42666224G>A		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.850C>T	6.37:g.42666224G>A	ENSP00000230381:p.Arg284Cys						p.R284C	NM_000322	NP_000313	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		3	1136	-	Colorectal(47;0.196)		284			Helical; (Potential).		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	c.850C>T	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125868	0.77436	0.0	1.16E-4	ENSG00000112619	ENST00000230381	T	0.76709	-1.04	5.33	5.33	0.75918	.	0.053097	0.85682	D	0.000000	D	0.85089	0.5617	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85919	0.1445	10	0.52906	T	0.07	.	13.9193	0.63921	0.0:0.0:0.8478:0.1522	.	284	P23942	PRPH2_HUMAN	C	284	ENSP00000230381:R284C	ENSP00000230381:R284C	R	-	1	0	PRPH2	42774202	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	6.254000	0.72460	2.478000	0.83669	0.655000	0.94253	CGC		0.587	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		11	21	0	0	0	0	11	21				
TDRD6	221400	broad.mit.edu	37	6	46660213	46660213	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:46660213G>T	ENST00000316081.6	+	1	4348	c.4348G>T	c.(4348-4350)Gaa>Taa	p.E1450*	TDRD6_ENST00000544460.1_Nonsense_Mutation_p.E1450*	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1450					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AATAAGATGTGAATTTGTTAA	0.383																																						uc003oyj.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(4348-4350)GAA>TAA		tudor domain containing 6							108.0	108.0	108.0					6																	46660213		2203	4300	6503	SO:0001587	stop_gained	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660213G>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4348G>T	6.37:g.46660213G>T	ENSP00000346065:p.Glu1450*					TDRD6_uc010jze.2_Nonsense_Mutation_p.E1444*	p.E1450*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4348	+			1450					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	c.4348G>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	39	7.901855	0.98551	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	.	.	.	5.77	5.77	0.91146	.	0.390235	0.25247	N	0.032044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-19.5551	20.3473	0.98799	0.0:0.0:1.0:0.0	.	.	.	.	X	1450	.	ENSP00000346065:E1450X	E	+	1	0	TDRD6	46768172	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	4.071000	0.57556	2.884000	0.98904	0.655000	0.94253	GAA		0.383	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		33	109	1	0	2.51e-30	2.75e-30	33	109				
CRISP3	10321	broad.mit.edu	37	6	49704110	49704110	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:49704110C>T	ENST00000393666.1	-	2	189	c.183G>A	c.(181-183)ctG>ctA	p.L61L	CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000263045.4_Silent_p.L74L|CRISP3_ENST00000371159.4_Silent_p.L92L|CRISP3_ENST00000433368.2_Silent_p.L84L			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	61	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTACCATCTTCAGCATGTTTC	0.438																																						uc003ozs.2		NA																	0				skin(2)	2						c.(181-183)CTG>CTA		cysteine-rich secretory protein 3 precursor							176.0	158.0	164.0					6																	49704110		2203	4300	6503	SO:0001819	synonymous_variant	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49704110C>T	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.183G>A	6.37:g.49704110C>T							p.L61L	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		3	198	-	Lung NSC(77;0.0161)		61					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Silent	SNP	ENST00000393666.1	37	c.183G>A																																																																																					0.438	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		43	96	0	0	0	0	43	96				
PGK2	5232	broad.mit.edu	37	6	49754450	49754450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:49754450G>A	ENST00000304801.3	-	1	603	c.451C>T	c.(451-453)Cga>Tga	p.R151*		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	151					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGTGATGCTCGGAAGGCTTCT	0.502																																						uc003ozu.2		NA																	0				ovary(1)	1						c.(451-453)CGA>TGA		phosphoglycerate kinase 2							104.0	102.0	102.0					6																	49754450		2203	4300	6503	SO:0001587	stop_gained	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754450G>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.451C>T	6.37:g.49754450G>A	ENSP00000305995:p.Arg151*						p.R151*	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	558	-	Lung NSC(77;0.0402)		151					B2R6Y8|Q9H107	Nonsense_Mutation	SNP	ENST00000304801.3	37	c.451C>T	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856104	0.91355	.	.	ENSG00000170950	ENST00000304801	.	.	.	4.09	3.22	0.36961	.	0.052412	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.55	5.0498	0.14503	0.1067:0.0:0.6868:0.2065	.	.	.	.	X	151	.	ENSP00000305995:R151X	R	-	1	2	PGK2	49862409	1.000000	0.71417	0.528000	0.27938	0.734000	0.41952	2.003000	0.40844	1.306000	0.44926	0.585000	0.79938	CGA		0.502	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			20	52	0	0	0	0	20	52				
IL17A	3605	broad.mit.edu	37	6	52053869	52053869	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:52053869G>C	ENST00000340057.1	+	3	292	c.247G>C	c.(247-249)Gag>Cag	p.E83Q		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	83					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					TGAGGACCCTGAGAGATATCC	0.502																																						uc003pak.1		NA																	0					0						c.(247-249)GAG>CAG		interleukin 17A precursor							49.0	46.0	47.0					6																	52053869		2203	4300	6503	SO:0001583	missense	3605				apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	g.chr6:52053869G>C	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.247G>C	6.37:g.52053869G>C	ENSP00000344192:p.Glu83Gln						p.E83Q	NM_002190	NP_002181	Q16552	IL17_HUMAN			3	292	+	Lung NSC(77;0.116)		83					Q5T2P0	Missense_Mutation	SNP	ENST00000340057.1	37	c.247G>C	CCDS4937.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419227	0.62622	.	.	ENSG00000112115	ENST00000340057	T	0.55413	0.52	5.64	3.62	0.41486	.	0.225839	0.43110	D	0.000603	T	0.40448	0.1117	L	0.44542	1.39	0.25643	N	0.986188	D	0.58970	0.984	P	0.57679	0.825	T	0.22277	-1.0221	10	0.62326	D	0.03	-16.2086	6.465	0.21977	0.4:0.0:0.6:0.0	.	83	Q16552	IL17_HUMAN	Q	83	ENSP00000344192:E83Q	ENSP00000344192:E83Q	E	+	1	0	IL17A	52161828	0.910000	0.30920	0.982000	0.44146	0.796000	0.44982	1.429000	0.34903	1.401000	0.46761	0.609000	0.83330	GAG		0.502	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190		8	28	0	0	0	0	8	28				
GSTA1	2938	broad.mit.edu	37	6	52659022	52659022	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:52659022C>T	ENST00000334575.5	-	5	470	c.315G>A	c.(313-315)atG>atA	p.M105I	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	105	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	GAAGGAGGATCATTTCACCCA	0.378																																						uc003paz.2		NA																	0				ovary(1)	1						c.(313-315)ATG>ATA		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)						160.0	152.0	155.0					6																	52659022		2203	4300	6503	SO:0001583	missense	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52659022C>T		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.315G>A	6.37:g.52659022C>T	ENSP00000335620:p.Met105Ile						p.M105I	NM_145740	NP_665683	P08263	GSTA1_HUMAN			5	427	-	Lung NSC(77;0.118)		105			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	37	c.315G>A	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	c	7.412	0.634844	0.14322	.	.	ENSG00000243955	ENST00000334575	T	0.01998	4.51	2.58	1.65	0.23941	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.095681	0.64402	N	0.000002	T	0.00875	0.0029	L	0.53729	1.69	0.09310	N	1	B	0.16396	0.017	B	0.22152	0.038	T	0.45877	-0.9231	10	0.44086	T	0.13	.	3.7873	0.08705	0.2404:0.6154:0.0:0.1442	.	105	P08263	GSTA1_HUMAN	I	105	ENSP00000335620:M105I	ENSP00000335620:M105I	M	-	3	0	GSTA1	52766981	0.993000	0.37304	0.003000	0.11579	0.116000	0.19942	1.496000	0.35638	1.123000	0.41961	0.195000	0.17529	ATG		0.378	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			43	108	0	0	0	0	43	108				
FAM83B	222584	broad.mit.edu	37	6	54806332	54806332	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:54806332C>G	ENST00000306858.7	+	5	2679	c.2563C>G	c.(2563-2565)Caa>Gaa	p.Q855E	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	855										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TAGCCCATCTCAAGAGATAAA	0.438																																						uc003pck.2		NA																	0				ovary(6)	6						c.(2563-2565)CAA>GAA		hypothetical protein LOC222584							62.0	56.0	58.0					6																	54806332		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54806332C>G	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2563C>G	6.37:g.54806332C>G	ENSP00000304078:p.Gln855Glu						p.Q855E	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	2679	+	Lung NSC(77;0.0178)|Renal(3;0.122)		855					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2563C>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	1.570	-0.534380	0.04082	.	.	ENSG00000168143	ENST00000306858	T	0.05786	3.39	5.52	3.7	0.42460	.	1.255810	0.06614	N	0.756229	T	0.01387	0.0045	L	0.36672	1.1	0.09310	N	1	B	0.17038	0.02	B	0.14578	0.011	T	0.45804	-0.9236	10	0.02654	T	1	-0.1677	8.4674	0.32964	0.2776:0.6525:0.0:0.0698	.	855	Q5T0W9	FA83B_HUMAN	E	855	ENSP00000304078:Q855E	ENSP00000304078:Q855E	Q	+	1	0	FAM83B	54914291	0.037000	0.19845	0.015000	0.15790	0.227000	0.25037	1.036000	0.30228	0.668000	0.31126	0.650000	0.86243	CAA		0.438	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		7	34	0	0	0	0	7	34				
REV3L	5980	broad.mit.edu	37	6	111688626	111688626	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:111688626G>A	ENST00000358835.3	-	15	6819	c.6365C>T	c.(6364-6366)tCt>tTt	p.S2122F	REV3L_ENST00000368802.3_Missense_Mutation_p.S2122F|REV3L_ENST00000368805.1_Missense_Mutation_p.S2122F|REV3L_ENST00000435970.1_Missense_Mutation_p.S2044F			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2122					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AATTACTGGAGAATCAGGGGA	0.438								DNA polymerases (catalytic subunits)																														uc003puy.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(6364-6366)TCT>TTT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							138.0	137.0	137.0					6																	111688626		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111688626G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6365C>T	6.37:g.111688626G>A	ENSP00000351697:p.Ser2122Phe					REV3L_uc003pux.3_Missense_Mutation_p.S2044F|REV3L_uc003puz.3_Missense_Mutation_p.S2044F|REV3L_uc003pva.1_RNA	p.S2122F	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	14	6688	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2122					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.6365C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025906	0.75390	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.02763	4.27;4.27;4.27;4.17	5.86	5.86	0.93980	Ribonuclease H-like (1);	1.110500	0.06707	N	0.772507	T	0.07999	0.0200	L	0.32530	0.975	0.46586	D	0.999119	D	0.76494	0.999	D	0.83275	0.996	T	0.35773	-0.9775	10	0.66056	D	0.02	-7.0333	20.5632	0.99335	0.0:0.0:1.0:0.0	.	2122	O60673	DPOLZ_HUMAN	F	2122;2122;2122;2044;195	ENSP00000357792:S2122F;ENSP00000357795:S2122F;ENSP00000351697:S2122F;ENSP00000402003:S2044F	ENSP00000351697:S2122F	S	-	2	0	REV3L	111795319	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.874000	0.87199	2.937000	0.99478	0.650000	0.86243	TCT		0.438	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		19	173	0	0	0	0	19	173				
AIG1	51390	broad.mit.edu	37	6	143486275	143486275	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:143486275G>A	ENST00000275235.4	+	3	379	c.354G>A	c.(352-354)ccG>ccA	p.P118P	AIG1_ENST00000494282.2_Silent_p.P118P|AIG1_ENST00000357847.4_Silent_p.P118P|AIG1_ENST00000367598.5_Silent_p.P118P|AIG1_ENST00000344492.5_Silent_p.P66P			Q9NVV5	AIG1_HUMAN	androgen-induced 1	118						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		TGATATACCCGAAGCTGCTGG	0.358																																						uc003qjh.2		NA																	0					0						c.(352-354)CCG>CCA		androgen-induced 1							137.0	147.0	143.0					6																	143486275		2203	4300	6503	SO:0001819	synonymous_variant	51390					integral to membrane		g.chr6:143486275G>A	AF153605	CCDS5198.1, CCDS69216.1	6q24.1	2008-02-05			ENSG00000146416	ENSG00000146416			21607	protein-coding gene	gene with protein product		608514				11266118	Standard	NM_001286587		Approved	dJ95L4.1, AIG-1, FLJ10485	uc003qjh.3	Q9NVV5	OTTHUMG00000015721	ENST00000275235.4:c.354G>A	6.37:g.143486275G>A						AIG1_uc003qjf.2_Silent_p.P108P|AIG1_uc003qji.2_Silent_p.P56P|AIG1_uc011edw.1_Silent_p.P118P|AIG1_uc003qjg.2_Silent_p.P118P	p.P118P	NM_016108	NP_057192	Q9NVV5	AIG1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)	3	394	+			118					B4DPX2|C9J569|Q5T2H2|Q6N047|Q7Z378|Q8TB14|Q9Y3A9|Q9Y5B4	Silent	SNP	ENST00000275235.4	37	c.354G>A																																																																																					0.358	AIG1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000042510.1	NM_016108		22	100	0	0	0	0	22	100				
CCDC170	80129	broad.mit.edu	37	6	151939129	151939129	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:151939129G>A	ENST00000239374.7	+	11	2094	c.1995G>A	c.(1993-1995)gtG>gtA	p.V665V	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Silent_p.V672V	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	665																	GCTTGAACGTGACCAGCCTTG	0.443																																						uc003qol.2		NA																	0					0						c.(1993-1995)GTG>GTA		hypothetical protein LOC80129							133.0	136.0	135.0					6																	151939129		2019	4175	6194	SO:0001819	synonymous_variant	80129							g.chr6:151939129G>A	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1995G>A	6.37:g.151939129G>A							p.V665V	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	11	2084	+		Ovarian(120;0.126)	665					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	c.1995G>A	CCDS43515.1																																																																																				0.443	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		5	71	0	0	0	0	5	71				
WTAP	9589	broad.mit.edu	37	6	160164726	160164726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:160164726G>T	ENST00000358372.4	+	5	1932	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	WTAP_ENST00000337387.4_Nonsense_Mutation_p.E59*|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	59					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AAGAGAGTCTGAAGAAAAACT	0.363																																						uc003qsl.2		NA																	0					0						c.(175-177)GAA>TAA		Wilms' tumour 1-associating protein isoform 1							63.0	61.0	61.0					6																	160164726		2203	4300	6503	SO:0001587	stop_gained	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160164726G>T	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.175G>T	6.37:g.160164726G>T	ENSP00000351141:p.Glu59*					WTAP_uc010kjx.2_Nonsense_Mutation_p.E59*|WTAP_uc003qsk.2_Nonsense_Mutation_p.E59*|WTAP_uc003qsm.1_RNA|WTAP_uc003qsn.2_Nonsense_Mutation_p.E59*	p.E59*	NM_004906	NP_004897	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	5	397	+		Breast(66;0.000776)|Ovarian(120;0.0303)	59					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Nonsense_Mutation	SNP	ENST00000358372.4	37	c.175G>T	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	G	50	16.613016	0.99867	.	.	ENSG00000146457	ENST00000358372;ENST00000337387	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-0.0368	20.33	0.98713	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	ENSP00000336911:E59X	E	+	1	0	WTAP	160084716	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.852000	0.99516	2.810000	0.96702	0.585000	0.79938	GAA		0.363	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		9	33	1	0	2.18e-05	2.3e-05	9	33				
THBS2	7058	broad.mit.edu	37	6	169623478	169623478	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:169623478C>G	ENST00000366787.3	-	19	3115	c.2866G>C	c.(2866-2868)Gag>Cag	p.E956Q	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	956					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AAGTCTGTCTCACTGATGGCA	0.468																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NA																	0				ovary(5)	5						c.(2866-2868)GAG>CAG		thrombospondin 2 precursor							144.0	121.0	129.0					6																	169623478		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169623478C>G		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2866G>C	6.37:g.169623478C>G	ENSP00000355751:p.Glu956Gln						p.E956Q	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	19	3114	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	956			TSP type-3 8.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2866G>C	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957360	0.53400	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.97850	-4.57	4.73	4.73	0.59995	.	0.000000	0.41396	U	0.000898	D	0.95357	0.8493	L	0.39020	1.185	0.27840	N	0.941123	D	0.60160	0.987	P	0.53809	0.735	D	0.91268	0.5042	10	0.20519	T	0.43	-56.5793	17.7107	0.88321	0.0:1.0:0.0:0.0	.	956	P35442	TSP2_HUMAN	Q	956;214	ENSP00000355751:E956Q	ENSP00000355751:E956Q	E	-	1	0	THBS2	169365403	0.998000	0.40836	0.954000	0.39281	0.952000	0.60782	3.480000	0.53172	2.150000	0.67090	0.471000	0.43371	GAG		0.468	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		13	67	0	0	0	0	13	67				
TBP	6908	broad.mit.edu	37	6	170873691	170873691	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr6:170873691C>T	ENST00000392092.2	+	4	835	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	TBP_ENST00000230354.6_Missense_Mutation_p.R186C|TBP_ENST00000540980.1_Missense_Mutation_p.R166C	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	186					cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		CATTGCACTTCGTGCCCGAAA	0.318																																						uc003qxt.2		NA																	0				ovary(1)	1						c.(556-558)CGT>TGT		TATA box binding protein							80.0	81.0	81.0					6																	170873691		2203	4300	6503	SO:0001583	missense	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170873691C>T	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.556C>T	6.37:g.170873691C>T	ENSP00000375942:p.Arg186Cys					TBP_uc003qxu.2_Missense_Mutation_p.R186C|TBP_uc011ehf.1_Missense_Mutation_p.R166C	p.R186C	NM_003194	NP_003185	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	4	788	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	186			1		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Missense_Mutation	SNP	ENST00000392092.2	37	c.556C>T	CCDS5315.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347053	0.61183	.	.	ENSG00000112592	ENST00000421512;ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091	T;T;T	0.44083	0.93;0.93;0.93	5.84	4.97	0.65823	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	P	0.59546	0.859	T	0.51012	-0.8759	10	0.87932	D	0	-5.5976	10.1597	0.42844	0.1339:0.7969:0.0:0.0692	.	186	P20226	TBP_HUMAN	C	186;186;166;186;163	ENSP00000375942:R186C;ENSP00000442132:R166C;ENSP00000230354:R186C	ENSP00000230354:R186C	R	+	1	0	TBP	170715616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.484000	0.60271	2.764000	0.94973	0.650000	0.86243	CGT		0.318	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		11	34	0	0	0	0	11	34				
EIF2AK1	27102	broad.mit.edu	37	7	6089666	6089666	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:6089666C>G	ENST00000199389.6	-	3	434	c.288G>C	c.(286-288)caG>caC	p.Q96H	RN7SL851P_ENST00000480512.2_RNA|EIF2AK1_ENST00000536084.1_Intron	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	96					negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.Q96H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TGATAAACGTCTGGCAAAGTA	0.318																																						uc003spp.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4						c.(286-288)CAG>CAC		eukaryotic translation initiation factor 2-alpha							55.0	52.0	53.0					7																	6089666		2203	4300	6503	SO:0001583	missense	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6089666C>G	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.288G>C	7.37:g.6089666C>G	ENSP00000199389:p.Gln96His					EIF2AK1_uc003spq.2_Missense_Mutation_p.Q96H|EIF2AK1_uc011jwm.1_Intron	p.Q96H	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	3	434	-		Ovarian(82;0.0423)	96					A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	c.288G>C	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	14.92	2.678288	0.47886	.	.	ENSG00000086232	ENST00000199389;ENST00000446699	T;T	0.15017	2.46;2.46	4.96	3.07	0.35406	.	0.114465	0.64402	D	0.000010	T	0.12518	0.0304	L	0.47716	1.5	0.80722	D	1	B;B	0.32781	0.384;0.27	B;B	0.28305	0.088;0.027	T	0.10800	-1.0614	10	0.36615	T	0.2	-11.3577	5.7231	0.17998	0.0:0.6321:0.137:0.231	.	96;96	Q9BQI3-2;Q9BQI3	.;E2AK1_HUMAN	H	96	ENSP00000199389:Q96H;ENSP00000397590:Q96H	ENSP00000199389:Q96H	Q	-	3	2	EIF2AK1	6056192	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	0.835000	0.27531	0.426000	0.26116	0.442000	0.29010	CAG		0.318	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		9	35	0	0	0	0	9	35				
