#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
SPEN	23013	broad.mit.edu	37	1	16254612	16254612	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:16254612A>G	ENST00000375759.3	+	11	2081	c.1877A>G	c.(1876-1878)tAt>tGt	p.Y626C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	626	Arg-rich.|Tyr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCCTACGACTATAACCAAGAT	0.398																																						uc001axk.1		NA																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1876-1878)TAT>TGT		spen homolog, transcriptional regulator							74.0	75.0	75.0					1																	16254612		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16254612A>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1877A>G	1.37:g.16254612A>G	ENSP00000364912:p.Tyr626Cys					SPEN_uc010obp.1_Missense_Mutation_p.Y585C	p.Y626C	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2081	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	626			Arg-rich.|Tyr-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.1877A>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.243080	0.39697	.	.	ENSG00000065526	ENST00000375759	T	0.09630	2.96	4.54	4.54	0.55810	.	.	.	.	.	T	0.17066	0.0410	N	0.24115	0.695	0.43448	D	0.995634	D	0.89917	1.0	D	0.68192	0.956	T	0.01692	-1.1294	9	0.59425	D	0.04	-4.3548	9.7149	0.40268	0.8455:0.0:0.0:0.1545	.	626	Q96T58	MINT_HUMAN	C	626	ENSP00000364912:Y626C	ENSP00000364912:Y626C	Y	+	2	0	SPEN	16127199	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.876000	0.63079	2.034000	0.60081	0.460000	0.39030	TAT		0.398	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		19	24	0	0	0	0	19	24				
LAPTM5	7805	broad.mit.edu	37	1	31210496	31210496	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:31210496C>A	ENST00000294507.3	-	6	635	c.561G>T	c.(559-561)atG>atT	p.M187I	MIR4420_ENST00000583944.1_RNA	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	187					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)		p.M187I(1)		large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGATCATCATCTTGATGA	0.522																																						uc001bsc.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(559-561)ATG>ATT		lysosomal protein transmembrane 5							214.0	186.0	195.0					1																	31210496		2203	4300	6503	SO:0001583	missense	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31210496C>A	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.561G>T	1.37:g.31210496C>A	ENSP00000294507:p.Met187Ile						p.M187I	NM_006762	NP_006753	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	6	652	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	187			Helical; (Potential).		Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	ENST00000294507.3	37	c.561G>T	CCDS337.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282281	0.23392	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.46063	0.88	5.52	3.55	0.40652	.	0.657638	0.15794	N	0.244293	T	0.25865	0.0630	L	0.27053	0.805	0.24898	N	0.992121	B	0.02656	0.0	B	0.09377	0.004	T	0.14531	-1.0469	10	0.19147	T	0.46	-17.9865	7.0186	0.24902	0.0:0.7342:0.174:0.0918	.	187	Q13571	LAPM5_HUMAN	I	187	ENSP00000294507:M187I	ENSP00000294507:M187I	M	-	3	0	LAPTM5	30983083	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	1.312000	0.33574	1.328000	0.45358	0.563000	0.77884	ATG		0.522	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762		23	45	1	0	7.08e-08	7.76e-08	23	45				
AGO1	26523	broad.mit.edu	37	1	36372612	36372612	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:36372612T>G	ENST00000373204.4	+	12	1687	c.1474T>G	c.(1474-1476)Tat>Gat	p.Y492D	AGO1_ENST00000373206.1_Missense_Mutation_p.Y417D	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	492					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TTTCTGCAAATATGCACAGGG	0.537																																						uc001bzl.2		NA																	0				ovary(2)|skin(1)	3						c.(1474-1476)TAT>GAT		eukaryotic translation initiation factor 2C, 1							130.0	109.0	116.0					1																	36372612		2203	4300	6503	SO:0001583	missense	26523				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding	g.chr1:36372612T>G	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1474T>G	1.37:g.36372612T>G	ENSP00000362300:p.Tyr492Asp					EIF2C1_uc001bzk.2_Missense_Mutation_p.Y417D|EIF2C1_uc009vuy.2_RNA	p.Y492D	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN			12	1687	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	492					Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.1474T>G	CCDS398.1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.783437	0.70222	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.10288	2.89;2.89	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.34571	0.0902	M	0.86573	2.825	0.80722	D	1	P	0.42785	0.79	P	0.54706	0.759	T	0.15435	-1.0437	10	0.66056	D	0.02	-8.7879	15.7578	0.78051	0.0:0.0:0.0:1.0	.	492	Q9UL18	AGO1_HUMAN	D	417;492	ENSP00000362302:Y417D;ENSP00000362300:Y492D	ENSP00000362300:Y492D	Y	+	1	0	EIF2C1	36145199	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	7.963000	0.87922	2.120000	0.65058	0.528000	0.53228	TAT		0.537	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			37	52	0	0	0	0	37	52				
C1orf168	199920	broad.mit.edu	37	1	57257988	57257988	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:57257988G>T	ENST00000343433.6	-	2	578	c.498C>A	c.(496-498)gcC>gcA	p.A166A	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	166										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCAGATGGATGGCCTTACTTC	0.483																																						uc001cym.3		NA																	0				ovary(3)|skin(2)	5						c.(496-498)GCC>GCA		hypothetical protein LOC199920							102.0	99.0	100.0					1																	57257988		2203	4300	6503	SO:0001819	synonymous_variant	199920							g.chr1:57257988G>T	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.498C>A	1.37:g.57257988G>T						C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Silent_p.A166A	p.A166A	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			2	904	-			166					Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	37	c.498C>A	CCDS30729.1																																																																																				0.483	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		37	62	1	0	1.84e-18	2.14e-18	37	62				
MCOLN3	55283	broad.mit.edu	37	1	85491754	85491754	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:85491754G>T	ENST00000370589.2	-	9	1015	c.963C>A	c.(961-963)ttC>ttA	p.F321L	MCOLN3_ENST00000370587.1_3'UTR|MCOLN3_ENST00000474447.1_5'Flank|MCOLN3_ENST00000341115.4_Missense_Mutation_p.F265L|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	321					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AATGGAGGAGGAAAAAATTGA	0.363																																						uc001dkp.2		NA																	0				skin(1)	1						c.(961-963)TTC>TTA		mucolipin 3							51.0	49.0	49.0					1																	85491754		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85491754G>T	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.963C>A	1.37:g.85491754G>T	ENSP00000359621:p.Phe321Leu					MCOLN3_uc001dko.2_5'Flank|MCOLN3_uc001dkq.2_Missense_Mutation_p.F265L|MCOLN3_uc001dkr.2_3'UTR|MCOLN3_uc001dks.3_Missense_Mutation_p.F166L	p.F321L	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	9	1056	-			321					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.963C>A	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425549	0.62733	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.76839	-1.05;-1.05	6.16	5.25	0.73442	.	0.190372	0.64402	D	0.000019	T	0.64594	0.2612	L	0.61036	1.89	0.58432	D	0.999999	B;B;B	0.21688	0.003;0.005;0.059	B;B;B	0.20767	0.023;0.012;0.031	T	0.64219	-0.6459	10	0.30854	T	0.27	0.0365	15.6785	0.77349	0.0653:0.0:0.9347:0.0	.	321;265;321	A8K841;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	L	321;321;265;265	ENSP00000359621:F321L;ENSP00000342698:F265L	ENSP00000304843:F321L	F	-	3	2	MCOLN3	85264342	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.558000	0.45879	1.621000	0.50320	0.650000	0.86243	TTC		0.363	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		10	16	1	0	2.81e-09	3.1e-09	10	16				
DPYD	1806	broad.mit.edu	37	1	97915726	97915726	+	Silent	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:97915726G>C	ENST00000370192.3	-	14	1894	c.1794C>G	c.(1792-1794)ccC>ccG	p.P598P		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	598					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GGCCATACATGGGGCCAGAGG	0.448																																						uc001drv.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(1792-1794)CCC>CCG		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						95.0	92.0	93.0					1																	97915726		2203	4300	6503	SO:0001819	synonymous_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97915726G>C	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1794C>G	1.37:g.97915726G>C							p.P598P	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	14	1931	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	598					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	c.1794C>G	CCDS30777.1																																																																																				0.448	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		28	52	0	0	0	0	28	52				
TARS2	80222	broad.mit.edu	37	1	150478094	150478094	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:150478094C>A	ENST00000369064.3	+	17	1955	c.1921C>A	c.(1921-1923)Ctg>Atg	p.L641M	ECM1_ENST00000369049.4_5'Flank|ECM1_ENST00000346569.6_5'Flank|TARS2_ENST00000369054.2_Missense_Mutation_p.L511M|ECM1_ENST00000369047.4_5'Flank|TARS2_ENST00000606933.1_Missense_Mutation_p.L559M	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	641					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGCTGCAGGACTGGTCAGTGA	0.527																																						uc001euq.2		NA																	0				ovary(1)	1						c.(1921-1923)CTG>ATG		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						94.0	94.0	94.0					1																	150478094		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150478094C>A	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1921C>A	1.37:g.150478094C>A	ENSP00000358060:p.Leu641Met					TARS2_uc001eur.2_Missense_Mutation_p.L559M|TARS2_uc009wlt.2_Missense_Mutation_p.L267M|TARS2_uc009wls.2_Missense_Mutation_p.L511M|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank	p.L641M	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		17	1928	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		641					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.1921C>A	CCDS952.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978823	0.34942	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	D;D;D	0.83914	-1.78;-1.78;-1.78	4.53	3.61	0.41365	Anticodon-binding (3);	0.078885	0.52532	D	0.000070	D	0.83128	0.5187	L	0.56199	1.76	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76071	0.987;0.98;0.987	D	0.84151	0.0423	10	0.62326	D	0.03	-22.0589	8.3793	0.32461	0.0:0.8161:0.0:0.1839	.	511;366;641	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	M	511;641;366;366	ENSP00000358050:L511M;ENSP00000358060:L641M;ENSP00000358047:L366M	ENSP00000358047:L366M	L	+	1	2	TARS2	148744718	0.917000	0.31117	0.703000	0.30354	0.096000	0.18686	1.626000	0.37039	1.107000	0.41642	0.655000	0.94253	CTG		0.527	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		42	69	1	0	4.03e-16	4.66e-16	42	69				
VPS72	6944	broad.mit.edu	37	1	151150569	151150569	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:151150569C>T	ENST00000354473.4	-	5	651	c.615G>A	c.(613-615)cgG>cgA	p.R205R	TMOD4_ENST00000601585.1_5'Flank|VPS72_ENST00000496809.1_5'UTR|TMOD4_ENST00000416280.2_5'Flank			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	205					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGGGCACTTCCGCTTCTTAT	0.493																																					Pancreas(109;1131 2287 3209 24201)	uc001exe.1		NA																	0				breast(1)|pancreas(1)	2						c.(613-615)CGG>CGA		transcription factor-like 1							128.0	119.0	122.0					1																	151150569		2203	4300	6503	SO:0001819	synonymous_variant	6944				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151150569C>T	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.615G>A	1.37:g.151150569C>T						TMOD4_uc001exd.2_5'Flank|TMOD4_uc001exc.3_5'Flank|TMOD4_uc010pct.1_5'Flank|VPS72_uc001exf.1_Silent_p.R205R	p.R205R	NM_005997	NP_005988	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		5	658	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		205			Potential.		A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Silent	SNP	ENST00000354473.4	37	c.615G>A	CCDS59201.1																																																																																				0.493	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3	NM_005997		19	57	0	0	0	0	19	57				
FAM189B	10712	broad.mit.edu	37	1	155223908	155223908	+	Silent	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:155223908A>T	ENST00000361361.2	-	3	869	c.360T>A	c.(358-360)gcT>gcA	p.A120A	FAM189B_ENST00000472550.1_Intron|FAM189B_ENST00000368368.3_Silent_p.A101A|SCAMP3_ENST00000472397.1_5'Flank|FAM189B_ENST00000350210.2_Intron	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	120						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGCCAGTTGAGCATTCTTAC	0.532																																						uc001fjm.2		NA																	0				ovary(1)|breast(1)	2						c.(358-360)GCT>GCA		hypothetical protein LOC10712 isoform a							150.0	150.0	150.0					1																	155223908		2203	4300	6503	SO:0001819	synonymous_variant	10712					integral to membrane	WW domain binding	g.chr1:155223908A>T	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.360T>A	1.37:g.155223908A>T						RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_5'Flank|FAM189B_uc001fjn.2_Intron|FAM189B_uc001fjo.2_Silent_p.A101A|FAM189B_uc001fjp.2_Intron|FAM189B_uc001fjq.1_Silent_p.A120A	p.A120A	NM_006589	NP_006580	P81408	F189B_HUMAN			3	966	-			120					B1AVS5|Q8IXL3|Q9BR66	Silent	SNP	ENST00000361361.2	37	c.360T>A	CCDS1103.1																																																																																				0.532	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		83	111	0	0	0	0	83	111				
SLAMF6	114836	broad.mit.edu	37	1	160466073	160466073	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:160466073T>G	ENST00000368057.3	-	2	220	c.160A>C	c.(160-162)Act>Cct	p.T54P	SLAMF6_ENST00000368059.3_Missense_Mutation_p.T54P|SLAMF6_ENST00000368055.1_Intron			Q96DU3	SLAF6_HUMAN	SLAM family member 6	54	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AAAAGCCAAGTGATGAAGTTG	0.463																																						uc001fwe.1		NA																	0				ovary(1)|skin(1)	2						c.(160-162)ACT>CCT		activating NK receptor precursor							251.0	235.0	240.0					1																	160466073		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160466073T>G	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.160A>C	1.37:g.160466073T>G	ENSP00000357036:p.Thr54Pro					SLAMF6_uc001fwd.1_Missense_Mutation_p.T54P|SLAMF6_uc010pjh.1_Intron|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Intron	p.T54P	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	220	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		54			Extracellular (Potential).		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.160A>C	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.705715	0.48412	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	T;T	0.66280	-0.2;-0.2	4.95	-0.054	0.13816	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.780085	0.12231	N	0.487459	T	0.64382	0.2593	M	0.83223	2.63	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.70935	0.971;0.971	T	0.53114	-0.8484	10	0.44086	T	0.13	-5.7436	7.135	0.25523	0.0:0.4396:0.0:0.5604	.	54;54	Q96DU3;B2R8X8	SLAF6_HUMAN;.	P	54	ENSP00000357038:T54P;ENSP00000357036:T54P	ENSP00000357036:T54P	T	-	1	0	SLAMF6	158732697	0.000000	0.05858	0.013000	0.15412	0.039000	0.13416	-0.543000	0.06084	0.065000	0.16485	0.533000	0.62120	ACT		0.463	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		48	135	0	0	0	0	48	135				
SELP	6403	broad.mit.edu	37	1	169576215	169576215	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:169576215G>C	ENST00000263686.6	-	9	1528	c.1491C>G	c.(1489-1491)aaC>aaG	p.N497K	SELP_ENST00000367793.2_Missense_Mutation_p.N435K|SELP_ENST00000367788.2_Missense_Mutation_p.N435K|SELP_ENST00000367794.2_Missense_Mutation_p.N435K|SELP_ENST00000458599.2_Missense_Mutation_p.N435K|SELP_ENST00000367792.2_Missense_Mutation_p.N435K|SELP_ENST00000367786.2_Missense_Mutation_p.N435K|SELP_ENST00000367791.2_Missense_Mutation_p.N373K	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	497	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CAGAATTCCAGTTTCCAGTAG	0.453																																						uc001ggi.3		NA																	0				ovary(2)|skin(2)	4						c.(1489-1491)AAC>AAG		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						66.0	65.0	65.0					1																	169576215		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169576215G>C	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1491C>G	1.37:g.169576215G>C	ENSP00000263686:p.Asn497Lys					SELP_uc001ggh.2_Missense_Mutation_p.N332K|SELP_uc009wvr.2_Missense_Mutation_p.N497K	p.N497K	NM_003005	NP_002996	P16109	LYAM3_HUMAN			9	1556	-	all_hematologic(923;0.208)		497			Extracellular (Potential).|Sushi 5.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1491C>G	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.51|11.51	1.658991|1.658991	0.29515|0.29515	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T;T	.|0.63417	.|-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.24|5.24	2.13|2.13	0.27403|0.27403	.|Complement control module (2);Sushi/SCR/CCP (3);	.|1.116770	.|0.06666	.|N	.|0.765246	T|T	0.30262|0.30262	0.0759|0.0759	L|L	0.33624|0.33624	1.015|1.015	0.09310|0.09310	N|N	0.999992|0.999992	.|B;B;B	.|0.26318	.|0.146;0.146;0.12	.|B;B;B	.|0.39935	.|0.314;0.232;0.167	T|T	0.45629|0.45629	-0.9248|-0.9248	5|10	.|0.06365	.|T	.|0.9	-2.4319|-2.4319	7.1164|7.1164	0.25418|0.25418	0.1648:0.1406:0.6946:0.0|0.1648:0.1406:0.6946:0.0	.|.	.|497;497;497	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	V|K	435|373;497;496;435;497;497;435;435;435;373;435;435;420	.|ENSP00000263686:N497K;ENSP00000356767:N435K;ENSP00000356768:N435K;ENSP00000356766:N435K;ENSP00000356765:N373K;ENSP00000356762:N435K;ENSP00000356760:N435K	.|ENSP00000263686:N497K	L|N	-|-	1|3	2|2	SELP|SELP	167842839|167842839	0.006000|0.006000	0.16342|0.16342	0.689000|0.689000	0.30133|0.30133	0.043000|0.043000	0.13939|0.13939	-0.241000|-0.241000	0.08940|0.08940	0.700000|0.700000	0.31782|0.31782	0.650000|0.650000	0.86243|0.86243	CTG|AAC		0.453	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		38	40	0	0	0	0	38	40				
SMG7	9887	broad.mit.edu	37	1	183518407	183518407	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:183518407G>T	ENST00000347615.2	+	18	2926	c.2807G>T	c.(2806-2808)gGa>gTa	p.G936V	SMG7_ENST00000367537.3_Missense_Mutation_p.G969V|SMG7_ENST00000515829.2_Missense_Mutation_p.G890V|SMG7_ENST00000456731.2_Missense_Mutation_p.G848V|SMG7_ENST00000507469.1_Missense_Mutation_p.G940V|SMG7_ENST00000508461.1_Missense_Mutation_p.G944V	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	936	Ser-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCCCTCACCGGATTCTCTCTC	0.403																																						uc001gqg.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(2806-2808)GGA>GTA		SMG-7 homolog isoform 1							127.0	115.0	119.0					1																	183518407		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183518407G>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2807G>T	1.37:g.183518407G>T	ENSP00000340766:p.Gly936Val					SMG7_uc001gqf.2_Missense_Mutation_p.G940V|SMG7_uc001gqh.2_Missense_Mutation_p.G890V|SMG7_uc001gqi.2_Missense_Mutation_p.G848V|SMG7_uc010poc.1_Missense_Mutation_p.G944V	p.G936V	NM_173156	NP_775179	Q92540	SMG7_HUMAN			18	2929	+			936			Ser-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.2807G>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472177	0.84533	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.75	5.75	0.90469	.	0.457400	0.23696	N	0.045472	T	0.59742	0.2216	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.96;1.0;1.0	D;D;P;D;D	0.87578	0.998;0.973;0.693;0.982;0.998	T	0.60591	-0.7233	10	0.54805	T	0.06	-10.3112	19.9564	0.97221	0.0:0.0:1.0:0.0	.	944;848;890;936;940	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	V	848;969;944;936;940;890	ENSP00000407629:G848V;ENSP00000356507:G969V;ENSP00000426915:G944V;ENSP00000340766:G936V;ENSP00000425133:G940V;ENSP00000421358:G890V	ENSP00000340766:G936V	G	+	2	0	SMG7	181785030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.639000	0.74314	2.708000	0.92522	0.650000	0.86243	GGA		0.403	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		18	26	1	0	0.000132079	0.000139008	18	26				
CR1	1378	broad.mit.edu	37	1	207760880	207760880	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:207760880G>A	ENST00000367049.4	+	34	5680	c.5680G>A	c.(5680-5682)Gtc>Atc	p.V1894I	CR1_ENST00000400960.2_Missense_Mutation_p.V1444I|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.V1444I|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.V1444I|CR1_ENST00000367053.1_Missense_Mutation_p.V1444I	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1444	Sushi 29. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGAAAACTTGGTCTGGTCAAG	0.453																																						uc001hfy.2		NA																	0				ovary(3)	3						c.(4330-4332)GTC>ATC		complement receptor 1 isoform F precursor							122.0	115.0	117.0					1																	207760880		1867	4090	5957	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207760880G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5680G>A	1.37:g.207760880G>A	ENSP00000356016:p.Val1894Ile					CR1_uc009xcl.1_Missense_Mutation_p.V994I|CR1_uc001hfx.2_Missense_Mutation_p.V1894I	p.V1444I	NM_000573	NP_000564	P17927	CR1_HUMAN			26	4470	+			1444			Sushi 22.|Extracellular (Potential).		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.4330G>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.820929	0.50633	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	3.29	1.33	0.21861	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.69869	0.3159	M	0.62723	1.935	0.19300	N	0.99997	B;D;D	0.63880	0.212;0.991;0.993	B;D;D	0.72982	0.093;0.944;0.979	T	0.55179	-0.8181	9	0.37606	T	0.19	.	4.5632	0.12170	0.1288:0.2286:0.6426:0.0	.	1444;1444;1894	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	I	1444;1444;1444;1444;994;1894	ENSP00000356019:V1444I;ENSP00000356018:V1444I;ENSP00000356020:V1444I;ENSP00000383744:V1444I;ENSP00000436139:V994I;ENSP00000356016:V1894I	ENSP00000356016:V1894I	V	+	1	0	CR1	205827503	0.000000	0.05858	0.966000	0.40874	0.941000	0.58515	-0.127000	0.10547	0.358000	0.24211	-0.136000	0.14681	GTC		0.453	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		45	81	0	0	0	0	45	81				
CD34	947	broad.mit.edu	37	1	208072364	208072364	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:208072364G>A	ENST00000310833.7	-	3	791	c.470C>T	c.(469-471)cCc>cTc	p.P157L	CD34_ENST00000356522.4_Missense_Mutation_p.P157L|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Intron	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	157					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)	p.P157H(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GGGTTTAGTGGGAGATGTTGC	0.468																																						uc001hgw.1		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(1)	1						c.(469-471)CCC>CTC		CD34 antigen isoform a							312.0	284.0	293.0					1																	208072364		2203	4300	6503	SO:0001583	missense	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208072364G>A	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.470C>T	1.37:g.208072364G>A	ENSP00000310036:p.Pro157Leu					CD34_uc001hgx.1_Missense_Mutation_p.P157L|CD34_uc010psj.1_Intron	p.P157L	NM_001025109	NP_001020280	P28906	CD34_HUMAN			3	728	-			157			Extracellular (Potential).		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	c.470C>T	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801469	0.50315	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367037	T;T	0.11604	2.76;2.76	4.29	-1.08	0.09936	.	1.041530	0.07518	N	0.910144	T	0.09818	0.0241	L	0.50333	1.59	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.41288	-0.9517	10	0.72032	D	0.01	5.9304	3.0567	0.06187	0.2792:0.0:0.3999:0.3208	.	157;157	P28906-2;P28906	.;CD34_HUMAN	L	157;157;127	ENSP00000310036:P157L;ENSP00000348916:P157L	ENSP00000310036:P157L	P	-	2	0	CD34	206138987	0.002000	0.14202	0.000000	0.03702	0.098000	0.18820	0.225000	0.17757	-0.285000	0.09089	0.591000	0.81541	CCC		0.468	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		78	185	0	0	0	0	78	185				
SLC30A1	7779	broad.mit.edu	37	1	211751730	211751730	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:211751730G>A	ENST00000367001.4	-	1	354	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	75					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CCTCGGCTCGGATCCAGCCGA	0.662																																						uc001hio.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(223-225)ATC>ATT		solute carrier family 30 (zinc transporter),							37.0	45.0	42.0					1																	211751730		2203	4300	6503	SO:0001819	synonymous_variant	7779				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity	g.chr1:211751730G>A	AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.225C>T	1.37:g.211751730G>A							p.I75I	NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)	1	370	-			75			Cytoplasmic (Potential).		Q0VAK9|Q9BZF6	Silent	SNP	ENST00000367001.4	37	c.225C>T	CCDS1499.1																																																																																				0.662	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2			16	20	0	0	0	0	16	20				
AIDA	64853	broad.mit.edu	37	1	222843263	222843263	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:222843263T>C	ENST00000340020.6	-	10	1099	c.893A>G	c.(892-894)cAt>cGt	p.H298R	AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000541237.1_Missense_Mutation_p.H274R|AIDA_ENST00000355727.2_Missense_Mutation_p.H216R	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	298					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TTGATGTAGATGAAGATAAAG	0.353																																						uc001hnn.2		NA																	0					0						c.(892-894)CAT>CGT		axin interactor, dorsalization associated							75.0	72.0	73.0					1																	222843263		2203	4296	6499	SO:0001583	missense	64853				dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity			g.chr1:222843263T>C	BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"""axin interaction partner and dorsalization antagonist"""	612375	"""chromosome 1 open reading frame 80"""	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.893A>G	1.37:g.222843263T>C	ENSP00000339161:p.His298Arg					AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Missense_Mutation_p.H274R	p.H298R	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN			10	1098	-			298					A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Missense_Mutation	SNP	ENST00000340020.6	37	c.893A>G	CCDS1533.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.603464	0.46423	.	.	ENSG00000186063	ENST00000340020;ENST00000355727;ENST00000541237	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.77018	0.4069	M	0.68952	2.095	0.80722	D	1	D;D	0.61697	0.987;0.99	D;D	0.68765	0.933;0.96	T	0.77159	-0.2690	9	0.46703	T	0.11	.	16.315	0.82915	0.0:0.0:0.0:1.0	.	274;298	F5H715;Q96BJ3	.;AIDA_HUMAN	R	298;216;274	.	ENSP00000339161:H298R	H	-	2	0	AIDA	220909886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.857000	0.86963	2.250000	0.74265	0.533000	0.62120	CAT		0.353	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091818.1	NM_022831		18	31	0	0	0	0	18	31				
ZNF678	339500	broad.mit.edu	37	1	227842404	227842404	+	Silent	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:227842404A>G	ENST00000343776.5	+	4	798	c.453A>G	c.(451-453)aaA>aaG	p.K151K	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Silent_p.K206K	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	151					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)				CTGGAGAGAAACCCTACAAAT	0.353																																						uc001hqw.1		NA																	0				pancreas(1)	1						c.(451-453)AAA>AAG		zinc finger protein 678							55.0	65.0	62.0					1																	227842404		2201	4299	6500	SO:0001819	synonymous_variant	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227842404A>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.453A>G	1.37:g.227842404A>G						ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	p.K151K	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN			4	798	+		Prostate(94;0.0885)	206					Q8IVQ9	Silent	SNP	ENST00000343776.5	37	c.453A>G																																																																																					0.353	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		26	78	0	0	0	0	26	78				
RYR2	6262	broad.mit.edu	37	1	237802492	237802492	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr1:237802492G>T	ENST00000366574.2	+	46	7423	c.7106G>T	c.(7105-7107)aGt>aTt	p.S2369I	RYR2_ENST00000542537.1_Missense_Mutation_p.S2353I|RYR2_ENST00000360064.6_Missense_Mutation_p.S2367I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2369	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCGGATCCAGTAAAACACTG	0.418																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7105-7107)AGT>ATT		cardiac muscle ryanodine receptor							65.0	65.0	65.0					1																	237802492		1908	4110	6018	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237802492G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7106G>T	1.37:g.237802492G>T	ENSP00000355533:p.Ser2369Ile						p.S2369I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		46	7226	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2369			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7106G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023913	0.35701	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97888	-4.59;-4.59;-4.59	5.35	4.43	0.53597	.	0.067313	0.56097	D	0.000040	D	0.94545	0.8243	L	0.39898	1.24	0.80722	D	1	B	0.25955	0.138	B	0.17722	0.019	D	0.92012	0.5619	10	0.44086	T	0.13	.	10.3531	0.43948	0.0732:0.1367:0.7901:0.0	.	2369	Q92736	RYR2_HUMAN	I	2369;2367;2353	ENSP00000355533:S2369I;ENSP00000353174:S2367I;ENSP00000443798:S2353I	ENSP00000353174:S2367I	S	+	2	0	RYR2	235869115	1.000000	0.71417	0.641000	0.29422	0.899000	0.52679	3.450000	0.52957	1.221000	0.43506	0.561000	0.74099	AGT		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	20	1	0	2.01e-06	2.16e-06	7	20				
ITGA8	8516	broad.mit.edu	37	10	15726024	15726024	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:15726024C>A	ENST00000378076.3	-	4	900	c.547G>T	c.(547-549)Gag>Tag	p.E183*		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	183					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGAGAGAACTCGGCATAGGCG	0.458																																						uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(547-549)GAG>TAG		integrin, alpha 8 precursor							98.0	99.0	99.0					10																	15726024		2203	4300	6503	SO:0001587	stop_gained	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15726024C>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.547G>T	10.37:g.15726024C>A	ENSP00000367316:p.Glu183*					ITGA8_uc010qcb.1_Nonsense_Mutation_p.E183*	p.E183*	NM_003638	NP_003629	P53708	ITA8_HUMAN			4	547	-			183			Extracellular (Potential).|FG-GAP 2.		B0YJ31|Q5VX94	Nonsense_Mutation	SNP	ENST00000378076.3	37	c.547G>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	42	9.408598	0.99163	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.0313	0.97540	0.0:1.0:0.0:0.0	.	.	.	.	X	183	.	ENSP00000367316:E183X	E	-	1	0	ITGA8	15766030	1.000000	0.71417	0.968000	0.41197	0.866000	0.49608	7.487000	0.81328	2.746000	0.94184	0.655000	0.94253	GAG		0.458	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		16	42	1	0	3.46e-05	3.68e-05	16	42				
SKIDA1	387640	broad.mit.edu	37	10	21804965	21804965	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:21804965C>G	ENST00000449193.2	-	4	4039	c.1787G>C	c.(1786-1788)cGa>cCa	p.R596P	SKIDA1_ENST00000444772.3_Missense_Mutation_p.R517P	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	515						nucleus (GO:0005634)											CCTAGCCTCTCGGAGTATTCT	0.438																																						uc009xkd.2		NA																	0				ovary(1)	1						c.(1786-1788)CGA>CCA		hypothetical protein LOC387640							99.0	100.0	100.0					10																	21804965		1897	4107	6004	SO:0001583	missense	387640					nucleus	nucleotide binding	g.chr10:21804965C>G	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1787G>C	10.37:g.21804965C>G	ENSP00000410041:p.Arg596Pro					uc001iqp.1_Intron	p.R596P	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			4	4040	-			515					B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.1787G>C	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465249	0.43839	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	6.03	6.03	0.97812	.	0.182500	0.47852	D	0.000208	T	0.54013	0.1832	L	0.34521	1.04	0.39865	D	0.97343	P	0.35872	0.525	B	0.38803	0.282	T	0.56347	-0.7994	9	0.56958	D	0.05	-12.4922	19.6123	0.95613	0.0:1.0:0.0:0.0	.	596	E9PAX1	.	P	596;517	.	ENSP00000442432:R517P	R	-	2	0	C10orf140	21844971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.167000	0.64972	2.886000	0.99085	0.644000	0.83932	CGA		0.438	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		16	81	0	0	0	0	16	81				
ANKRD26	22852	broad.mit.edu	37	10	27366291	27366291	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:27366291C>T	ENST00000376087.4	-	9	1218	c.1053G>A	c.(1051-1053)tcG>tcA	p.S351S	ANKRD26_ENST00000466890.1_5'UTR|ANKRD26_ENST00000436985.2_Silent_p.S400S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	351					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GGTTTGCTAACGACTTGTGGG	0.403																																						uc001ith.2		NA																	0				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(1051-1053)TCG>TCA		ankyrin repeat domain 26							219.0	198.0	204.0					10																	27366291		1844	4112	5956	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27366291C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1053G>A	10.37:g.27366291C>T						ANKRD26_uc001itg.2_Silent_p.S70S|ANKRD26_uc009xku.1_Silent_p.S351S	p.S351S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			9	1225	-			351					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.1053G>A	CCDS41499.1																																																																																				0.403	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			38	58	0	0	0	0	38	58				
ARMC4	55130	broad.mit.edu	37	10	28196653	28196653	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:28196653G>A	ENST00000305242.5	-	17	2641	c.2549C>T	c.(2548-2550)cCt>cTt	p.P850L	ARMC4_ENST00000545014.1_Missense_Mutation_p.P375L|ARMC4_ENST00000537576.1_Missense_Mutation_p.P542L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	850					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTCTGGGTGAGGATTTTTCAG	0.443																																						uc009xky.2		NA																	0				ovary(4)|skin(2)	6						c.(2548-2550)CCT>CTT		armadillo repeat containing 4							128.0	111.0	117.0					10																	28196653		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28196653G>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2549C>T	10.37:g.28196653G>A	ENSP00000306410:p.Pro850Leu					ARMC4_uc010qds.1_Missense_Mutation_p.P375L|ARMC4_uc010qdt.1_Missense_Mutation_p.P542L|ARMC4_uc001itz.2_Missense_Mutation_p.P850L	p.P850L	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			17	2647	-			850			ARM 6.		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.2549C>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705398	0.89018	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;D	0.94793	-3.52;-3.52;-3.52	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.048080	0.85682	D	0.000000	D	0.94298	0.8168	M	0.63843	1.955	0.80722	D	1	B;P	0.47841	0.382;0.901	B;B	0.44108	0.146;0.441	D	0.94616	0.7809	10	0.62326	D	0.03	-19.9094	19.5529	0.95328	0.0:0.0:1.0:0.0	.	375;850	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	L	542;850;375	ENSP00000443208:P542L;ENSP00000306410:P850L;ENSP00000441076:P375L	ENSP00000306410:P850L	P	-	2	0	ARMC4	28236659	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	9.565000	0.98154	2.621000	0.88768	0.655000	0.94253	CCT		0.443	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		18	40	0	0	0	0	18	40				
CSGALNACT2	55454	broad.mit.edu	37	10	43650762	43650762	+	Silent	SNP	G	G	A	rs577874758		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:43650762G>A	ENST00000374466.3	+	2	500	c.165G>A	c.(163-165)gaG>gaA	p.E55E	CSGALNACT2_ENST00000374464.1_Silent_p.E55E	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	55					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATGGTAAAGAGTATTATCAAG	0.418													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18778	0.0		0.0	False		,,,				2504	0.0					uc001jan.2		NA																	0				ovary(1)	1						c.(163-165)GAG>GAA		chondroitin sulfate							79.0	73.0	75.0					10																	43650762		2203	4300	6503	SO:0001819	synonymous_variant	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43650762G>A	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.165G>A	10.37:g.43650762G>A						CSGALNACT2_uc001jam.1_Silent_p.E55E	p.E55E	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN			2	500	+			55			Lumenal (Potential).		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	c.165G>A	CCDS7201.1																																																																																				0.418	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		15	44	0	0	0	0	15	44				
GPRIN2	9721	broad.mit.edu	37	10	46999149	46999149	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:46999149G>C	ENST00000374317.1	+	3	542	c.269G>C	c.(268-270)tGg>tCg	p.W90S	GPRIN2_ENST00000374314.4_Missense_Mutation_p.W90S	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	90										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGAGGCCACTGGTGGAGCAGC	0.667																																						uc001jec.2		NA																	0					0						c.(268-270)TGG>TCG		G protein-regulated inducer of neurite outgrowth							29.0	35.0	33.0					10																	46999149		2186	4278	6464	SO:0001583	missense	9721							g.chr10:46999149G>C	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.269G>C	10.37:g.46999149G>C	ENSP00000363436:p.Trp90Ser					GPRIN2_uc010qfq.1_5'Flank	p.W90S	NM_014696	NP_055511	O60269	GRIN2_HUMAN			3	404	+			90					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.269G>C	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563384	0.27915	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03124	4.04;4.04	5.47	4.52	0.55395	.	0.000000	0.42821	D	0.000642	T	0.05914	0.0154	M	0.65975	2.015	0.54753	D	0.999987	P	0.45126	0.851	B	0.43301	0.415	T	0.35549	-0.9784	10	0.07482	T	0.82	-15.2925	12.8908	0.58069	0.0:0.1639:0.8361:0.0	.	90	O60269	GRIN2_HUMAN	S	90	ENSP00000363436:W90S;ENSP00000363433:W90S	ENSP00000363433:W90S	W	+	2	0	GPRIN2	46419155	0.003000	0.15002	1.000000	0.80357	0.919000	0.55068	0.312000	0.19397	2.751000	0.94390	0.650000	0.86243	TGG		0.667	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		9	58	0	0	0	0	9	58				
SUPV3L1	6832	broad.mit.edu	37	10	70962246	70962246	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:70962246C>G	ENST00000359655.4	+	12	1630	c.1570C>G	c.(1570-1572)Ctc>Gtc	p.L524V		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	524					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						TGCCTACCATCTCCCTGATGC	0.373																																						uc001jpe.1		NA																	0				urinary_tract(1)|ovary(1)	2						c.(1570-1572)CTC>GTC		suppressor of var1, 3-like 1 precursor							160.0	142.0	148.0					10																	70962246		2203	4300	6503	SO:0001583	missense	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70962246C>G	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.1570C>G	10.37:g.70962246C>G	ENSP00000352678:p.Leu524Val					SUPV3L1_uc010qjd.1_Missense_Mutation_p.L393V	p.L524V	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN			12	1625	+			524					A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	c.1570C>G	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519448	0.85495	.	.	ENSG00000156502	ENST00000359655	T	0.46451	0.87	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	M	0.85945	2.785	0.80722	D	1	P	0.52316	0.952	P	0.58577	0.841	T	0.72649	-0.4229	10	0.62326	D	0.03	-3.7716	18.2078	0.89860	0.0:1.0:0.0:0.0	.	524	Q8IYB8	SUV3_HUMAN	V	524	ENSP00000352678:L524V	ENSP00000352678:L524V	L	+	1	0	SUPV3L1	70632252	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.778000	0.68940	2.292000	0.77174	0.462000	0.41574	CTC		0.373	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		23	53	0	0	0	0	23	53				
HTR7	3363	broad.mit.edu	37	10	92509226	92509226	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:92509226G>C	ENST00000336152.3	-	2	691	c.665C>G	c.(664-666)gCt>gGt	p.A222G	HTR7_ENST00000371719.2_Missense_Mutation_p.A222G|HTR7_ENST00000277874.6_Missense_Mutation_p.A222G|HTR7_ENST00000371721.3_Missense_Mutation_p.A222G	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	222					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TACATTCTGAGCCCATCCAAA	0.483																																						uc001kha.2		NA																	0				ovary(1)	1						c.(664-666)GCT>GGT		5-hydroxytryptamine receptor 7 isoform d	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						101.0	107.0	105.0					10																	92509226		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92509226G>C	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.665C>G	10.37:g.92509226G>C	ENSP00000337949:p.Ala222Gly					HTR7_uc001kgz.2_Missense_Mutation_p.A222G|HTR7_uc001khb.2_Missense_Mutation_p.A222G	p.A222G	NM_019859	NP_062873	P34969	5HT7R_HUMAN			2	908	-			222			Helical; Name=4; (By similarity).		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.665C>G	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924793	0.52759	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	N	0.25286	0.73	0.80722	D	1	B;B	0.29955	0.263;0.259	B;B	0.36418	0.224;0.066	T	0.05468	-1.0883	10	0.20046	T	0.44	.	19.1045	0.93287	0.0:0.0:1.0:0.0	.	222;222	P34969;P34969-2	5HT7R_HUMAN;.	G	222	ENSP00000337949:A222G;ENSP00000277874:A222G;ENSP00000360784:A222G;ENSP00000360786:A222G	ENSP00000277874:A222G	A	-	2	0	HTR7	92499206	1.000000	0.71417	0.998000	0.56505	0.765000	0.43378	9.657000	0.98554	2.756000	0.94617	0.650000	0.86243	GCT		0.483	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		40	58	0	0	0	0	40	58				
CASP7	840	broad.mit.edu	37	10	115481445	115481445	+	Missense_Mutation	SNP	G	G	A	rs566556942	byFrequency	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:115481445G>A	ENST00000345633.4	+	5	667	c.283G>A	c.(283-285)Gag>Aag	p.E95K	CASP7_ENST00000369331.4_Missense_Mutation_p.E95K|CASP7_ENST00000369321.2_Missense_Mutation_p.E128K|RP11-211N11.5_ENST00000448834.1_RNA|CASP7_ENST00000468790.1_3'UTR|CASP7_ENST00000452490.2_Missense_Mutation_p.E70K|CASP7_ENST00000369315.1_Missense_Mutation_p.E95K|CASP7_ENST00000369318.3_Missense_Mutation_p.E95K	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	95					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		CAAAGATGCCGAGGCGCTCTT	0.502													G|||	2	0.000399361	0.0	0.0	5008	,	,		19800	0.002		0.0	False		,,,				2504	0.0					uc001lan.2		NA																	0				ovary(1)	1						c.(283-285)GAG>AAG		caspase 7 isoform alpha							213.0	180.0	191.0					10																	115481445		2203	4300	6503	SO:0001583	missense	840				activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr10:115481445G>A	U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"""Caspases"""	1508	protein-coding gene	gene with protein product		601761	"""caspase 7, apoptosis-related cysteine protease"""			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.283G>A	10.37:g.115481445G>A	ENSP00000298701:p.Glu95Lys					CASP7_uc001lam.2_Missense_Mutation_p.E95K|CASP7_uc001lao.2_Missense_Mutation_p.E128K|CASP7_uc001lap.2_Missense_Mutation_p.E95K|CASP7_uc001laq.2_Missense_Mutation_p.E95K|CASP7_uc010qsa.1_Missense_Mutation_p.E180K|CASP7_uc010qsb.1_Missense_Mutation_p.E70K	p.E95K	NM_033339	NP_203125	P55210	CASP7_HUMAN		Epithelial(162;0.012)|all cancers(201;0.014)	4	457	+		Colorectal(252;0.0946)|Breast(234;0.188)	95					B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Missense_Mutation	SNP	ENST00000345633.4	37	c.283G>A	CCDS7581.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717159	0.48622	.	.	ENSG00000165806	ENST00000429617;ENST00000369331;ENST00000369321;ENST00000345633;ENST00000369318;ENST00000442393;ENST00000369319;ENST00000369316;ENST00000369315;ENST00000452490	T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.91	4.99	0.66335	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.360500	0.35525	N	0.003159	T	0.15782	0.0380	L	0.28014	0.82	0.29414	N	0.861034	P;B;D;D;D	0.76494	0.944;0.114;0.962;0.976;0.999	B;B;B;B;P	0.47251	0.23;0.033;0.203;0.23;0.542	T	0.02654	-1.1128	10	0.08381	T	0.77	.	10.3584	0.43977	0.0697:0.1359:0.7944:0.0	.	70;103;128;95;95	B4DQU7;B4DWA2;P55210-3;P55210;P55210-2	.;.;.;CASP7_HUMAN;.	K	95;95;128;95;95;95;95;95;95;70	ENSP00000400094:E95K;ENSP00000358337:E95K;ENSP00000358327:E128K;ENSP00000298701:E95K;ENSP00000358324:E95K;ENSP00000358321:E95K;ENSP00000398107:E70K	ENSP00000298701:E95K	E	+	1	0	CASP7	115471435	1.000000	0.71417	0.950000	0.38849	0.934000	0.57294	6.265000	0.72534	1.460000	0.47911	0.462000	0.41574	GAG		0.502	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	NM_033338		39	71	0	0	0	0	39	71				