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:6426892C>A	ENST00000348035.4	+	2	298	c.85C>A	c.(85-87)Cct>Act	p.P29T	RAC1_ENST00000356142.4_Missense_Mutation_p.P29T|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	CAATGCATTTCCTGGAGAATA	0.353																																						uc003spx.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(2)	2						c.(85-87)CCT>ACT		ras-related C3 botulinum toxin substrate 1	Pravastatin(DB00175)|Simvastatin(DB00641)						112.0	111.0	111.0					7																	6426892		2203	4297	6500	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6426892C>A	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.85C>A	7.37:g.6426892C>A	ENSP00000258737:p.Pro29Thr					RAC1_uc003spw.2_Missense_Mutation_p.P29T	p.P29T	NM_006908	NP_008839	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	2	326	+		Ovarian(82;0.0776)	29					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.85C>A	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044576	0.93685	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	T;T	0.76448	-1.02;-1.02	6.05	6.05	0.98169	Small GTP-binding protein domain (1);	0.049770	0.85682	D	0.000000	D	0.87696	0.6242	M	0.67625	2.065	0.80722	D	1	P;P	0.52170	0.951;0.941	D;P	0.67231	0.95;0.893	D	0.87342	0.2332	10	0.87932	D	0	.	20.2117	0.98287	0.0:1.0:0.0:0.0	.	29;29	P63000;A4D2P0	RAC1_HUMAN;.	T	29	ENSP00000258737:P29T;ENSP00000348461:P29T	ENSP00000258737:P29T	P	+	1	0	RAC1	6393417	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.622000	0.83099	2.878000	0.98634	0.650000	0.86243	CCT		0.353	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		20	54	1	0	9.96e-16	1.08e-15	20	54				
TMEM106B	54664	broad.mit.edu	37	7	12254482	12254482	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:12254482G>A	ENST00000396667.3	+	3	368	c.46G>A	c.(46-48)Gat>Aat	p.D16N	TMEM106B_ENST00000396668.3_Missense_Mutation_p.D16N|TMEM106B_ENST00000453686.1_3'UTR	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	16					cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AAGCAAAGAAGATGCTTATGA	0.353																																						uc011jxk.1		NA																	0					0						c.(46-48)GAT>AAT		transmembrane protein 106B							71.0	65.0	67.0					7																	12254482		2203	4300	6503	SO:0001583	missense	54664					integral to membrane		g.chr7:12254482G>A	BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.46G>A	7.37:g.12254482G>A	ENSP00000379901:p.Asp16Asn					TMEM106B_uc003ssh.2_Missense_Mutation_p.D16N	p.D16N	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.185)	3	446	+			16					A4D108|Q53FL9|Q8N4L0	Missense_Mutation	SNP	ENST00000396667.3	37	c.46G>A	CCDS5358.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601632	0.66445	.	.	ENSG00000106460	ENST00000396668;ENST00000444443;ENST00000396667;ENST00000442107	T;T;T	0.27720	1.65;1.65;1.65	5.41	5.41	0.78517	.	0.255897	0.34200	N	0.004164	T	0.25865	0.0630	N	0.22421	0.69	0.47819	D	0.99952	B	0.26708	0.157	B	0.34301	0.179	T	0.05321	-1.0892	10	0.31617	T	0.26	-20.3309	15.1072	0.72329	0.0:0.1411:0.8589:0.0	.	16	Q9NUM4	T106B_HUMAN	N	16	ENSP00000379902:D16N;ENSP00000401302:D16N;ENSP00000379901:D16N	ENSP00000379901:D16N	D	+	1	0	TMEM106B	12221007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.411000	0.80078	2.721000	0.93114	0.655000	0.94253	GAT		0.353	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374		11	31	0	0	0	0	11	31				
DNAH11	8701	broad.mit.edu	37	7	21678666	21678666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:21678666G>T	ENST00000409508.3	+	28	4958	c.4927G>T	c.(4927-4929)Gga>Tga	p.G1643*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.G1648*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1648	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTCTCAAAAGGAGCTCAGCC	0.398									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(4942-4944)GGA>TGA		dynein, axonemal, heavy chain 11							123.0	118.0	119.0					7																	21678666		1869	4095	5964	SO:0001587	stop_gained	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21678666G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4927G>T	7.37:g.21678666G>T	ENSP00000475939:p.Gly1643*						p.G1648*	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			28	4973	+			1648			Stem (By similarity).		Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37	c.4942G>T		.	.	.	.	.	.	.	.	.	.	G	47	13.368308	0.99737	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.7707	0.91890	0.0:0.0:1.0:0.0	.	.	.	.	X	1648	.	ENSP00000330671:G1648X	G	+	1	0	DNAH11	21645191	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.007000	0.70731	2.729000	0.93468	0.650000	0.86243	GGA		0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		9	47	1	0	3.1e-07	3.31e-07	9	47				
STK31	56164	broad.mit.edu	37	7	23768842	23768842	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:23768842G>C	ENST00000355870.3	+	6	576	c.457G>C	c.(457-459)Gat>Cat	p.D153H	STK31_ENST00000354639.3_Missense_Mutation_p.D130H|STK31_ENST00000433467.2_Missense_Mutation_p.D153H|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.D130H	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	153						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CATTCCTTCTGATCAAGAAGT	0.328																																						uc003sws.3		NA																	0				skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(457-459)GAT>CAT		serine/threonine kinase 31 isoform a							75.0	79.0	78.0					7																	23768842		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23768842G>C	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.457G>C	7.37:g.23768842G>C	ENSP00000348132:p.Asp153His					STK31_uc003swt.3_Missense_Mutation_p.D130H|STK31_uc011jze.1_Missense_Mutation_p.D153H|STK31_uc010kuq.2_Missense_Mutation_p.D130H	p.D153H	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			6	524	+			153					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.457G>C	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	g	10.55	1.381937	0.24944	.	.	ENSG00000196335	ENST00000355870;ENST00000422637;ENST00000456014;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T;T;T	0.35236	1.57;1.32;1.73;1.57;1.57;1.57	5.87	2.0	0.26442	.	0.601209	0.17803	N	0.161499	T	0.18467	0.0443	N	0.14661	0.345	0.22989	N	0.99847	B;B	0.31790	0.34;0.053	B;B	0.29353	0.101;0.039	T	0.12451	-1.0547	10	0.40728	T	0.16	-0.6386	6.6368	0.22887	0.228:0.0:0.6425:0.1295	.	153;153	B4DZ06;Q9BXU1	.;STK31_HUMAN	H	153;109;130;153;130;130	ENSP00000348132:D153H;ENSP00000414087:D109H;ENSP00000389340:D130H;ENSP00000411852:D153H;ENSP00000346660:D130H;ENSP00000406146:D130H	ENSP00000346660:D130H	D	+	1	0	STK31	23735367	1.000000	0.71417	0.993000	0.49108	0.902000	0.53008	1.547000	0.36190	0.083000	0.17047	-1.452000	0.01034	GAT		0.328	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		10	22	0	0	0	0	10	22				
CHN2	1124	broad.mit.edu	37	7	29552289	29552289	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:29552289G>A	ENST00000222792.6	+	13	1875	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	CHN2_ENST00000439711.2_Missense_Mutation_p.D267N|CHN2_ENST00000546235.1_Missense_Mutation_p.D434N|CHN2_ENST00000421775.2_Missense_Mutation_p.D255N|AC007255.8_ENST00000447171.1_RNA|CHN2_ENST00000539389.1_Missense_Mutation_p.D305N|AC007255.8_ENST00000450540.2_RNA|CHN2_ENST00000539406.1_Missense_Mutation_p.D524N|CHN2_ENST00000409041.4_Missense_Mutation_p.D313N|CHN2_ENST00000495789.2_Missense_Mutation_p.D462N|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000435288.2_Missense_Mutation_p.D173N|CHN2_ENST00000424025.2_Missense_Mutation_p.D268N	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	449	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CACCCTGCATGATATGCGGTA	0.463																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.2		NA																	0				ovary(2)	2						c.(1345-1347)GAT>AAT		beta chimerin isoform 2							84.0	85.0	85.0					7																	29552289		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29552289G>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1345G>A	7.37:g.29552289G>A	ENSP00000222792:p.Asp449Asn					CHN2_uc011jzs.1_Missense_Mutation_p.D524N|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Missense_Mutation_p.D414N|CHN2_uc011jzt.1_Missense_Mutation_p.D462N|CHN2_uc010kvd.2_Missense_Mutation_p.D305N|CHN2_uc011jzu.1_Missense_Mutation_p.D434N|CHN2_uc010kvg.2_Missense_Mutation_p.D267N|CHN2_uc010kvh.2_Missense_Mutation_p.D209N|CHN2_uc010kvi.2_Missense_Mutation_p.D241N|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Missense_Mutation_p.D313N|CHN2_uc010kvf.2_Missense_Mutation_p.D255N|CHN2_uc010kvj.2_Missense_Mutation_p.D222N|CHN2_uc010kvk.2_Missense_Mutation_p.D124N|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.D268N|CHN2_uc011jzv.1_Missense_Mutation_p.D242N	p.D449N	NM_004067	NP_004058	P52757	CHIO_HUMAN			13	1782	+			449			Rho-GAP.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.1345G>A	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125725	0.77436	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000435288;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.23348	2.76;2.76;1.91;2.76;2.76;2.76;2.76;2.76;2.76;2.76	5.51	5.51	0.81932	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.50137	0.1598	M	0.68952	2.095	0.80722	D	1	B;B;D;D;P;P;D;P;P;P;P;D;P;D	0.89917	0.39;0.319;0.997;1.0;0.515;0.671;0.987;0.739;0.589;0.838;0.634;0.997;0.755;0.997	B;B;D;D;B;B;D;P;B;B;B;D;B;D	0.87578	0.133;0.1;0.989;0.998;0.31;0.443;0.959;0.574;0.222;0.346;0.193;0.98;0.31;0.98	T	0.23190	-1.0195	10	0.22706	T	0.39	.	19.3788	0.94523	0.0:0.0:1.0:0.0	.	242;434;462;524;268;222;241;209;267;255;305;449;313;449	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	N	524;449;173;462;305;434;313;268;267;255	ENSP00000444063:D524N;ENSP00000222792:D449N;ENSP00000400282:D173N;ENSP00000438587:D462N;ENSP00000440526:D305N;ENSP00000442812:D434N;ENSP00000386849:D313N;ENSP00000406337:D268N;ENSP00000387425:D267N;ENSP00000394284:D255N	ENSP00000222792:D449N	D	+	1	0	CHN2	29518814	1.000000	0.71417	0.964000	0.40570	0.886000	0.51366	9.813000	0.99286	2.755000	0.94549	0.650000	0.86243	GAT		0.463	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		13	49	0	0	0	0	13	49				
CCDC129	223075	broad.mit.edu	37	7	31614170	31614170	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:31614170G>T	ENST00000407970.3	+	7	450	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000409210.1_Nonsense_Mutation_p.E46*|CCDC129_ENST00000319386.3_Nonsense_Mutation_p.E138*|CCDC129_ENST00000451887.2_Nonsense_Mutation_p.E164*	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	138										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGAATGGCTGGAATTTTGGGA	0.438																																						uc003tcj.1		NA																	0					0						c.(412-414)GAA>TAA		coiled-coil domain containing 129							142.0	154.0	150.0					7																	31614170		2203	4300	6503	SO:0001587	stop_gained	223075							g.chr7:31614170G>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.412G>T	7.37:g.31614170G>T	ENSP00000384416:p.Glu138*					CCDC129_uc011kad.1_Nonsense_Mutation_p.E148*|CCDC129_uc003tci.1_Nonsense_Mutation_p.E137*|CCDC129_uc011kae.1_Nonsense_Mutation_p.E164*|CCDC129_uc003tck.1_Nonsense_Mutation_p.E46*	p.E138*	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			7	1405	+			138					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Nonsense_Mutation	SNP	ENST00000407970.3	37	c.412G>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529051	0.64860	.	.	ENSG00000180347	ENST00000409717;ENST00000456011;ENST00000319386;ENST00000407970;ENST00000454513;ENST00000451887;ENST00000538406;ENST00000409210	.	.	.	5.66	3.84	0.44239	.	0.399351	0.21296	N	0.076889	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.4013	10.4054	0.44254	0.0:0.2412:0.5095:0.2493	.	.	.	.	X	138;138;138;138;138;164;148;46	.	ENSP00000313062:E138X	E	+	1	0	CCDC129	31580695	0.989000	0.36119	0.988000	0.46212	0.949000	0.60115	0.595000	0.24029	0.733000	0.32492	0.563000	0.77884	GAA		0.438	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		29	102	1	0	4.03e-09	4.35e-09	29	102				
UPP1	7378	broad.mit.edu	37	7	48147942	48147942	+	Silent	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:48147942G>T	ENST00000331803.4	+	10	1544	c.921G>T	c.(919-921)ctG>ctT	p.L307L	UPP1_ENST00000395564.4_Silent_p.L307L|UPP1_ENST00000429491.2_Silent_p.L170L|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Silent_p.L307L			Q16831	UPP1_HUMAN	uridine phosphorylase 1	307					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	AGAAGAAACTGAGCAAGGCCT	0.567																																						uc003toj.2		NA																	0					0						c.(919-921)CTG>CTT		uridine phosphorylase 1							49.0	52.0	51.0					7																	48147942		2203	4300	6503	SO:0001819	synonymous_variant	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48147942G>T	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.921G>T	7.37:g.48147942G>T						UPP1_uc003tok.2_Silent_p.L307L|UPP1_uc003tol.2_Silent_p.L307L|UPP1_uc011kch.1_Silent_p.L100L|UPP1_uc003ton.2_Silent_p.L170L|UPP1_uc003too.2_Silent_p.L170L	p.L307L	NM_181597	NP_853628	Q16831	UPP1_HUMAN			10	1450	+			307					D3DVM4|Q15362	Silent	SNP	ENST00000331803.4	37	c.921G>T	CCDS5507.1																																																																																				0.567	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		11	30	1	0	0.000673444	0.000697866	11	30				
EGFR	1956	broad.mit.edu	37	7	55241688	55241688	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:55241688C>G	ENST00000275493.2	+	18	2313	c.2136C>G	c.(2134-2136)ttC>ttG	p.F712L	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.F659L|EGFR_ENST00000455089.1_Missense_Mutation_p.F667L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	712	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.F712F(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAACTGAATTCAAAAAGATCA	0.562		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		1	Substitution - coding silent(1)	p.F712L(2)|p.F712S(1)|p.F712F(1)	ovary(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2134-2136)TTC>TTG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						81.0	83.0	82.0					7																	55241688		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55241688C>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2136C>G	7.37:g.55241688C>G	ENSP00000275493:p.Phe712Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.F667L|EGFR_uc011kco.1_Missense_Mutation_p.F659L	p.F712L	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		18	2382	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		712			Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2136C>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	0.320	-0.962521	0.02249	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.66815	-0.23;-0.23;-0.23	5.83	2.73	0.32206	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38348	0.1037	N	0.13198	0.31	0.48632	D	0.999683	B;B	0.12013	0.005;0.002	B;B	0.09377	0.004;0.004	T	0.27088	-1.0084	10	0.02654	T	1	.	5.3764	0.16168	0.1907:0.6134:0.0:0.1959	.	667;712	Q504U8;P00533	.;EGFR_HUMAN	L	667;582;712;659	ENSP00000415559:F667L;ENSP00000275493:F712L;ENSP00000395243:F659L	ENSP00000275493:F712L	F	+	3	2	EGFR	55209182	0.997000	0.39634	0.967000	0.41034	0.306000	0.27790	0.442000	0.21628	0.311000	0.23014	0.563000	0.77884	TTC		0.562	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		16	49	0	0	0	0	16	49				
PHTF2	57157	broad.mit.edu	37	7	77558594	77558594	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:77558594C>G	ENST00000248550.7	+	11	1364	c.1288C>G	c.(1288-1290)Cag>Gag	p.Q430E	PHTF2_ENST00000416283.2_Missense_Mutation_p.Q396E|PHTF2_ENST00000307305.8_Missense_Mutation_p.Q392E|PHTF2_ENST00000422959.2_Missense_Mutation_p.Q396E|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000275575.7_Missense_Mutation_p.Q392E|PHTF2_ENST00000424760.1_Missense_Mutation_p.Q392E			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GGAAAATCATCAGATTAATCC	0.388																																						uc003ugs.3		NA																	0				ovary(1)	1						c.(1288-1290)CAG>GAG		putative homeodomain transcription factor 2							131.0	127.0	128.0					7																	77558594		1876	4123	5999	SO:0001583	missense	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77558594C>G	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1288C>G	7.37:g.77558594C>G	ENSP00000248550:p.Gln430Glu					PHTF2_uc003ugp.2_Missense_Mutation_p.Q392E|PHTF2_uc003ugq.3_Missense_Mutation_p.Q392E|PHTF2_uc010ldv.2_Missense_Mutation_p.Q392E|PHTF2_uc003ugt.3_Missense_Mutation_p.Q396E|PHTF2_uc003ugu.3_Missense_Mutation_p.Q392E|PHTF2_uc003ugv.2_Missense_Mutation_p.Q255E|PHTF2_uc010ldw.1_Missense_Mutation_p.Q255E	p.Q430E	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN			11	1414	+			430					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37	c.1288C>G		.	.	.	.	.	.	.	.	.	.	C	14.11	2.437359	0.43224	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.82	5.82	0.92795	.	0.299368	0.37906	N	0.001889	T	0.52092	0.1713	L	0.36672	1.1	0.49389	D	0.999781	B;B;B;B;B;B;B	0.29531	0.152;0.205;0.054;0.247;0.008;0.247;0.002	B;B;B;B;B;B;B	0.28011	0.085;0.053;0.034;0.05;0.008;0.05;0.01	T	0.50676	-0.8800	9	0.06494	T	0.89	-4.4689	20.0953	0.97838	0.0:1.0:0.0:0.0	.	234;392;255;396;430;392;392	Q8WVD6;Q8N3S3-4;Q8N5I6;Q8N3S3-2;Q8N3S3;Q8N3S3-3;B3KQZ2	.;.;.;.;PHTF2_HUMAN;.;.	E	396;396;392;392;392;396;430	.	ENSP00000248550:Q430E	Q	+	1	0	PHTF2	77396530	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	5.359000	0.66074	2.767000	0.95098	0.655000	0.94253	CAG		0.388	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		5	14	0	0	0	0	5	14				
CACNA2D1	781	broad.mit.edu	37	7	81598239	81598239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:81598239C>T	ENST00000356253.5	-	29	2650	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.E787K|CACNA2D1_ENST00000535308.1_Intron			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	799					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATATATATTTCTACAGCTTTG	0.269																																						uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(2359-2361)GAA>AAA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						101.0	108.0	106.0					7																	81598239		2203	4294	6497	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81598239C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2395G>A	7.37:g.81598239C>T	ENSP00000348589:p.Glu799Lys					CACNA2D1_uc011kgy.1_Intron	p.E787K	NM_000722	NP_000713	P54289	CA2D1_HUMAN			29	2615	-			799			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2359G>A		.	.	.	.	.	.	.	.	.	.	C	22.9	4.351212	0.82132	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.73897	-0.79;-0.79	5.07	5.07	0.68467	.	0.098626	0.64402	D	0.000001	T	0.77260	0.4104	M	0.70275	2.135	0.80722	D	1	P	0.44946	0.846	P	0.47786	0.557	T	0.75488	-0.3300	10	0.29301	T	0.29	-29.5443	13.5835	0.61917	0.0:0.8445:0.1554:0.0	.	787	P54289-2	.	K	787;806;799	ENSP00000349320:E787K;ENSP00000348589:E799K	ENSP00000284088:E806K	E	-	1	0	CACNA2D1	81436175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.220000	0.65267	2.518000	0.84900	0.484000	0.47621	GAA		0.269	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				16	76	0	0	0	0	16	76				
PCLO	27445	broad.mit.edu	37	7	82586178	82586178	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:82586178C>T	ENST00000333891.9	-	5	4428	c.4091G>A	c.(4090-4092)gGa>gAa	p.G1364E	PCLO_ENST00000423517.2_Missense_Mutation_p.G1364E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAAGAATATCCCGTGTCGCT	0.423																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(4090-4092)GGA>GAA		piccolo isoform 1							56.0	54.0	54.0					7																	82586178		1857	4089	5946	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82586178C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4091G>A	7.37:g.82586178C>T	ENSP00000334319:p.Gly1364Glu					PCLO_uc003uhv.2_Missense_Mutation_p.G1364E	p.G1364E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	4380	-			1295						Missense_Mutation	SNP	ENST00000333891.9	37	c.4091G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.430035	0.43122	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.28895	1.59;1.61	5.67	5.67	0.87782	.	.	.	.	.	T	0.59390	0.2190	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.61598	-0.7030	9	0.87932	D	0	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	1364;1364	Q9Y6V0-5;Q9Y6V0-6	.;.	E	1295;1364;1364	ENSP00000334319:G1364E;ENSP00000388393:G1364E	ENSP00000334319:G1364E	G	-	2	0	PCLO	82424114	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	4.506000	0.60428	2.659000	0.90383	0.655000	0.94253	GGA		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	24	0	0	0	0	6	24				
ABCB1	5243	broad.mit.edu	37	7	87179592	87179592	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:87179592C>G	ENST00000265724.3	-	13	1662	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L	ABCB1_ENST00000543898.1_Silent_p.L351L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	415	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)	TCTGCACCTTCAGGTTCAGAC	0.502																																						uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1243-1245)CTG>CTC		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						93.0	79.0	83.0					7																	87179592		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.chr7:87179592C>G	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.1245G>C	7.37:g.87179592C>G						ABCB1_uc011khc.1_Silent_p.L351L	p.L415L	NM_000927	NP_000918	P08183	MDR1_HUMAN			13	1663	-	Esophageal squamous(14;0.00164)		415			ABC transporter 1.|Cytoplasmic (Potential).		A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	c.1245G>C	CCDS5608.1																																																																																				0.502	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		8	35	0	0	0	0	8	35				