MMP21	118856	broad.mit.edu	37	10	127462419	127462420	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr10:127462419_127462420GA>TT	ENST00000368808.3	-	2	676_677	c.677_678TC>AA	c.(676-678)aTC>aAA	p.I226K		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	226					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	AGCCCAGCTTGATGTCGACCGC	0.728																																						uc001liu.2		NA																	0				ovary(2)	2						c.(676-678)ATC>AAA		matrix metalloproteinase 21 preproprotein																																				SO:0001583	missense	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127462419_127462420GA>TT	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.677_678delinsTT	10.37:g.127462419_127462420delinsTT	ENSP00000357798:p.Ile226Lys						p.I226K	NM_147191	NP_671724	Q8N119	MMP21_HUMAN			2	677_678	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	226					Q5VZP9|Q8NG02	Missense_Mutation	DNP	ENST00000368808.3	37	c.677_678TC>AA	CCDS7647.1																																																																																				0.728	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			23	40	0	0	0	0	23	40				
SAA4	6291	broad.mit.edu	37	11	18257396	18257396	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:18257396C>T	ENST00000278222.4	-	2	258	c.78G>A	c.(76-78)aaG>aaA	p.K26K	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2	P35542	SAA4_HUMAN	serum amyloid A4, constitutive	26					acute-phase response (GO:0006953)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GGAGAGCCTCCTTGAAAAACG	0.493																																						uc001mny.2		NA																	0					0						c.(76-78)AAG>AAA		serum amyloid A4, constitutive precursor							132.0	128.0	129.0					11																	18257396		2199	4293	6492	SO:0001819	synonymous_variant	6291				acute-phase response	high-density lipoprotein particle		g.chr11:18257396C>T	M81349	CCDS7832.1	11p15.1-p14	2008-07-21			ENSG00000148965	ENSG00000148965			10516	protein-coding gene	gene with protein product		104752				8325654	Standard	NM_006512		Approved	C-SAA, CSAA		P35542	OTTHUMG00000166483	ENST00000278222.4:c.78G>A	11.37:g.18257396C>T							p.K26K	NM_006512	NP_006503	P35542	SAA4_HUMAN			2	174	-			26					Q6FHJ4	Silent	SNP	ENST00000278222.4	37	c.78G>A	CCDS7832.1																																																																																				0.493	SAA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389988.1	NM_006512		24	79	0	0	0	0	24	79				
NAV2	89797	broad.mit.edu	37	11	20083856	20083856	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:20083856A>G	ENST00000396087.3	+	22	5102	c.5003A>G	c.(5002-5004)cAt>cGt	p.H1668R	NAV2_ENST00000527559.2_Missense_Mutation_p.H1597R|NAV2_ENST00000349880.4_Missense_Mutation_p.H1612R|NAV2_ENST00000540292.1_Missense_Mutation_p.H1599R|NAV2_ENST00000311043.8_Missense_Mutation_p.H676R|NAV2_ENST00000533917.1_Missense_Mutation_p.H676R|NAV2_ENST00000396085.1_Missense_Mutation_p.H1612R|NAV2_ENST00000360655.4_Missense_Mutation_p.H1548R	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1668	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TTAATAGTTCATGGATCCTCA	0.423																																						uc010rdm.1		NA																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(5002-5004)CAT>CGT		neuron navigator 2 isoform 2							105.0	99.0	101.0					11																	20083856		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20083856A>G	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5003A>G	11.37:g.20083856A>G	ENSP00000379396:p.His1668Arg					NAV2_uc001mpp.2_Missense_Mutation_p.H1548R|NAV2_uc001mpr.3_Missense_Mutation_p.H1612R|NAV2_uc001mpt.2_Missense_Mutation_p.H661R|NAV2_uc009yhx.2_Missense_Mutation_p.H676R|NAV2_uc009yhy.1_Missense_Mutation_p.H574R|NAV2_uc009yhz.2_Missense_Mutation_p.H257R|NAV2_uc001mpu.2_Missense_Mutation_p.H50R	p.H1668R	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			22	5364	+			1668			Ser-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5003A>G	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435627	0.83885	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.39056	1.28;1.38;1.38;1.2;1.1;1.1;2.94;1.36;2.94	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000005	T	0.64929	0.2643	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.996;0.997;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.996;0.99;0.993;1.0;0.997	T	0.66296	-0.5959	9	.	.	.	.	15.8929	0.79315	1.0:0.0:0.0:0.0	.	1612;1668;676;661;1612;1548	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	R	1548;1612;1612;1668;1597;1599;676;661;676;661	ENSP00000353871:H1548R;ENSP00000379394:H1612R;ENSP00000309577:H1612R;ENSP00000379396:H1668R;ENSP00000435395:H1597R;ENSP00000443489:H1599R;ENSP00000437316:H676R;ENSP00000437136:H661R;ENSP00000312169:H676R	.	H	+	2	0	NAV2	20040432	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	8.414000	0.90238	2.204000	0.70986	0.524000	0.50904	CAT		0.423	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		11	50	0	0	0	0	11	50				
TRIM48	79097	broad.mit.edu	37	11	55032387	55032387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:55032387C>T	ENST00000417545.2	+	2	142	c.56C>T	c.(55-57)tCt>tTt	p.S19F		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	3						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AACATGAATTCTGGAATCTCG	0.463																																						uc010rid.1		NA																	0					0						c.(55-57)TCT>TTT		tripartite motif-containing 48							130.0	143.0	139.0					11																	55032387		2183	4246	6429	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032387C>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.56C>T	11.37:g.55032387C>T	ENSP00000402414:p.Ser19Phe						p.S19F	NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN			2	142	+			3					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.56C>T	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	.	10.51	1.370057	0.24771	.	.	ENSG00000150244	ENST00000417545	T	0.74421	-0.84	0.596	0.596	0.17496	.	.	.	.	.	T	0.81522	0.4840	M	0.69358	2.11	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.67492	-0.5657	9	0.87932	D	0	.	7.1377	0.25537	0.0:0.9999:0.0:1.0E-4	.	3	Q8IWZ4	TRI48_HUMAN	F	19	ENSP00000402414:S19F	ENSP00000402414:S19F	S	+	2	0	TRIM48	54788963	0.028000	0.19301	0.003000	0.11579	0.005000	0.04900	0.321000	0.19558	0.629000	0.30376	0.413000	0.27773	TCT		0.463	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			89	188	0	0	0	0	89	188				
OR5D16	390144	broad.mit.edu	37	11	55606573	55606573	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:55606573C>G	ENST00000378396.1	+	1	346	c.346C>G	c.(346-348)Cta>Gta	p.L116V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGAATTAATTCTATTTGCGGT	0.438																																						uc010rio.1		NA																	0				ovary(4)|skin(1)	5						c.(346-348)CTA>GTA		olfactory receptor, family 5, subfamily D,							124.0	121.0	122.0					11																	55606573		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606573C>G	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.346C>G	11.37:g.55606573C>G	ENSP00000367649:p.Leu116Val						p.L116V	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	346	+		all_epithelial(135;0.208)	116			Helical; Name=3; (Potential).		Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.346C>G	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	10.56	1.383223	0.25031	.	.	ENSG00000205029	ENST00000378396	T	0.03553	3.89	4.38	-5.92	0.02261	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.07773	0.0195	M	0.75615	2.305	0.09310	N	1	B	0.31769	0.339	P	0.47015	0.534	T	0.48525	-0.9028	9	0.56958	D	0.05	-4.4284	1.8219	0.03112	0.1125:0.3348:0.2233:0.3294	.	116	Q8NGK9	OR5DG_HUMAN	V	116	ENSP00000367649:L116V	ENSP00000367649:L116V	L	+	1	2	OR5D16	55363149	0.000000	0.05858	0.000000	0.03702	0.810000	0.45777	-2.278000	0.01159	-0.750000	0.04740	0.530000	0.56133	CTA		0.438	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		47	84	0	0	0	0	47	84				
SYVN1	84447	broad.mit.edu	37	11	64897499	64897499	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:64897499C>A	ENST00000377190.3	-	13	1477	c.1383G>T	c.(1381-1383)atG>atT	p.M461I	SYVN1_ENST00000307289.6_Missense_Mutation_p.M409I|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000526060.1_Missense_Mutation_p.M460I|SYVN1_ENST00000294256.8_Missense_Mutation_p.M460I	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	461	Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGGGCATACCCATCCAGGGAG	0.647																																						uc001odb.2		NA																	0				ovary(1)	1						c.(1381-1383)ATG>ATT		synoviolin 1 isoform b							38.0	40.0	40.0					11																	64897499		2200	4296	6496	SO:0001583	missense	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64897499C>A	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1383G>T	11.37:g.64897499C>A	ENSP00000366395:p.Met461Ile					SYVN1_uc001odc.2_Missense_Mutation_p.M460I|SYVN1_uc009yqc.2_Missense_Mutation_p.M409I	p.M461I	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN			13	1477	-			461			Pro-rich.|Cytoplasmic (Potential).		Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	ENST00000377190.3	37	c.1383G>T	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244534	0.22796	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060	T;T;T;T	0.10192	2.9;2.92;3.07;2.92	4.85	4.85	0.62838	.	0.250029	0.34531	N	0.003889	T	0.09862	0.0242	L	0.50333	1.59	0.33781	D	0.624225	B;B;B	0.22983	0.078;0.029;0.017	B;B;B	0.16289	0.015;0.015;0.007	T	0.09143	-1.0688	10	0.21540	T	0.41	-18.1089	8.9694	0.35897	0.0:0.9013:0.0:0.0987	.	409;460;461	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	I	461;460;461;409;460	ENSP00000366395:M461I;ENSP00000294256:M460I;ENSP00000302035:M409I;ENSP00000436984:M460I	ENSP00000294256:M460I	M	-	3	0	SYVN1	64654075	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.119000	0.41958	2.522000	0.85027	0.561000	0.74099	ATG		0.647	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		7	14	1	0	5.18e-06	5.55e-06	7	14				
SERPINH1	871	broad.mit.edu	37	11	75277799	75277799	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:75277799C>T	ENST00000524558.1	+	2	1840	c.405C>T	c.(403-405)taC>taT	p.Y135Y	SERPINH1_ENST00000533603.1_Silent_p.Y135Y|SERPINH1_ENST00000530284.1_Silent_p.Y135Y|SERPINH1_ENST00000358171.3_Silent_p.Y135Y|SERPINH1_ENST00000525876.1_5'Flank			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	135					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GCCGACTGTACGGACCCAGCT	0.642																																						uc001owr.2		NA																	0				ovary(2)	2						c.(403-405)TAC>TAT		serine (or cysteine) proteinase inhibitor, clade							35.0	32.0	33.0					11																	75277799		2200	4293	6493	SO:0001819	synonymous_variant	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75277799C>T	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.405C>T	11.37:g.75277799C>T						SERPINH1_uc009yuf.2_Silent_p.Y135Y|SERPINH1_uc009yug.2_Silent_p.Y135Y|SERPINH1_uc001ows.2_Silent_p.Y135Y|SERPINH1_uc001owt.2_5'Flank	p.Y135Y	NM_001235	NP_001226	P50454	SERPH_HUMAN			2	634	+	Ovarian(111;0.11)		135					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Silent	SNP	ENST00000524558.1	37	c.405C>T	CCDS8239.1																																																																																				0.642	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		16	25	0	0	0	0	16	25				
UBE4A	9354	broad.mit.edu	37	11	118267058	118267059	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:118267058_118267059CC>TT	ENST00000431736.2	+	20	3197_3198	c.3125_3126CC>TT	c.(3124-3126)cCC>cTT	p.P1042L	RP11-770J1.5_ENST00000531742.1_5'Flank|UBE4A_ENST00000252108.3_Missense_Mutation_p.P1035L|UBE4A_ENST00000545354.1_Missense_Mutation_p.P507L					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AACCGTAGTCCCCTCACCATGG	0.421																																						uc001psw.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5						c.(3103-3105)CCC>CTT		ubiquitination factor E4A																																				SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118267058_118267059CC>TT	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	Exception_encountered	11.37:g.118267058_118267059delinsTT	ENSP00000387362:p.Pro1042Leu					UBE4A_uc001psv.2_Missense_Mutation_p.P1042L	p.P1035L	NM_004788	NP_004779	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	20	3233_3234	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	1035			U-box.			Missense_Mutation	DNP	ENST00000431736.2	37	c.3104_3105CC>TT	CCDS8396.1																																																																																				0.421	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		23	42	0	0	0	0	23	42				
SORL1	6653	broad.mit.edu	37	11	121444948	121444948	+	Splice_Site	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:121444948A>T	ENST00000260197.7	+	24	3466		c.e24-1		SORL1_ENST00000534286.1_5'Flank|SORL1_ENST00000532694.1_5'Flank|SORL1_ENST00000525532.1_Splice_Site	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing						cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATCCCATTTTAGCTACCACCA	0.418																																						uc001pxx.2		NA																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.e24-2		sortilin-related receptor containing LDLR class							196.0	179.0	185.0					11																	121444948		2203	4299	6502	SO:0001630	splice_region_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121444948A>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3338-1A>T	11.37:g.121444948A>T						SORL1_uc010rzp.1_5'Flank	p.P1113_splice	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	24	3418	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)						B2RNX7|Q92856	Splice_Site	SNP	ENST00000260197.7	37	c.3338_splice	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916691	0.73098	.	.	ENSG00000137642	ENST00000260197;ENST00000525532	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0204	0.80478	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SORL1	120950158	1.000000	0.71417	0.954000	0.39281	0.785000	0.44390	8.333000	0.90026	2.174000	0.68829	0.533000	0.62120	.		0.418	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	Intron	52	107	0	0	0	0	52	107				
HSPA8	3312	broad.mit.edu	37	11	122928593	122928593	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:122928593T>A	ENST00000532636.1	-	9	1909	c.1790A>T	c.(1789-1791)aAa>aTa	p.K597I	SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000533540.1_Missense_Mutation_p.K451I|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.K597I|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.K597I|HSPA8_ENST00000526110.1_Missense_Mutation_p.K578I|HSPA8_ENST00000534319.1_Missense_Mutation_p.K361I			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	597					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTCCAGCTCTTTCTGTTGATG	0.463																																					Colon(21;486 594 5900 6733 14272)	uc001pyo.2		NA																	0				central_nervous_system(7)|lung(1)	8						c.(1789-1791)AAA>ATA		heat shock 70kDa protein 8 isoform 1							140.0	149.0	146.0					11																	122928593		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122928593T>A	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1790A>T	11.37:g.122928593T>A	ENSP00000437125:p.Lys597Ile					HSPA8_uc009zbc.2_Missense_Mutation_p.K361I|HSPA8_uc001pyp.2_Intron|HSPA8_uc010rzu.1_Missense_Mutation_p.K520I	p.K597I	NM_006597	NP_006588	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	9	1868	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	597					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1790A>T	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.315325	0.81358	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	4.65	4.65	0.58169	.	0.054419	0.64402	D	0.000002	T	0.65842	0.2730	H	0.99535	4.615	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.82055	-0.0647	10	0.87932	D	0	-17.9926	14.3645	0.66795	0.0:0.0:0.0:1.0	.	597;597	Q53GZ6;P11142	.;HSP7C_HUMAN	I	597;451;597;597;361;578;188;149	ENSP00000437125:K597I;ENSP00000437189:K451I;ENSP00000432083:K597I;ENSP00000227378:K597I;ENSP00000433316:K361I;ENSP00000433584:K578I;ENSP00000435908:K188I;ENSP00000435019:K149I	ENSP00000227378:K597I	K	-	2	0	HSPA8	122433803	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.922000	0.87538	1.853000	0.53794	0.459000	0.35465	AAA		0.463	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			53	88	0	0	0	0	53	88				
OR10S1	219873	broad.mit.edu	37	11	123847492	123847492	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:123847492T>A	ENST00000531945.1	-	1	996	c.907A>T	c.(907-909)Act>Tct	p.T303S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTCCGCAAAGTGTAAATGAAT	0.537																																						uc001pzm.1		NA																	0				ovary(1)|skin(1)	2						c.(907-909)ACT>TCT		olfactory receptor, family 10, subfamily S,							90.0	90.0	90.0					11																	123847492		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847492T>A	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.907A>T	11.37:g.123847492T>A	ENSP00000431914:p.Thr303Ser						p.T303S	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	907	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	303			Helical; Name=7; (Potential).		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.907A>T	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.288003	0.40494	.	.	ENSG00000196248	ENST00000531945	T	0.36157	1.27	4.82	3.69	0.42338	.	0.000000	0.36200	U	0.002736	T	0.14570	0.0352	N	0.04116	-0.275	0.23550	N	0.997435	B	0.23128	0.08	B	0.22152	0.038	T	0.28490	-1.0042	10	0.06625	T	0.88	-17.033	9.9749	0.41777	0.0:0.0808:0.0:0.9192	.	303	Q8NGN2	O10S1_HUMAN	S	303	ENSP00000431914:T303S	ENSP00000431914:T303S	T	-	1	0	OR10S1	123352702	0.991000	0.36638	0.987000	0.45799	0.681000	0.39784	1.155000	0.31700	0.865000	0.35603	0.460000	0.39030	ACT		0.537	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		43	83	0	0	0	0	43	83				
APLP2	334	broad.mit.edu	37	11	130005458	130005458	+	Splice_Site	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr11:130005458A>G	ENST00000263574.5	+	13	1757	c.1685A>G	c.(1684-1686)gAt>gGt	p.D562G	APLP2_ENST00000528499.1_Splice_Site_p.D506G|APLP2_ENST00000543137.1_Splice_Site_p.D469G|APLP2_ENST00000338167.5_Splice_Site_p.D562G|APLP2_ENST00000539648.1_Splice_Site_p.D350G|APLP2_ENST00000345598.5_Splice_Site_p.D333G|APLP2_ENST00000278756.7_Splice_Site_p.D572G	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	562					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TCTTCATCAGATGAGCTCCTT	0.587																																						uc010sby.1		NA																	0				ovary(3)	3						c.(1684-1686)GAT>GGT		amyloid beta (A4) precursor-like protein 2							110.0	104.0	106.0					11																	130005458		2201	4297	6498	SO:0001630	splice_region_variant	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:130005458A>G	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1685-1A>G	11.37:g.130005458A>G						APLP2_uc001qfp.2_Missense_Mutation_p.D562G|APLP2_uc001qfq.2_Missense_Mutation_p.D506G|APLP2_uc010sbz.1_Missense_Mutation_p.D350G|APLP2_uc001qfr.2_Missense_Mutation_p.D328G|APLP2_uc001qfs.2_Missense_Mutation_p.D333G|APLP2_uc001qfv.2_Missense_Mutation_p.D453G	p.D562G	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	13	1842	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	562			Extracellular (Potential).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1685A>G	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.215892	0.58452	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.28	5.28	0.74379	Amyloidogenic glycoprotein, E2 domain (1);	0.000000	0.85682	D	0.000000	T	0.66867	0.2833	M	0.71581	2.175	0.80722	D	1	D;B;B;B;B;B;B	0.63046	0.992;0.015;0.007;0.001;0.03;0.012;0.044	D;B;B;B;B;B;B	0.80764	0.994;0.023;0.02;0.032;0.028;0.02;0.038	T	0.68202	-0.5471	9	.	.	.	.	14.388	0.66958	1.0:0.0:0.0:0.0	.	350;562;506;333;500;506;562	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	G	506;350;562;333;562;572;469	ENSP00000435914:D506G;ENSP00000443728:D350G;ENSP00000263574:D562G;ENSP00000263575:D333G;ENSP00000345444:D562G;ENSP00000278756:D572G;ENSP00000444122:D469G	.	D	+	2	0	APLP2	129510668	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	8.850000	0.92190	2.006000	0.58801	0.482000	0.46254	GAT		0.587	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642	Missense_Mutation	45	83	0	0	0	0	45	83				
PLBD1	79887	broad.mit.edu	37	12	14706306	14706306	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:14706306C>G	ENST00000240617.5	-	2	808	c.156G>C	c.(154-156)aaG>aaC	p.K52N	RN7SKP134_ENST00000363960.1_RNA	NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	52					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CTTGTACTGTCTTTTCAGCAG	0.413																																						uc001rcc.1		NA																	0					0						c.(154-156)AAG>AAC		phospholipase B domain containing 1							108.0	104.0	105.0					12																	14706306		2203	4300	6503	SO:0001583	missense	79887				lipid catabolic process	extracellular region	hydrolase activity	g.chr12:14706306C>G	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.156G>C	12.37:g.14706306C>G	ENSP00000240617:p.Lys52Asn						p.K52N	NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN			2	317	-			52					A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	ENST00000240617.5	37	c.156G>C	CCDS31751.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657394	0.47467	.	.	ENSG00000121316	ENST00000240617;ENST00000540572	T	0.18338	2.22	6.17	3.39	0.38822	.	0.348777	0.35772	N	0.002985	T	0.16471	0.0396	L	0.39898	1.24	0.09310	N	1	P	0.44521	0.837	P	0.46629	0.522	T	0.08848	-1.0702	10	0.19147	T	0.46	-7.2988	9.5238	0.39152	0.0:0.711:0.0:0.289	.	52	Q6P4A8	PLBL1_HUMAN	N	52;5	ENSP00000240617:K52N	ENSP00000240617:K52N	K	-	3	2	PLBD1	14597573	0.563000	0.26594	0.001000	0.08648	0.006000	0.05464	1.120000	0.31271	0.956000	0.37904	-0.136000	0.14681	AAG		0.413	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829		26	38	0	0	0	0	26	38				
SLCO1A2	6579	broad.mit.edu	37	12	21467564	21467564	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:21467564C>G	ENST00000307378.6	-	5	974	c.254G>C	c.(253-255)aGa>aCa	p.R85T	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.R83T|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.R85T|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000458504.1_Intron	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	85					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	CATTATAGGTCTATGCAGTTT	0.328																																						uc001rer.2		NA																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(253-255)AGA>ACA		organic anion transporting polypeptide A							117.0	106.0	110.0					12																	21467564		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21467564C>G		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.254G>C	12.37:g.21467564C>G	ENSP00000305974:p.Arg85Thr					SLCO1A2_uc001res.2_Missense_Mutation_p.R85T|SLCO1A2_uc010siq.1_Intron|SLCO1A2_uc010sio.1_Intron|SLCO1A2_uc010sip.1_Intron|SLCO1A2_uc001ret.2_Missense_Mutation_p.R83T|SLCO1A2_uc001reu.2_Missense_Mutation_p.R65T	p.R85T	NM_021094	NP_066580	P46721	SO1A2_HUMAN			3	505	-			85			Cytoplasmic (Potential).		Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.254G>C	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871170	0.91587	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000390670;ENST00000422327;ENST00000453443;ENST00000421294;ENST00000450590;ENST00000435179	T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81384	0.4811	H	0.95402	3.665	0.46981	D	0.999273	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.86306	0.1683	10	0.87932	D	0	.	17.722	0.88355	0.0:1.0:0.0:0.0	.	65;83;85	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	T	85;85;83;85;85;85;85;85	ENSP00000305974:R85T;ENSP00000393973:R85T;ENSP00000375088:R83T;ENSP00000416190:R85T;ENSP00000409314:R85T;ENSP00000390572:R85T;ENSP00000407462:R85T;ENSP00000401195:R85T	ENSP00000305974:R85T	R	-	2	0	SLCO1A2	21358831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.781000	0.75068	2.860000	0.98153	0.655000	0.94253	AGA		0.328	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		19	41	0	0	0	0	19	41				
ITPR2	3709	broad.mit.edu	37	12	26808679	26808679	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:26808679G>A	ENST00000381340.3	-	20	2967	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	851					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCCCCAAAAGGAAAGGGCTGG	0.338																																						uc001rhg.2		NA																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(2551-2553)CCT>TCT		inositol 1,4,5-triphosphate receptor, type 2							94.0	94.0	94.0					12																	26808679		1796	4063	5859	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26808679G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2551C>T	12.37:g.26808679G>A	ENSP00000370744:p.Pro851Ser						p.P851S	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			20	2968	-	Colorectal(261;0.0847)		851			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2551C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290203	0.59976	.	.	ENSG00000123104	ENST00000381340	D	0.91180	-2.8	5.48	5.48	0.80851	.	0.156614	0.64402	N	0.000014	D	0.90978	0.7163	N	0.21583	0.68	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.86546	0.1831	10	0.08381	T	0.77	.	19.3502	0.94381	0.0:0.0:1.0:0.0	.	851	Q14571	ITPR2_HUMAN	S	851	ENSP00000370744:P851S	ENSP00000370744:P851S	P	-	1	0	ITPR2	26699946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.433000	0.97501	2.565000	0.86533	0.655000	0.94253	CCT		0.338	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		37	61	0	0	0	0	37	61				
FKBP11	51303	broad.mit.edu	37	12	49319149	49319149	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:49319149C>A	ENST00000550765.1	-	1	461	c.63G>T	c.(61-63)gcG>gcT	p.A21A	Y_RNA_ENST00000364808.1_RNA|CCDC65_ENST00000266984.5_Intron|AC073610.5_ENST00000537495.1_Intron|FKBP11_ENST00000453172.2_Silent_p.A21A|RP11-302B13.5_ENST00000398092.4_Intron|FKBP11_ENST00000444214.2_5'Flank|FKBP11_ENST00000552878.1_Silent_p.A21A	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	21					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(3)|lung(1)	5						CCCGGCACACCGCCGCACTGa	0.697																																						uc001rsp.2		NA																	0					0						c.(61-63)GCG>GCT		FK506 binding protein 11 isoform 1 precursor							19.0	20.0	20.0					12																	49319149		2201	4299	6500	SO:0001819	synonymous_variant	51303				protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr12:49319149C>A	AF238079	CCDS8773.1, CCDS44870.1, CCDS44871.1	12q13.12	2008-08-04	2002-08-29			ENSG00000134285			18624	protein-coding gene	gene with protein product		610571	"""FK506 binding protein 11 (19 kDa)"""			12036304, 16596453	Standard	NM_016594		Approved	FKBP19	uc001rsp.3	Q9NYL4		ENST00000550765.1:c.63G>T	12.37:g.49319149C>A						FKBP11_uc010sma.1_5'Flank|FKBP11_uc001rsq.3_Silent_p.A21A|FKBP11_uc010smb.1_Silent_p.A21A	p.A21A	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN			1	182	-			21					B4DWB7	Silent	SNP	ENST00000550765.1	37	c.63G>T	CCDS8773.1																																																																																				0.697	FKBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408927.1	NM_016594		3	25	1	0	0.00909568	0.00939367	3	25				
KRT78	196374	broad.mit.edu	37	12	53241878	53241878	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:53241878C>T	ENST00000304620.4	-	2	475	c.412G>A	c.(412-414)Gtc>Atc	p.V138I	KRT78_ENST00000359499.4_Missense_Mutation_p.V28I	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	138	Coil 1A.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GTCTCCAGGACCTTGTTCTGC	0.597																																						uc001sbc.1		NA																	0				ovary(2)	2						c.(412-414)GTC>ATC		keratin 5b							42.0	38.0	39.0					12																	53241878		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53241878C>T	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.412G>A	12.37:g.53241878C>T	ENSP00000306261:p.Val138Ile						p.V138I	NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN			2	476	-			138			Coil 1A.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.412G>A	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123424	0.56613	.	.	ENSG00000170423	ENST00000359499;ENST00000304620	D;T	0.88818	-2.43;-0.87	5.12	2.0	0.26442	Filament (1);	.	.	.	.	D	0.83050	0.5170	L	0.48986	1.54	0.23685	N	0.997111	P	0.39443	0.674	B	0.36418	0.224	T	0.74137	-0.3762	9	0.62326	D	0.03	.	5.5064	0.16856	0.1452:0.6347:0.1407:0.0794	.	138	Q8N1N4	K2C78_HUMAN	I	28;138	ENSP00000352479:V28I;ENSP00000306261:V138I	ENSP00000306261:V138I	V	-	1	0	KRT78	51528145	0.997000	0.39634	1.000000	0.80357	0.874000	0.50279	0.941000	0.29005	0.628000	0.30357	0.555000	0.69702	GTC		0.597	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		11	32	0	0	0	0	11	32				
MYO1A	4640	broad.mit.edu	37	12	57431381	57431381	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:57431381C>G	ENST00000442789.2	-	20	2293	c.2006G>C	c.(2005-2007)gGg>gCg	p.G669A	MYO1A_ENST00000300119.3_Missense_Mutation_p.G669A|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000544473.1_Missense_Mutation_p.G507A	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	669	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCCAGCTCCCCCGAGGACAT	0.512																																						uc001smw.3		NA																	0				skin(4)|ovary(2)|urinary_tract(1)	7						c.(2005-2007)GGG>GCG		myosin IA							246.0	255.0	252.0					12																	57431381		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57431381C>G	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2006G>C	12.37:g.57431381C>G	ENSP00000393392:p.Gly669Ala					MYO1A_uc010sqz.1_Missense_Mutation_p.G507A|MYO1A_uc009zpd.2_Missense_Mutation_p.G669A	p.G669A	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			19	2249	-			669			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.2006G>C	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897602	0.33535	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.87256	-2.23;-2.23;-2.23	4.96	2.25	0.28309	Myosin head, motor domain (2);	0.303544	0.34156	N	0.004212	T	0.71888	0.3393	N	0.10645	0.015	0.24909	N	0.992053	B	0.20164	0.042	B	0.28385	0.089	T	0.60885	-0.7174	10	0.35671	T	0.21	.	6.3552	0.21397	0.0:0.2494:0.0:0.7506	.	669	Q9UBC5	MYO1A_HUMAN	A	669;669;507	ENSP00000300119:G669A;ENSP00000393392:G669A;ENSP00000440514:G507A	ENSP00000300119:G669A	G	-	2	0	MYO1A	55717648	0.982000	0.34865	0.840000	0.33206	0.926000	0.56050	2.497000	0.45354	0.764000	0.33197	-0.469000	0.05056	GGG		0.512	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		107	229	0	0	0	0	107	229				
OS9	10956	broad.mit.edu	37	12	58088661	58088661	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:58088661G>A	ENST00000315970.7	+	2	332	c.291G>A	c.(289-291)ggG>ggA	p.G97G	OS9_ENST00000257966.8_Silent_p.G97G|OS9_ENST00000551035.1_Silent_p.G97G|OS9_ENST00000439210.2_Intron|OS9_ENST00000389142.5_Silent_p.G97G|OS9_ENST00000389146.6_Silent_p.G97G|OS9_ENST00000552285.1_Silent_p.G97G|OS9_ENST00000435406.2_Silent_p.G97G|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000413095.2_Silent_p.G97G	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	97					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AAGGGCCTGGGATCCCTGAGT	0.522																																						uc001spj.2		NA																	0				ovary(1)	1						c.(289-291)GGG>GGA		osteosarcoma amplified 9, endoplasmic reticulum							123.0	109.0	114.0					12																	58088661		2203	4300	6503	SO:0001819	synonymous_variant	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58088661G>A	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.291G>A	12.37:g.58088661G>A						OS9_uc010srx.1_Silent_p.G97G|OS9_uc001spk.2_Silent_p.G97G|OS9_uc001spl.2_Silent_p.G97G|OS9_uc001spm.2_Silent_p.G97G|OS9_uc001spn.2_Silent_p.G97G|OS9_uc010sry.1_Silent_p.G97G|OS9_uc010srz.1_Intron	p.G97G	NM_006812	NP_006803	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		2	350	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		97					A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Silent	SNP	ENST00000315970.7	37	c.291G>A	CCDS31843.1																																																																																				0.522	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		20	41	0	0	0	0	20	41				
SRGAP1	57522	broad.mit.edu	37	12	64521813	64521813	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:64521813G>A	ENST00000355086.3	+	21	3237	c.2713G>A	c.(2713-2715)Gac>Aac	p.D905N	SRGAP1_ENST00000357825.3_Missense_Mutation_p.D882N|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D842N	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	905					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCTCAACAATGACAGTCCTGA	0.617																																						uc010ssp.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(2713-2715)GAC>AAC		SLIT-ROBO Rho GTPase activating protein 1							65.0	59.0	61.0					12																	64521813		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64521813G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2713G>A	12.37:g.64521813G>A	ENSP00000347198:p.Asp905Asn					SRGAP1_uc001srv.2_Missense_Mutation_p.D842N	p.D905N	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	21	2769	+			905					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.2713G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400114	0.96030	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.23754	2.89;2.47;1.89	5.65	5.65	0.86999	.	0.000000	0.36703	U	0.002460	T	0.45935	0.1367	L	0.59436	1.845	0.80722	D	1	P;D	0.56287	0.955;0.975	P;P	0.58928	0.776;0.848	T	0.08534	-1.0717	9	.	.	.	.	20.1057	0.97893	0.0:0.0:1.0:0.0	.	905;842	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	N	905;882;842	ENSP00000347198:D905N;ENSP00000350480:D882N;ENSP00000437948:D842N	.	D	+	1	0	SRGAP1	62808080	1.000000	0.71417	0.969000	0.41365	0.668000	0.39293	9.707000	0.98725	2.827000	0.97445	0.650000	0.86243	GAC		0.617	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			31	54	0	0	0	0	31	54				
PTPRB	5787	broad.mit.edu	37	12	71002999	71002999	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:71002999T>G	ENST00000261266.5	-	2	204	c.175A>C	c.(175-177)Agc>Cgc	p.S59R	PTPRB_ENST00000451516.2_Missense_Mutation_p.S59R|PTPRB_ENST00000550358.1_Missense_Mutation_p.S277R|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.S59R|PTPRB_ENST00000538708.1_Missense_Mutation_p.S59R|PTPRB_ENST00000551525.1_Missense_Mutation_p.S276R|PTPRB_ENST00000334414.6_Missense_Mutation_p.S277R	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	59	Fibronectin type-III 1. {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)			GTGTCACTGCTATAGATGAGG	0.498																																						uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(175-177)AGC>CGC		protein tyrosine phosphatase, receptor type, B							81.0	84.0	83.0					12																	71002999		1920	4118	6038	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71002999T>G	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.175A>C	12.37:g.71002999T>G	ENSP00000261266:p.Ser59Arg					PTPRB_uc010sto.1_Missense_Mutation_p.S59R|PTPRB_uc010stp.1_Missense_Mutation_p.S59R|PTPRB_uc001swc.3_Missense_Mutation_p.S277R|PTPRB_uc001swa.3_Missense_Mutation_p.S277R|PTPRB_uc001swd.3_Missense_Mutation_p.S276R|PTPRB_uc009zrr.1_Missense_Mutation_p.S156R|PTPRB_uc001swe.2_Missense_Mutation_p.S277R	p.S59R	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)		2	205	-	Renal(347;0.236)		59			Fibronectin type-III 1.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.175A>C	CCDS44944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.025|2.025	-0.423836|-0.423836	0.04734|0.04734	.|.	.|.	ENSG00000127329|ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122|ENST00000547715	T;T;T;T;T;T;T;T|.	0.56103|.	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48|.	4.75|4.75	2.37|2.37	0.29283|0.29283	Fibronectin, type III (3);|.	0.436374|.	0.25663|.	N|.	0.029139|.	T|.	0.37100|.	0.0991|.	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B;B|.	0.19200|.	0.005;0.005;0.005;0.034;0.001;0.0;0.002;0.005|.	B;B;B;B;B;B;B;B|.	0.24848|.	0.034;0.026;0.015;0.056;0.008;0.006;0.009;0.015|.	T|.	0.23190|.	-1.0195|.	10|.	0.15952|.	T|.	0.53|.	.|.	7.1514|7.1514	0.25612|0.25612	0.0:0.1835:0.0:0.8165|0.0:0.1835:0.0:0.8165	.|.	59;59;156;277;276;277;59;277|.	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56|.	.;.;.;.;.;.;PTPRB_HUMAN;.|.	R|S	277;59;277;277;59;59;59;276;156|50	ENSP00000334928:S277R;ENSP00000393028:S59R;ENSP00000448058:S277R;ENSP00000438927:S59R;ENSP00000447302:S59R;ENSP00000261266:S59R;ENSP00000448349:S276R;ENSP00000446982:S156R|.	ENSP00000261266:S59R|.	S|X	-|-	1|2	0|0	PTPRB|PTPRB	69289266|69289266	0.780000|0.780000	0.28664|0.28664	0.004000|0.004000	0.12327|0.12327	0.112000|0.112000	0.19704|0.19704	1.251000|1.251000	0.32862|0.32862	0.318000|0.318000	0.23185|0.23185	0.482000|0.482000	0.46254|0.46254	AGC|TAG		0.498	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			3	67	0	0	0	0	3	67				
ANO4	121601	broad.mit.edu	37	12	101520815	101520815	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:101520815G>C	ENST00000392977.3	+	27	3045	c.2835G>C	c.(2833-2835)aaG>aaC	p.K945N	ANO4_ENST00000299222.9_Missense_Mutation_p.K465N|ANO4_ENST00000550015.1_Missense_Mutation_p.K465N|ANO4_ENST00000392979.3_Missense_Mutation_p.K910N			Q32M45	ANO4_HUMAN	anoctamin 4	945					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGAGGAAGAAGAATGGAAAAG	0.488										HNSCC(74;0.22)																												uc010svm.1		NA																	0				ovary(4)|skin(2)	6						c.(2833-2835)AAG>AAC		anoctamin 4							117.0	84.0	95.0					12																	101520815		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101520815G>C	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2835G>C	12.37:g.101520815G>C	ENSP00000376703:p.Lys945Asn	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.K910N|ANO4_uc001thx.2_Missense_Mutation_p.K945N|ANO4_uc001thy.2_Missense_Mutation_p.K465N	p.K945N	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			27	3407	+			945			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2835G>C		.	.	.	.	.	.	.	.	.	.	G	15.22	2.770181	0.49680	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.70516	-0.47;-0.3;-0.49;-0.3	5.58	-1.79	0.07932	.	0.058831	0.64402	D	0.000005	T	0.65004	0.2650	N	0.24115	0.695	0.42444	D	0.992723	P;D;D	0.58970	0.835;0.984;0.974	P;P;P	0.56278	0.57;0.748;0.795	T	0.61322	-0.7086	10	0.30854	T	0.27	.	13.7653	0.62990	0.3936:0.0:0.6064:0.0	.	465;945;910	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	N	910;465;945;465	ENSP00000376705:K910N;ENSP00000299222:K465N;ENSP00000376703:K945N;ENSP00000450192:K465N	ENSP00000299222:K465N	K	+	3	2	ANO4	100044946	1.000000	0.71417	0.970000	0.41538	0.467000	0.32768	1.231000	0.32624	-0.488000	0.06726	-0.345000	0.07892	AAG		0.488	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		6	16	0	0	0	0	6	16				
SELPLG	6404	broad.mit.edu	37	12	109017613	109017613	+	Silent	SNP	C	C	T	rs546690901		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:109017613C>T	ENST00000550948.1	-	2	695	c.471G>A	c.(469-471)acG>acA	p.T157T	SELPLG_ENST00000228463.6_Silent_p.T173T|SELPLG_ENST00000388962.3_Silent_p.T147T			Q14242	SELPL_HUMAN	selectin P ligand	157	12 X 10 AA tandem repeats.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CCTCCGTGGCCGTCAGTCGAG	0.637													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18979	0.0		0.0	False		,,,				2504	0.0					uc001tni.2		NA																	0					0						c.(469-471)ACG>ACA		selectin P ligand							182.0	139.0	154.0					12																	109017613		2203	4300	6503	SO:0001819	synonymous_variant	6404				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109017613C>T		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.471G>A	12.37:g.109017613C>T						SELPLG_uc001tnh.2_Silent_p.T147T|SELPLG_uc010sxe.1_Silent_p.T173T	p.T157T	NM_003006	NP_002997	Q14242	SELPL_HUMAN			2	631	-			157			Extracellular (Potential).|12 X 10 AA tandem repeats.		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Silent	SNP	ENST00000550948.1	37	c.471G>A	CCDS31895.2																																																																																				0.637	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			53	78	0	0	0	0	53	78				
CUX2	23316	broad.mit.edu	37	12	111746236	111746236	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:111746236G>A	ENST00000261726.6	+	14	1318	c.1164G>A	c.(1162-1164)atG>atA	p.M388I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	388					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCTAGGGCATGGCCAAGCCTG	0.612																																						uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(1162-1164)ATG>ATA		cut-like 2							47.0	49.0	48.0					12																	111746236		2004	4186	6190	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111746236G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1164G>A	12.37:g.111746236G>A	ENSP00000261726:p.Met388Ile						p.M388I	NM_015267	NP_056082	O14529	CUX2_HUMAN			14	1317	+			388					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.1164G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916394	0.33815	.	.	ENSG00000111249	ENST00000261726	T	0.41400	1.0	5.04	4.08	0.47627	.	0.678460	0.15638	N	0.252045	T	0.24890	0.0604	N	0.12182	0.205	0.23645	N	0.997213	B	0.02656	0.0	B	0.01281	0.0	T	0.08351	-1.0726	10	0.30854	T	0.27	-3.4703	11.309	0.49353	0.0:0.0:0.8183:0.1817	.	388	O14529	CUX2_HUMAN	I	388	ENSP00000261726:M388I	ENSP00000261726:M388I	M	+	3	0	CUX2	110230619	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	0.940000	0.28992	2.344000	0.79699	0.313000	0.20887	ATG		0.612	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		18	27	0	0	0	0	18	27				
RNF10	9921	broad.mit.edu	37	12	121000765	121000765	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:121000765G>T	ENST00000325954.4	+	8	1607	c.1146G>T	c.(1144-1146)ctG>ctT	p.L382L	RNF10_ENST00000413266.2_Silent_p.L382L	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	382					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGAGGCTCTGTCGGGATTGG	0.537																																						uc001typ.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1144-1146)CTG>CTT		ring finger protein 10							152.0	134.0	140.0					12																	121000765		2203	4300	6503	SO:0001819	synonymous_variant	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121000765G>T	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1146G>T	12.37:g.121000765G>T						RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Silent_p.L288L	p.L382L	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			8	1629	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		382					Q92550|Q9NPP8|Q9ULW4	Silent	SNP	ENST00000325954.4	37	c.1146G>T	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368220	0.24771	.	.	ENSG00000022840	ENST00000537740	.	.	.	5.5	1.46	0.22682	.	.	.	.	.	T	0.42988	0.1227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22034	-1.0228	4	.	.	.	.	1.8223	0.03113	0.1844:0.1569:0.4966:0.1621	.	.	.	.	F	60	.	.	C	+	2	0	RNF10	119485148	1.000000	0.71417	0.999000	0.59377	0.779000	0.44077	0.537000	0.23144	0.089000	0.17243	-0.345000	0.07892	TGT		0.537	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			30	48	1	0	6.01e-18	6.99e-18	30	48				
HNF1A	6927	broad.mit.edu	37	12	121434487	121434487	+	Silent	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:121434487T>A	ENST00000257555.6	+	6	1477	c.1251T>A	c.(1249-1251)ggT>ggA	p.G417G	HNF1A_ENST00000544413.1_Silent_p.G417G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Silent_p.G417G|HNF1A_ENST00000400024.2_Silent_p.G417G|HNF1A_ENST00000402929.1_Silent_p.G417G|HNF1A_ENST00000543427.1_Silent_p.G300G			P20823	HNF1A_HUMAN	HNF1 homeobox A	417					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCGGGCCTGGTGAGCCTGCCT	0.632									Hepatic Adenoma, Familial Clustering of																													uc001tzg.2		NA																	0				liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116						c.(1249-1251)GGT>GGA		hepatic nuclear factor-1-alpha							107.0	83.0	91.0					12																	121434487		2203	4300	6503	SO:0001819	synonymous_variant	6927	Hepatic_Adenoma_Familial_Clustering_of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121434487T>A	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1251T>A	12.37:g.121434487T>A						HNF1A_uc001tze.1_Silent_p.G417G|HNF1A_uc001tzf.2_Silent_p.G417G|HNF1A_uc010szn.1_Silent_p.G417G	p.G417G	NM_000545	NP_000536	P20823	HNF1A_HUMAN			6	1274	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		417					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	ENST00000257555.6	37	c.1251T>A	CCDS9209.1																																																																																				0.632	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		19	32	0	0	0	0	19	32				