ARPC1B	10095	broad.mit.edu	37	7	98992106	98992106	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:98992106C>G	ENST00000451682.1	+	12	1422	c.1113C>G	c.(1111-1113)atC>atG	p.I371M	PDAP1_ENST00000496335.1_Intron|ARPC1B_ENST00000252725.5_Missense_Mutation_p.I371M			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	371					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ACCTCAAGATCAAATGACCTG	0.572																																						uc003upz.2		NA																	0					0						c.(1111-1113)ATC>ATG		actin related protein 2/3 complex subunit 1B							141.0	119.0	126.0					7																	98992106		2203	4300	6503	SO:0001583	missense	10095				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr7:98992106C>G	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.1113C>G	7.37:g.98992106C>G	ENSP00000389631:p.Ile371Met					ARPC1B_uc003uqa.2_Missense_Mutation_p.I371M|ARPC1B_uc003uqb.2_Missense_Mutation_p.I371M|ARPC1B_uc003uqc.2_3'UTR|ARPC1B_uc003uqd.2_Missense_Mutation_p.I183M	p.I371M	NM_005720	NP_005711	O15143	ARC1B_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		10	1202	+	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		371					Q9BU00	Missense_Mutation	SNP	ENST00000451682.1	37	c.1113C>G	CCDS5661.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306139	0.60305	.	.	ENSG00000130429	ENST00000252725;ENST00000451682	T;T	0.69685	-0.42;-0.42	5.54	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.65698	0.2716	M	0.77103	2.36	0.80722	D	1	P	0.42483	0.781	B	0.36244	0.22	T	0.70854	-0.4759	10	0.59425	D	0.04	-34.8276	13.5649	0.61813	0.156:0.844:0.0:0.0	.	371	O15143	ARC1B_HUMAN	M	371	ENSP00000252725:I371M;ENSP00000389631:I371M	ENSP00000252725:I371M	I	+	3	3	ARPC1B	98830042	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.388000	0.34442	1.296000	0.44742	0.655000	0.94253	ATC		0.572	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		15	52	0	0	0	0	15	52				
TRIM4	89122	broad.mit.edu	37	7	99489924	99489924	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:99489924C>T	ENST00000355947.2	-	7	1494	c.1365G>A	c.(1363-1365)ggG>ggA	p.G455G	TRIM4_ENST00000349062.2_Silent_p.G429G	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	455	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AGGAGACATTCCCAGTCCCAC	0.557																																						uc003usd.2		NA																	0				ovary(1)|kidney(1)	2						c.(1363-1365)GGG>GGA		tripartite motif protein TRIM4 isoform alpha							150.0	146.0	147.0					7																	99489924		2203	4300	6503	SO:0001819	synonymous_variant	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99489924C>T	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1365G>A	7.37:g.99489924C>T						TRIM4_uc003use.2_Silent_p.G429G|TRIM4_uc011kjc.1_Silent_p.G285G	p.G455G	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN			7	1495	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	455			B30.2/SPRY.		A4D298|Q75MK1|Q96F06|Q9C036	Silent	SNP	ENST00000355947.2	37	c.1365G>A	CCDS5679.1																																																																																				0.557	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		23	102	0	0	0	0	23	102				
LAMTOR4	389541	broad.mit.edu	37	7	99751027	99751027	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:99751027C>T	ENST00000341942.5	+	3	155	c.89C>T	c.(88-90)tCt>tTt	p.S30F	C7orf43_ENST00000498638.1_5'Flank|LAMTOR4_ENST00000441173.1_Missense_Mutation_p.S30F|LAMTOR4_ENST00000468582.1_3'UTR	NM_001008395.2	NP_001008396.1	Q0VGL1	LTOR4_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	30					cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											ATGCAGTCATCTGGGGACCTG	0.607																																						uc003utq.2		NA																	0					0						c.(88-90)TCT>TTT		hypothetical protein LOC389541							113.0	107.0	109.0					7																	99751027		2203	4300	6503	SO:0001583	missense	389541							g.chr7:99751027C>T		CCDS34702.1	7q22	2012-09-24	2012-09-24	2012-09-24	ENSG00000188186	ENSG00000188186			33772	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 59"""	C7orf59		22980980	Standard	NM_001008395		Approved		uc003utq.2	Q0VGL1	OTTHUMG00000154854	ENST00000341942.5:c.89C>T	7.37:g.99751027C>T	ENSP00000343118:p.Ser30Phe						p.S30F	NM_001008395	NP_001008396	Q0VGL1	CG059_HUMAN			3	155	+			30						Missense_Mutation	SNP	ENST00000341942.5	37	c.89C>T	CCDS34702.1	.	.	.	.	.	.	.	.	.	.	c	16.19	3.052082	0.55218	.	.	ENSG00000188186	ENST00000341942;ENST00000441173	T;T	0.26373	1.74;2.86	5.29	5.29	0.74685	.	0.058909	0.64402	D	0.000001	T	0.38957	0.1060	.	.	.	0.44627	D	0.997605	P	0.49447	0.924	P	0.51135	0.66	T	0.16188	-1.0411	9	0.62326	D	0.03	-5.6979	14.7895	0.69830	0.0:1.0:0.0:0.0	.	30	Q0VGL1	CG059_HUMAN	F	30	ENSP00000343118:S30F;ENSP00000387926:S30F	ENSP00000343118:S30F	S	+	2	0	C7orf59	99588963	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	5.092000	0.64511	2.617000	0.88574	0.651000	0.88453	TCT		0.607	LAMTOR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337373.2	NM_001008395		32	114	0	0	0	0	32	114				
SRPK2	6733	broad.mit.edu	37	7	104783666	104783666	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:104783666C>G	ENST00000393651.3	-	10	1012	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q	SRPK2_ENST00000489828.1_Missense_Mutation_p.E298Q|SRPK2_ENST00000357311.3_Missense_Mutation_p.E298Q	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ATTTTCCTTTCAGCTTCTCGC	0.408																																						uc003vct.2		NA																	0				central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(892-894)GAA>CAA		serine/arginine-rich protein-specific kinase 2							126.0	113.0	118.0					7																	104783666		2203	4300	6503	SO:0001583	missense	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104783666C>G	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.925G>C	7.37:g.104783666C>G	ENSP00000377262:p.Glu309Gln					SRPK2_uc003vcu.2_Missense_Mutation_p.E298Q|SRPK2_uc003vcv.2_Missense_Mutation_p.E309Q|SRPK2_uc003vcw.1_Missense_Mutation_p.E298Q	p.E298Q	NM_182691	NP_872633	P78362	SRPK2_HUMAN			9	1079	-			298			Protein kinase.			Missense_Mutation	SNP	ENST00000393651.3	37	c.892G>C	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309810	0.81247	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	T;T;T	0.22539	1.95;1.95;1.95	5.68	5.68	0.88126	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	L	0.41415	1.275	0.80722	D	1	D;D	0.67145	0.996;0.981	D;D	0.75484	0.986;0.954	T	0.01725	-1.1287	10	0.25751	T	0.34	-25.4667	19.7964	0.96487	0.0:1.0:0.0:0.0	.	309;298	P78362-2;P78362	.;SRPK2_HUMAN	Q	309;298;298	ENSP00000377262:E309Q;ENSP00000349863:E298Q;ENSP00000419791:E298Q	ENSP00000349863:E298Q	E	-	1	0	SRPK2	104570902	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.153000	0.64888	2.683000	0.91414	0.555000	0.69702	GAA		0.408	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		18	81	0	0	0	0	18	81				
LSMEM1	286006	broad.mit.edu	37	7	112124970	112124970	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:112124970C>T	ENST00000312849.4	+	2	460	c.99C>T	c.(97-99)ctC>ctT	p.L33L	LSMEM1_ENST00000439068.2_Silent_p.L33L|LSMEM1_ENST00000429049.1_Silent_p.L33L	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	33						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											AACTAAACCTCTGTCCAGCCG	0.478																																						uc011kmq.1		NA																	0				ovary(1)	1						c.(97-99)CTC>CTT		hypothetical protein LOC286006							128.0	123.0	124.0					7																	112124970		2203	4300	6503	SO:0001819	synonymous_variant	286006					integral to membrane		g.chr7:112124970C>T	AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 53"""	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.99C>T	7.37:g.112124970C>T						C7orf53_uc003vgl.2_RNA|C7orf53_uc003vgm.2_Silent_p.L33L	p.L33L	NM_001134468	NP_001127940	Q8N8F7	CG053_HUMAN			2	234	+			33					Q49AR6	Silent	SNP	ENST00000312849.4	37	c.99C>T	CCDS5756.1																																																																																				0.478	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338716.2	NM_182597		25	74	0	0	0	0	25	74				
NDUFA5	4698	broad.mit.edu	37	7	123185709	123185709	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:123185709C>T	ENST00000355749.2	-	4	664	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	NDUFA5_ENST00000467117.1_5'UTR|NDUFA5_ENST00000471770.1_Missense_Mutation_p.E69K	NM_001282419.1|NM_005000.2	NP_001269348.1|NP_004991.1	Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	69					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|urinary_tract(1)	2						AGTTGGTCTTCTAATTTTTTA	0.313																																						uc003vks.2		NA																	0					0						c.(205-207)GAA>AAA		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						93.0	93.0	93.0					7																	123185709		2203	4298	6501	SO:0001583	missense	4698				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:123185709C>T		CCDS5788.1, CCDS64760.1, CCDS75655.1, CCDS75656.1	7q31.33	2013-06-19	2013-06-19		ENSG00000128609	ENSG00000128609		"""Mitochondrial respiratory chain complex / Complex I"""	7688	protein-coding gene	gene with protein product	"""complex I 13kDa subunit B"", ""ubiquinone reductase"", ""type I dehydrogenase"", ""NADH-ubiquinone oxidoreductase 13 kDa-B subunit"""	601677	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa"""			9763677, 9021153	Standard	XM_005250371		Approved	B13, NUFM, CI-13KD-B, UQOR13, CI-13kB	uc003vks.3	Q16718	OTTHUMG00000157348	ENST00000355749.2:c.205G>A	7.37:g.123185709C>T	ENSP00000347988:p.Glu69Lys					NDUFA5_uc003vkr.2_RNA	p.E69K	NM_005000	NP_004991	Q16718	NDUA5_HUMAN			4	314	-			69					B2RD98|Q5H9R2|Q6IRX7	Missense_Mutation	SNP	ENST00000355749.2	37	c.205G>A	CCDS5788.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.135708|4.135708	0.77662|0.77662	.|.	.|.	ENSG00000128609|ENSG00000128609	ENST00000471770;ENST00000355749;ENST00000470123|ENST00000378795	.|.	.|.	.|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|.	.|.	.|.	.|.	T|T	0.78362|0.78362	0.4271|0.4271	M|M	0.81179|0.81179	2.53|2.53	0.80722|0.80722	D|D	1|1	P|.	0.35844|.	0.524|.	P|.	0.48770|.	0.589|.	T|T	0.79344|0.79344	-0.1842|-0.1842	8|5	0.87932|.	D|.	0|.	.|.	17.9682|17.9682	0.89105|0.89105	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	69|.	Q16718|.	NDUA5_HUMAN|.	K|K	69;69;79|64	.|.	ENSP00000347988:E69K|.	E|R	-|-	1|2	0|0	NDUFA5|NDUFA5	122972945|122972945	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.532000|0.532000	0.34746|0.34746	3.931000|3.931000	0.56529|0.56529	2.599000|2.599000	0.87857|0.87857	0.460000|0.460000	0.39030|0.39030	GAA|AGA		0.313	NDUFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348533.1	NM_005000		13	51	0	0	0	0	13	51				
TMEM209	84928	broad.mit.edu	37	7	129841908	129841908	+	Missense_Mutation	SNP	C	C	T	rs200051270		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:129841908C>T	ENST00000397622.2	-	5	477	c.355G>A	c.(355-357)Gat>Aat	p.D119N	TMEM209_ENST00000462753.1_Missense_Mutation_p.D118N|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Missense_Mutation_p.D119N|TMEM209_ENST00000336804.8_Missense_Mutation_p.D118N	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	119						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GCTGCCAGATCATGTGGAGGC	0.428													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21347	0.0		0.0	False		,,,				2504	0.0					uc003vpn.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(355-357)GAT>AAT		transmembrane protein 209							63.0	63.0	63.0					7																	129841908		1972	4149	6121	SO:0001583	missense	84928					integral to membrane		g.chr7:129841908C>T		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.355G>A	7.37:g.129841908C>T	ENSP00000380747:p.Asp119Asn					TMEM209_uc010lmc.1_Missense_Mutation_p.D119N|TMEM209_uc003vpo.2_Missense_Mutation_p.D119N	p.D119N	NM_032842	NP_116231	Q96SK2	TM209_HUMAN			5	478	-	Melanoma(18;0.0435)		119					A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	ENST00000397622.2	37	c.355G>A	CCDS47712.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.52	2.560929	0.45590	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804;ENST00000484249;ENST00000471985	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.77	5.77	0.91146	.	0.265595	0.44285	D	0.000463	T	0.26195	0.0639	L	0.29908	0.895	0.31305	N	0.687851	B;B;B	0.27316	0.062;0.13;0.175	B;B;B	0.30179	0.051;0.112;0.076	T	0.12066	-1.0562	10	0.21540	T	0.41	-20.4065	17.1486	0.86772	0.0:1.0:0.0:0.0	.	119;119;119	Q96SK2-3;Q96SK2-4;Q96SK2	.;.;TM209_HUMAN	N	119;118;119;118;119;162	ENSP00000380747:D119N;ENSP00000419697:D118N;ENSP00000417258:D119N;ENSP00000338388:D118N;ENSP00000419852:D162N	ENSP00000338388:D118N	D	-	1	0	TMEM209	129629144	1.000000	0.71417	0.831000	0.32960	0.338000	0.28826	4.213000	0.58520	2.729000	0.93468	0.467000	0.42956	GAT		0.428	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842		7	29	0	0	0	0	7	29				
WEE2	494551	broad.mit.edu	37	7	141408625	141408625	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:141408625G>A	ENST00000397541.2	+	1	473	c.67G>A	c.(67-69)Gag>Aag	p.E23K	WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000459753.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	23					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TGAGGAGACTGAGATTGAAGG	0.443																																						uc003vwn.2		NA																	0				ovary(1)|stomach(1)	2						c.(67-69)GAG>AAG		WEE1 homolog 2							157.0	154.0	155.0					7																	141408625		1905	4118	6023	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141408625G>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.67G>A	7.37:g.141408625G>A	ENSP00000380675:p.Glu23Lys					FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.E23K	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			1	473	+	Melanoma(164;0.0171)		23						Missense_Mutation	SNP	ENST00000397541.2	37	c.67G>A	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.221649	0.39300	.	.	ENSG00000214102	ENST00000397541	T	0.22743	1.94	4.72	2.37	0.29283	.	3.207650	0.02113	U	0.055000	T	0.24470	0.0593	M	0.65975	2.015	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.19095	-1.0316	10	0.34782	T	0.22	-13.7903	3.4091	0.07352	0.2673:0.0:0.5469:0.1858	.	23	P0C1S8	WEE2_HUMAN	K	23	ENSP00000380675:E23K	ENSP00000380675:E23K	E	+	1	0	WEE2	141055094	0.811000	0.29063	0.002000	0.10522	0.178000	0.23041	2.207000	0.42788	0.612000	0.30071	0.639000	0.83563	GAG		0.443	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		24	73	0	0	0	0	24	73				
TRPV5	56302	broad.mit.edu	37	7	142605909	142605909	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:142605909G>C	ENST00000265310.1	-	15	2309	c.1961C>G	c.(1960-1962)tCa>tGa	p.S654*		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	654					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCCTTGTCTGAGTTCTTGAA	0.522																																						uc003wby.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1960-1962)TCA>TGA		transient receptor potential cation channel,							74.0	70.0	72.0					7																	142605909		2203	4300	6503	SO:0001587	stop_gained	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142605909G>C	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1961C>G	7.37:g.142605909G>C	ENSP00000265310:p.Ser654*						p.S654*	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			15	2225	-	Melanoma(164;0.059)		654			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Nonsense_Mutation	SNP	ENST00000265310.1	37	c.1961C>G	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099210	0.56183	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	.	.	.	4.84	4.84	0.62591	.	0.518928	0.18769	N	0.131667	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-14.4693	10.6365	0.45569	0.0:0.0:0.7944:0.2056	.	.	.	.	X	654;599	.	ENSP00000265310:S654X	S	-	2	0	TRPV5	142316031	1.000000	0.71417	0.982000	0.44146	0.192000	0.23643	3.758000	0.55220	2.534000	0.85438	0.655000	0.94253	TCA		0.522	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		9	34	0	0	0	0	9	34				
SSPO	23145	broad.mit.edu	37	7	149482281	149482281	+	RNA	SNP	C	C	G	rs201297591		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:149482281C>G	ENST00000378016.2	+	0	2955							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTACCTGCCCAACGCCACCA	0.612																																						uc010lpk.2		NA																	0					0						c.(2953-2955)CCC>CCG		SCO-spondin precursor							99.0	106.0	104.0					7																	149482281		2183	4276	6459			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149482281C>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149482281C>G						SSPO_uc010lpl.1_Missense_Mutation_p.P321R	p.P985P	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		21	2955	+	Melanoma(164;0.165)|Ovarian(565;0.177)		985					Q76B61	Silent	SNP	ENST00000378016.2	37	c.2955C>G																																																																																					0.612	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				11	50	0	0	0	0	11	50				
GBX1	2636	broad.mit.edu	37	7	150845999	150845999	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr7:150845999G>A	ENST00000297537.4	-	2	768	c.769C>T	c.(769-771)Cct>Tct	p.P257S	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	257					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCCCCCAGGAGCTGTGACC	0.582																																						uc011kvg.1		NA																	0					0						c.(769-771)CCT>TCT		gastrulation brain homeo box 1							77.0	87.0	84.0					7																	150845999		1928	4104	6032	SO:0001583	missense	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150845999G>A	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.769C>T	7.37:g.150845999G>A	ENSP00000297537:p.Pro257Ser						p.P257S	NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1001	-			257						Missense_Mutation	SNP	ENST00000297537.4	37	c.769C>T	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	G	7.477	0.647961	0.14516	.	.	ENSG00000164900	ENST00000297537	D	0.95447	-3.71	4.91	4.91	0.64330	Homeodomain-like (1);	0.130133	0.53938	D	0.000054	D	0.88826	0.6542	N	0.14661	0.345	0.80722	D	1	B	0.15141	0.012	B	0.11329	0.006	D	0.83775	0.0222	10	0.02654	T	1	-14.2749	16.8306	0.85943	0.0:0.0:1.0:0.0	.	257	Q14549	GBX1_HUMAN	S	257	ENSP00000297537:P257S	ENSP00000297537:P257S	P	-	1	0	GBX1	150476932	0.993000	0.37304	0.863000	0.33907	0.993000	0.82548	3.842000	0.55858	2.572000	0.86782	0.591000	0.81541	CCT		0.582	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			26	69	0	0	0	0	26	69				
XKR6	286046	broad.mit.edu	37	8	10755509	10755509	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:10755509C>G	ENST00000416569.2	-	3	1905	c.1879G>C	c.(1879-1881)Gac>Cac	p.D627H	XKR6_ENST00000304437.2_Missense_Mutation_p.D348H	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	627						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGTGGTCCGTCTCGATATCGA	0.463																																						uc003wtk.1		NA																	0				ovary(1)|skin(1)	2						c.(1879-1881)GAC>CAC		XK, Kell blood group complex subunit-related							124.0	116.0	119.0					8																	10755509		2203	4300	6503	SO:0001583	missense	286046					integral to membrane		g.chr8:10755509C>G	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1879G>C	8.37:g.10755509C>G	ENSP00000416707:p.Asp627His						p.D627H	NM_173683	NP_775954	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1906	-			627					Q8TBA0	Missense_Mutation	SNP	ENST00000416569.2	37	c.1879G>C	CCDS5978.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.83|16.83	3.231828|3.231828	0.58777|0.58777	.|.	.|.	ENSG00000171044|ENSG00000171044	ENST00000304437;ENST00000416569|ENST00000382461	D;D|.	0.87103|.	-2.17;-2.21|.	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71467|0.71467	0.3343|0.3343	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.76494|.	0.999|.	D|.	0.81914|.	0.995|.	T|T	0.71182|0.71182	-0.4668|-0.4668	10|5	0.66056|.	D|.	0.02|.	-8.6594|-8.6594	16.5343|16.5343	0.84369|0.84369	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	627|.	Q5GH73|.	XKR6_HUMAN|.	H|D	348;627|403	ENSP00000307120:D348H;ENSP00000416707:D627H|.	ENSP00000307120:D348H|.	D|E	-|-	1|3	0|2	XKR6|XKR6	10792919|10792919	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	7.638000|7.638000	0.83328|0.83328	2.359000|2.359000	0.80004|0.80004	0.549000|0.549000	0.68633|0.68633	GAC|GAG		0.463	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		20	34	0	0	0	0	20	34				
FGL1	2267	broad.mit.edu	37	8	17731930	17731930	+	Silent	SNP	G	G	A	rs368709329		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:17731930G>A	ENST00000398056.2	-	6	1160	c.345C>T	c.(343-345)tcC>tcT	p.S115S	FGL1_ENST00000522444.1_Silent_p.S115S|FGL1_ENST00000518650.1_Silent_p.S115S|FGL1_ENST00000427924.1_Silent_p.S115S|FGL1_ENST00000381840.2_Silent_p.S115S|FGL1_ENST00000398054.1_Silent_p.S115S|FGL1_ENST00000381841.2_Silent_p.S115S			Q08830	FGL1_HUMAN	fibrinogen-like 1	115	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CTCCTCCATCGGACATGTCAC	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		16744	0.0		0.0	False		,,,				2504	0.001					uc003wxx.2		NA																	0					0						c.(343-345)TCC>TCT		fibrinogen-like 1 precursor		G	,,,	0,4406		0,0,2203	138.0	134.0	135.0		345,345,345,345	-4.7	1.0	8		135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FGL1	NM_004467.3,NM_147203.2,NM_201552.1,NM_201553.1	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	115/313,115/313,115/313,115/313	17731930	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2267				signal transduction	fibrinogen complex	receptor binding	g.chr8:17731930G>A	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.345C>T	8.37:g.17731930G>A						FGL1_uc003wxy.2_Silent_p.S115S|FGL1_uc003wxz.2_Silent_p.S115S|FGL1_uc003wya.2_Silent_p.S115S|FGL1_uc003wyb.2_Silent_p.S115S|FGL1_uc003wyc.2_Silent_p.S115S|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Silent_p.S165S|FGL1_uc003wyf.2_Silent_p.S85S	p.S115S	NM_201553	NP_963847	Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	5	669	-			115			Fibrinogen C-terminal.		A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Silent	SNP	ENST00000398056.2	37	c.345C>T	CCDS6004.1																																																																																				0.383	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467		29	44	0	0	0	0	29	44				