WDR66	144406	broad.mit.edu	37	12	122361573	122361573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:122361573G>A	ENST00000288912.4	+	3	1278	c.424G>A	c.(424-426)Gat>Aat	p.D142N	WDR66_ENST00000397454.2_Missense_Mutation_p.D142N	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	142							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ACAATTGGAGGATGCAGAAAC	0.363																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2		NA																	0				ovary(1)|skin(1)	2						c.(424-426)GAT>AAT		WD repeat domain 66							96.0	88.0	91.0					12																	122361573		1843	4094	5937	SO:0001583	missense	144406						calcium ion binding	g.chr12:122361573G>A	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.424G>A	12.37:g.122361573G>A	ENSP00000288912:p.Asp142Asn						p.D142N	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	3	566	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		142					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.424G>A	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	6.287	0.421046	0.11928	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.18960	2.18;2.18	3.41	-5.45	0.02616	.	4.118990	0.00622	N	0.000443	T	0.07052	0.0179	N	0.08118	0	0.09310	N	1	B	0.25105	0.118	B	0.14578	0.011	T	0.19386	-1.0307	10	0.06625	T	0.88	.	1.4927	0.02460	0.3358:0.2873:0.2585:0.1184	.	142	Q8TBY9	WDR66_HUMAN	N	142	ENSP00000288912:D142N;ENSP00000380595:D142N	ENSP00000288912:D142N	D	+	1	0	WDR66	120845956	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.293000	0.08320	-1.369000	0.02147	0.460000	0.39030	GAT		0.363	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		23	61	0	0	0	0	23	61				
POLE	5426	broad.mit.edu	37	12	133249289	133249289	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr12:133249289T>C	ENST00000320574.5	-	15	1653	c.1610A>G	c.(1609-1611)gAg>gGg	p.E537G	POLE_ENST00000535270.1_Missense_Mutation_p.E510G	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	537					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GACGTAGGTCTCAGAGTCCAG	0.577								DNA polymerases (catalytic subunits)																														uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(1609-1611)GAG>GGG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							131.0	126.0	128.0					12																	133249289		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133249289T>C		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1610A>G	12.37:g.133249289T>C	ENSP00000322570:p.Glu537Gly					POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.E510G	p.E537G	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	15	1654	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	537					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.1610A>G	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.566913	0.86439	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.73668	-0.3910	10	0.87932	D	0	.	15.8998	0.79365	0.0:0.0:0.0:1.0	.	510;537	F5H1D6;Q07864	.;DPOE1_HUMAN	G	537;548;510;317;472;155	ENSP00000322570:E537G;ENSP00000406383:E548G;ENSP00000445753:E510G;ENSP00000442519:E317G	ENSP00000322570:E537G	E	-	2	0	POLE	131759362	1.000000	0.71417	0.997000	0.53966	0.509000	0.34042	7.956000	0.87863	2.165000	0.68154	0.260000	0.18958	GAG		0.577	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		31	64	0	0	0	0	31	64				
RNF17	56163	broad.mit.edu	37	13	25448319	25448319	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:25448319A>T	ENST00000255324.5	+	33	4567	c.4515A>T	c.(4513-4515)gaA>gaT	p.E1505D	RNF17_ENST00000381921.1_Missense_Mutation_p.E1463D|RNF17_ENST00000339524.3_Missense_Mutation_p.E515D	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1505	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCATTAAAGAATTTAATCCTT	0.328																																						uc001upr.2		NA																	0				ovary(1)|skin(1)	2						c.(4513-4515)GAA>GAT		ring finger protein 17							109.0	107.0	108.0					13																	25448319		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25448319A>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4515A>T	13.37:g.25448319A>T	ENSP00000255324:p.Glu1505Asp					RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.E1501D|RNF17_uc001ups.2_Missense_Mutation_p.E1444D|RNF17_uc010aac.2_Missense_Mutation_p.E697D|RNF17_uc010aad.2_Missense_Mutation_p.E515D	p.E1505D	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	33	4556	+		Lung SC(185;0.0225)|Breast(139;0.077)	1505			Tudor 4.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.4515A>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477817	0.63849	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	5.27	2.82	0.32997	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.000000	0.56097	D	0.000030	T	0.19248	0.0462	L	0.52011	1.625	0.80722	D	1	D;P;D;D	0.76494	0.998;0.811;0.99;0.999	D;B;P;D	0.72625	0.965;0.44;0.852;0.978	T	0.09335	-1.0679	10	0.26408	T	0.33	-18.7649	4.5641	0.12175	0.5937:0.1572:0.2491:0.0	.	1501;515;1499;1505	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	D	1505;1463;829;515	ENSP00000255324:E1505D;ENSP00000371346:E1463D;ENSP00000388892:E829D;ENSP00000344776:E515D	ENSP00000255324:E1505D	E	+	3	2	RNF17	24346319	0.904000	0.30761	1.000000	0.80357	0.982000	0.71751	0.068000	0.14531	0.323000	0.23307	0.397000	0.26171	GAA		0.328	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		31	36	0	0	0	0	31	36				
N4BP2L2	10443	broad.mit.edu	37	13	33111164	33111164	+	Splice_Site	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:33111164T>A	ENST00000267068.3	-	2	165	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	N4BP2L2_ENST00000446957.2_Start_Codon_SNP_p.M1L|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Splice_Site_p.M1L|N4BP2L2_ENST00000504114.1_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	1					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CCATAAGACATCTGAGAAATA	0.289																																						uc001uuk.3		NA																	0					0						c.(1-3)ATG>TTG		phosphonoformate immuno-associated protein 5							52.0	48.0	50.0					13																	33111164		2203	4300	6503	SO:0001630	splice_region_variant	10443							g.chr13:33111164T>A	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1-1A>T	13.37:g.33111164T>A						N4BP2L2_uc010abe.1_Missense_Mutation_p.M1L|N4BP2L2_uc010tdz.1_Intron|N4BP2L2_uc001uul.1_Missense_Mutation_p.M1L|N4BP2L2_uc001uum.2_5'Flank	p.M1L	NM_014887	NP_055702	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	2	179	-		Lung SC(185;0.0262)	1					A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	c.1A>T	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.401980	0.42613	.	.	ENSG00000244754	ENST00000399396;ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.52295	0.75;0.67;0.67	5.3	4.09	0.47781	.	.	.	.	.	T	0.46619	0.1402	.	.	.	0.80722	D	1	P;P;B	0.43750	0.724;0.816;0.355	B;B;B	0.43155	0.41;0.31;0.1	T	0.47086	-0.9144	8	0.87932	D	0	.	10.0986	0.42491	0.1496:0.0:0.0:0.8504	.	1;1;1	Q92802-3;D6R968;Q92802	.;.;N42L2_HUMAN	L	1	ENSP00000394239:M1L;ENSP00000423362:M1L;ENSP00000267068:M1L	ENSP00000267068:M1L	M	-	1	0	N4BP2L2	32009164	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	4.544000	0.60691	0.812000	0.34326	0.260000	0.18958	ATG		0.289	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887	Missense_Mutation	10	14	0	0	0	0	10	14				
NBEA	26960	broad.mit.edu	37	13	35619136	35619137	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:35619136_35619137GG>AA	ENST00000400445.3	+	3	1113_1114	c.579_580GG>AA	c.(577-582)aaGGag>aaAAag	p.E194K	NBEA_ENST00000540320.1_Missense_Mutation_p.E194K|NBEA_ENST00000310336.4_Missense_Mutation_p.E194K|NBEA_ENST00000379939.2_Missense_Mutation_p.E194K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	194					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)		TCACTGTCAAGGAGTTGAAGCT	0.416																																						uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(577-582)AAGGAG>AAAAAG		neurobeachin																																				SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35619136_35619137GG>AA	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	Exception_encountered	13.37:g.35619136_35619137delinsAA	ENSP00000383295:p.Glu194Lys						p.E194K	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)	4	785_786	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	194					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	DNP	ENST00000400445.3	37	c.579_580GG>AA	CCDS45026.1																																																																																				0.416	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		9	14	0	0	0	0	9	14				
PCDH8	5100	broad.mit.edu	37	13	53419596	53419596	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:53419596C>T	ENST00000377942.3	-	2	3006	c.2803G>A	c.(2803-2805)Gct>Act	p.A935T	PCDH8_ENST00000338862.4_Missense_Mutation_p.A838T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	935					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTTTTCAGAGCGTCCCCGCTG	0.522																																					GBM(36;25 841 9273 49207)	uc001vhi.2		NA																	0				breast(1)	1						c.(2803-2805)GCT>ACT		protocadherin 8 isoform 1 precursor							170.0	134.0	146.0					13																	53419596		2203	4300	6503	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53419596C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2803G>A	13.37:g.53419596C>T	ENSP00000367177:p.Ala935Thr					PCDH8_uc001vhj.2_Missense_Mutation_p.A838T	p.A935T	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	2	3006	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	935			Cytoplasmic (Potential).		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2803G>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079967	0.36662	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.54866	0.62;0.55	5.12	4.26	0.50523	.	0.359311	0.20071	N	0.099874	T	0.46698	0.1406	L	0.43152	1.355	0.38796	D	0.955083	B;B	0.22146	0.065;0.039	B;B	0.15052	0.012;0.005	T	0.44847	-0.9301	10	0.49607	T	0.09	.	15.4572	0.75325	0.0:0.8604:0.1396:0.0	.	838;935	O95206-2;O95206	.;PCDH8_HUMAN	T	935;838;461;778	ENSP00000367177:A935T;ENSP00000341350:A838T	ENSP00000341350:A838T	A	-	1	0	PCDH8	52317597	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.294000	0.59043	1.103000	0.41568	0.563000	0.77884	GCT		0.522	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		7	74	0	0	0	0	7	74				
MYCBP2	23077	broad.mit.edu	37	13	77632376	77632376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:77632376G>A	ENST00000544440.2	-	78	13209	c.13192C>T	c.(13192-13194)Ctc>Ttc	p.L4398F	MYCBP2_ENST00000357337.6_Missense_Mutation_p.L4398F|MYCBP2_ENST00000407578.2_Missense_Mutation_p.L4436F					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)		GCTGCCGAGAGCGCTTCGGTG	0.458																																						uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(13192-13194)CTC>TTC		MYC binding protein 2							170.0	150.0	157.0					13																	77632376		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77632376G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13192C>T	13.37:g.77632376G>A	ENSP00000444596:p.Leu4398Phe					MYCBP2_uc010aev.2_Missense_Mutation_p.L3802F|MYCBP2_uc001vke.2_Missense_Mutation_p.L1015F	p.L4398F	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	79	13283	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4398			RING-type; atypical.			Missense_Mutation	SNP	ENST00000544440.2	37	c.13192C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.928228|4.928228	0.92389|0.92389	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000429715|ENST00000357337;ENST00000407578;ENST00000544440	T|T;T;T	0.40225|0.62364	1.04|0.04;0.03;0.04	5.26|5.26	5.26|5.26	0.73747|0.73747	.|Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.80019|0.80019	0.4547|0.4547	M|M	0.75884|0.75884	2.315|2.315	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.79108	.|0.992	T|T	0.82026|0.82026	-0.0661|-0.0661	7|10	0.72032|0.87932	D|D	0.01|0	.|.	19.2301|19.2301	0.93834|0.93834	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|4398	.|O75592	.|MYCB2_HUMAN	V|F	818|4398;4436;4398	ENSP00000413907:A818V|ENSP00000349892:L4398F;ENSP00000384288:L4436F;ENSP00000444596:L4398F	ENSP00000413907:A818V|ENSP00000349892:L4398F	A|L	-|-	2|1	0|0	MYCBP2|MYCBP2	76530377|76530377	1.000000|1.000000	0.71417|0.71417	0.887000|0.887000	0.34795|0.34795	0.654000|0.654000	0.38779|0.38779	9.420000|9.420000	0.97426|0.97426	2.624000|2.624000	0.88883|0.88883	0.585000|0.585000	0.79938|0.79938	GCT|CTC		0.458	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		49	105	0	0	0	0	49	105				
SLITRK5	26050	broad.mit.edu	37	13	88329860	88329860	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:88329860C>A	ENST00000325089.6	+	2	2436	c.2217C>A	c.(2215-2217)ccC>ccA	p.P739P	SLITRK5_ENST00000400028.3_Silent_p.P498P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	739					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCGCGCTGCCCAAGGTGAAGA	0.667																																						uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2215-2217)CCC>CCA		SLIT and NTRK-like family, member 5 precursor							43.0	47.0	45.0					13																	88329860		2201	4291	6492	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88329860C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2217C>A	13.37:g.88329860C>A						SLITRK5_uc010tic.1_Silent_p.P498P	p.P739P	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2436	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		739			Cytoplasmic (Potential).		B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.2217C>A	CCDS9465.1																																																																																				0.667	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			37	101	1	0	1.91e-15	2.2e-15	37	101				
GPC6	10082	broad.mit.edu	37	13	95055462	95055462	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:95055462G>T	ENST00000377047.4	+	9	2274	c.1659G>T	c.(1657-1659)ctG>ctT	p.L553L		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	553					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGCAGAGACTGTGCAGATAAT	0.517																																						uc001vlt.2		NA																	0					0						c.(1657-1659)CTG>CTT		glypican 6 precursor							54.0	46.0	48.0					13																	95055462		2203	4300	6503	SO:0001819	synonymous_variant	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:95055462G>T	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1659G>T	13.37:g.95055462G>T							p.L553L	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			9	2291	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	553					A8K279|Q96SG5|Q96SG8|Q9H1P4	Silent	SNP	ENST00000377047.4	37	c.1659G>T	CCDS9469.1																																																																																				0.517	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		6	41	1	0	8.13e-05	8.57e-05	6	41				
DOCK9	23348	broad.mit.edu	37	13	99566619	99566619	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:99566619C>T	ENST00000376460.1	-	9	1003	c.923G>A	c.(922-924)gGt>gAt	p.G308D	DOCK9_ENST00000339416.2_Missense_Mutation_p.G309D|DOCK9_ENST00000442173.1_Missense_Mutation_p.G308D|DOCK9_ENST00000448493.2_Missense_Mutation_p.G320D	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	309					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TAAACCGGAACCAGAACCTTC	0.393																																						uc001vnt.2		NA																	0				central_nervous_system(1)	1						c.(925-927)GGT>GAT		dedicator of cytokinesis 9 isoform a							76.0	71.0	72.0					13																	99566619		1872	4109	5981	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99566619C>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.923G>A	13.37:g.99566619C>T	ENSP00000365643:p.Gly308Asp					DOCK9_uc001vnw.2_Missense_Mutation_p.G308D|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.G309D|DOCK9_uc010tis.1_Missense_Mutation_p.G308D|DOCK9_uc010tit.1_Missense_Mutation_p.G309D|DOCK9_uc010afu.1_Missense_Mutation_p.G124D	p.G309D	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			9	981	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		309					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.926G>A	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260121	0.23051	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.03065	4.06;4.06;4.06;4.06	6.16	4.41	0.53225	.	0.747484	0.13642	N	0.372862	T	0.03434	0.0099	N	0.24115	0.695	0.31369	N	0.68043	B;B;B;B;B	0.18863	0.0;0.031;0.031;0.001;0.0	B;B;B;B;B	0.21360	0.001;0.034;0.034;0.009;0.001	T	0.18398	-1.0338	9	.	.	.	.	11.8077	0.52165	0.1082:0.6763:0.2155:0.0	.	309;308;308;308;309	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	D	308;309;309;309;308;309;320;308	ENSP00000365643:G308D;ENSP00000341086:G309D;ENSP00000401958:G320D;ENSP00000406883:G308D	.	G	-	2	0	DOCK9	98364620	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.245000	0.43133	1.619000	0.50296	0.650000	0.86243	GGT		0.393	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		5	13	0	0	0	0	5	13				
MYO16	23026	broad.mit.edu	37	13	109475526	109475526	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:109475526T>A	ENST00000357550.2	+	8	972	c.931T>A	c.(931-933)Tgg>Agg	p.W311R	MYO16_ENST00000251041.5_Missense_Mutation_p.W311R|MYO16_ENST00000356711.2_Missense_Mutation_p.W311R	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGAAATTGCCTGGGAAGAAAA	0.393																																						uc001vqt.1		NA																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(931-933)TGG>AGG		myosin heavy chain Myr 8							127.0	141.0	137.0					13																	109475526		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109475526T>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.931T>A	13.37:g.109475526T>A	ENSP00000350160:p.Trp311Arg					MYO16_uc010agk.1_Missense_Mutation_p.W333R|MYO16_uc001vqu.1_Missense_Mutation_p.W111R	p.W311R	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		9	1057	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		311						Missense_Mutation	SNP	ENST00000357550.2	37	c.931T>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.651316	0.67472	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	T;T;T	0.80909	-1.43;-1.43;-1.15	5.36	5.36	0.76844	Ankyrin repeat-containing domain (2);	0.000000	0.38605	U	0.001623	D	0.87712	0.6246	M	0.73598	2.24	0.80722	D	1	D;D	0.71674	0.993;0.998	P;D	0.64595	0.898;0.927	D	0.88022	0.2769	9	.	.	.	.	13.0767	0.59091	0.0:0.0:0.0:1.0	.	311;311	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	R	311;311;311;311;99	ENSP00000349145:W311R;ENSP00000350160:W311R;ENSP00000251041:W311R	.	W	+	1	0	MYO16	108273527	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.919000	0.63383	2.025000	0.59659	0.482000	0.46254	TGG		0.393	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		48	141	0	0	0	0	48	141				
ARHGEF7	8874	broad.mit.edu	37	13	111919973	111919973	+	Silent	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr13:111919973T>C	ENST00000375741.2	+	10	1342	c.1092T>C	c.(1090-1092)taT>taC	p.Y364Y	ARHGEF7_ENST00000370623.3_Silent_p.Y271Y|ARHGEF7_ENST00000375736.4_Silent_p.Y186Y|ARHGEF7_ENST00000426073.2_Silent_p.Y186Y|ARHGEF7_ENST00000478679.1_Silent_p.Y108Y|ARHGEF7_ENST00000218789.5_Silent_p.Y186Y|ARHGEF7_ENST00000375723.1_Silent_p.Y186Y|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375739.2_Silent_p.Y314Y|ARHGEF7_ENST00000375737.5_Silent_p.Y261Y|ARHGEF7_ENST00000544132.1_Silent_p.L67L|ARHGEF7_ENST00000317133.5_Silent_p.Y343Y	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	364	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACCTCACGTATTGTGCCAATC	0.532																																						uc001vrs.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1090-1092)TAT>TAC		PAK-interacting exchange factor beta isoform c							194.0	140.0	158.0					13																	111919973		2203	4300	6503	SO:0001819	synonymous_variant	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111919973T>C	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1092T>C	13.37:g.111919973T>C						ARHGEF7_uc001vrr.2_Silent_p.Y343Y|ARHGEF7_uc001vrt.2_Silent_p.Y314Y|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Silent_p.Y186Y|ARHGEF7_uc001vrv.3_Silent_p.Y186Y|ARHGEF7_uc001vrw.3_Silent_p.Y186Y|ARHGEF7_uc001vrx.3_Silent_p.Y186Y|ARHGEF7_uc010tjo.1_Silent_p.Y261Y|ARHGEF7_uc010tjp.1_Silent_p.Y108Y|ARHGEF7_uc010agn.1_Silent_p.Y108Y	p.Y364Y	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		10	1342	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		364			DH.		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Silent	SNP	ENST00000375741.2	37	c.1092T>C	CCDS45068.1																																																																																				0.532	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		30	60	0	0	0	0	30	60				
OR11H4	390442	broad.mit.edu	37	14	20711094	20711094	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:20711094C>T	ENST00000315409.2	+	1	197	c.144C>T	c.(142-144)acC>acT	p.T48T		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATGTCTTGACCTTGCTGGGAA	0.443																																						uc010tld.1		NA																	0				ovary(1)	1						c.(142-144)ACC>ACT		olfactory receptor, family 11, subfamily H,							104.0	92.0	96.0					14																	20711094		2203	4300	6503	SO:0001819	synonymous_variant	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711094C>T		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.144C>T	14.37:g.20711094C>T							p.T48T	NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	144	+	all_cancers(95;0.000888)		48			Helical; Name=1; (Potential).		B2RNQ4|Q6IF07	Silent	SNP	ENST00000315409.2	37	c.144C>T	CCDS32034.1																																																																																				0.443	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			30	60	0	0	0	0	30	60				
TOX4	9878	broad.mit.edu	37	14	21955828	21955828	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:21955828G>A	ENST00000405508.1	+	4	570	c.294G>A	c.(292-294)ggG>ggA	p.G98G	TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000448790.2_Silent_p.G75G|TOX4_ENST00000262709.3_Silent_p.G98G			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	98						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGGGCGGGGGGCTCCTGAGTG	0.557																																						uc001waz.2		NA																	0				ovary(1)	1						c.(292-294)GGG>GGA		epidermal Langerhans cell protein LCP1							52.0	54.0	54.0					14																	21955828		2203	4300	6503	SO:0001819	synonymous_variant	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21955828G>A	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.294G>A	14.37:g.21955828G>A						TOX4_uc001way.2_5'UTR|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.G75G|TOX4_uc010tlv.1_Intron	p.G98G	NM_014828	NP_055643	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	3	397	+	all_cancers(95;0.000465)		98					B4DPY8|B4DSM0|E7EV69	Silent	SNP	ENST00000405508.1	37	c.294G>A	CCDS32043.1																																																																																				0.557	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		35	55	0	0	0	0	35	55				
CTAGE5	4253	broad.mit.edu	37	14	39764138	39764138	+	Missense_Mutation	SNP	A	A	G	rs150627486	byFrequency	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:39764138A>G	ENST00000280083.3	+	8	891	c.577A>G	c.(577-579)Acc>Gcc	p.T193A	CTAGE5_ENST00000556148.1_Missense_Mutation_p.T118A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.T164A|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.T728A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.T198A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.T113A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.T164A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.T181A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.T193A|CTAGE5_ENST00000341502.5_Missense_Mutation_p.T193A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.T164A			O15320	CTGE5_HUMAN	CTAGE family, member 5	193					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GGCCAAAATGACCTTCAAGAT	0.313													A|||	3	0.000599042	0.0023	0.0	5008	,	,		20565	0.0		0.0	False		,,,				2504	0.0					uc001wvg.3		NA																	0					0						c.(577-579)ACC>GCC		CTAGE family, member 5 isoform 1		A	ALA/THR,ALA/THR,ALA/THR,ALA/THR	30,4376	35.2+/-66.4	0,30,2173	92.0	96.0	95.0		577,541,577,490	5.7	1.0	14	dbSNP_134	95	0,8600		0,0,4300	yes	missense,missense,missense,missense	CTAGE5	NM_005930.3,NM_203354.2,NM_203355.2,NM_203356.2	58,58,58,58	0,30,6473	GG,GA,AA		0.0,0.6809,0.2307	benign,benign,benign,benign	193/805,181/793,193/762,164/776	39764138	30,12976	2203	4300	6503	SO:0001583	missense	4253						enzyme activator activity|protein binding	g.chr14:39764138A>G	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.577A>G	14.37:g.39764138A>G	ENSP00000280083:p.Thr193Ala					CTAGE5_uc010tqe.1_Missense_Mutation_p.T155A|CTAGE5_uc001wuz.3_Missense_Mutation_p.T181A|CTAGE5_uc001wuy.3_Missense_Mutation_p.T113A|CTAGE5_uc001wvb.3_Missense_Mutation_p.T164A|CTAGE5_uc001wvc.3_Missense_Mutation_p.T138A|CTAGE5_uc001wva.3_Missense_Mutation_p.T164A|CTAGE5_uc001wve.1_Missense_Mutation_p.T169A|CTAGE5_uc001wvh.3_Missense_Mutation_p.T193A|CTAGE5_uc001wvf.3_Missense_Mutation_p.T118A|CTAGE5_uc001wvi.3_Missense_Mutation_p.T198A|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Missense_Mutation_p.T164A	p.T193A	NM_005930	NP_005921	O15320	CTGE5_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)	8	913	+	Hepatocellular(127;0.213)		193			Potential.		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.577A>G	CCDS9674.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	12.60	1.986596	0.35036	0.006809	0.0	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;D;T;T	0.82433	2.34;-0.99;2.34;-0.99;-0.99;-0.58;-0.99;-1.61;-0.99;-0.99	5.69	5.69	0.88448	.	0.247105	0.21140	N	0.079493	T	0.74023	0.3662	L	0.49513	1.565	0.42985	D	0.994478	B;B;B;B;B;B	0.26602	0.154;0.052;0.011;0.052;0.011;0.052	B;B;B;B;B;B	0.30782	0.12;0.084;0.068;0.084;0.068;0.084	T	0.73219	-0.4052	9	.	.	.	.	13.4659	0.61254	1.0:0.0:0.0:0.0	.	155;198;193;193;164;181	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	A	728;181;113;155;164;193;198;193;118;193;164	ENSP00000452252:T728A;ENSP00000343897:T181A;ENSP00000450869:T113A;ENSP00000379468:T164A;ENSP00000339286:T193A;ENSP00000379462:T198A;ENSP00000280083:T193A;ENSP00000452562:T118A;ENSP00000343912:T193A;ENSP00000450449:T164A	.	T	+	1	0	CTAGE5;RP11-407N17.3	38833889	1.000000	0.71417	0.998000	0.56505	0.045000	0.14185	5.519000	0.67074	2.161000	0.67846	0.455000	0.32223	ACC		0.313	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		4	88	0	0	0	0	4	88				
NIN	51199	broad.mit.edu	37	14	51259494	51259494	+	Missense_Mutation	SNP	G	G	A	rs200932073		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:51259494G>A	ENST00000382041.3	-	5	561	c.371C>T	c.(370-372)aCg>aTg	p.T124M	NIN_ENST00000324330.9_Missense_Mutation_p.T124M|NIN_ENST00000486200.1_5'UTR|NIN_ENST00000530997.2_Missense_Mutation_p.T124M|NIN_ENST00000382043.4_Missense_Mutation_p.T124M|NIN_ENST00000453196.1_Missense_Mutation_p.T124M|NIN_ENST00000245441.5_Missense_Mutation_p.T124M|NIN_ENST00000389868.3_Missense_Mutation_p.T124M	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	124					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTCAATCACCGTCACTTCAGG	0.542			T	PDGFRB	MPD																																	uc001wym.2		NA		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(370-372)ACG>ATG		ninein isoform 5		G	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	107.0	87.0	94.0		371,371,371,371	4.8	1.0	14		94	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	NIN	NM_016350.4,NM_020921.3,NM_182944.2,NM_182946.1	81,81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	124/1378,124/2134,124/2047,124/2091	51259494	1,13005	2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51259494G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.371C>T	14.37:g.51259494G>A	ENSP00000371472:p.Thr124Met					NIN_uc001wyi.2_Missense_Mutation_p.T124M|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.T124M|NIN_uc010tqp.1_Missense_Mutation_p.T130M|NIN_uc001wyo.2_Missense_Mutation_p.T124M|NIN_uc001wyp.1_Missense_Mutation_p.T86M	p.T124M	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			5	562	-	all_epithelial(31;0.00244)|Breast(41;0.127)		124					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.371C>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010098	0.75046	0.0	1.16E-4	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83	5.73	4.79	0.61399	.	0.411677	0.29300	N	0.012542	T	0.48295	0.1492	L	0.57536	1.79	0.36112	D	0.844857	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.991;0.988;0.982;0.962;0.983	T	0.57027	-0.7881	10	0.66056	D	0.02	-12.083	17.1763	0.86842	0.0:0.137:0.863:0.0	.	130;124;124;124;124	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	M	124;124;124;124;130;124;124;124;86	ENSP00000245441:T124M;ENSP00000374518:T124M;ENSP00000371474:T124M;ENSP00000371472:T124M;ENSP00000324210:T124M;ENSP00000412391:T124M;ENSP00000398641:T86M	ENSP00000245441:T124M	T	-	2	0	NIN	50329244	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.210000	0.58500	2.694000	0.91930	0.655000	0.94253	ACG		0.542	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		26	45	0	0	0	0	26	45				
PRKCH	5583	broad.mit.edu	37	14	61917604	61917604	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:61917604C>T	ENST00000332981.5	+	6	1132	c.747C>T	c.(745-747)agC>agT	p.S249S	PRKCH_ENST00000555082.1_Silent_p.S88S	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	249					blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		ACAAGTTCAGCATCCACAACT	0.438																																					Melanoma(135;863 1779 8064 14443 26348)	uc001xfn.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6						c.(745-747)AGC>AGT		protein kinase C, eta							177.0	139.0	152.0					14																	61917604		2203	4300	6503	SO:0001819	synonymous_variant	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61917604C>T	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.747C>T	14.37:g.61917604C>T						PRKCH_uc010tsa.1_Silent_p.S88S	p.S249S	NM_006255	NP_006246	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	6	1052	+			249			Phorbol-ester/DAG-type 2.		B4DJN5|Q16246|Q8NE03	Silent	SNP	ENST00000332981.5	37	c.747C>T	CCDS9752.1																																																																																				0.438	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		23	38	0	0	0	0	23	38				
ALKBH1	8846	broad.mit.edu	37	14	78161201	78161201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:78161201C>T	ENST00000216489.3	-	3	350	c.335G>A	c.(334-336)tGg>tAg	p.W112*	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	112					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CACCCAGTGCCACTGGTAACC	0.418																																						uc001xuc.1		NA																	0				ovary(1)|skin(1)	2						c.(334-336)TGG>TAG		alkylated DNA repair protein alkB homolog							90.0	88.0	89.0					14																	78161201		2203	4300	6503	SO:0001587	stop_gained	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78161201C>T	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.335G>A	14.37:g.78161201C>T	ENSP00000216489:p.Trp112*					ALKBH1_uc001xud.1_Intron	p.W112*	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	3	344	-			112					Q8TAU1|Q9ULA7	Nonsense_Mutation	SNP	ENST00000216489.3	37	c.335G>A	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865046	0.91511	.	.	ENSG00000100601	ENST00000216489	.	.	.	6.17	6.17	0.99709	.	0.349556	0.34580	N	0.003844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-23.2562	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	.	.	.	X	112	.	ENSP00000216489:W112X	W	-	2	0	ALKBH1	77230954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.434000	0.59935	2.941000	0.99782	0.655000	0.94253	TGG		0.418	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		27	51	0	0	0	0	27	51				
RCOR1	23186	broad.mit.edu	37	14	103148296	103148296	+	Silent	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr14:103148296A>G	ENST00000570597.1	+	3	417	c.417A>G	c.(415-417)caA>caG	p.Q139Q	RCOR1_ENST00000262241.6_Silent_p.Q142Q			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	139	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CACCCAATCAAAATCTGTCAG	0.373																																						uc001ymb.2		NA																	0				ovary(1)	1						c.(415-417)CAA>CAG		REST corepressor 1							104.0	94.0	97.0					14																	103148296		2203	4300	6503	SO:0001819	synonymous_variant	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103148296A>G	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.417A>G	14.37:g.103148296A>G							p.Q139Q	NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN			3	417	+			139			Interaction with HDAC1.|ELM2.		Q15044|Q6P2I9|Q86VG5	Silent	SNP	ENST00000570597.1	37	c.417A>G																																																																																					0.373	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		13	18	0	0	0	0	13	18				
MAGEL2	54551	broad.mit.edu	37	15	23890016	23890016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:23890016C>T	ENST00000532292.1	-	1	1159	c.1065G>A	c.(1063-1065)tgG>tgA	p.W355*		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	238	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.W387L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGGCCCTTCCCAGCCACTCA	0.672																																						uc001ywj.3		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1063-1065)TGG>TGA		MAGE-like protein 2							23.0	25.0	24.0					15																	23890016		1848	4092	5940	SO:0001587	stop_gained	54551							g.chr15:23890016C>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1065G>A	15.37:g.23890016C>T	ENSP00000433433:p.Trp355*						p.W355*	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1160	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Nonsense_Mutation	SNP	ENST00000532292.1	37	c.1065G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.729526	0.96856	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.57	3.57	0.40892	.	.	.	.	.	T	0.61085	0.2319	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58858	-0.7562	4	.	.	.	.	10.9872	0.47528	0.0:1.0:0.0:0.0	.	.	.	.	E	387	.	.	G	-	2	0	MAGEL2	21441109	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	2.549000	0.45803	2.290000	0.77057	0.655000	0.94253	GGG		0.672	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		19	29	0	0	0	0	19	29				
NUTM1	256646	broad.mit.edu	37	15	34640628	34640628	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:34640628C>T	ENST00000333756.4	+	2	630	c.475C>T	c.(475-477)Ccg>Tcg	p.P159S	NUTM1_ENST00000537011.1_Missense_Mutation_p.P187S|NUTM1_ENST00000438749.3_Missense_Mutation_p.P177S	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	159	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCCAGGCCTTCCGCCTCAGCC	0.587																																						uc001zif.2		NA								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(475-477)CCG>TCG		nuclear protein in testis							50.0	43.0	45.0					15																	34640628		2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34640628C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.475C>T	15.37:g.34640628C>T	ENSP00000329448:p.Pro159Ser					C15orf55_uc010ucc.1_Missense_Mutation_p.P187S|C15orf55_uc010ucd.1_Missense_Mutation_p.P177S	p.P159S	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	2	630	+		all_lung(180;2.78e-08)	159			Pro-rich.		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.475C>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	1.258	-0.616748	0.03663	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.44482	0.92;0.92;0.92	5.04	3.11	0.35812	Nuclear Testis  protein, N-terminal (1);	0.524029	0.17715	N	0.164460	T	0.38719	0.1051	L	0.50333	1.59	0.09310	N	1	B;B;P	0.48998	0.028;0.023;0.918	B;B;P	0.49192	0.019;0.011;0.602	T	0.13764	-1.0497	10	0.17369	T	0.5	.	5.8155	0.18490	0.1908:0.7121:0.0:0.0971	.	177;187;159	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	S	187;177;159;159	ENSP00000444896:P187S;ENSP00000407031:P177S;ENSP00000329448:P159S	ENSP00000329448:P159S	P	+	1	0	C15orf55	32427920	0.004000	0.15560	0.010000	0.14722	0.005000	0.04900	0.115000	0.15540	0.672000	0.31204	0.563000	0.77884	CCG		0.587	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		11	28	0	0	0	0	11	28				
TMEM87A	25963	broad.mit.edu	37	15	42560198	42560198	+	Missense_Mutation	SNP	T	T	C	rs374342321		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:42560198T>C	ENST00000389834.4	-	3	502	c.238A>G	c.(238-240)Ata>Gta	p.I80V	TMEM87A_ENST00000448392.1_Missense_Mutation_p.I19V|TMEM87A_ENST00000568432.1_De_novo_Start_OutOfFrame|TMEM87A_ENST00000307216.6_Missense_Mutation_p.I80V	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	80						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TACCAGGTTATATTCAAAGAC	0.323																																						uc010udd.1		NA																	0				ovary(1)	1						c.(238-240)ATA>GTA		transmembrane protein 87A isoform 1		T	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	98.0	98.0	98.0		238,238	-1.3	1.0	15		98	0,8596		0,0,4298	no	missense,missense	TMEM87A	NM_001110503.1,NM_015497.3	29,29	0,1,6500	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	80/182,80/556	42560198	1,13001	2203	4298	6501	SO:0001583	missense	25963					integral to membrane		g.chr15:42560198T>C	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.238A>G	15.37:g.42560198T>C	ENSP00000374484:p.Ile80Val					TMEM87A_uc001zpf.3_Missense_Mutation_p.I19V|TMEM87A_uc010bcu.1_Missense_Mutation_p.I19V|TMEM87A_uc001zpg.2_Missense_Mutation_p.I80V	p.I80V	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	3	397	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	80					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	ENST00000389834.4	37	c.238A>G	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	T	9.366	1.069206	0.20147	2.27E-4	0.0	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305;ENST00000307216	.	.	.	5.18	-1.34	0.09143	.	0.361859	0.28343	N	0.015698	T	0.13670	0.0331	N	0.08118	0	0.28769	N	0.900465	B;B;B	0.15930	0.001;0.015;0.0	B;B;B	0.21360	0.001;0.034;0.003	T	0.20438	-1.0275	9	0.17369	T	0.5	-4.1333	5.4124	0.16356	0.174:0.529:0.0:0.297	.	80;19;80	Q8NBN3;Q8NBN3-3;Q8NBN3-2	TM87A_HUMAN;.;.	V	80;19;56;80	.	ENSP00000305894:I80V	I	-	1	0	TMEM87A	40347490	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	0.383000	0.20651	-0.087000	0.12528	-0.400000	0.06385	ATA		0.323	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		25	46	0	0	0	0	25	46				
TRPM7	54822	broad.mit.edu	37	15	50906377	50906378	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:50906377_50906378GC>AT	ENST00000313478.7	-	14	1858_1859	c.1577_1578GC>AT	c.(1576-1578)tGC>tAT	p.C526Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.C526Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	526					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TAGTATAGGTGCATCTGTAGGT	0.327																																						uc001zyt.3		NA																	0				ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(1576-1578)TGC>TAT		transient receptor potential cation channel,																																				SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50906377_50906378GC>AT	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1577_1578delinsAT	15.37:g.50906377_50906378delinsAT	ENSP00000320239:p.Cys526Tyr					TRPM7_uc010bew.1_Missense_Mutation_p.C526Y|TRPM7_uc001zyu.2_Missense_Mutation_p.C84Y	p.C526Y	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	14	1841_1842	-			526			Cytoplasmic (Potential).		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	DNP	ENST00000313478.7	37	c.1577_1578GC>AT	CCDS42035.1																																																																																				0.327	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		18	38	0	0	0	0	18	38				
ICE2	79664	broad.mit.edu	37	15	60741642	60741642	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:60741642C>G	ENST00000261520.4	-	10	1758	c.1524G>C	c.(1522-1524)ttG>ttC	p.L508F	NARG2_ENST00000439632.1_Missense_Mutation_p.L371F	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CAGATGTTTTCAAGTCACTAT	0.333																																						uc002agp.2		NA																	0				ovary(1)|lung(1)	2						c.(1522-1524)TTG>TTC		NMDA receptor regulated 2 isoform a							77.0	80.0	79.0					15																	60741642		2203	4300	6503	SO:0001583	missense	79664					nucleus		g.chr15:60741642C>G																												ENST00000261520.4:c.1524G>C	15.37:g.60741642C>G	ENSP00000261520:p.Leu508Phe					NARG2_uc002ago.2_Missense_Mutation_p.L371F|NARG2_uc002agq.3_Missense_Mutation_p.L176F	p.L508F	NM_024611	NP_078887	Q659A1	NARG2_HUMAN			10	1759	-			508						Missense_Mutation	SNP	ENST00000261520.4	37	c.1524G>C	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	C	0.702	-0.790332	0.02884	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.65	2.08	0.27032	.	1.421170	0.04467	N	0.375384	T	0.23806	0.0576	N	0.19112	0.55	0.09310	N	1	B;P	0.34780	0.131;0.468	B;B	0.29353	0.035;0.101	T	0.15150	-1.0447	9	0.13470	T	0.59	4.3432	11.6542	0.51309	0.0:0.4631:0.4595:0.0774	.	176;508	B3KXT2;Q659A1	.;NARG2_HUMAN	F	508;371	.	ENSP00000261520:L508F	L	-	3	2	NARG2	58528934	0.000000	0.05858	0.001000	0.08648	0.173000	0.22820	0.070000	0.14573	0.656000	0.30886	0.650000	0.86243	TTG		0.333	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			28	51	0	0	0	0	28	51				
C15orf39	56905	broad.mit.edu	37	15	75498857	75498857	+	Silent	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:75498857T>C	ENST00000360639.2	+	2	788	c.468T>C	c.(466-468)gaT>gaC	p.D156D	C15orf39_ENST00000567617.1_Silent_p.D156D|C15orf39_ENST00000394987.4_Silent_p.D156D			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	156						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCACTGGATGTTGACTGGA	0.622																																						uc002azp.3		NA																	0					0						c.(466-468)GAT>GAC		hypothetical protein LOC56905							67.0	66.0	66.0					15																	75498857		2197	4295	6492	SO:0001819	synonymous_variant	56905							g.chr15:75498857T>C	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.468T>C	15.37:g.75498857T>C						C15orf39_uc002azq.3_Silent_p.D156D|C15orf39_uc002azr.3_5'Flank	p.D156D	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN			2	788	+			156					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Silent	SNP	ENST00000360639.2	37	c.468T>C	CCDS10276.1																																																																																				0.622	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		37	66	0	0	0	0	37	66				
CSPG4	1464	broad.mit.edu	37	15	75983101	75983101	+	Missense_Mutation	SNP	G	G	A	rs376877916		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:75983101G>A	ENST00000308508.5	-	3	397	c.305C>T	c.(304-306)aCg>aTg	p.T102M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	102	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.T102M(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACTCAGCAGCGTCTCTGCTGG	0.582																																						uc002baw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(304-306)ACG>ATG		chondroitin sulfate proteoglycan 4 precursor							74.0	76.0	75.0					15																	75983101		2197	4292	6489	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75983101G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.305C>T	15.37:g.75983101G>A	ENSP00000312506:p.Thr102Met						p.T102M	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	398	-			102			Extracellular (Potential).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.305C>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	8.856	0.945846	0.18356	.	.	ENSG00000173546	ENST00000308508	T	0.76448	-1.02	4.76	-2.57	0.06248	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.974748	0.08422	N	0.948158	T	0.57740	0.2074	N	0.17474	0.49	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.43540	-0.9385	10	0.39692	T	0.17	.	5.4911	0.16777	0.6183:0.0:0.2248:0.1569	.	102	Q6UVK1	CSPG4_HUMAN	M	102	ENSP00000312506:T102M	ENSP00000312506:T102M	T	-	2	0	CSPG4	73770156	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.310000	0.19356	-0.116000	0.11893	-0.263000	0.10527	ACG		0.582	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		29	66	0	0	0	0	29	66				
XYLT1	64131	broad.mit.edu	37	16	17292261	17292261	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr16:17292261T>A	ENST00000261381.6	-	5	1181	c.1097A>T	c.(1096-1098)tAc>tTc	p.Y366F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	366					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						CCGATGCAGGTAATTAGAGCG	0.587																																						uc002dfa.2		NA																	0				ovary(4)	4						c.(1096-1098)TAC>TTC		xylosyltransferase I							65.0	52.0	56.0					16																	17292261		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.chr16:17292261T>A	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.1097A>T	16.37:g.17292261T>A	ENSP00000261381:p.Tyr366Phe						p.Y366F	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			5	1182	-			366			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1097A>T	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	T	31	5.082288	0.94050	.	.	ENSG00000103489	ENST00000261381	T	0.10860	2.83	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.16981	0.0408	M	0.69185	2.1	0.80722	D	1	P	0.39624	0.681	B	0.40565	0.333	T	0.01065	-1.1463	10	0.49607	T	0.09	-37.9698	14.5306	0.67923	0.0:0.0:0.0:1.0	.	366	Q86Y38	XYLT1_HUMAN	F	366	ENSP00000261381:Y366F	ENSP00000261381:Y366F	Y	-	2	0	XYLT1	17199762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.027000	0.59764	0.533000	0.62120	TAC		0.587	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		10	17	0	0	0	0	10	17				
ACSM3	6296	broad.mit.edu	37	16	20797459	20797459	+	Silent	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr16:20797459T>G	ENST00000289416.5	+	9	1678	c.1203T>G	c.(1201-1203)ccT>ccG	p.P401P	ACSM3_ENST00000450120.2_Silent_p.P393P|ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000440284.2_Silent_p.P401P|ERI2_ENST00000300005.3_Intron|RNU6-944P_ENST00000364023.1_RNA	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	401					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGGGAAAACCTTCTCCTGCTT	0.388																																						uc002dhr.2		NA																	0				ovary(1)	1						c.(1201-1203)CCT>CCG		SA hypertension-associated homolog isoform 1							93.0	80.0	84.0					16																	20797459		2201	4300	6501	SO:0001819	synonymous_variant	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20797459T>G	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1203T>G	16.37:g.20797459T>G						ACSM3_uc002dhq.2_Silent_p.P401P|ACSM3_uc010vba.1_Silent_p.P430P|ERI2_uc002dhs.2_Intron	p.P401P	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN			9	1390	+			401					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Silent	SNP	ENST00000289416.5	37	c.1203T>G	CCDS10589.1																																																																																				0.388	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		15	23	0	0	0	0	15	23				