NKX3-1	4824	broad.mit.edu	37	8	23538827	23538827	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:23538827G>C	ENST00000380871.4	-	2	649	c.612C>G	c.(610-612)gcC>gcG	p.A204A	NKX3-1_ENST00000523261.1_Silent_p.A129A	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	204					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CCCGGGAGAAGGCCTCCTCTT	0.562																																						uc011kzx.1		NA																	0					0						c.(610-612)GCC>GCG		NK3 homeobox 1							76.0	79.0	78.0					8																	23538827		2203	4300	6503	SO:0001819	synonymous_variant	4824				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	g.chr8:23538827G>C		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"""Homeoboxes / ANTP class : NKL subclass"""	7838	protein-coding gene	gene with protein product		602041	"""NK homeobox (Drosophila), family 3, A"", ""NK3 transcription factor related, locus 1 (Drosophila)"""	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.612C>G	8.37:g.23538827G>C						NKX3-1_uc003xdv.1_Intron	p.A204A	NM_006167	NP_006158	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	2	660	-		Prostate(55;0.114)	204					O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Silent	SNP	ENST00000380871.4	37	c.612C>G	CCDS6042.1																																																																																				0.562	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			4	44	0	0	0	0	4	44				
GPR124	25960	broad.mit.edu	37	8	37687368	37687368	+	Splice_Site	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:37687368G>T	ENST00000412232.2	+	6	567		c.e6-1		GPR124_ENST00000315215.7_Splice_Site	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						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)			CCACCCTGCAGGGACTTGGGC	0.667																																						uc003xkj.2		NA																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.e6-1		G protein-coupled receptor 124 precursor							43.0	45.0	44.0					8																	37687368		2203	4300	6503	SO:0001630	splice_region_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.chr8:37687368G>T	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.555-1G>T	8.37:g.37687368G>T						GPR124_uc010lvy.2_Splice_Site_p.V185_splice	p.V185_splice	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	918	+								A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Splice_Site	SNP	ENST00000412232.2	37	c.555_splice	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159646	0.78226	.	.	ENSG00000020181	ENST00000428068;ENST00000416514;ENST00000315215;ENST00000412232	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7518	0.91819	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR124	37806526	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	9.679000	0.98649	2.434000	0.82447	0.462000	0.41574	.		0.667	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2		Intron	11	39	1	0	5.51e-06	5.85e-06	11	39				
SNAI2	6591	broad.mit.edu	37	8	49832516	49832516	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:49832516C>G	ENST00000396822.1	-	3	921	c.564G>C	c.(562-564)aaG>aaC	p.K188N	SNAI2_ENST00000020945.1_Missense_Mutation_p.K188N			O43623	SNAI2_HUMAN	snail family zinc finger 2	188					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TGCCGCAGATCTTGCAAACAC	0.458																																						uc003xqp.2		NA																	0				ovary(2)	2						c.(562-564)AAG>AAC		snail 2							110.0	114.0	113.0					8																	49832516		2203	4300	6503	SO:0001583	missense	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49832516C>G	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.564G>C	8.37:g.49832516C>G	ENSP00000380034:p.Lys188Asn						p.K188N	NM_003068	NP_003059	O43623	SNAI2_HUMAN			2	728	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	188			C2H2-type 3.		B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	c.564G>C	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695785	0.30052	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.07908	3.15;3.15	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.05273	0.0140	N	0.14661	0.345	0.80722	D	1	B	0.31968	0.349	B	0.30716	0.119	T	0.50808	-0.8784	10	0.15066	T	0.55	-11.4132	12.7336	0.57210	0.0:0.9246:0.0:0.0754	.	188	O43623	SNAI2_HUMAN	N	188	ENSP00000020945:K188N;ENSP00000380034:K188N	ENSP00000020945:K188N	K	-	3	2	SNAI2	49995069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.113000	0.41902	2.585000	0.87301	0.655000	0.94253	AAG		0.458	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		9	72	0	0	0	0	9	72				
SGK3	23678	broad.mit.edu	37	8	67759505	67759505	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:67759505G>C	ENST00000396596.1	+	15	1366	c.1152G>C	c.(1150-1152)gtG>gtC	p.V384V	C8orf44-SGK3_ENST00000519289.1_Silent_p.V384V|SGK3_ENST00000345714.4_Silent_p.V384V|SGK3_ENST00000522398.1_Silent_p.V384V|SGK3_ENST00000520976.1_Silent_p.V352V|SGK3_ENST00000521198.2_Silent_p.V384V	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	384	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGCCAGGAGTGAGTCTTACAG	0.408																																						uc003xwr.2		NA																	0				ovary(1)|large_intestine(1)|lung(1)|breast(1)	4						c.(1150-1152)GTG>GTC		serum/glucocorticoid regulated kinase 3 isoform							100.0	97.0	98.0					8																	67759505		2203	4300	6503	SO:0001819	synonymous_variant	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67759505G>C		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.1152G>C	8.37:g.67759505G>C						SGK3_uc003xwp.2_Silent_p.V378V|SGK3_uc003xwt.2_Silent_p.V384V|SGK3_uc003xwu.2_Silent_p.V352V	p.V384V	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		15	1451	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	384			Protein kinase.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Silent	SNP	ENST00000396596.1	37	c.1152G>C	CCDS6195.1																																																																																				0.408	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			46	56	0	0	0	0	46	56				
PPP1R42	286187	broad.mit.edu	37	8	67926687	67926687	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:67926687G>C	ENST00000324682.5	-	3	414	c.270C>G	c.(268-270)ctC>ctG	p.L90L	PPP1R42_ENST00000522909.1_Silent_p.L90L|PPP1R42_ENST00000517834.1_Intron	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	90					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										TTAATGACCTGAGGTTCTCTA	0.289																																						uc003xxc.2		NA																	0					0						c.(268-270)CTC>CTG		leucine rich repeat containing 67							86.0	95.0	92.0					8																	67926687		2203	4292	6495	SO:0001819	synonymous_variant	286187							g.chr8:67926687G>C	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.270C>G	8.37:g.67926687G>C							p.L90L	NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN			3	415	-			90			LRR 3.			Silent	SNP	ENST00000324682.5	37	c.270C>G	CCDS34902.1																																																																																				0.289	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		12	68	0	0	0	0	12	68				
CSPP1	79848	broad.mit.edu	37	8	68005835	68005835	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:68005835G>C	ENST00000262210.5	+	5	500	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	192					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GGGTAAGGAAGAATCCAGTGA	0.338																																						uc003xxi.2		NA																	0				ovary(3)|breast(2)	5						c.(574-576)GAA>CAA		centrosome spindle pole associated protein 1							158.0	154.0	155.0					8																	68005835		1815	4084	5899	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68005835G>C	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.469G>C	8.37:g.68005835G>C	ENSP00000262210:p.Glu157Gln					CSPP1_uc003xxg.1_Missense_Mutation_p.E184Q|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.E157Q|CSPP1_uc003xxk.2_5'UTR	p.E192Q	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		7	605	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	192					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.574G>C	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551883	0.45487	.	.	ENSG00000104218	ENST00000521919;ENST00000262210;ENST00000389042	T	0.36340	1.26	5.14	4.26	0.50523	.	0.281334	0.16864	U	0.196416	T	0.36717	0.0977	L	0.51422	1.61	0.80722	D	1	B;B;B	0.13145	0.007;0.001;0.001	B;B;B	0.17722	0.019;0.007;0.007	T	0.15378	-1.0439	10	0.46703	T	0.11	-16.726	16.0752	0.80965	0.0:0.1344:0.8656:0.0	.	157;192;192	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	Q	148;157;192	ENSP00000262210:E157Q	ENSP00000262210:E157Q	E	+	1	0	CSPP1	68168389	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.649000	0.61433	1.279000	0.44446	-0.156000	0.13503	GAA		0.338	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		31	40	0	0	0	0	31	40				
C8orf34	116328	broad.mit.edu	37	8	69633646	69633646	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:69633646G>C	ENST00000539993.1	+	10	1669	c.1120G>C	c.(1120-1122)Gag>Cag	p.E374Q	C8orf34_ENST00000518698.1_Missense_Mutation_p.E460Q|C8orf34_ENST00000325233.3_Missense_Mutation_p.E118Q|C8orf34_ENST00000337103.4_Missense_Mutation_p.E349Q			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	374										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGACGAATTTGAGAAAGCATC	0.274																																						uc010lyz.2		NA																	0				large_intestine(1)	1						c.(1120-1122)GAG>CAG		hypothetical protein LOC116328							102.0	111.0	108.0					8																	69633646		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69633646G>C	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1120G>C	8.37:g.69633646G>C	ENSP00000438159:p.Glu374Gln					C8orf34_uc003xyb.2_Missense_Mutation_p.E349Q	p.E374Q	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		10	1169	+			374					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.1120G>C		.	.	.	.	.	.	.	.	.	.	G	9.553	1.116430	0.20795	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.49139	0.79;0.84;0.84;0.79	5.55	4.65	0.58169	.	0.956631	0.08738	N	0.901019	T	0.30135	0.0755	N	0.08118	0	0.23845	N	0.996683	B	0.06786	0.001	B	0.11329	0.006	T	0.16129	-1.0413	9	.	.	.	-2.4706	12.603	0.56506	0.0:0.1669:0.8331:0.0	.	374	Q49A92	CH034_HUMAN	Q	460;374;349;118	ENSP00000427820:E460Q;ENSP00000438159:E374Q;ENSP00000337174:E349Q;ENSP00000319532:E118Q	.	E	+	1	0	C8orf34	69796200	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	3.697000	0.54764	1.454000	0.47793	0.585000	0.79938	GAG		0.274	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		12	20	0	0	0	0	12	20				
ZFHX4	79776	broad.mit.edu	37	8	77766385	77766385	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:77766385G>A	ENST00000521891.2	+	10	7676	c.7228G>A	c.(7228-7230)Gca>Aca	p.A2410T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2384T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2365T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2365T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2365	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A2394T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAATATCCCGCAGAAAAGCC	0.567										HNSCC(33;0.089)																												uc003yav.2		NA																	1	Substitution - Missense(1)	p.A2394T(1)	large_intestine(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7093-7095)GCA>ACA		zinc finger homeodomain 4							32.0	47.0	42.0					8																	77766385		1967	4152	6119	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766385G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7228G>A	8.37:g.77766385G>A	ENSP00000430497:p.Ala2410Thr	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.A2410T|ZFHX4_uc003yaw.1_Missense_Mutation_p.A2365T	p.A2365T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7480	+			2365			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7093G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	9.645	1.139945	0.21205	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49139	0.79;0.84;0.81;0.8	5.23	-4.15	0.03881	.	1.100940	0.07205	N	0.858126	T	0.12902	0.0313	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.16512	-1.0400	10	0.17832	T	0.49	.	0.8251	0.01119	0.2676:0.3225:0.2036:0.2063	.	2365;2365;2410	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	T	2410;2394;2365;2365;2384	ENSP00000430497:A2410T;ENSP00000399605:A2365T;ENSP00000050961:A2365T;ENSP00000430848:A2384T	ENSP00000050961:A2365T	A	+	1	0	ZFHX4	77928940	0.000000	0.05858	0.844000	0.33320	0.897000	0.52465	0.051000	0.14141	-0.387000	0.07809	-1.300000	0.01332	GCA		0.567	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		3	12	0	0	0	0	3	12				
PAG1	55824	broad.mit.edu	37	8	81899695	81899695	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:81899695C>G	ENST00000220597.4	-	6	894	c.184G>C	c.(184-186)Gac>Cac	p.D62H		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	62					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			ATCTCCTTGTCTGAAGGCTGa	0.448																																						uc003ybz.2		NA																	0					0						c.(184-186)GAC>CAC		phosphoprotein associated with glycosphingolipid							104.0	93.0	97.0					8																	81899695		2203	4300	6503	SO:0001583	missense	55824				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81899695C>G	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.184G>C	8.37:g.81899695C>G	ENSP00000220597:p.Asp62His						p.D62H	NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		6	895	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		62			Cytoplasmic (Potential).		A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	37	c.184G>C	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388564	0.82902	.	.	ENSG00000076641	ENST00000220597	.	.	.	5.69	5.69	0.88448	.	0.149515	0.56097	D	0.000021	T	0.78578	0.4305	M	0.62723	1.935	0.54753	D	0.999983	D	0.89917	1.0	D	0.77557	0.99	T	0.79517	-0.1771	9	0.87932	D	0	-34.1554	19.8131	0.96556	0.0:1.0:0.0:0.0	.	62	Q9NWQ8	PAG1_HUMAN	H	62	.	ENSP00000220597:D62H	D	-	1	0	PAG1	82062250	0.999000	0.42202	0.987000	0.45799	0.998000	0.95712	5.308000	0.65768	2.666000	0.90696	0.650000	0.86243	GAC		0.448	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		7	66	0	0	0	0	7	66				
RBM12B	389677	broad.mit.edu	37	8	94746486	94746486	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:94746486G>A	ENST00000399300.2	-	3	2366	c.2153C>T	c.(2152-2154)tCa>tTa	p.S718L	RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	718							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTCCTGGGGTGACTGCCTGAA	0.627																																						uc003yfz.2		NA																	0					0						c.(2152-2154)TCA>TTA		RNA binding motif protein 12B							98.0	103.0	101.0					8																	94746486		1885	4101	5986	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94746486G>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2153C>T	8.37:g.94746486G>A	ENSP00000382239:p.Ser718Leu						p.S718L	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2346	-	Breast(36;4.14e-07)		718					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.2153C>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589868	0.86851	.	.	ENSG00000183808	ENST00000399300	T	0.08102	3.13	4.29	3.42	0.39159	.	.	.	.	.	T	0.04182	0.0116	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41106	-0.9527	9	0.15499	T	0.54	.	10.5317	0.44981	0.0958:0.0:0.9042:0.0	.	718	Q8IXT5	RB12B_HUMAN	L	718	ENSP00000382239:S718L	ENSP00000382239:S718L	S	-	2	0	RBM12B	94815662	0.000000	0.05858	0.170000	0.22879	0.715000	0.41141	0.493000	0.22451	1.410000	0.46936	-0.253000	0.11424	TCA		0.627	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		7	162	0	0	0	0	7	162				
PTDSS1	9791	broad.mit.edu	37	8	97299316	97299316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:97299316C>T	ENST00000517309.1	+	4	709	c.383C>T	c.(382-384)tCt>tTt	p.S128F	PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	128					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CAGGTTAAATCTCTAATGTAT	0.433																																						uc003yht.1		NA																	0				ovary(1)	1						c.(382-384)TCT>TTT		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						268.0	247.0	254.0					8																	97299316		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97299316C>T	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.383C>T	8.37:g.97299316C>T	ENSP00000430548:p.Ser128Phe					PTDSS1_uc003yhu.1_Intron	p.S128F	NM_014754	NP_055569	P48651	PTSS1_HUMAN			4	485	+	Breast(36;6.18e-05)		128					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.383C>T	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372129	0.82573	.	.	ENSG00000156471	ENST00000517309	T	0.45276	0.9	5.79	5.79	0.91817	.	0.180866	0.47852	D	0.000201	T	0.42200	0.1192	L	0.28115	0.83	0.80722	D	1	B	0.33904	0.431	B	0.42495	0.389	T	0.33979	-0.9847	10	0.54805	T	0.06	-30.262	18.1887	0.89800	0.0:1.0:0.0:0.0	.	128	P48651	PTSS1_HUMAN	F	128	ENSP00000430548:S128F	ENSP00000430548:S128F	S	+	2	0	PTDSS1	97368492	0.998000	0.40836	0.924000	0.36721	0.928000	0.56348	3.878000	0.56130	2.726000	0.93360	0.650000	0.86243	TCT		0.433	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			31	185	0	0	0	0	31	185				
VPS13B	157680	broad.mit.edu	37	8	100779029	100779029	+	Missense_Mutation	SNP	G	G	A	rs180177368		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:100779029G>A	ENST00000358544.2	+	40	7264	c.7153G>A	c.(7153-7155)Gaa>Aaa	p.E2385K	VPS13B_ENST00000357162.2_Missense_Mutation_p.E2360K|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2385					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATACTGGGATGAACTCCAGAA	0.318																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	GRCh37	CM062028	VPS13B	M		c.(7153-7155)GAA>AAA		vacuolar protein sorting 13B isoform 5							52.0	53.0	53.0					8																	100779029		2202	4300	6502	SO:0001583	missense	157680				protein transport			g.chr8:100779029G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7153G>A	8.37:g.100779029G>A	ENSP00000351346:p.Glu2385Lys					VPS13B_uc003yiw.2_Missense_Mutation_p.E2360K	p.E2385K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		40	7264	+	Breast(36;3.73e-07)		2385					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.7153G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	36	5.636865	0.96693	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72167	-0.62;-0.63	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.83110	0.5183	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.83029	-0.0163	10	0.72032	D	0.01	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	2360;2385	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	K	2360;2385	ENSP00000349685:E2360K;ENSP00000351346:E2385K	ENSP00000349685:E2360K	E	+	1	0	VPS13B	100848205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.827000	0.97445	0.650000	0.86243	GAA		0.318	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		14	36	0	0	0	0	14	36				
FZD6	8323	broad.mit.edu	37	8	104337587	104337587	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:104337587G>C	ENST00000358755.4	+	4	1570	c.1253G>C	c.(1252-1254)gGa>gCa	p.G418A	FZD6_ENST00000523739.1_Missense_Mutation_p.G386A|FZD6_ENST00000522566.1_Missense_Mutation_p.G418A|FZD6_ENST00000540287.1_Missense_Mutation_p.G113A	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	418					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			ATTCGAATTGGAGTCTTCAGC	0.403																																						uc003ylh.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1252-1254)GGA>GCA		frizzled 6 isoform a precursor							138.0	128.0	132.0					8																	104337587		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104337587G>C	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1253G>C	8.37:g.104337587G>C	ENSP00000351605:p.Gly418Ala					FZD6_uc003yli.2_Missense_Mutation_p.G418A|FZD6_uc003ylj.2_Missense_Mutation_p.G418A|FZD6_uc011lhn.1_Missense_Mutation_p.G384A|FZD6_uc011lho.1_Missense_Mutation_p.G113A|FZD6_uc011lhp.1_Missense_Mutation_p.G363A	p.G418A	NM_003506	NP_003497	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		4	1537	+			418			Helical; Name=6; (Potential).		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.1253G>C	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102621	0.76983	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	6.03	5.16	0.70880	GPCR, family 2-like (1);	0.048754	0.85682	D	0.000000	D	0.96555	0.8876	M	0.88377	2.95	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.998	D;D;D;D	0.97110	0.979;0.999;1.0;0.979	D	0.97192	0.9858	10	0.72032	D	0.01	.	15.4324	0.75112	0.0664:0.0:0.9336:0.0	.	363;113;418;418	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	A	418;418;386;113;363	ENSP00000429055:G418A;ENSP00000351605:G418A;ENSP00000429528:G386A;ENSP00000443757:G113A	ENSP00000351605:G418A	G	+	2	0	FZD6	104406763	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	1.567000	0.49668	0.557000	0.71058	GGA		0.403	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		26	157	0	0	0	0	26	157				
TAF2	6873	broad.mit.edu	37	8	120809951	120809951	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:120809951C>T	ENST00000378164.2	-	7	1226	c.928G>A	c.(928-930)Gat>Aat	p.D310N		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	310					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TAAGCCTCATCAATGAAGACA	0.353																																						uc003you.2		NA																	0				large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(928-930)GAT>AAT		TBP-associated factor 2							109.0	103.0	105.0					8																	120809951		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120809951C>T	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.928G>A	8.37:g.120809951C>T	ENSP00000367406:p.Asp310Asn						p.D310N	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		7	1198	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		310					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.928G>A	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545345	0.96488	.	.	ENSG00000064313	ENST00000378164	T	0.41065	1.01	6.07	6.07	0.98685	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66982	0.2845	M	0.84156	2.68	0.80722	D	1	D	0.60575	0.988	P	0.59761	0.863	T	0.67956	-0.5536	10	0.56958	D	0.05	-23.9094	20.6593	0.99626	0.0:1.0:0.0:0.0	.	310	Q6P1X5	TAF2_HUMAN	N	310	ENSP00000367406:D310N	ENSP00000367406:D310N	D	-	1	0	TAF2	120879132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.055000	0.71103	2.885000	0.99019	0.655000	0.94253	GAT		0.353	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		6	75	0	0	0	0	6	75				