EARS2	124454	broad.mit.edu	37	16	23563530	23563530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr16:23563530C>G	ENST00000563459.1	-	2	241	c.235G>C	c.(235-237)Gat>Cat	p.D79H	EARS2_ENST00000564987.1_5'Flank|EARS2_ENST00000564501.1_Missense_Mutation_p.D79H|EARS2_ENST00000563232.1_Missense_Mutation_p.D79H|EARS2_ENST00000449606.1_Missense_Mutation_p.D79H			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	79					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CGAGTCTGATCTGTGTCCTCT	0.547																																						uc002dlt.3		NA																	0					0						c.(235-237)GAT>CAT		glutamyl-tRNA synthetase 2 precursor	L-Glutamic Acid(DB00142)						102.0	99.0	100.0					16																	23563530		2092	4232	6324	SO:0001583	missense	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23563530C>G	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.235G>C	16.37:g.23563530C>G	ENSP00000456467:p.Asp79His					EARS2_uc002dlr.3_5'Flank|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Missense_Mutation_p.D79H	p.D79H	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	2	267	-			79					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	c.235G>C	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066687	0.93898	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.51071	0.72	5.73	5.73	0.89815	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.84070	0.5391	H	0.99705	4.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91159	0.4959	10	0.87932	D	0	-0.5542	18.8949	0.92419	0.0:1.0:0.0:0.0	.	79;79	Q86YH3;Q5JPH6	.;SYEM_HUMAN	H	79	ENSP00000395196:D79H	ENSP00000343488:D79H	D	-	1	0	EARS2	23471031	1.000000	0.71417	0.981000	0.43875	0.994000	0.84299	7.135000	0.77276	2.710000	0.92621	0.561000	0.74099	GAT		0.547	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		35	71	0	0	0	0	35	71				
MAZ	4150	broad.mit.edu	37	16	29820025	29820025	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr16:29820025C>G	ENST00000322945.6	+	4	1407	c.1242C>G	c.(1240-1242)agC>agG	p.S414R	MAZ_ENST00000566906.2_Intron|MAZ_ENST00000568544.1_Missense_Mutation_p.S15R|AC009133.14_ENST00000563806.1_RNA|AC009133.14_ENST00000569981.1_RNA|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000219782.6_Missense_Mutation_p.S414R|MAZ_ENST00000545521.1_Missense_Mutation_p.S391R|MAZ_ENST00000568282.1_Missense_Mutation_p.S15R|MAZ_ENST00000562337.1_Missense_Mutation_p.S109R|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000569978.1_Missense_Mutation_p.S15R	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	414					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGGTGCACAGCCAGGGTCCTC	0.612																																					Colon(72;875 1167 15364 30899 37091)	uc002dty.2		NA																	0				ovary(1)	1						c.(1240-1242)AGC>AGG		MYC-associated zinc finger protein isoform 1							45.0	47.0	46.0					16																	29820025		2123	4245	6368	SO:0001583	missense	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29820025C>G	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1242C>G	16.37:g.29820025C>G	ENSP00000313362:p.Ser414Arg					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Missense_Mutation_p.S391R|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Missense_Mutation_p.S414R|MAZ_uc010bzg.2_Missense_Mutation_p.S109R|MAZ_uc002dtz.1_3'UTR|MAZ_uc002dua.2_Missense_Mutation_p.S15R|MAZ_uc010vdy.1_Missense_Mutation_p.S15R|uc002duc.1_RNA	p.S414R	NM_002383	NP_002374	P56270	MAZ_HUMAN			4	1410	+			414					A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	ENST00000322945.6	37	c.1242C>G	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110964	0.77210	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782;ENST00000544343	T;T;T	0.16073	2.37;2.37;4.66	5.3	5.3	0.74995	.	0.051067	0.85682	D	0.000000	T	0.34803	0.0910	L	0.56769	1.78	0.43536	D	0.99582	P;D;D;D	0.57257	0.93;0.964;0.979;0.958	B;P;P;P	0.57846	0.36;0.828;0.824;0.563	T	0.03068	-1.1076	10	0.87932	D	0	-7.6892	16.8298	0.85941	0.0:1.0:0.0:0.0	.	391;189;414;414	C6G496;F5H7A6;P56270;G5E927	.;.;MAZ_HUMAN;.	R	391;414;414;189	ENSP00000443956:S391R;ENSP00000313362:S414R;ENSP00000219782:S414R	ENSP00000219782:S414R	S	+	3	2	MAZ	29727526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.949000	0.40313	2.648000	0.89879	0.655000	0.94253	AGC		0.612	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		12	18	0	0	0	0	12	18				
FBXL19	54620	broad.mit.edu	37	16	30958233	30958233	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr16:30958233C>G	ENST00000380310.2	+	10	2028	c.1870C>G	c.(1870-1872)Cca>Gca	p.P624A	ORAI3_ENST00000562699.1_5'Flank|FBXL19_ENST00000471231.2_Missense_Mutation_p.P312A|ORAI3_ENST00000566237.1_5'Flank|FBXL19_ENST00000562319.1_Missense_Mutation_p.P604A|AC135048.13_ENST00000566056.1_RNA|FBXL19_ENST00000565690.1_Missense_Mutation_p.P488A|FBXL19_ENST00000338343.4_Missense_Mutation_p.P604A|ORAI3_ENST00000318663.4_5'Flank	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	624					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CCCCACGTCCCCACTCCGCGA	0.682																																						uc002eab.2		NA																	0				ovary(2)|lung(1)|breast(1)	4						c.(1870-1872)CCA>GCA		F-box and leucine-rich repeat protein 19							16.0	20.0	18.0					16																	30958233		2117	4230	6347	SO:0001583	missense	54620						DNA binding|zinc ion binding	g.chr16:30958233C>G	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.1870C>G	16.37:g.30958233C>G	ENSP00000369666:p.Pro624Ala					FBXL19_uc002dzz.1_Missense_Mutation_p.P312A|FBXL19_uc002eaa.1_Missense_Mutation_p.P523A|ORAI3_uc002eac.2_5'Flank	p.P624A	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN			10	2028	+			624			LRR 4.		A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	c.1870C>G	CCDS45465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.20|13.20	2.166196|2.166196	0.38217|0.38217	.|.	.|.	ENSG00000099364|ENSG00000099364	ENST00000338343;ENST00000380310|ENST00000427128	T;T|.	0.02323|.	4.34;4.34|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.218239|0.218239	0.38897|0.38897	N|N	0.001524|0.001524	T|T	0.55097|0.55097	0.1899|0.1899	L|L	0.37800|0.37800	1.135|1.135	0.39741|0.39741	D|D	0.971747|0.971747	B;P|.	0.37955|.	0.066;0.612|.	B;B|.	0.34590|.	0.138;0.186|.	T|T	0.53816|0.53816	-0.8385|-0.8385	10|6	0.15066|.	T|.	0.55|.	-7.2328|-7.2328	11.5735|11.5735	0.50848|0.50848	0.0:0.9167:0.0:0.0833|0.0:0.9167:0.0:0.0833	.|.	624;581|.	Q6PCT2;Q6PCT2-2|.	FXL19_HUMAN;.|.	A|R	604;624|515	ENSP00000339712:P604A;ENSP00000369666:P624A|.	ENSP00000339712:P604A|.	P|P	+|+	1|2	0|0	FBXL19|FBXL19	30865734|30865734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	3.819000|3.819000	0.55686|0.55686	2.563000|2.563000	0.86464|0.86464	0.555000|0.555000	0.69702|0.69702	CCA|CCC		0.682	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		5	14	0	0	0	0	5	14				
ACAP1	9744	broad.mit.edu	37	17	7251469	7251469	+	Silent	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:7251469C>G	ENST00000158762.3	+	16	1643	c.1437C>G	c.(1435-1437)gtC>gtG	p.V479V	ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000570504.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	479	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.|Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGGGAAATGTCATCATCAACC	0.617																																						uc002ggd.2		NA																	0				breast(2)|large_intestine(1)	3						c.(1435-1437)GTC>GTG		centaurin beta1							63.0	53.0	57.0					17																	7251469		2203	4300	6503	SO:0001819	synonymous_variant	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7251469C>G	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1437C>G	17.37:g.7251469C>G							p.V479V	NM_014716	NP_055531	Q15027	ACAP1_HUMAN			16	1643	+			479			Arf-GAP.|Required for interaction with GULP1.		Q53XN9	Silent	SNP	ENST00000158762.3	37	c.1437C>G	CCDS11101.1																																																																																				0.617	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		7	24	0	0	0	0	7	24				
CNTROB	116840	broad.mit.edu	37	17	7839728	7839728	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:7839728G>C	ENST00000563694.1	+	5	1564	c.639G>C	c.(637-639)gaG>gaC	p.E213D	CNTROB_ENST00000380255.3_Missense_Mutation_p.E213D|CNTROB_ENST00000565740.1_Missense_Mutation_p.E213D|CNTROB_ENST00000380262.3_Missense_Mutation_p.E213D	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	213					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GAGTGTTAGAGCTACAGCAAC	0.527																																						uc002gjq.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(637-639)GAG>GAC		centrobin, centrosomal BRCA2 interacting protein							110.0	110.0	110.0					17																	7839728		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7839728G>C	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.639G>C	17.37:g.7839728G>C	ENSP00000456335:p.Glu213Asp					CNTROB_uc002gjp.2_Missense_Mutation_p.E213D|CNTROB_uc002gjr.2_Missense_Mutation_p.E115D|CNTROB_uc010vum.1_5'Flank	p.E213D	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN			6	1558	+		Prostate(122;0.173)	213			Potential.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.639G>C	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874103	0.72180	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.66280	1.08;-0.2	5.46	3.45	0.39498	.	0.000000	0.64402	D	0.000010	T	0.65770	0.2723	L	0.27053	0.805	0.37223	D	0.905349	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.80764	0.986;0.994;0.994	T	0.71056	-0.4703	10	0.51188	T	0.08	-22.2892	11.8972	0.52663	0.1541:0.0:0.8459:0.0	.	213;213;213	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	D	213	ENSP00000369614:E213D;ENSP00000369605:E213D	ENSP00000369605:E213D	E	+	3	2	CNTROB	7780453	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	1.268000	0.33062	1.451000	0.47736	-0.218000	0.12543	GAG		0.527	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		38	98	0	0	0	0	38	98				
RASD1	51655	broad.mit.edu	37	17	17399294	17399294	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:17399294G>T	ENST00000225688.3	-	1	413	c.202C>A	c.(202-204)Cgc>Agc	p.R68S	RASD1_ENST00000579152.1_Missense_Mutation_p.R68S	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	68					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						ACCTCGCCGCGGATGGAGTAG	0.672																																						uc002gri.2		NA																	0					0						c.(202-204)CGC>AGC		RAS, dexamethasone-induced 1 precursor							128.0	109.0	116.0					17																	17399294		2203	4300	6503	SO:0001583	missense	51655				G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity	g.chr17:17399294G>T	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.202C>A	17.37:g.17399294G>T	ENSP00000225688:p.Arg68Ser						p.R68S	NM_016084	NP_057168	Q9Y272	RASD1_HUMAN			1	414	-			68					B2R709|B4DFF4|Q9NYB4	Missense_Mutation	SNP	ENST00000225688.3	37	c.202C>A	CCDS11185.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690572	0.48097	.	.	ENSG00000108551	ENST00000225688	T	0.79554	-1.28	4.81	4.81	0.61882	Small GTP-binding protein domain (1);	0.107337	0.64402	D	0.000006	D	0.84147	0.5408	L	0.48642	1.525	0.80722	D	1	P	0.51933	0.949	P	0.58970	0.849	T	0.82204	-0.0573	10	0.28530	T	0.3	.	16.8723	0.86043	0.0:0.0:1.0:0.0	.	68	Q9Y272	RASD1_HUMAN	S	68	ENSP00000225688:R68S	ENSP00000225688:R68S	R	-	1	0	RASD1	17340019	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.546000	0.67243	2.199000	0.70637	0.655000	0.94253	CGC		0.672	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	NM_016084		15	72	1	0	3.41e-10	3.79e-10	15	72				
PRPSAP2	5636	broad.mit.edu	37	17	18833957	18833957	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:18833957C>T	ENST00000268835.2	+	12	1339	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	PRPSAP2_ENST00000419071.2_Silent_p.I312I|PRPSAP2_ENST00000542013.1_Silent_p.I303I|PRPSAP2_ENST00000536323.1_Silent_p.I266I	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	352					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TCCGTCGGATCCACAATGGGG	0.458																																						uc002gup.1		NA																	0				skin(1)	1						c.(1054-1056)ATC>ATT		phosphoribosyl pyrophosphate							108.0	98.0	101.0					17																	18833957		2203	4300	6503	SO:0001819	synonymous_variant	5636				nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:18833957C>T	AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.1056C>T	17.37:g.18833957C>T						PRPSAP2_uc002guo.1_Silent_p.I266I|PRPSAP2_uc010vyi.1_Silent_p.I300I|PRPSAP2_uc010vyj.1_Silent_p.I266I|PRPSAP2_uc010vyk.1_Silent_p.I291I|PRPSAP2_uc002guq.1_Silent_p.I139I	p.I352I	NM_002767	NP_002758	O60256	KPRB_HUMAN			12	1267	+			352					B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Silent	SNP	ENST00000268835.2	37	c.1056C>T	CCDS11200.1																																																																																				0.458	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132112.3	NM_002767		12	23	0	0	0	0	12	23				
SPECC1	92521	broad.mit.edu	37	17	20108048	20108048	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:20108048T>C	ENST00000261503.5	+	4	737	c.686T>C	c.(685-687)cTt>cCt	p.L229P	SPECC1_ENST00000395525.3_Missense_Mutation_p.L148P|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395530.2_Missense_Mutation_p.L148P|SPECC1_ENST00000395527.4_Missense_Mutation_p.L229P|SPECC1_ENST00000395529.3_Missense_Mutation_p.L229P|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.L148P|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000472876.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	229					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ATAAGAGCTCTTGAGGAGAAG	0.478																																						uc002gwq.2		NA																	0					0						c.(685-687)CTT>CCT		spectrin domain with coiled-coils 1 NSP5b3b							136.0	150.0	145.0					17																	20108048		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20108048T>C	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.686T>C	17.37:g.20108048T>C	ENSP00000261503:p.Leu229Pro					CYTSB_uc010cqx.2_Missense_Mutation_p.L229P|CYTSB_uc002gwr.2_Missense_Mutation_p.L229P|CYTSB_uc002gws.2_Missense_Mutation_p.L229P|CYTSB_uc002gwv.2_Missense_Mutation_p.L148P|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.L5P|CYTSB_uc002gwt.2_Missense_Mutation_p.L148P|CYTSB_uc002gwu.2_Missense_Mutation_p.L148P	p.L229P	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN			4	831	+			229					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.686T>C	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943517	0.73672	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	D;T;T;T	0.82526	-1.62;1.38;1.45;1.44	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.89801	0.6820	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.999	D	0.90344	0.4361	10	0.56958	D	0.05	-12.8889	13.468	0.61266	0.0:0.0:0.0:1.0	.	229;148;148;229;229	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	P	229;229;229;148;148;148	ENSP00000261503:L229P;ENSP00000378900:L229P;ENSP00000378893:L148P;ENSP00000378896:L148P	ENSP00000261503:L229P	L	+	2	0	SPECC1	20048640	1.000000	0.71417	0.658000	0.29665	0.910000	0.53928	7.447000	0.80620	2.134000	0.65973	0.533000	0.62120	CTT		0.478	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		33	153	0	0	0	0	33	153				
SEZ6	124925	broad.mit.edu	37	17	27283247	27283247	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:27283247C>G	ENST00000317338.12	-	16	3310	c.2882G>C	c.(2881-2883)cGc>cCc	p.R961P	SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P|SEZ6_ENST00000335960.6_Silent_p.P493P			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	961					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ggggcgggggcggggCAGCTG	0.582																																						uc002hdp.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2881-2883)CGC>CCC		seizure related 6 homolog isoform 1							7.0	10.0	9.0					17																	27283247		1889	4083	5972	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27283247C>G	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2882G>C	17.37:g.27283247C>G	ENSP00000312942:p.Arg961Pro					SEZ6_uc010crx.1_Intron|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.R961P|SEZ6_uc002hdq.1_Missense_Mutation_p.R836P	p.R961P	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		16	3076	-	Lung NSC(42;0.0137)		961			Cytoplasmic (Potential).		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.2882G>C	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298116	0.23650	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000540632	T	0.26810	1.71	5.46	-3.4	0.04853	.	1.305430	0.04903	N	0.451599	T	0.26484	0.0647	L	0.57536	1.79	0.09310	N	0.999999	P;B	0.34757	0.467;0.275	B;B	0.38880	0.284;0.105	T	0.44128	-0.9348	10	0.62326	D	0.03	.	5.5265	0.16960	0.2225:0.2315:0.0:0.546	.	961;961	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	P	961;961;836;78	ENSP00000353440:R961P	ENSP00000312942:R836P	R	-	2	0	SEZ6	24307373	0.002000	0.14202	0.010000	0.14722	0.764000	0.43329	-0.016000	0.12613	-0.387000	0.07809	0.491000	0.48974	CGC		0.582	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			3	13	0	0	0	0	3	13				
GGNBP2	79893	broad.mit.edu	37	17	34943490	34943490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:34943490C>T	ENST00000304718.4	+	13	2021	c.1705C>T	c.(1705-1707)Cac>Tac	p.H569Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	569					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				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)		AAATACCATGCACACAGTGTT	0.463																																						uc002hnb.2		NA																	0				ovary(2)	2						c.(1705-1707)CAC>TAC		zinc finger protein 403							116.0	111.0	112.0					17																	34943490		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34943490C>T	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.1705C>T	17.37:g.34943490C>T	ENSP00000307617:p.His569Tyr						p.H569Y	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	13	1954	+		Breast(25;0.00957)|Ovarian(249;0.17)	569					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.1705C>T	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514915	0.85389	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.93	5.93	0.95920	.	0.250524	0.42420	D	0.000711	T	0.58552	0.2130	N	0.08118	0	0.80722	D	1	P	0.48294	0.908	P	0.61397	0.888	T	0.65553	-0.6140	9	0.59425	D	0.04	-9.5614	18.5243	0.90965	0.0:1.0:0.0:0.0	.	569	Q9H3C7	GGNB2_HUMAN	Y	569	.	ENSP00000307617:H569Y	H	+	1	0	GGNBP2	32017603	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.732000	0.55021	2.815000	0.96918	0.561000	0.74099	CAC		0.463	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		14	64	0	0	0	0	14	64				
KRT25	147183	broad.mit.edu	37	17	38910653	38910653	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:38910653T>G	ENST00000312150.4	-	2	557	c.497A>C	c.(496-498)gAt>gCt	p.D166A		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCTGAAATCATCAGCTGTAAG	0.383																																						uc002hve.2		NA																	0				ovary(2)	2						c.(496-498)GAT>GCT		keratin 25							120.0	115.0	117.0					17																	38910653		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38910653T>G	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.497A>C	17.37:g.38910653T>G	ENSP00000310573:p.Asp166Ala						p.D166A	NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN			2	558	-		Breast(137;0.00526)	166			Rod.|Coil 1B.			Missense_Mutation	SNP	ENST00000312150.4	37	c.497A>C	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.561237	0.86335	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.88664	-2.41	5.73	5.73	0.89815	Filament (1);	0.177627	0.39834	N	0.001242	D	0.94604	0.8261	M	0.89414	3.03	0.53005	D	0.999961	P	0.50066	0.931	P	0.59012	0.85	D	0.95418	0.8504	10	0.87932	D	0	.	16.0141	0.80425	0.0:0.0:0.0:1.0	.	166	Q7Z3Z0	K1C25_HUMAN	A	166	ENSP00000310573:D166A	ENSP00000310573:D166A	D	-	2	0	KRT25	36164179	1.000000	0.71417	0.983000	0.44433	0.883000	0.51084	7.689000	0.84165	2.181000	0.69327	0.533000	0.62120	GAT		0.383	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		29	67	0	0	0	0	29	67				
PLEKHH3	79990	broad.mit.edu	37	17	40823110	40823111	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:40823110_40823111CC>GT	ENST00000591022.1	-	9	1709_1710	c.1322_1323GG>AC	c.(1321-1323)cGG>cAC	p.R441H	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.R441H|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.R441H	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	441	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CGTTGCGGCTCCGGGCCAAGCC	0.663																																						uc002iau.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1321-1323)CGG>CAC		pleckstrin homology domain containing, family H																																				SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40823110_40823111CC>GT	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1322_1323delinsGT	17.37:g.40823110_40823111delinsGT	ENSP00000468678:p.Arg441His					PLEKHH3_uc010cyl.1_Intron|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.R441H	p.R441H	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	9	1789_1790	-		Breast(137;0.00116)	441			FERM.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	DNP	ENST00000591022.1	37	c.1322_1323GG>AC	CCDS11434.1																																																																																				0.663	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		33	56	0	0	0	0	33	56				