SNTB1	6641	broad.mit.edu	37	8	121823703	121823703	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:121823703G>C	ENST00000395601.3	-	2	795	c.381C>G	c.(379-381)atC>atG	p.I127M	SNTB1_ENST00000517992.1_Missense_Mutation_p.I127M|RP11-713M15.2_ENST00000605955.1_RNA|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	127	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGCCCCCCTTGATGCTGATCC	0.632																																						uc010mdg.2		NA																	0				skin(5)	5						c.(379-381)ATC>ATG		basic beta 1 syntrophin							54.0	54.0	54.0					8																	121823703		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121823703G>C	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.381C>G	8.37:g.121823703G>C	ENSP00000378965:p.Ile127Met					SNTB1_uc003ype.2_Missense_Mutation_p.I127M	p.I127M	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		1	607	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		127			PH 1.|PDZ.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.381C>G	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553968	0.65425	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.62498	0.02;0.02	4.92	4.03	0.46877	PDZ/DHR/GLGF (4);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.83658	0.5302	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	D	0.87515	0.2442	10	0.87932	D	0	.	13.1394	0.59426	0.0803:0.0:0.9197:0.0	.	127;127	Q13884;Q13884-2	SNTB1_HUMAN;.	M	127	ENSP00000378965:I127M;ENSP00000431124:I127M	ENSP00000378965:I127M	I	-	3	3	SNTB1	121892884	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.937000	0.40193	1.017000	0.39495	0.561000	0.74099	ATC		0.632	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		10	20	0	0	0	0	10	20				
MROH5	389690	broad.mit.edu	37	8	142477621	142477621	+	RNA	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr8:142477621C>G	ENST00000430863.1	-	0	2280					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		TCGCTCAACTCTGCCAGTGTG	0.667																																						uc003ywi.2		NA																	0					0						c.(2200-2202)GAG>CAG		hypothetical protein LOC389690							66.0	75.0	72.0					8																	142477621		2102	4231	6333			389690						binding	g.chr8:142477621C>G			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142477621C>G						FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	p.E734Q	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		18	2281	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		734						Missense_Mutation	SNP	ENST00000430863.1	37	c.2200G>C																																																																																					0.667	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		10	41	0	0	0	0	10	41				
FOXD4	2298	broad.mit.edu	37	9	117889	117889	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:117889G>A	ENST00000382500.2	-	1	528	c.231C>T	c.(229-231)agC>agT	p.S77S		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	77					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGAGGGGTCGCTCGGGCCGC	0.706																																						uc003zfz.2		NA																	0				skin(1)	1						c.(229-231)AGC>AGT		forkhead box D4							38.0	63.0	55.0					9																	117889		2192	4290	6482	SO:0001819	synonymous_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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.chr9:117889G>A	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.231C>T	9.37:g.117889G>A							p.S77S	NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	529	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	77					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	c.231C>T	CCDS34975.1																																																																																				0.706	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		26	105	0	0	0	0	26	105				
SLC24A2	25769	broad.mit.edu	37	9	19619622	19619622	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:19619622G>C	ENST00000341998.2	-	3	1099	c.1038C>G	c.(1036-1038)atC>atG	p.I346M	SLC24A2_ENST00000286344.3_Missense_Mutation_p.I346M	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	346					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TGAGTTGGAAGATGCTATTCC	0.507																																						uc003zoa.1		NA																	0				ovary(3)	3						c.(1036-1038)ATC>ATG		solute carrier family 24							239.0	212.0	221.0					9																	19619622		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19619622G>C	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1038C>G	9.37:g.19619622G>C	ENSP00000344801:p.Ile346Met					SLC24A2_uc003zob.1_Missense_Mutation_p.I346M	p.I346M	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	3	1100	-			346			Cytoplasmic (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.1038C>G	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248053	0.59103	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.79845	-1.31;-1.21	5.8	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.88123	0.6352	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75020	0.981;0.985	D	0.88099	0.2818	9	.	.	.	.	9.0117	0.36146	0.2223:0.0:0.7777:0.0	.	346;346	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	M	346	ENSP00000344801:I346M;ENSP00000286344:I346M	.	I	-	3	3	SLC24A2	19609622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.511000	0.35801	1.459000	0.47892	0.650000	0.86243	ATC		0.507	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		16	105	0	0	0	0	16	105				
IFNA8	3445	broad.mit.edu	37	9	21409280	21409280	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:21409280G>A	ENST00000380205.1	+	1	135	c.105G>A	c.(103-105)agG>agA	p.R35R		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	35					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)|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)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		TGGGTAACAGGAGGGCCTTGA	0.498																																						uc003zpc.1		NA																	0					0						c.(103-105)AGG>AGA		interferon, alpha 8 precursor							128.0	124.0	125.0					9																	21409280		2203	4300	6503	SO:0001819	synonymous_variant	3445				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21409280G>A		CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.105G>A	9.37:g.21409280G>A							p.R35R	NM_002170	NP_002161	P32881	IFNA8_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)	1	135	+			35					P01565|P09236|Q5VWV7|Q5VYQ3	Silent	SNP	ENST00000380205.1	37	c.105G>A	CCDS6507.1																																																																																				0.498	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170		30	85	0	0	0	0	30	85				
DNAJA1	3301	broad.mit.edu	37	9	33038791	33038791	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:33038791G>A	ENST00000330899.4	+	9	1267	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	DNAJA1_ENST00000544625.1_Missense_Mutation_p.E205K	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	362					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		GGACCAAGTAGAACTGGTGGA	0.468																																						uc003zsd.1		NA																	0					0						c.(1084-1086)GAA>AAA		DnaJ (Hsp40) homolog, subfamily A, member 1							117.0	105.0	109.0					9																	33038791		2203	4300	6503	SO:0001583	missense	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33038791G>A	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.1084G>A	9.37:g.33038791G>A	ENSP00000369127:p.Glu362Lys					DNAJA1_uc011lnt.1_Missense_Mutation_p.E205K	p.E362K	NM_001539	NP_001530	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	9	1267	+			362					Q5T7Q0|Q86TL9	Missense_Mutation	SNP	ENST00000330899.4	37	c.1084G>A	CCDS6533.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940257	0.52972	.	.	ENSG00000086061	ENST00000330899;ENST00000539152;ENST00000544625	T;T	0.61040	0.14;1.46	4.87	4.87	0.63330	.	0.303860	0.39544	N	0.001339	T	0.62792	0.2457	M	0.83384	2.64	0.52501	D	0.999951	B	0.20671	0.047	B	0.27715	0.082	T	0.61525	-0.7045	10	0.27785	T	0.31	-26.3741	15.8625	0.79035	0.0:0.0:1.0:0.0	.	362	P31689	DNJA1_HUMAN	K	362;205;205	ENSP00000369127:E362K;ENSP00000439010:E205K	ENSP00000369127:E362K	E	+	1	0	DNAJA1	33028791	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	6.273000	0.72581	2.422000	0.82143	0.557000	0.71058	GAA		0.468	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1			9	46	0	0	0	0	9	46				
CCDC107	203260	broad.mit.edu	37	9	35660981	35660981	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:35660981G>A	ENST00000426546.2	+	5	715	c.649G>A	c.(649-651)Gag>Aag	p.E217K	ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000327351.2_3'UTR|ARHGEF39_ENST00000490970.1_5'Flank|CCDC107_ENST00000378407.3_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.E190K|ARHGEF39_ENST00000378387.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378406.1_3'UTR|RMRP_ENST00000602361.1_lincRNA	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	217						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AAAGGAGGACGAGGAGGAGAT	0.557																																						uc011lox.1		NA																	0					0						c.(649-651)GAG>AAG		coiled-coil domain containing 107 precursor							88.0	88.0	88.0					9																	35660981		2203	4300	6503	SO:0001583	missense	203260					integral to membrane		g.chr9:35660981G>A	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.649G>A	9.37:g.35660981G>A	ENSP00000414964:p.Glu217Lys					RMRP_uc003zxh.1_5'Flank|CCDC107_uc011loy.1_Missense_Mutation_p.E190K|CCDC107_uc003zxj.2_3'UTR|CCDC107_uc003zxk.2_3'UTR|C9orf100_uc003zxl.2_Intron|C9orf100_uc003zxm.1_3'UTR	p.E217K	NM_174923	NP_777583	Q8WV48	CC107_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	715	+	all_epithelial(49;0.217)		217					A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Missense_Mutation	SNP	ENST00000426546.2	37	c.649G>A	CCDS6583.1	.	.	.	.	.	.	.	.	.	.	G	9.232	1.036012	0.19590	.	.	ENSG00000159884	ENST00000426546;ENST00000378409	T;T	0.34667	1.75;1.35	4.78	2.87	0.33458	.	1.718340	0.03111	N	0.162526	T	0.30008	0.0751	L	0.38175	1.15	0.22280	N	0.999236	P;P	0.46706	0.883;0.883	B;B	0.34038	0.174;0.174	T	0.41963	-0.9479	10	0.56958	D	0.05	-8.995	11.0328	0.47783	0.0:0.4286:0.5714:0.0	.	190;217	F8W8S5;Q8WV48	.;CC107_HUMAN	K	217;190	ENSP00000414964:E217K;ENSP00000367665:E190K	ENSP00000367665:E190K	E	+	1	0	CCDC107	35650981	0.001000	0.12720	0.005000	0.12908	0.101000	0.19017	0.399000	0.20916	0.582000	0.29556	0.655000	0.94253	GAG		0.557	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		19	91	0	0	0	0	19	91				
POLR1E	64425	broad.mit.edu	37	9	37486584	37486584	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:37486584C>T	ENST00000377792.3	+	1	435	c.147C>T	c.(145-147)ttC>ttT	p.F49F	POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron			O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		ACCCGAGCTTCCTTGCCATCC	0.582																																					Ovarian(116;843 1620 18506 32459 34463)	uc003zzz.1		NA																	0					0						c.(145-147)TTC>TTT		RNA polymerase I associated factor 53																																				SO:0001819	synonymous_variant	64425				rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr9:37486584C>T	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377792.3:c.147C>T	9.37:g.37486584C>T						POLR1E_uc011lqj.1_Intron|POLR1E_uc003zzy.1_Intron|POLR1E_uc011lqk.1_Intron	p.F49F	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN		GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)	1	435	+			49					O75395|Q5JTE3	Silent	SNP	ENST00000377792.3	37	c.147C>T																																																																																					0.582	POLR1E-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052465.1	NM_022490		9	11	0	0	0	0	9	11				
FOXD4L5	653427	broad.mit.edu	37	9	70177786	70177786	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:70177786C>G	ENST00000377420.1	-	1	1029	c.198G>C	c.(196-198)ggG>ggC	p.G66G		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	66					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						GAAGCGCAACCCCGCCCCACC	0.672																																						uc010moc.2		NA																	0					0						c.(196-198)GGG>GGC		forkhead box D4-like 5							15.0	44.0	35.0					9																	70177786		330	697	1027	SO:0001819	synonymous_variant	653427				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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.chr9:70177786C>G		CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.198G>C	9.37:g.70177786C>G							p.G66G	NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN			1	1030	-			66						Silent	SNP	ENST00000377420.1	37	c.198G>C	CCDS47977.1																																																																																				0.672	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037122.1	NM_001126334		7	85	0	0	0	0	7	85				
TMEM252	169693	broad.mit.edu	37	9	71152191	71152191	+	Missense_Mutation	SNP	C	C	T	rs375725598		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:71152191C>T	ENST00000377311.3	-	2	549	c.497G>A	c.(496-498)cGa>cAa	p.R166Q		NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	166						integral component of membrane (GO:0016021)											CTCTTGGCCTCGCCTCTGGGC	0.562																																						uc004agt.2		NA																	0					0						c.(496-498)CGA>CAA		hypothetical protein LOC169693		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	48.0	43.0	45.0		497	-3.8	0.0	9		45	0,8600		0,0,4300	no	missense	C9orf71	NM_153237.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	166/171	71152191	1,13005	2203	4300	6503	SO:0001583	missense	169693					integral to membrane		g.chr9:71152191C>T	BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.497G>A	9.37:g.71152191C>T	ENSP00000366528:p.Arg166Gln					uc004ags.1_RNA	p.R166Q	NM_153237	NP_694969	Q8N6L7	CI071_HUMAN			2	550	-			166						Missense_Mutation	SNP	ENST00000377311.3	37	c.497G>A	CCDS35040.1	.	.	.	.	.	.	.	.	.	.	C	2.877	-0.232579	0.05983	2.27E-4	0.0	ENSG00000181778	ENST00000377311	.	.	.	5.96	-3.81	0.04294	.	1.159720	0.06378	N	0.714681	T	0.14056	0.0340	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32428	-0.9907	9	0.16420	T	0.52	2.3443	10.9014	0.47054	0.0:0.3449:0.5047:0.1505	.	166	Q8N6L7	CI071_HUMAN	Q	166	.	ENSP00000366528:R166Q	R	-	2	0	C9orf71	70342011	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.093000	0.15086	-0.548000	0.06199	-1.004000	0.02495	CGA		0.562	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052551.1	NM_153237		4	41	0	0	0	0	4	41				
TRPM6	140803	broad.mit.edu	37	9	77354741	77354741	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:77354741G>A	ENST00000360774.1	-	34	5622	c.5385C>T	c.(5383-5385)ctC>ctT	p.L1795L	TRPM6_ENST00000451710.3_Silent_p.L1799L|TRPM6_ENST00000361255.3_Silent_p.L1790L|TRPM6_ENST00000449912.2_Silent_p.L1790L|TRPM6_ENST00000376871.3_Silent_p.L632L|TRPM6_ENST00000376864.4_Silent_p.L1799L|TRPM6_ENST00000376872.3_Silent_p.L750L	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1795	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTCCCGGCTTGAGAATGTCAT	0.507																																						uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(5383-5385)CTC>CTT		transient receptor potential cation channel,							121.0	112.0	115.0					9																	77354741		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354741G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5385C>T	9.37:g.77354741G>A						TRPM6_uc004ajk.1_Silent_p.L1790L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Silent_p.L746L|TRPM6_uc010mpd.1_Silent_p.L628L|TRPM6_uc010mpe.1_Silent_p.L342L|TRPM6_uc004ajj.1_Silent_p.L751L	p.L1795L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			34	5623	-			1795			Alpha-type protein kinase.|Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.5385C>T	CCDS6647.1																																																																																				0.507	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		53	71	0	0	0	0	53	71				
COL15A1	1306	broad.mit.edu	37	9	101765755	101765755	+	Silent	SNP	G	G	C	rs142437738		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:101765755G>C	ENST00000375001.3	+	8	1509	c.1086G>C	c.(1084-1086)gcG>gcC	p.A362A		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	362	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAACAGCAGCGGGGCTGGCCG	0.582																																						uc004azb.1		NA																	0				ovary(6)	6						c.(1084-1086)GCG>GCC		alpha 1 type XV collagen precursor							77.0	82.0	81.0					9																	101765755		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101765755G>C	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1086G>C	9.37:g.101765755G>C							p.A362A	NM_001855	NP_001846	P39059	COFA1_HUMAN			8	1292	+		Acute lymphoblastic leukemia(62;0.0562)	362			Nonhelical region 1 (NC1).|1.|4 X tandem repeats.		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.1086G>C	CCDS35081.1																																																																																				0.582	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		16	76	0	0	0	0	16	76				
ERP44	23071	broad.mit.edu	37	9	102769866	102769866	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:102769866C>T	ENST00000262455.6	-	9	1067	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	290					cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						CTACCTTTTTCACTTATTAAT	0.338																																						uc004bam.2		NA																	0					0						c.(868-870)GAA>AAA		thioredoxin domain containing 4 (endoplasmic							113.0	115.0	114.0					9																	102769866		2201	4299	6500	SO:0001583	missense	23071				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity	g.chr9:102769866C>T	AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"""Protein disulfide isomerases"""	18311	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 10"""	609170	"""thioredoxin domain containing 4 (endoplasmic reticulum)"""	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.868G>A	9.37:g.102769866C>T	ENSP00000262455:p.Glu290Lys					ERP44_uc010msy.2_RNA|ERP44_uc010msz.2_Missense_Mutation_p.E290K	p.E290K	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN			9	1076	-			290					O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Missense_Mutation	SNP	ENST00000262455.6	37	c.868G>A	CCDS35082.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325354	0.81580	.	.	ENSG00000023318	ENST00000262455	T	0.31510	1.49	5.76	5.76	0.90799	Thioredoxin-like fold (1);	0.042389	0.85682	N	0.000000	T	0.37293	0.0998	L	0.60067	1.865	0.80722	D	1	B	0.24092	0.097	B	0.30105	0.111	T	0.07597	-1.0764	10	0.29301	T	0.29	0.1507	20.335	0.98737	0.0:1.0:0.0:0.0	.	290	Q9BS26	ERP44_HUMAN	K	290	ENSP00000262455:E290K	ENSP00000262455:E290K	E	-	1	0	ERP44	101809687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.134000	0.77268	2.878000	0.98634	0.650000	0.86243	GAA		0.338	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1	XM_088476		12	42	0	0	0	0	12	42				
KIAA0368	23392	broad.mit.edu	37	9	114134893	114134893	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:114134893G>A	ENST00000338205.5	-	41	4563	c.4344C>T	c.(4342-4344)atC>atT	p.I1448I	KIAA0368_ENST00000259335.4_Silent_p.I1626I|KIAA0368_ENST00000465499.1_5'Flank|KIAA0368_ENST00000374378.3_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	1454					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AGGTCTTGTAGATAGGTTCTG	0.348																																						uc004bfe.1		NA																	0					0						c.(4876-4878)ATC>ATT		KIAA0368 protein							57.0	52.0	54.0					9																	114134893		1831	4092	5923	SO:0001819	synonymous_variant	23392							g.chr9:114134893G>A	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4344C>T	9.37:g.114134893G>A							p.I1626I	NM_001080398	NP_001073867					43	4878	-								O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37	c.4878C>T																																																																																					0.348	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		4	22	0	0	0	0	4	22				
ZFP37	7539	broad.mit.edu	37	9	115805660	115805660	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:115805660G>C	ENST00000374227.3	-	4	1265	c.1238C>G	c.(1237-1239)tCt>tGt	p.S413C	ZFP37_ENST00000553380.1_Missense_Mutation_p.S428C|ZFP37_ENST00000555206.1_Missense_Mutation_p.S414C	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ATACCTAAAAGACTTCCCACA	0.393																																						uc004bgm.1		NA																	0				ovary(1)|skin(1)	2						c.(1237-1239)TCT>TGT		zinc finger protein 37 homolog							124.0	121.0	122.0					9																	115805660		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805660G>C	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1238C>G	9.37:g.115805660G>C	ENSP00000363344:p.Ser413Cys					ZFP37_uc011lwz.1_Missense_Mutation_p.S428C|ZFP37_uc011lxa.1_Missense_Mutation_p.S414C	p.S413C	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	1266	-			413			C2H2-type 5.		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1238C>G	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495640	0.44352	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.38722	2.12;2.12;1.12	4.14	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43416	D	0.000563	T	0.32406	0.0828	L	0.35487	1.065	0.26972	N	0.965567	B;B;B	0.23442	0.085;0.085;0.075	B;B;B	0.22880	0.014;0.014;0.042	T	0.35724	-0.9777	10	0.66056	D	0.02	-7.6065	12.3605	0.55201	0.0:0.1712:0.8288:0.0	.	414;428;413	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	C	413;414;428	ENSP00000363344:S413C;ENSP00000451310:S414C;ENSP00000452552:S428C	ENSP00000363344:S413C	S	-	2	0	ZFP37	114845481	0.000000	0.05858	0.981000	0.43875	0.969000	0.65631	0.041000	0.13927	1.295000	0.44724	0.655000	0.94253	TCT		0.393	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		28	86	0	0	0	0	28	86				
TRIM32	22954	broad.mit.edu	37	9	119460354	119460354	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:119460354C>T	ENST00000450136.1	+	2	494	c.333C>T	c.(331-333)ttC>ttT	p.F111F	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Silent_p.F111F|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	111					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CCCGGCAATTCTGCCGGAGCT	0.592																																					Esophageal Squamous(92;212 1916 19711 26951)	uc004bjx.2		NA																	0				central_nervous_system(2)|kidney(1)	3						c.(331-333)TTC>TTT		tripartite motif-containing 32							57.0	63.0	61.0					9																	119460354		2203	4300	6503	SO:0001819	synonymous_variant	22954	Bardet-Biedl_syndrome			fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119460354C>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.333C>T	9.37:g.119460354C>T						ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Silent_p.F111F	p.F111F	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN			2	491	+			111			B box-type.		Q9NQP8	Silent	SNP	ENST00000450136.1	37	c.333C>T	CCDS6817.1																																																																																				0.592	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		18	74	0	0	0	0	18	74				
ASTN2	23245	broad.mit.edu	37	9	119976688	119976688	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:119976688G>C	ENST00000313400.4	-	3	1064	c.964C>G	c.(964-966)Ctg>Gtg	p.L322V	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.L322V|ASTN2_ENST00000361209.2_Missense_Mutation_p.L322V			O75129	ASTN2_HUMAN	astrotactin 2	322					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGACTGTCCAGAGTGTGGGTC	0.552																																						uc004bjs.1		NA																	0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(964-966)CTG>GTG		astrotactin 2 isoform c							93.0	94.0	94.0					9																	119976688		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119976688G>C	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.964C>G	9.37:g.119976688G>C	ENSP00000314038:p.Leu322Val					ASTN2_uc004bjr.1_Missense_Mutation_p.L322V|ASTN2_uc004bjt.1_Missense_Mutation_p.L322V	p.L322V	NM_198187	NP_937830	O75129	ASTN2_HUMAN			3	1065	-			322			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.964C>G		.	.	.	.	.	.	.	.	.	.	G	10.05	1.243773	0.22796	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.14144	2.8;2.8;2.63;2.53	5.16	3.32	0.38043	.	0.338184	0.24823	N	0.035313	T	0.12390	0.0301	N	0.24115	0.695	0.34409	D	0.69612	B;P;P	0.44734	0.372;0.819;0.842	B;B;P	0.47645	0.121;0.312;0.553	T	0.23940	-1.0174	9	.	.	.	-12.3813	10.1898	0.43019	0.1334:0.0:0.8666:0.0	.	322;322;322	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	V	322;322;49;322	ENSP00000314038:L322V;ENSP00000363108:L322V;ENSP00000363098:L49V;ENSP00000354504:L322V	.	L	-	1	2	ASTN2	119016509	0.996000	0.38824	0.943000	0.38184	0.254000	0.26022	2.337000	0.43947	0.567000	0.29293	0.655000	0.94253	CTG		0.552	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		16	114	0	0	0	0	16	114				
ANGPTL2	23452	broad.mit.edu	37	9	129851244	129851244	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:129851244G>A	ENST00000373425.3	-	5	2073	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.R184*	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	486	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GGGTTCGGTCGGATCATCATC	0.607																																						uc004bqr.1		NA																	0					0						c.(1456-1458)CGA>TGA		angiopoietin-like 2 precursor							165.0	156.0	159.0					9																	129851244		2203	4300	6503	SO:0001587	stop_gained	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129851244G>A	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1456C>T	9.37:g.129851244G>A	ENSP00000362524:p.Arg486*					RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Nonsense_Mutation_p.R184*	p.R486*	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN			5	1956	-			486			Fibrinogen C-terminal.		Q5JT58|Q8NCH7	Nonsense_Mutation	SNP	ENST00000373425.3	37	c.1456C>T	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	G	42	9.540101	0.99199	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	.	.	.	4.92	3.88	0.44766	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1257	0.42648	0.0:0.0:0.609:0.391	.	.	.	.	X	486;184	.	ENSP00000362516:R184X	R	-	1	2	ANGPTL2	128891065	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.546000	0.60705	2.420000	0.82092	0.609000	0.83330	CGA		0.607	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		23	111	0	0	0	0	23	111				
TTC16	158248	broad.mit.edu	37	9	130486622	130486622	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:130486622G>A	ENST00000373289.3	+	8	1176	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	TTC16_ENST00000393748.4_Missense_Mutation_p.G190R|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	366										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCAGGAGAAAGGACTCTACAT	0.662																																						uc004brq.1		NA																	0					0						c.(1096-1098)GGA>AGA		tetratricopeptide repeat domain 16							34.0	34.0	34.0					9																	130486622		2203	4300	6503	SO:0001583	missense	158248						binding	g.chr9:130486622G>A	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1096G>A	9.37:g.130486622G>A	ENSP00000362386:p.Gly366Arg					PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Missense_Mutation_p.G353R|TTC16_uc004brr.1_Missense_Mutation_p.G311R|TTC16_uc010mxn.1_5'UTR	p.G366R	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN			8	1163	+			366			TPR 7.		B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.1096G>A	CCDS6875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.33|18.33	3.600460|3.600460	0.66332|0.66332	.|.	.|.	ENSG00000167094|ENSG00000167094	ENST00000373289;ENST00000393748|ENST00000373288;ENST00000316259	T|.	0.58652|.	0.32|.	5.48|5.48	4.59|4.59	0.56863|0.56863	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.098145|.	0.44483|.	D|.	0.000448|.	T|T	0.50051|0.50051	0.1593|0.1593	L|L	0.29908|0.29908	0.895|0.895	0.41304|0.41304	D|D	0.987068|0.987068	D;D;D|.	0.89917|.	1.0;0.966;1.0|.	D;P;D|.	0.91635|.	0.999;0.524;0.999|.	T|T	0.40270|0.40270	-0.9572|-0.9572	10|6	0.33940|0.15952	T|T	0.23|0.53	-36.4022|-36.4022	12.7547|12.7547	0.57328|0.57328	0.08:0.0:0.92:0.0|0.08:0.0:0.92:0.0	.|.	353;318;366|.	B4DZ42;B4DH05;Q8NEE8|.	.;.;TTC16_HUMAN|.	R|K	366;190|191;310	ENSP00000362386:G366R|.	ENSP00000362386:G366R|ENSP00000319048:R310K	G|R	+|+	1|2	0|0	TTC16|TTC16	129526443|129526443	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.794000|0.794000	0.44872|0.44872	3.127000|3.127000	0.50484|0.50484	1.321000|1.321000	0.45227|0.45227	0.313000|0.313000	0.20887|0.20887	GGA|AGG		0.662	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		6	23	0	0	0	0	6	23				
FPGS	2356	broad.mit.edu	37	9	130569916	130569916	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:130569916C>T	ENST00000373247.2	+	8	743	c.693C>T	c.(691-693)ctC>ctT	p.L231L	FPGS_ENST00000393706.2_Silent_p.L205L|FPGS_ENST00000373225.3_Silent_p.L181L|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_Silent_p.L231L	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	231					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	ACACCAGCCTCCTGGGGGATA	0.622																																						uc004bsg.1		NA																	0					0						c.(691-693)CTC>CTT		folylpolyglutamate synthase isoform a precursor	L-Glutamic Acid(DB00142)						45.0	45.0	45.0					9																	130569916		2203	4300	6503	SO:0001819	synonymous_variant	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130569916C>T		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.693C>T	9.37:g.130569916C>T						FPGS_uc004bsh.1_Silent_p.L48L|FPGS_uc011mal.1_Silent_p.L205L|FPGS_uc004bsi.1_Silent_p.L181L	p.L231L	NM_004957	NP_004948	Q05932	FOLC_HUMAN			8	743	+			231					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Silent	SNP	ENST00000373247.2	37	c.693C>T	CCDS35148.1																																																																																				0.622	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			4	25	0	0	0	0	4	25				
TRUB2	26995	broad.mit.edu	37	9	131084583	131084583	+	Silent	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:131084583C>G	ENST00000372890.4	-	1	438	c.105G>C	c.(103-105)ctG>ctC	p.L35L	COQ4_ENST00000300452.3_5'Flank|TRUB2_ENST00000546104.1_5'Flank|COQ4_ENST00000609948.1_5'Flank|TRUB2_ENST00000460320.1_5'UTR|COQ4_ENST00000372875.3_5'Flank|COQ4_ENST00000608951.1_5'Flank	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	35					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.L35L(1)		kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						ACTCACCCTTCAGAAGTTGTA	0.562																																						uc004buq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(103-105)CTG>CTC		TruB pseudouridine (psi) synthase homolog 2							97.0	87.0	91.0					9																	131084583		2203	4300	6503	SO:0001819	synonymous_variant	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131084583C>G	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.105G>C	9.37:g.131084583C>G						COQ4_uc011max.1_5'Flank|COQ4_uc004bur.3_5'Flank|COQ4_uc004bus.2_5'Flank|COQ4_uc010mxy.2_5'Flank	p.L35L	NM_015679	NP_056494	O95900	TRUB2_HUMAN			1	115	-			35					B7Z7G5	Silent	SNP	ENST00000372890.4	37	c.105G>C	CCDS6897.1																																																																																				0.562	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		7	62	0	0	0	0	7	62				
TOR1B	27348	broad.mit.edu	37	9	132566591	132566591	+	Missense_Mutation	SNP	C	C	T	rs78770065		TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:132566591C>T	ENST00000259339.2	+	2	499	c.439C>T	c.(439-441)Cat>Tat	p.H147Y	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	147					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GCACTTCCCTCATGAGCAGAA	0.483																																						uc004byk.1		NA																	0					0						c.(439-441)CAT>TAT		torsin family 1, member B (torsin B) precursor							109.0	110.0	110.0					9																	132566591		2203	4300	6503	SO:0001583	missense	27348				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding	g.chr9:132566591C>T	AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.439C>T	9.37:g.132566591C>T	ENSP00000259339:p.His147Tyr						p.H147Y	NM_014506	NP_055321	O14657	TOR1B_HUMAN			2	499	+		Ovarian(14;0.0586)	147						Missense_Mutation	SNP	ENST00000259339.2	37	c.439C>T	CCDS6929.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837205	0.91117	.	.	ENSG00000136816	ENST00000259339;ENST00000437263	T	0.29397	1.57	4.69	4.69	0.59074	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.62356	0.2421	M	0.88640	2.97	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.70543	-0.4843	10	0.59425	D	0.04	-22.8484	16.9749	0.86310	0.0:1.0:0.0:0.0	.	147	O14657	TOR1B_HUMAN	Y	147;116	ENSP00000259339:H147Y	ENSP00000259339:H147Y	H	+	1	0	TOR1B	131606412	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	7.256000	0.78350	2.329000	0.79093	0.561000	0.74099	CAT		0.483	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054615.1	NM_014506		26	82	0	0	0	0	26	82				
OLFM1	10439	broad.mit.edu	37	9	137990304	137990304	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:137990304G>C	ENST00000371793.3	+	4	880	c.629G>C	c.(628-630)aGa>aCa	p.R210T	OLFM1_ENST00000371796.3_Missense_Mutation_p.R183T|OLFM1_ENST00000252854.4_Missense_Mutation_p.R192T	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	210					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CTTCAGAGCAGAGTGTCCAAT	0.527																																						uc010nar.2		NA																	0				ovary(1)|skin(1)	2						c.(628-630)AGA>ACA		olfactomedin related ER localized protein							113.0	109.0	110.0					9																	137990304		2202	4300	6502	SO:0001583	missense	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:137990304G>C	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.629G>C	9.37:g.137990304G>C	ENSP00000360858:p.Arg210Thr					OLFM1_uc004cfl.3_Missense_Mutation_p.R192T	p.R210T	NM_014279	NP_055094	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	4	945	+		Myeloproliferative disorder(178;0.0333)	210			Potential.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37	c.629G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.610413|4.610413	0.87258|0.87258	.|.	.|.	ENSG00000130558|ENSG00000130558	ENST00000545657|ENST00000252854;ENST00000371796;ENST00000539529;ENST00000371793;ENST00000539877	.|D;D;T;D;D	.|0.87809	.|-2.28;-2.29;-0.09;-2.3;-2.04	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92459|0.92459	0.7606|0.7606	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.993;0.998	.|D;D	.|0.72338	.|0.977;0.947	D|D	0.93026|0.93026	0.6444|0.6444	5|10	.|0.66056	.|D	.|0.02	.|.	18.5994|18.5994	0.91242|0.91242	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|210;192	.|Q99784;Q6IMJ8	.|NOE1_HUMAN;.	H|T	69|192;183;127;210;107	.|ENSP00000252854:R192T;ENSP00000360861:R183T;ENSP00000444296:R127T;ENSP00000360858:R210T;ENSP00000443806:R107T	.|ENSP00000252854:R192T	Q|R	+|+	3|2	2|0	OLFM1|OLFM1	137130125|137130125	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.558000|9.558000	0.98132|0.98132	2.466000|2.466000	0.83321|0.83321	0.637000|0.637000	0.83480|0.83480	CAG|AGA		0.527	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		15	56	0	0	0	0	15	56				
NOTCH1	4851	broad.mit.edu	37	9	139402742	139402742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:139402742C>T	ENST00000277541.6	-	20	3342	c.3267G>A	c.(3265-3267)tgG>tgA	p.W1089*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1089	EGF-like 28. {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)		AAAGGCCGGTCCAGCCGCTGG	0.652			"""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.(3265-3267)TGG>TGA		notch1 preproprotein							62.0	78.0	73.0					9																	139402742		2122	4222	6344	SO:0001587	stop_gained	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.chr9:139402742C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3267G>A	9.37:g.139402742C>T	ENSP00000277541:p.Trp1089*	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Nonsense_Mutation_p.W319*	p.W1089*	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	20	3267	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1089			Extracellular (Potential).|EGF-like 28.		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.3267G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	43	9.880531	0.99286	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.788	0.88543	0.0:1.0:0.0:0.0	.	.	.	.	X	1089	.	ENSP00000277541:W1089X	W	-	3	0	NOTCH1	138522563	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	7.391000	0.79828	2.439000	0.82584	0.655000	0.94253	TGG		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		31	64	0	0	0	0	31	64				
TMEM141	85014	broad.mit.edu	37	9	139686222	139686222	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:139686222C>T	ENST00000290079.8	+	2	130	c.114C>T	c.(112-114)ttC>ttT	p.F38F	TMEM141_ENST00000465017.1_3'UTR|RP11-216L13.17_ENST00000456614.2_Intron	NM_032928.3	NP_116317.1	Q96I45	TM141_HUMAN	transmembrane protein 141	38						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.67e-06)|Epithelial(140;0.000112)		TTTTCACCTTCGTCACAGGTA	0.672											OREG0019622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cje.3		NA																	0					0						c.(112-114)TTC>TTT		transmembrane protein 141							94.0	83.0	86.0					9																	139686222		2203	4300	6503	SO:0001819	synonymous_variant	85014					integral to membrane		g.chr9:139686222C>T	BC007834	CCDS7007.1	9q34.3	2009-11-13			ENSG00000244187	ENSG00000244187			28211	protein-coding gene	gene with protein product							Standard	NM_032928		Approved	MGC14141	uc004cje.4	Q96I45	OTTHUMG00000020945	ENST00000290079.8:c.114C>T	9.37:g.139686222C>T			OREG0019622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1650	TMEM141_uc011meg.1_Silent_p.F38F	p.F38F	NM_032928	NP_116317	Q96I45	TM141_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.67e-06)|Epithelial(140;0.000112)	2	160	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	38			Helical; (Potential).		A6NIZ7|Q5T5R5	Silent	SNP	ENST00000290079.8	37	c.114C>T	CCDS7007.1																																																																																				0.672	TMEM141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055119.1	NM_032928		32	49	0	0	0	0	32	49				
MRPL41	64975	broad.mit.edu	37	9	140446891	140446891	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:140446891G>C	ENST00000371443.5	+	2	1146	c.358G>C	c.(358-360)Gag>Cag	p.E120Q	DPH7_ENST00000479650.1_5'Flank|PNPLA7_ENST00000406427.1_5'Flank|PNPLA7_ENST00000277531.4_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	120					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		GTACGGCTTCGAGCCCACACA	0.602																																						uc004cnh.3		NA																	0					0						c.(358-360)GAG>CAG		mitochondrial ribosomal protein L41							31.0	28.0	29.0					9																	140446891		2202	4289	6491	SO:0001583	missense	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446891G>C	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"""Mitochondrial ribosomal proteins / large subunits"""	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.358G>C	9.37:g.140446891G>C	ENSP00000360498:p.Glu120Gln					PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank	p.E120Q	NM_032477	NP_115866	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	2	488	+	all_cancers(76;0.106)		120					Q96Q49	Missense_Mutation	SNP	ENST00000371443.5	37	c.358G>C	CCDS7046.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720115	0.89205	.	.	ENSG00000182154	ENST00000371443	.	.	.	4.82	4.82	0.62117	.	0.113733	0.64402	D	0.000020	T	0.80014	0.4546	M	0.80028	2.48	0.58432	D	0.999999	D	0.89917	1.0	D	0.72982	0.979	T	0.82997	-0.0179	9	0.72032	D	0.01	.	17.0619	0.86549	0.0:0.0:1.0:0.0	.	120	Q8IXM3	RM41_HUMAN	Q	120	.	ENSP00000360498:E120Q	E	+	1	0	MRPL41	139566712	1.000000	0.71417	0.979000	0.43373	0.817000	0.46193	7.178000	0.77657	2.509000	0.84616	0.561000	0.74099	GAG		0.602	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1	NM_032477		11	23	0	0	0	0	11	23				
EHMT1	79813	broad.mit.edu	37	9	140622883	140622883	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr9:140622883C>G	ENST00000460843.1	+	4	752	c.725C>G	c.(724-726)tCt>tGt	p.S242C	EHMT1_ENST00000462484.1_Missense_Mutation_p.S242C|EHMT1_ENST00000334856.6_Missense_Mutation_p.S211C|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	242					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)		AAAAACATTTCTGACTTTGGA	0.458																																						uc011mfc.1		NA																	0				breast(2)|pancreas(1)	3						c.(724-726)TCT>TGT		euchromatic histone-lysine N-methyltransferase 1							165.0	152.0	157.0					9																	140622883		2203	4300	6503	SO:0001583	missense	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.chr9:140622883C>G	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.725C>G	9.37:g.140622883C>G	ENSP00000417980:p.Ser242Cys					EHMT1_uc004coa.2_Missense_Mutation_p.S242C|EHMT1_uc004cob.1_Missense_Mutation_p.S211C	p.S242C	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	4	762	+	all_cancers(76;0.164)		242					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.725C>G	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738766	0.69304	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.70516	1.61;0.83;-0.49	5.72	5.72	0.89469	.	0.785431	0.11939	N	0.514908	T	0.75852	0.3906	L	0.51422	1.61	0.25885	N	0.983544	D;D;D	0.69078	0.965;0.997;0.993	P;P;P	0.59288	0.635;0.843;0.855	T	0.66559	-0.5893	10	0.45353	T	0.12	.	8.8725	0.35325	0.0:0.8742:0.0:0.1258	.	242;211;242	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	C	211;211;242;242	ENSP00000334476:S211C;ENSP00000417328:S242C;ENSP00000417980:S242C	ENSP00000334476:S211C	S	+	2	0	EHMT1	139742704	1.000000	0.71417	0.341000	0.25589	0.930000	0.56654	3.097000	0.50251	2.705000	0.92388	0.585000	0.79938	TCT		0.458	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		11	85	0	0	0	0	11	85				
ARHGAP6	395	broad.mit.edu	37	X	11187648	11187648	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:11187648C>T	ENST00000337414.4	-	9	2658	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.E393K|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.E421K|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.E393K|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.E628K|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.E596K|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.E405K	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	596	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCATAATTTTCAATCATCTTT	0.488																																						uc004cup.1		NA																	0				urinary_tract(1)|lung(1)	2						c.(1786-1788)GAA>AAA		Rho GTPase activating protein 6 isoform 1							152.0	118.0	129.0					X																	11187648		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11187648C>T	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1786G>A	X.37:g.11187648C>T	ENSP00000338967:p.Glu596Lys					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.E596K|ARHGAP6_uc004cum.1_Missense_Mutation_p.E393K|ARHGAP6_uc004cun.1_Missense_Mutation_p.E416K|ARHGAP6_uc010neb.1_Missense_Mutation_p.E418K|ARHGAP6_uc011mif.1_Missense_Mutation_p.E393K	p.E596K	NM_013427	NP_038286	O43182	RHG06_HUMAN			9	2659	-			596			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1786G>A	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416114	0.83449	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.44	5.44	0.79542	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.53938	D	0.000048	T	0.46229	0.1382	L	0.55481	1.735	0.58432	D	0.999999	B;B;P;B;P	0.51351	0.146;0.08;0.683;0.425;0.944	B;B;B;B;B	0.40199	0.039;0.067;0.322;0.131;0.304	T	0.49634	-0.8919	10	0.42905	T	0.14	.	18.4197	0.90586	0.0:1.0:0.0:0.0	.	405;393;596;596;596	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	K	421;393;393;596;432;596;405;628	ENSP00000438135:E421K;ENSP00000370112:E393K;ENSP00000302312:E393K;ENSP00000338967:E596K;ENSP00000370093:E432K;ENSP00000370094:E596K;ENSP00000389394:E405K;ENSP00000370108:E628K	ENSP00000302312:E393K	E	-	1	0	ARHGAP6	11097569	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.525000	0.60559	2.291000	0.77112	0.468000	0.43344	GAA		0.488	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		14	45	0	0	0	0	14	45				
PRPS2	5634	broad.mit.edu	37	X	12837668	12837668	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:12837668G>C	ENST00000380668.5	+	5	701	c.573G>C	c.(571-573)ttG>ttC	p.L191F	PRPS2_ENST00000398491.2_Missense_Mutation_p.L194F	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	191					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						AATTTGCTTTGATCCACAAAG	0.488																																						uc004cvb.2		NA																	0					0						c.(571-573)TTG>TTC		phosphoribosyl pyrophosphate synthetase 2							233.0	201.0	212.0					X																	12837668		2203	4300	6503	SO:0001583	missense	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12837668G>C	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.573G>C	X.37:g.12837668G>C	ENSP00000370043:p.Leu191Phe					PRPS2_uc004cva.2_Missense_Mutation_p.L194F|PRPS2_uc010nec.2_Intron	p.L191F	NM_002765	NP_002756	P11908	PRPS2_HUMAN			5	697	+			191					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	c.573G>C	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333937	0.60853	.	.	ENSG00000101911	ENST00000380668;ENST00000398491	D;D	0.90788	-2.73;-2.73	4.86	4.86	0.63082	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.91872	0.7427	L	0.52364	1.645	0.80722	D	1	B;B	0.28667	0.219;0.183	P;B	0.46659	0.523;0.388	D	0.91753	0.5414	10	0.87932	D	0	-14.9062	13.109	0.59263	0.0:0.2894:0.7106:0.0	.	191;194	P11908;P11908-2	PRPS2_HUMAN;.	F	191;194	ENSP00000370043:L191F;ENSP00000381504:L194F	ENSP00000370043:L191F	L	+	3	2	PRPS2	12747589	0.976000	0.34144	0.998000	0.56505	0.916000	0.54674	0.039000	0.13884	2.125000	0.65367	0.513000	0.50165	TTG		0.488	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		36	120	0	0	0	0	36	120				
DMD	1756	broad.mit.edu	37	X	31986604	31986604	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:31986604G>T	ENST00000357033.4	-	45	6672	c.6466C>A	c.(6466-6468)Caa>Aaa	p.Q2156K	DMD_ENST00000378677.2_Missense_Mutation_p.Q2152K|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2156					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACAACAGTTTGCCGCTGCCCA	0.393																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6466-6468)CAA>AAA		dystrophin Dp427m isoform							71.0	63.0	66.0					X																	31986604		2202	4298	6500	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31986604G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6466C>A	X.37:g.31986604G>T	ENSP00000354923:p.Gln2156Lys					DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.Q812K|DMD_uc004dcx.2_Missense_Mutation_p.Q815K|DMD_uc004dcz.2_Missense_Mutation_p.Q2033K|DMD_uc004dcy.1_Missense_Mutation_p.Q2152K|DMD_uc004ddb.1_Missense_Mutation_p.Q2148K|DMD_uc010ngo.1_Missense_Mutation_p.Q65K|DMD_uc010ngn.1_Intron	p.Q2156K	NM_004006	NP_003997	P11532	DMD_HUMAN			45	6710	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2156			Spectrin 15.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6466C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359969	0.41801	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.51071	0.72;0.72	5.37	4.45	0.53987	.	0.000000	0.34291	U	0.004089	T	0.42877	0.1222	L	0.50333	1.59	0.80722	D	1	P;B;B;B;P;B	0.42757	0.48;0.206;0.024;0.245;0.789;0.245	B;B;B;B;B;B	0.40940	0.187;0.052;0.037;0.087;0.344;0.059	T	0.30650	-0.9971	10	0.25751	T	0.34	.	14.0133	0.64509	0.0:0.0:0.8484:0.1516	.	815;2148;2156;2152;815;812	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	K	2148;815;812;2152;2156;2156;2033	ENSP00000367948:Q2152K;ENSP00000354923:Q2156K	ENSP00000354923:Q2156K	Q	-	1	0	DMD	31896525	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	5.359000	0.66074	2.244000	0.73946	0.538000	0.68166	CAA		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		20	53	1	0	1.38e-19	1.5e-19	20	53				
SYTL5	94122	broad.mit.edu	37	X	37969686	37969686	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:37969686C>T	ENST00000357972.5	+	13	2093	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.S516L|SYTL5_ENST00000456733.2_Missense_Mutation_p.S538L			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	516					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CCTTTTGACTCATGGAACTTT	0.438																																						uc004ddu.2		NA																	0				skin(1)	1						c.(1546-1548)TCA>TTA		synaptotagmin-like 5 isoform 1							142.0	124.0	130.0					X																	37969686		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37969686C>T		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1547C>T	X.37:g.37969686C>T	ENSP00000350657:p.Ser516Leu					SYTL5_uc004ddv.2_Missense_Mutation_p.S516L|SYTL5_uc004ddx.2_Missense_Mutation_p.S538L	p.S516L	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			14	2081	+			516					A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.1547C>T	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	C	34	5.361103	0.95877	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.09073	3.02;3.02;3.02	5.6	5.6	0.85130	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.056142	0.64402	D	0.000001	T	0.31009	0.0783	M	0.80982	2.52	0.58432	D	0.999993	D;P	0.76494	0.999;0.765	D;P	0.64144	0.922;0.656	T	0.02751	-1.1115	10	0.51188	T	0.08	-11.5927	18.6615	0.91473	0.0:1.0:0.0:0.0	.	538;516	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	L	516;516;538	ENSP00000297875:S516L;ENSP00000350657:S516L;ENSP00000395220:S538L	ENSP00000297875:S516L	S	+	2	0	SYTL5	37854630	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.745000	0.68672	2.351000	0.79841	0.529000	0.55759	TCA		0.438	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		18	113	0	0	0	0	18	113				
PAGE5	90737	broad.mit.edu	37	X	55247872	55247872	+	Silent	SNP	T	T	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:55247872T>C	ENST00000289619.5	+	2	362	c.117T>C	c.(115-117)tcT>tcC	p.S39S	PAGE5_ENST00000374952.1_Silent_p.S19S|PAGE5_ENST00000374955.3_Silent_p.S19S	NM_130467.3	NP_569734.2	Q96GU1	PAGE5_HUMAN	P antigen family, member 5 (prostate associated)	39										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						ACCAAGAGTCTTCCCAGCCAG	0.348																																						uc004duj.2		NA																	0					0						c.(115-117)TCT>TCC		P antigen family, member 5 isoform 1							110.0	93.0	99.0					X																	55247872		2203	4300	6503	SO:0001819	synonymous_variant	90737							g.chrX:55247872T>C	AJ344352	CCDS14368.1, CCDS35306.1	Xp11.22	2009-08-18			ENSG00000158639	ENSG00000158639			29992	protein-coding gene	gene with protein product	"""cancer/testis antigen family 16, member 1"", ""cancer/testis antigen family 16, member 2"""					11920606, 11992404	Standard	XM_006724613		Approved	PAGE-5, CT16.1, CT16.2	uc004duk.3	Q96GU1	OTTHUMG00000021650	ENST00000289619.5:c.117T>C	X.37:g.55247872T>C						PAGE5_uc004duk.2_Silent_p.S19S	p.S39S	NM_130467	NP_569734	Q96GU1	GGEE1_HUMAN			2	359	+			39					Q2NL97|Q5JUL0|Q8WWL9	Silent	SNP	ENST00000289619.5	37	c.117T>C	CCDS14368.1																																																																																				0.348	PAGE5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056861.1	NM_130467		25	53	0	0	0	0	25	53				
SPIN4	139886	broad.mit.edu	37	X	62570191	62570191	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:62570191C>T	ENST00000335144.3	-	1	1027	c.508G>A	c.(508-510)Gac>Aac	p.D170N	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_Missense_Mutation_p.D152N	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	170					gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						TCTTTGTAGTCATCAAGCAGC	0.478																																						uc004dvf.2		NA																	0				ovary(1)|lung(1)	2						c.(508-510)GAC>AAC		spindlin family, member 4							149.0	139.0	142.0					X																	62570191		2031	4177	6208	SO:0001583	missense	139886				gamete generation			g.chrX:62570191C>T	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.508G>A	X.37:g.62570191C>T	ENSP00000334163:p.Asp170Asn						p.D170N	NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN			1	1028	-			170					B3KX90|Q5JUL2	Missense_Mutation	SNP	ENST00000335144.3	37	c.508G>A	CCDS43964.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572846	0.86542	.	.	ENSG00000186767	ENST00000374884;ENST00000335144	T;T	0.58060	0.4;0.36	3.76	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.73210	0.3558	M	0.84683	2.71	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	T	0.78214	-0.2291	10	0.72032	D	0.01	-34.2988	12.6174	0.56584	0.0:1.0:0.0:0.0	.	170	Q56A73	SPIN4_HUMAN	N	152;170	ENSP00000364018:D152N;ENSP00000334163:D170N	ENSP00000334163:D170N	D	-	1	0	SPIN4	62486916	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.280000	0.72626	2.130000	0.65690	0.544000	0.68410	GAC		0.478	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968		25	91	0	0	0	0	25	91				
LPAR4	2846	broad.mit.edu	37	X	78010707	78010707	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:78010707C>G	ENST00000435339.3	+	2	727	c.341C>G	c.(340-342)tCt>tGt	p.S114C		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	114					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)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGCAAGATCTCTGGAACTGCA	0.433																																						uc010nme.2		NA																	0				ovary(3)	3						c.(340-342)TCT>TGT		lysophosphatidic acid receptor 4							174.0	142.0	153.0					X																	78010707		2203	4299	6502	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010707C>G	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.341C>G	X.37:g.78010707C>G	ENSP00000408205:p.Ser114Cys						p.S114C	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	746	+			114			Helical; Name=3; (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.341C>G	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494536	0.44352	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.37915	1.17;1.17	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.071223	0.64402	D	0.000017	T	0.52565	0.1742	L	0.49256	1.55	0.46011	D	0.998815	D	0.89917	1.0	D	0.81914	0.995	T	0.52366	-0.8585	10	0.45353	T	0.12	.	14.3969	0.67018	0.0:1.0:0.0:0.0	.	114	Q99677	LPAR4_HUMAN	C	114	ENSP00000408205:S114C;ENSP00000362398:S114C	ENSP00000362398:S114C	S	+	2	0	LPAR4	77897363	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.447000	0.66606	1.943000	0.56356	0.422000	0.28245	TCT		0.433	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		27	121	0	0	0	0	27	121				
P2RY10	27334	broad.mit.edu	37	X	78216233	78216233	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:78216233C>G	ENST00000171757.2	+	4	496	c.216C>G	c.(214-216)ttC>ttG	p.F72L	P2RY10_ENST00000544091.1_Missense_Mutation_p.F72L|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	72						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						CCATCATTTTCATGATCAACC	0.458																																						uc004ede.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(214-216)TTC>TTG		G-protein coupled purinergic receptor P2Y10							146.0	122.0	130.0					X																	78216233		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216233C>G	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.216C>G	X.37:g.78216233C>G	ENSP00000171757:p.Phe72Leu					P2RY10_uc004edf.2_Missense_Mutation_p.F72L	p.F72L	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	585	+			72			Helical; Name=2; (Potential).		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.216C>G	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340410	0.60963	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.75704	-0.96;-0.96	4.77	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82282	0.5003	M	0.68317	2.08	0.51767	D	0.999938	D	0.89917	1.0	D	0.87578	0.998	T	0.81116	-0.1079	10	0.87932	D	0	.	8.8742	0.35334	0.0:0.813:0.0:0.187	.	72	O00398	P2Y10_HUMAN	L	72	ENSP00000443138:F72L;ENSP00000171757:F72L	ENSP00000171757:F72L	F	+	3	2	P2RY10	78102889	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	1.078000	0.30754	0.455000	0.26910	0.422000	0.28245	TTC		0.458	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			12	101	0	0	0	0	12	101				
NAP1L3	4675	broad.mit.edu	37	X	92928297	92928297	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:92928297C>G	ENST00000373079.3	-	1	270	c.7G>C	c.(7-9)Gaa>Caa	p.E3Q	FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Splice_Site|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	3					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						AAATCTGCTTCTGCCATCTTG	0.562																																						uc004efq.2		NA																	0				ovary(1)|skin(1)	2						c.(7-9)GAA>CAA		nucleosome assembly protein 1-like 3							44.0	41.0	42.0					X																	92928297		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928297C>G		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.7G>C	X.37:g.92928297C>G	ENSP00000362171:p.Glu3Gln					FAM133A_uc004efr.1_5'Flank	p.E3Q	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	312	-			3					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.7G>C	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763038	0.49574	.	.	ENSG00000186310	ENST00000373079	T	0.39229	1.09	3.65	3.65	0.41850	.	0.333784	0.30695	N	0.009080	T	0.34483	0.0899	N	0.24115	0.695	0.28537	N	0.91228	D	0.58268	0.982	P	0.47118	0.538	T	0.29212	-1.0019	10	0.87932	D	0	.	12.4852	0.55868	0.0:1.0:0.0:0.0	.	3	Q99457	NP1L3_HUMAN	Q	3	ENSP00000362171:E3Q	ENSP00000362171:E3Q	E	-	1	0	NAP1L3	92814953	1.000000	0.71417	0.995000	0.50966	0.826000	0.46750	2.715000	0.47210	2.097000	0.63578	0.529000	0.55759	GAA		0.562	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		17	55	0	0	0	0	17	55				
CENPI	2491	broad.mit.edu	37	X	100382652	100382652	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:100382652G>C	ENST00000372927.1	+	10	1349	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	CENPI_ENST00000372926.1_Missense_Mutation_p.E358Q|CENPI_ENST00000423383.1_Missense_Mutation_p.E358Q|CENPI_ENST00000218507.5_Missense_Mutation_p.E358Q	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	358					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CCATTGCTTAGAGGTATGTGA	0.353																																						uc004egx.2		NA																	0				skin(1)	1						c.(1072-1074)GAG>CAG		centromere protein I							110.0	104.0	106.0					X																	100382652		2203	4298	6501	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100382652G>C	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1072G>C	X.37:g.100382652G>C	ENSP00000362018:p.Glu358Gln					CENPI_uc011mrg.1_Missense_Mutation_p.E358Q|CENPI_uc004egy.2_Missense_Mutation_p.E358Q	p.E358Q	NM_006733	NP_006724	Q92674	CENPI_HUMAN			10	1342	+			358					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.1072G>C	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	g	18.53	3.644799	0.67358	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.4	4.49	0.54785	.	0.045846	0.85682	D	0.000000	T	0.72391	0.3454	M	0.64404	1.975	0.48901	D	0.999721	D;D	0.60575	0.988;0.988	P;P	0.59761	0.863;0.863	T	0.71290	-0.4637	9	0.33940	T	0.23	-14.6097	15.8076	0.78527	0.0:0.1324:0.8676:0.0	.	358;358	B4DZL4;Q92674	.;CENPI_HUMAN	Q	358	.	ENSP00000218507:E358Q	E	+	1	0	CENPI	100269308	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	5.351000	0.66022	2.397000	0.81536	0.594000	0.82650	GAG		0.353	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		41	103	0	0	0	0	41	103				
DRP2	1821	broad.mit.edu	37	X	100505953	100505953	+	Silent	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:100505953C>T	ENST00000395209.3	+	16	2273	c.1746C>T	c.(1744-1746)gtC>gtT	p.V582V	DRP2_ENST00000541709.1_Silent_p.V504V|DRP2_ENST00000402866.1_Silent_p.V582V|DRP2_ENST00000538510.1_Silent_p.V582V	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	582					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGGAGTGGGTCAACCTGGAGC	0.537																																						uc004egz.2		NA																	0				ovary(2)	2						c.(1744-1746)GTC>GTT		dystrophin related protein 2							169.0	137.0	148.0					X																	100505953		2203	4300	6503	SO:0001819	synonymous_variant	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100505953C>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1746C>T	X.37:g.100505953C>T						DRP2_uc011mrh.1_Silent_p.V504V	p.V582V	NM_001939	NP_001930	Q13474	DRP2_HUMAN			16	2115	+			582					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Silent	SNP	ENST00000395209.3	37	c.1746C>T	CCDS14480.2																																																																																				0.537	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		23	98	0	0	0	0	23	98				
ARMCX2	9823	broad.mit.edu	37	X	100911314	100911314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:100911314G>A	ENST00000328766.5	-	5	1714	c.1261C>T	c.(1261-1263)Caa>Taa	p.Q421*	ARMCX2_ENST00000330154.2_Nonsense_Mutation_p.Q421*|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Nonsense_Mutation_p.Q421*	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	421						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						ATTGTCTCTTGATTGCATGAA	0.413																																						uc004eid.2		NA																	0				ovary(6)	6						c.(1261-1263)CAA>TAA		ALEX2 protein							129.0	115.0	120.0					X																	100911314		2203	4300	6503	SO:0001587	stop_gained	9823					integral to membrane	binding	g.chrX:100911314G>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1261C>T	X.37:g.100911314G>A	ENSP00000331662:p.Gln421*					ARMCX2_uc004eie.3_Nonsense_Mutation_p.Q421*|ARMCX2_uc004eif.3_Nonsense_Mutation_p.Q421*|ARMCX2_uc004eig.3_Nonsense_Mutation_p.Q421*|ARMCX2_uc010nnt.2_Nonsense_Mutation_p.Q421*	p.Q421*	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			3	1616	-			421			ARM 2.		O60267|Q5H9D9	Nonsense_Mutation	SNP	ENST00000328766.5	37	c.1261C>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	G	40	8.190157	0.98699	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	.	.	.	4.09	3.2	0.36748	.	0.110266	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.1469	8.6029	0.33756	0.0:0.2294:0.7706:0.0	.	.	.	.	X	421	.	ENSP00000331662:Q421X	Q	-	1	0	ARMCX2	100797970	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.683000	0.61679	1.032000	0.39892	0.422000	0.28245	CAA		0.413	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		20	68	0	0	0	0	20	68				
BHLHB9	80823	broad.mit.edu	37	X	102004986	102004986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:102004986C>T	ENST00000372735.1	+	4	1648	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S	BHLHB9_ENST00000457056.1_Missense_Mutation_p.P355S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.P355S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.P355S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.P355S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	355					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TAATGTTCACCCATTTGCCCA	0.363																																						uc010nog.2		NA																	0				ovary(2)	2						c.(1063-1065)CCA>TCA		basic helix-loop-helix domain containing, class							72.0	62.0	65.0					X																	102004986		2203	4300	6503	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102004986C>T	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1063C>T	X.37:g.102004986C>T	ENSP00000361820:p.Pro355Ser					BHLHB9_uc011mrq.1_Missense_Mutation_p.P355S|BHLHB9_uc011mrr.1_Missense_Mutation_p.P355S|BHLHB9_uc011mrs.1_Missense_Mutation_p.P355S|BHLHB9_uc011mrt.1_Missense_Mutation_p.P355S|BHLHB9_uc004ejo.2_Missense_Mutation_p.P355S|BHLHB9_uc011mru.1_Missense_Mutation_p.P355S|BHLHB9_uc011mrv.1_Missense_Mutation_p.P355S	p.P355S	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN			4	1634	+			355					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.1063C>T	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529019	0.44969	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	4.51	3.65	0.41850	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.45606	D	0.000355	T	0.16214	0.0390	N	0.17723	0.515	0.27837	N	0.941257	P	0.36162	0.54	B	0.39805	0.31	T	0.09751	-1.0660	9	.	.	.	-11.1893	7.3406	0.26635	0.0:0.8809:0.0:0.1191	.	355	Q6PI77	BHLH9_HUMAN	S	355	ENSP00000403226:P355S;ENSP00000354675:P355S;ENSP00000405893:P355S;ENSP00000391722:P355S;ENSP00000361820:P355S	.	P	+	1	0	BHLHB9	101891642	1.000000	0.71417	0.960000	0.40013	0.798000	0.45092	2.883000	0.48554	1.237000	0.43756	0.544000	0.68410	CCA		0.363	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		5	73	0	0	0	0	5	73				
ESX1	80712	broad.mit.edu	37	X	103498857	103498857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:103498857G>A	ENST00000372588.4	-	2	567	c.484C>T	c.(484-486)Caa>Taa	p.Q162*		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	162					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TCGGGATATTGAGATTCATCG	0.612																																					Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.2		NA																	0				ovary(1)	1						c.(484-486)CAA>TAA		extraembryonic, spermatogenesis, homeobox							53.0	54.0	54.0					X																	103498857		2203	4298	6501	SO:0001587	stop_gained	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103498857G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.484C>T	X.37:g.103498857G>A	ENSP00000361669:p.Gln162*						p.Q162*	NM_153448	NP_703149	Q8N693	ESX1_HUMAN			2	542	-			162			Homeobox.		B0QYU3|Q7Z6K7	Nonsense_Mutation	SNP	ENST00000372588.4	37	c.484C>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	g	21.4	4.139658	0.77775	.	.	ENSG00000123576	ENST00000372588	.	.	.	4.48	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.2124	7.2052	0.25903	0.1204:0.0:0.8796:0.0	.	.	.	.	X	162	.	ENSP00000361669:Q162X	Q	-	1	0	ESX1	103385513	0.385000	0.25172	0.001000	0.08648	0.010000	0.07245	4.857000	0.62939	1.235000	0.43724	0.534000	0.68092	CAA		0.612	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		22	70	0	0	0	0	22	70				
IRS4	8471	broad.mit.edu	37	X	107976960	107976960	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:107976960G>A	ENST00000372129.2	-	1	2691	c.2615C>T	c.(2614-2616)tCa>tTa	p.S872L	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	872					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTTTGAAGGTGATCCCCCATC	0.443																																						uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(2614-2616)TCA>TTA		insulin receptor substrate 4							175.0	182.0	180.0					X																	107976960		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976960G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2615C>T	X.37:g.107976960G>A	ENSP00000361202:p.Ser872Leu						p.S872L	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	2648	-			872						Missense_Mutation	SNP	ENST00000372129.2	37	c.2615C>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	5.854	0.341776	0.11069	.	.	ENSG00000133124	ENST00000372129	T	0.23950	1.88	5.08	4.22	0.49857	.	1.084270	0.07080	N	0.836966	T	0.27832	0.0685	M	0.64997	1.995	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43114	-0.9411	10	0.11182	T	0.66	-2.8432	11.0802	0.48055	0.0878:0.0:0.9122:0.0	.	872	O14654	IRS4_HUMAN	L	872	ENSP00000361202:S872L	ENSP00000361202:S872L	S	-	2	0	IRS4	107863616	0.891000	0.30450	0.002000	0.10522	0.009000	0.06853	4.072000	0.57563	1.115000	0.41800	-0.191000	0.12829	TCA		0.443	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		58	201	0	0	0	0	58	201				
IRS4	8471	broad.mit.edu	37	X	107976981	107976981	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:107976981G>A	ENST00000372129.2	-	1	2670	c.2594C>T	c.(2593-2595)tCa>tTa	p.S865L	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	865					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCCAGGCTTTGAGAATGATCC	0.468																																						uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(2593-2595)TCA>TTA		insulin receptor substrate 4							178.0	184.0	182.0					X																	107976981		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976981G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2594C>T	X.37:g.107976981G>A	ENSP00000361202:p.Ser865Leu						p.S865L	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	2627	-			865						Missense_Mutation	SNP	ENST00000372129.2	37	c.2594C>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962440	0.53400	.	.	ENSG00000133124	ENST00000372129	T	0.37411	1.2	5.18	4.23	0.50019	.	0.448039	0.21459	N	0.074184	T	0.32164	0.0820	L	0.50333	1.59	0.09310	N	0.999999	B	0.22909	0.077	B	0.15052	0.012	T	0.20240	-1.0281	10	0.49607	T	0.09	-0.8838	11.9647	0.53027	0.1529:0.0:0.8471:0.0	.	865	O14654	IRS4_HUMAN	L	865	ENSP00000361202:S865L	ENSP00000361202:S865L	S	-	2	0	IRS4	107863637	0.997000	0.39634	0.488000	0.27440	0.637000	0.38172	4.090000	0.57693	2.377000	0.81083	0.600000	0.82982	TCA		0.468	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		60	212	0	0	0	0	60	212				
WDR44	54521	broad.mit.edu	37	X	117526862	117526862	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:117526862G>C	ENST00000254029.3	+	4	849	c.454G>C	c.(454-456)Gat>Cat	p.D152H	WDR44_ENST00000371822.5_Missense_Mutation_p.D127H|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.D152H	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	152	Binding activity.					endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GAAACCAGTAGATGAAACCAC	0.378																																						uc004eqn.2		NA																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(454-456)GAT>CAT		WD repeat domain 44 protein							106.0	97.0	100.0					X																	117526862		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117526862G>C	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.454G>C	X.37:g.117526862G>C	ENSP00000254029:p.Asp152His					WDR44_uc004eqo.2_Missense_Mutation_p.D152H|WDR44_uc011mtr.1_Missense_Mutation_p.D127H|WDR44_uc010nqi.2_5'UTR	p.D152H	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			4	879	+			152			Potential.|Binding activity.		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.454G>C	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.77|11.77	1.736294|1.736294	0.30774|0.30774	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825|ENST00000371848	T;T;T|.	0.73152|.	-0.72;-0.16;-0.03|.	5.63|5.63	3.51|3.51	0.40186|0.40186	.|.	0.428396|.	0.21961|.	N|.	0.066588|.	T|T	0.20861|0.20861	0.0502|0.0502	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	P;B;P|.	0.50710|.	0.938;0.003;0.802|.	P;B;B|.	0.48368|.	0.575;0.006;0.367|.	T|T	0.18650|0.18650	-1.0330|-1.0330	10|5	0.62326|.	D|.	0.03|.	-21.7154|-21.7154	6.2992|6.2992	0.21103|0.21103	0.124:0.0:0.5635:0.3125|0.124:0.0:0.5635:0.3125	.|.	127;152;152|.	F8W913;Q5JSH3-2;Q5JSH3|.	.;.;WDR44_HUMAN|.	H|T	127;152;152|51	ENSP00000360887:D127H;ENSP00000254029:D152H;ENSP00000360890:D152H|.	ENSP00000254029:D152H|.	D|R	+|+	1|2	0|0	WDR44|WDR44	117410890|117410890	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.520000|0.520000	0.34377|0.34377	3.088000|3.088000	0.50175|0.50175	1.106000|1.106000	0.41623|0.41623	0.600000|0.600000	0.82982|0.82982	GAT|AGA		0.378	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		25	91	0	0	0	0	25	91				
SASH3	54440	broad.mit.edu	37	X	128926786	128926786	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:128926786G>A	ENST00000356892.3	+	6	889	c.775G>A	c.(775-777)Gag>Aag	p.E259K	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	259	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GACCCTGCATGAGCTGCTGGA	0.607																																						uc011mun.1		NA																	0				ovary(2)|pancreas(1)	3						c.(775-777)GAG>AAG		SAM and SH3 domain containing 3							37.0	34.0	35.0					X																	128926786		2203	4298	6501	SO:0001583	missense	54440							g.chrX:128926786G>A	BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.775G>A	X.37:g.128926786G>A	ENSP00000349359:p.Glu259Lys					SASH3_uc004euu.2_Missense_Mutation_p.E259K|SASH3_uc011muo.1_Missense_Mutation_p.E226K	p.E259K	NM_018990	NP_061863	O75995	SASH3_HUMAN			6	957	+			259			SAM.		A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	ENST00000356892.3	37	c.775G>A	CCDS14614.1	.	.	.	.	.	.	.	.	.	.	G	36	5.793568	0.96952	.	.	ENSG00000122122	ENST00000443760;ENST00000356892	D	0.86164	-2.08	5.26	5.26	0.73747	Src homology-3 domain (1);Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.94935	0.8362	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	D	0.95706	0.8753	10	0.59425	D	0.04	-13.9634	17.6949	0.88278	0.0:0.0:1.0:0.0	.	277;259	B4DKQ0;O75995	.;SASH3_HUMAN	K	277;259	ENSP00000349359:E259K	ENSP00000349359:E259K	E	+	1	0	SASH3	128754467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.209000	0.71365	0.529000	0.55759	GAG		0.607	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990		13	15	0	0	0	0	13	15				
GPR101	83550	broad.mit.edu	37	X	136113291	136113291	+	Silent	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:136113291G>C	ENST00000298110.1	-	1	542	c.543C>G	c.(541-543)ctC>ctG	p.L181L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCATGGAGCAGAGAGCATTGC	0.572																																						uc011mwh.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(541-543)CTC>CTG		G protein-coupled receptor 101							53.0	45.0	48.0					X																	136113291		2203	4300	6503	SO:0001819	synonymous_variant	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113291G>C	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.543C>G	X.37:g.136113291G>C							p.L181L	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	543	-	Acute lymphoblastic leukemia(192;0.000127)		181			Extracellular (Potential).		Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	c.543C>G	CCDS14662.1																																																																																				0.572	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			11	22	0	0	0	0	11	22				
FMR1NB	158521	broad.mit.edu	37	X	147084799	147084799	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:147084799A>T	ENST00000370467.3	+	2	430	c.356A>T	c.(355-357)gAt>gTt	p.D119V		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	119						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAAGAAGATTCCGCATTG	0.353																																						uc004fcm.2		NA																	0				ovary(1)	1						c.(355-357)GAT>GTT		fragile X mental retardation 1 neighbor							121.0	112.0	115.0					X																	147084799		2203	4300	6503	SO:0001583	missense	158521					integral to membrane		g.chrX:147084799A>T		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.356A>T	X.37:g.147084799A>T	ENSP00000359498:p.Asp119Val						p.D119V	NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN			2	430	+	Acute lymphoblastic leukemia(192;6.56e-05)		119			Extracellular (Potential).		D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.356A>T	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.911364	0.33721	.	.	ENSG00000176988	ENST00000370467	T	0.52754	0.65	4.94	-9.88	0.00467	.	5.383350	0.00166	N	0.000019	T	0.19685	0.0473	N	0.08118	0	0.09310	N	1	B	0.29671	0.254	B	0.26614	0.071	T	0.24083	-1.0170	10	0.46703	T	0.11	6.007	0.4524	0.00503	0.2526:0.2849:0.1584:0.3041	.	119	Q8N0W7	FMR1N_HUMAN	V	119	ENSP00000359498:D119V	ENSP00000359498:D119V	D	+	2	0	FMR1NB	146892491	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.096000	0.00152	-3.006000	0.00274	-1.604000	0.00809	GAT		0.353	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		26	62	0	0	0	0	26	62				
MAGEA8	4107	broad.mit.edu	37	X	149013285	149013285	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:149013285G>C	ENST00000542674.1	+	3	760	c.239G>C	c.(238-240)tGg>tCg	p.W80S	MAGEA8_ENST00000286482.1_Missense_Mutation_p.W80S|MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000535454.1_Missense_Mutation_p.W80S	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	80										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AGCACTCTGTGGAGCCAATCC	0.597																																						uc004fdw.1		NA																	0					0						c.(238-240)TGG>TCG		melanoma antigen family A, 8							66.0	61.0	63.0					X																	149013285		2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013285G>C		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.239G>C	X.37:g.149013285G>C	ENSP00000443776:p.Trp80Ser						p.W80S	NM_005364	NP_005355	P43361	MAGA8_HUMAN			3	454	+	Acute lymphoblastic leukemia(192;6.56e-05)		80					Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.239G>C	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	0.262	-0.998846	0.02128	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.04015	3.73;3.73;3.73	0.805	-1.06	0.10002	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.05135	0.0137	L	0.58510	1.815	0.09310	N	1	B	0.22983	0.078	B	0.26310	0.068	T	0.45934	-0.9227	8	0.19147	T	0.46	.	.	.	.	.	80	P43361	MAGA8_HUMAN	S	80	ENSP00000438293:W80S;ENSP00000443776:W80S;ENSP00000286482:W80S	ENSP00000286482:W80S	W	+	2	0	MAGEA8	148773943	0.001000	0.12720	0.008000	0.14137	0.014000	0.08584	-0.021000	0.12504	-0.400000	0.07656	0.190000	0.17370	TGG		0.597	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		14	52	0	0	0	0	14	52				
ABCD1	215	broad.mit.edu	37	X	153006073	153006073	+	Silent	SNP	G	G	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:153006073G>A	ENST00000218104.3	+	7	2079	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	560	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		P -> L (in ALD; CALD-type). {ECO:0000269|PubMed:21700483, ECO:0000269|PubMed:21889498, ECO:0000269|PubMed:7717396}.|P -> R (in ALD; AMN and ALMD-types).|P -> S (in ALD).		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGATCTACCCGGACTCAGTGG	0.637																																						uc004fif.2		NA																	0					0						c.(1678-1680)CCG>CCA		ATP-binding cassette, sub-family D (ALD), member							80.0	64.0	69.0					X																	153006073		2203	4300	6503	SO:0001819	synonymous_variant	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153006073G>A	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1680G>A	X.37:g.153006073G>A						ABCD1_uc004fig.2_Silent_p.P60P|ABCD1_uc004fih.2_5'Flank	p.P560P	NM_000033	NP_000024	P33897	ABCD1_HUMAN			7	2079	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		560		P -> S (in X-ALD).|P -> L (in X-ALD; CALD-type).|P -> R (in X-ALD; AMN and ALMD-types).	ABC transporter.		Q6GTZ2	Silent	SNP	ENST00000218104.3	37	c.1680G>A	CCDS14728.1																																																																																				0.637	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		15	54	0	0	0	0	15	54				
FAM50A	9130	broad.mit.edu	37	X	153677638	153677638	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chrX:153677638G>C	ENST00000393600.3	+	8	828	c.718G>C	c.(718-720)Gag>Cag	p.E240Q		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	240					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGACTTCAGTGAGCTGAGGTG	0.592																																						uc004fll.3		NA																	0				ovary(1)	1						c.(718-720)GAG>CAG		XAP-5 protein							211.0	167.0	182.0					X																	153677638		2203	4300	6503	SO:0001583	missense	9130				spermatogenesis	nucleus		g.chrX:153677638G>C	BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9928 expressed sequence"""	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.718G>C	X.37:g.153677638G>C	ENSP00000377225:p.Glu240Gln						p.E240Q	NM_004699	NP_004690	Q14320	FA50A_HUMAN			8	816	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		240					A8KAQ4|B2R997|Q5HY37|Q6PJH5	Missense_Mutation	SNP	ENST00000393600.3	37	c.718G>C	CCDS14751.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926479	0.52759	.	.	ENSG00000071859	ENST00000393600;ENST00000158526	.	.	.	5.17	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.84474	0.5480	M	0.92880	3.355	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.86729	0.1947	9	0.62326	D	0.03	-39.5917	11.882	0.52581	0.0888:0.0:0.9112:0.0	.	240	Q14320	FA50A_HUMAN	Q	240;200	.	ENSP00000158526:E200Q	E	+	1	0	FAM50A	153330832	1.000000	0.71417	0.950000	0.38849	0.074000	0.17049	9.032000	0.93736	1.070000	0.40811	0.600000	0.82982	GAG		0.592	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081643.2	NM_004699		11	33	0	0	0	0	11	33				
NOTCH2	4853	broad.mit.edu	37	1	120480487	120480487	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr1:120480487delG	ENST00000256646.2	-	20	3549	c.3330delC	c.(3328-3330)tccfs	p.S1110fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1110	EGF-like 29. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCTCTCCTGGAGGCTGCTA	0.483			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(3328-3330)TCCfs		notch 2 preproprotein							106.0	92.0	97.0					1																	120480487		2203	4300	6503	SO:0001589	frameshift_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120480487delG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3330delC	1.37:g.120480487delG	ENSP00000256646:p.Ser1110fs					NOTCH2_uc001eil.2_Frame_Shift_Del_p.S1110fs	p.S1110fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	20	3586	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1110			EGF-like 29.|Extracellular (Potential).		Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.3330delC	CCDS908.1																																																																																				0.483	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		14	43	NA	NA	NA	NA	14	43	---	---	---	---
IFT81	28981	broad.mit.edu	37	12	110628806	110628806	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr12:110628806delG	ENST00000242591.5	+	13	1926	c.1420delG	c.(1420-1422)gaafs	p.E474fs	IFT81_ENST00000552912.1_Frame_Shift_Del_p.E474fs	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	474					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						ACTGAAGAGTGAAGTTGATGA	0.333																																						uc001tqi.2		NA																	0				ovary(1)	1						c.(1420-1422)GAAfs		intraflagellar transport 81-like isoform 1							122.0	117.0	119.0					12																	110628806		1863	4107	5970	SO:0001589	frameshift_variant	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110628806delG	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1420delG	12.37:g.110628806delG	ENSP00000242591:p.Glu474fs					IFT81_uc001tqh.2_Frame_Shift_Del_p.E474fs|IFT81_uc001tqj.2_RNA	p.E474fs	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN			13	1550	+			474					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Frame_Shift_Del	DEL	ENST00000242591.5	37	c.1420delG	CCDS41831.1																																																																																				0.333	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		34	76	NA	NA	NA	NA	34	76	---	---	---	---
LONP2	83752	broad.mit.edu	37	16	48286135	48286135	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr16:48286135delG	ENST00000285737.4	+	2	420	c.327delG	c.(325-327)cagfs	p.Q109fs	LONP2_ENST00000535754.1_Frame_Shift_Del_p.Q109fs	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCCGTTTCCAGATTGTACAGG	0.507																																						uc002efi.1		NA																	0					0						c.(325-327)CAGfs		peroxisomal LON protease-like							79.0	70.0	73.0					16																	48286135		2200	4300	6500	SO:0001589	frameshift_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48286135delG	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.327delG	16.37:g.48286135delG	ENSP00000285737:p.Gln109fs					LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Frame_Shift_Del_p.Q109fs	p.Q109fs	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			2	416	+			109			Lon.			Frame_Shift_Del	DEL	ENST00000285737.4	37	c.327delG	CCDS10734.1																																																																																				0.507	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		14	30	NA	NA	NA	NA	14	30	---	---	---	---
RAP1GAP2	23108	broad.mit.edu	37	17	2930332	2930332	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr17:2930332delC	ENST00000254695.8	+	22	2165	c.2075delC	c.(2074-2076)gccfs	p.A692fs	RAP1GAP2_ENST00000366401.4_Frame_Shift_Del_p.A677fs|RAP1GAP2_ENST00000540393.2_Frame_Shift_Del_p.A673fs|RAP1GAP2_ENST00000542807.1_Frame_Shift_Del_p.A692fs	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	692	Ser-rich.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GGGGCAGCTGCCACCCCGATC	0.647																																						uc010ckd.2		NA																	0				ovary(1)	1						c.(2074-2076)GCCfs		RAP1 GTPase activating protein 2 isoform 1							22.0	27.0	25.0					17																	2930332		2192	4280	6472	SO:0001589	frameshift_variant	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2930332delC	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.2075delC	17.37:g.2930332delC	ENSP00000254695:p.Ala692fs					RAP1GAP2_uc010cke.2_Frame_Shift_Del_p.A677fs	p.A692fs	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN			22	2165	+			692			Ser-rich.		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Frame_Shift_Del	DEL	ENST00000254695.8	37	c.2075delC	CCDS45573.1																																																																																				0.647	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			2	4	NA	NA	NA	NA	2	4	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19725330	19725331	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr21:19725330_19725331insA	ENST00000284885.3	-	10	1093_1094	c.1060_1061insT	c.(1060-1062)tgtfs	p.C354fs		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	354	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.C354F(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GACCCAGAAACAAAAGCCATCC	0.332																																						uc002ykw.2		NA																	1	Substitution - Missense(1)	p.C354F(1)	ovary(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(1060-1062)TGTfs		enterokinase precursor																																				SO:0001589	frameshift_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19725330_19725331insA		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1061dupT	21.37:g.19725334_19725334dupA	ENSP00000284885:p.Cys354fs						p.C354fs	NM_002772	NP_002763	P98073	ENTK_HUMAN			10	1091_1092	-			354			Extracellular (Potential).|MAM.		Q2NKL7	Frame_Shift_Ins	INS	ENST00000284885.3	37	c.1060_1061insT	CCDS13571.1																																																																																				0.332	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		27	93	NA	NA	NA	NA	27	93	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187549762	187549763	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7427-01A-11D-2078-08	TCGA-CV-7427-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3fdb4698-4a38-4a81-a403-d1ce5568c225	01aea99d-e331-4b02-a0cd-e9df66a08d9c	g.chr4:187549762_187549763insA	ENST00000441802.2	-	8	4687_4688	c.4478_4479insT	c.(4477-4479)ctgfs	p.L1493fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1493	Cadherin 13. {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						TACTGCTCTGCAGAGTGTAGAT	0.416										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.(4477-4479)CTGfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187549762_187549763insA	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.4479dupT	4.37:g.187549763_187549763dupA	ENSP00000406229:p.Leu1493fs	HNSCC(5;0.00058)					p.L1493fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			8	4666_4667	-			1493			Extracellular (Potential).|Cadherin 13.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.4478_4479insT	CCDS47177.1																																																																																				0.416	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		12	48	NA	NA	NA	NA	12	48	---	---	---	---