MARCH10	162333	broad.mit.edu	37	17	60821758	60821758	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:60821758C>A	ENST00000311269.5	-	5	788	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L	MARCH10_ENST00000544856.2_Missense_Mutation_p.V171L|MARCH10_ENST00000583600.1_Missense_Mutation_p.V210L|MARCH10_ENST00000456609.2_Missense_Mutation_p.V172L	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	172					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.V172L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGAACCGGCACCTTTGCAGGC	0.557																																						uc010ddr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(514-516)GTG>TTG		ring finger protein 190							106.0	104.0	105.0					17																	60821758		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60821758C>A	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.514G>T	17.37:g.60821758C>A	ENSP00000311496:p.Val172Leu					MARCH10_uc002jag.3_Missense_Mutation_p.V172L|MARCH10_uc010dds.2_Missense_Mutation_p.V210L|MARCH10_uc002jah.2_Missense_Mutation_p.V171L	p.V172L	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN			5	752	-			172					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.514G>T	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	C	9.737	1.163947	0.21538	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.32272	1.46;1.46;1.46	5.25	0.998	0.19857	.	1.224440	0.05687	N	0.591576	T	0.22475	0.0542	L	0.36672	1.1	0.09310	N	1	B;B;B	0.29301	0.156;0.241;0.035	B;B;B	0.25140	0.026;0.058;0.018	T	0.24548	-1.0157	10	0.39692	T	0.17	0.6988	4.3065	0.10949	0.1591:0.5945:0.0:0.2464	.	171;171;172	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	L	172;172;171	ENSP00000416177:V172L;ENSP00000311496:V172L;ENSP00000443746:V171L	ENSP00000311496:V172L	V	-	1	0	MARCH10	58175490	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.513000	0.22770	0.079000	0.16929	0.561000	0.74099	GTG		0.557	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		52	96	1	0	3.89e-19	4.56e-19	52	96				
TEX2	55852	broad.mit.edu	37	17	62290905	62290905	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:62290905T>A	ENST00000583097.1	-	2	845	c.673A>T	c.(673-675)Act>Tct	p.T225S	TEX2_ENST00000258991.3_Missense_Mutation_p.T225S|TEX2_ENST00000584379.1_Missense_Mutation_p.T225S			Q8IWB9	TEX2_HUMAN	testis expressed 2	225					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TGCCGGGAAGTGTCCGTGGAC	0.532																																						uc002jec.2		NA																	0				ovary(1)	1						c.(673-675)ACT>TCT		testis expressed sequence 2							116.0	120.0	118.0					17																	62290905		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62290905T>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.673A>T	17.37:g.62290905T>A	ENSP00000462665:p.Thr225Ser					TEX2_uc002jed.2_Missense_Mutation_p.T225S|TEX2_uc002jee.2_Missense_Mutation_p.T225S	p.T225S	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	846	-			225					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.673A>T		.	.	.	.	.	.	.	.	.	.	T	12.60	1.987488	0.35036	.	.	ENSG00000136478	ENST00000258991	T	0.56275	0.47	6.03	4.95	0.65309	.	0.096890	0.64402	D	0.000001	T	0.65123	0.2661	L	0.56769	1.78	0.50171	D	0.999853	D;D	0.69078	0.997;0.996	D;P	0.68192	0.956;0.904	T	0.61608	-0.7028	10	0.27082	T	0.32	-8.583	12.25	0.54593	0.0:0.0662:0.0:0.9338	.	225;225	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	S	225	ENSP00000258991:T225S	ENSP00000258991:T225S	T	-	1	0	TEX2	59644637	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.818000	0.62657	1.092000	0.41356	0.533000	0.62120	ACT		0.532	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		41	58	0	0	0	0	41	58				
SLC16A6	9120	broad.mit.edu	37	17	66267356	66267356	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:66267356G>A	ENST00000327268.4	-	6	1109	c.945C>T	c.(943-945)atC>atT	p.I315I	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.I315I	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	315					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CCAGAGGAATGATGTACAAGG	0.423																																						uc002jgz.1		NA																	0					0						c.(943-945)ATC>ATT		solute carrier family 16, member 6	Pyruvic acid(DB00119)						67.0	65.0	66.0					17																	66267356		2203	4300	6503	SO:0001819	synonymous_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267356G>A	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.945C>T	17.37:g.66267356G>A						ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Silent_p.I315I	p.I315I	NM_004694	NP_004685	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	1133	-	all_cancers(12;1.24e-09)		315			Helical; (Potential).		Q6P1X3	Silent	SNP	ENST00000327268.4	37	c.945C>T	CCDS11675.1																																																																																				0.423	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		12	24	0	0	0	0	12	24				
MC5R	4161	broad.mit.edu	37	18	13826439	13826439	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr18:13826439C>A	ENST00000324750.3	+	1	897	c.675C>A	c.(673-675)gcC>gcA	p.A225A	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	225				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). {ECO:0000305}.	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGCCCGGGGCCAGCTCTGCGC	0.622																																						uc010xaf.1		NA																	0				ovary(3)|lung(2)|breast(1)	6						c.(673-675)GCC>GCA		melanocortin 5 receptor							223.0	193.0	203.0					18																	13826439		2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826439C>A	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.675C>A	18.37:g.13826439C>A							p.A225A	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	675	+			225	ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).		Cytoplasmic (Potential).		B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.675C>A	CCDS11868.1																																																																																				0.622	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		87	179	1	0	3.56e-28	4.21e-28	87	179				
ZNF521	25925	broad.mit.edu	37	18	22807174	22807174	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr18:22807174C>T	ENST00000361524.3	-	4	856	c.708G>A	c.(706-708)agG>agA	p.R236R	ZNF521_ENST00000538137.2_Silent_p.R236R|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.R16R	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	236					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTCCTCCATCCTGGAACCGG	0.522			T	PAX5	ALL																																	uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(706-708)AGG>AGA		zinc finger protein 521							113.0	93.0	100.0					18																	22807174		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807174C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.708G>A	18.37:g.22807174C>T						ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.R236R|ZNF521_uc002kvl.2_Silent_p.R16R	p.R236R	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	955	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		236					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.708G>A	CCDS32806.1																																																																																				0.522	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		13	67	0	0	0	0	13	67				
NARS	4677	broad.mit.edu	37	18	55283091	55283091	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr18:55283091C>A	ENST00000256854.5	-	3	665	c.210G>T	c.(208-210)tgG>tgT	p.W70C	NARS_ENST00000423481.2_5'UTR	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	70					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	GTTCCCTATGCCACATCTTTT	0.388																																						uc002lgs.2		NA																	0					0						c.(208-210)TGG>TGT		asparaginyl-tRNA synthetase	L-Asparagine(DB00174)						202.0	193.0	196.0					18																	55283091		2203	4300	6503	SO:0001583	missense	4677				asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr18:55283091C>A	D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.210G>T	18.37:g.55283091C>A	ENSP00000256854:p.Trp70Cys					NARS_uc002lgt.2_Missense_Mutation_p.W69C|NARS_uc010xea.1_5'UTR|NARS_uc010xeb.1_RNA|NARS_uc010xec.1_Missense_Mutation_p.W70C|NARS_uc010xed.1_Missense_Mutation_p.W37C	p.W70C	NM_004539	NP_004530	O43776	SYNC_HUMAN			3	438	-		Colorectal(73;0.227)	70					B4DG16|Q53GU6	Missense_Mutation	SNP	ENST00000256854.5	37	c.210G>T	CCDS32837.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936782	0.34189	.	.	ENSG00000134440	ENST00000256854;ENST00000411676;ENST00000540592	T	0.78364	-1.17	5.49	4.61	0.57282	.	0.117766	0.64402	D	0.000011	D	0.84288	0.5439	L	0.56769	1.78	0.80722	D	1	D;D;D	0.71674	0.991;0.998;0.983	P;D;P	0.63703	0.827;0.917;0.765	D	0.84336	0.0524	10	0.44086	T	0.13	-12.9996	15.2558	0.73585	0.1416:0.8584:0.0:0.0	.	70;37;70	B4DGT6;F5H015;O43776	.;.;SYNC_HUMAN	C	70;37;70	ENSP00000256854:W70C	ENSP00000256854:W70C	W	-	3	0	NARS	53434089	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.175000	0.50855	1.302000	0.44855	0.643000	0.83706	TGG		0.388	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449872.2	NM_004539		22	55	1	0	1.87e-06	2.01e-06	22	55				
LRG1	116844	broad.mit.edu	37	19	4538051	4538051	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:4538051C>T	ENST00000306390.6	-	2	1405	c.945G>A	c.(943-945)caG>caA	p.Q315Q	PLIN5_ENST00000586133.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'Flank|PLIN5_ENST00000381848.3_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	315	LRRCT.				brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTTTGGGCCTGAAGCCAAC	0.592																																						uc002mau.2		NA																	0				ovary(1)	1						c.(943-945)CAG>CAA		leucine-rich alpha-2-glycoprotein 1 precursor							69.0	64.0	66.0					19																	4538051		2203	4300	6503	SO:0001819	synonymous_variant	116844					extracellular region|membrane		g.chr19:4538051C>T		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.945G>A	19.37:g.4538051C>T						PLIN5_uc002mas.2_5'Flank|PLIN5_uc002mat.1_Intron	p.Q315Q	NM_052972	NP_443204	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	956	-		Hepatocellular(1079;0.137)	315			LRRCT.		Q8N4F5|Q96QZ4	Silent	SNP	ENST00000306390.6	37	c.945G>A	CCDS12130.1																																																																																				0.592	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		40	35	0	0	0	0	40	35				
MUC16	94025	broad.mit.edu	37	19	9088493	9088493	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:9088493C>G	ENST00000397910.4	-	1	3525	c.3322G>C	c.(3322-3324)Gat>Cat	p.D1108H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1108	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGACATCATCAGAAAATGTG	0.443																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(3322-3324)GAT>CAT		mucin 16							98.0	94.0	95.0					19																	9088493		2021	4199	6220	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088493C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3322G>C	19.37:g.9088493C>G	ENSP00000381008:p.Asp1108His						p.D1108H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	3526	-			1108			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3322G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.973	-0.435990	0.04636	.	.	ENSG00000181143	ENST00000397910	T	0.03094	4.05	1.04	1.04	0.20106	.	.	.	.	.	T	0.04679	0.0127	N	0.08118	0	.	.	.	D	0.71674	0.998	P	0.62649	0.905	T	0.39663	-0.9603	8	0.87932	D	0	.	5.4149	0.16368	0.0:1.0:0.0:0.0	.	1108	B5ME49	.	H	1108	ENSP00000381008:D1108H	ENSP00000381008:D1108H	D	-	1	0	MUC16	8949493	0.006000	0.16342	0.017000	0.16124	0.051000	0.14879	0.015000	0.13355	0.870000	0.35726	0.305000	0.20034	GAT		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	36	0	0	0	0	18	36				
P2RY11	5032	broad.mit.edu	37	19	10225320	10225320	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:10225320C>G	ENST00000321826.4	+	2	1215	c.1031C>G	c.(1030-1032)cCa>cGa	p.P344R	PPAN_ENST00000556468.1_Missense_Mutation_p.P764R|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.P764R	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	344					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)			AGCTGGAACCCAGAGGACGCC	0.657																																						uc002mna.2		NA																	0				ovary(2)	2						c.(2290-2292)CCA>CGA		PPAN-P2RY11 protein							51.0	59.0	56.0					19																	10225320		2203	4300	6503	SO:0001583	missense	692312				RNA splicing	nucleolus	protein binding	g.chr19:10225320C>G	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	ENST00000321826.4:c.1031C>G	19.37:g.10225320C>G	ENSP00000323872:p.Pro344Arg					PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Missense_Mutation_p.P344R	p.P764R	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	2291	+			Error:Variant_position_missing_in_Q9NQ55_after_alignment					B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	c.2291C>G	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876761	0.33162	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	T;T;T	0.61274	0.13;0.13;0.12	2.96	-0.54	0.11861	.	3.044690	0.02289	U	0.070099	T	0.41143	0.1146	L	0.27053	0.805	0.09310	N	1	B	0.26002	0.139	B	0.27380	0.079	T	0.09465	-1.0673	10	0.20519	T	0.43	.	2.6471	0.04987	0.2261:0.5087:0.0:0.2652	.	344	Q96G91	P2Y11_HUMAN	R	764;764;344	ENSP00000377385:P764R;ENSP00000450710:P764R;ENSP00000323872:P344R	ENSP00000323872:P344R	P	+	2	0	PPAN;P2RY11;PPAN-P2RY11	10086320	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.182000	0.09726	-0.009000	0.14296	-0.314000	0.08810	CCA		0.657	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		14	50	0	0	0	0	14	50				
ZNF763	284390	broad.mit.edu	37	19	12088200	12088200	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:12088200G>T	ENST00000358987.3	+	3	272	c.145G>T	c.(145-147)Gac>Tac	p.D49Y	ZNF763_ENST00000538752.1_Missense_Mutation_p.D69Y|ZNF763_ENST00000343949.5_Missense_Mutation_p.D52Y|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000592625.1_Intron|ZNF763_ENST00000590798.1_Missense_Mutation_p.D69Y			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						AAAGTGGAAAGACCAGAACAT	0.333																																						uc002msw.2		NA																	0				central_nervous_system(1)	1						c.(145-147)GAC>TAC		zinc finger protein 763							91.0	94.0	93.0					19																	12088200		2202	4300	6502	SO:0001583	missense	284390				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12088200G>T	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.145G>T	19.37:g.12088200G>T	ENSP00000402017:p.Asp49Tyr					ZNF763_uc010xmf.1_Missense_Mutation_p.D69Y|ZNF763_uc002msv.2_Missense_Mutation_p.D52Y|ZNF763_uc010xmg.1_Intron	p.D49Y	NM_001012753	NP_001012771	Q0D2J5	ZN763_HUMAN			3	300	+			49			KRAB.		B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.145G>T		.	.	.	.	.	.	.	.	.	.	g	7.152	0.583996	0.13749	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000358987	T;T;T	0.00808	5.67;5.67;5.67	0.803	-1.61	0.08399	Krueppel-associated box (3);	.	.	.	.	T	0.03783	0.0107	M	0.84082	2.675	0.09310	N	1	D;D;D	0.76494	0.994;0.99;0.999	P;P;D	0.72982	0.878;0.797;0.979	T	0.26883	-1.0090	9	0.87932	D	0	.	2.9021	0.05709	0.2138:0.0:0.5288:0.2573	.	69;49;52	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	Y	69;52;49	ENSP00000438117:D69Y;ENSP00000369774:D52Y;ENSP00000402017:D49Y	ENSP00000369774:D52Y	D	+	1	0	ZNF763	11949200	0.010000	0.17322	0.000000	0.03702	0.060000	0.15804	0.057000	0.14279	-0.929000	0.03757	0.195000	0.17529	GAC		0.333	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		18	32	1	0	2.35e-11	2.63e-11	18	32				
SYDE1	85360	broad.mit.edu	37	19	15222125	15222125	+	Splice_Site	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:15222125T>C	ENST00000342784.2	+	5	1323	c.1292T>C	c.(1291-1293)gTa>gCa	p.V431A	SYDE1_ENST00000600252.1_Splice_Site_p.V88A|SYDE1_ENST00000600440.1_Splice_Site_p.V364A	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	431	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CACCCCCAGGTAGTGGGACTG	0.587																																						uc002nah.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1291-1293)GTA>GCA		synapse defective 1, Rho GTPase, homolog 1							113.0	93.0	100.0					19																	15222125		2203	4300	6503	SO:0001630	splice_region_variant	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15222125T>C	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1291-1T>C	19.37:g.15222125T>C						SYDE1_uc002nai.1_Missense_Mutation_p.V364A|SYDE1_uc002naj.1_Missense_Mutation_p.V88A	p.V431A	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN			5	1323	+			431			Rho-GAP.		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	37	c.1292T>C	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.483961	0.63962	.	.	ENSG00000105137	ENST00000342784	T	0.19669	2.13	5.3	5.3	0.74995	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000005	T	0.43322	0.1242	M	0.64170	1.965	0.58432	D	0.999997	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.997;0.996;0.997	T	0.35276	-0.9795	10	0.66056	D	0.02	.	13.1938	0.59726	0.0:0.0:0.0:1.0	.	364;364;431	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	A	431	ENSP00000341489:V431A	ENSP00000341489:V431A	V	+	2	0	SYDE1	15083125	1.000000	0.71417	0.965000	0.40720	0.214000	0.24535	7.558000	0.82253	2.013000	0.59113	0.459000	0.35465	GTA		0.587	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025	Missense_Mutation	33	22	0	0	0	0	33	22				
ATP13A1	57130	broad.mit.edu	37	19	19766741	19766741	+	Splice_Site	SNP	C	C	G	rs564865488		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:19766741C>G	ENST00000357324.6	-	9	1241	c.1215G>C	c.(1213-1215)ccG>ccC	p.P405P	ATP13A1_ENST00000291503.5_Splice_Site_p.P287P|ATP13A1_ENST00000496082.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	405						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.P405P(1)|p.?(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CGCTGTCAACCGCTGGGGAGA	0.652																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	uc002nnh.3		NA																	2	Deletion - Frameshift(1)|Substitution - coding silent(1)	p.?(1)	large_intestine(1)|central_nervous_system(1)	ovary(3)|large_intestine(2)|central_nervous_system(1)	6						c.(1213-1215)CCG>CCC		ATPase type 13A1							56.0	50.0	52.0					19																	19766741		2200	4293	6493	SO:0001630	splice_region_variant	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19766741C>G	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1214-1G>C	19.37:g.19766741C>G						ATP13A1_uc002nnf.3_5'Flank|ATP13A1_uc002nng.2_Silent_p.P287P	p.P405P	NM_020410	NP_065143	Q9HD20	AT131_HUMAN			9	1243	-			405			Extracellular (Potential).		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	ENST00000357324.6	37	c.1215G>C	CCDS32970.2																																																																																				0.652	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410	Silent	4	16	0	0	0	0	4	16				
APLP1	333	broad.mit.edu	37	19	36368688	36368688	+	Missense_Mutation	SNP	G	G	A	rs142258705		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:36368688G>A	ENST00000221891.4	+	12	1705	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	APLP1_ENST00000537454.2_Missense_Mutation_p.E466K|APLP1_ENST00000586861.1_Missense_Mutation_p.E499K|APLP1_ENST00000589298.2_3'UTR	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	505					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGCAGCAGCGAGGACAAGGG	0.582																																						uc002oce.2		NA																	0				ovary(2)	2						c.(1513-1515)GAG>AAG		amyloid precursor-like protein 1 isoform 2		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	58.0	57.0	58.0		1513,1513	4.4	1.0	19	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	APLP1	NM_001024807.1,NM_005166.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	505/652,505/651	36368688	1,13005	2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36368688G>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1513G>A	19.37:g.36368688G>A	ENSP00000221891:p.Glu505Lys					APLP1_uc010xsz.1_Missense_Mutation_p.E466K|APLP1_uc002ocf.2_Missense_Mutation_p.E505K|APLP1_uc002ocg.2_Missense_Mutation_p.E408K|APLP1_uc010xta.1_Missense_Mutation_p.E499K	p.E505K	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		12	1651	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		505			Extracellular (Potential).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.1513G>A	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854070	0.71719	0.0	1.16E-4	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94184	-3.29;-3.37	5.47	4.43	0.53597	.	0.765644	0.11195	N	0.589499	D	0.88614	0.6484	N	0.19112	0.55	0.42229	D	0.991884	P;P;D;D	0.60160	0.892;0.838;0.983;0.987	B;B;P;B	0.45639	0.104;0.424;0.488;0.388	T	0.83174	-0.0092	10	0.25751	T	0.34	-10.309	11.5818	0.50896	0.0:0.0:0.8216:0.1784	.	499;466;505;505	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	K	466;505	ENSP00000441501:E466K;ENSP00000221891:E505K	ENSP00000221891:E505K	E	+	1	0	APLP1	41060528	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	4.358000	0.59442	1.304000	0.44892	0.655000	0.94253	GAG		0.582	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		17	44	0	0	0	0	17	44				
ZNF571	51276	broad.mit.edu	37	19	38057174	38057174	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:38057174C>T	ENST00000328550.2	-	4	255	c.156G>A	c.(154-156)gtG>gtA	p.V52V	ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000358744.3_Silent_p.V52V|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000451802.2_Silent_p.V52V|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Silent_p.V52V|ZNF571-AS1_ENST00000589802.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTTTTTGGTCACACAACTGG	0.338																																						uc002ogt.2		NA																	0					0						c.(154-156)GTG>GTA		zinc finger protein 571							56.0	60.0	58.0					19																	38057174		2198	4294	6492	SO:0001819	synonymous_variant	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38057174C>T	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.156G>A	19.37:g.38057174C>T						uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Silent_p.V52V	p.V52V	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	257	-			52			KRAB.		Q2HIY0|Q3ZCU3|Q9NZX7	Silent	SNP	ENST00000328550.2	37	c.156G>A	CCDS12505.1																																																																																				0.338	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		16	51	0	0	0	0	16	51				
PSG11	5680	broad.mit.edu	37	19	43529018	43529018	+	Silent	SNP	G	G	A	rs138426313		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:43529018G>A	ENST00000401740.1	-	2	358	c.255C>T	c.(253-255)gaC>gaT	p.D85D	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Silent_p.D85D|PSG11_ENST00000306322.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	85	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTATTTGACCGTCTACTACAT	0.443																																						uc002ovh.1		NA																	0				ovary(1)|skin(1)	2						c.(271-273)GAC>GAT		SubName: Full=Putative uncharacterized protein PSG6;		G	,,	1,4397	2.1+/-5.4	0,1,2198	174.0	168.0	170.0		,255,	-0.5	0.0	19	dbSNP_134	170	0,8592		0,0,4296	no	intron,coding-synonymous,intron	PSG11	NM_001113410.1,NM_002785.2,NM_203287.1	,,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,,	,85/336,	43529018	1,12989	2199	4296	6495	SO:0001819	synonymous_variant	5675				female pregnancy	extracellular region		g.chr19:43529018G>A	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.255C>T	19.37:g.43529018G>A						PSG11_uc002ouw.2_Silent_p.D91D|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Silent_p.D91D|PSG11_uc002ovm.1_Silent_p.D85D|PSG11_uc002ovn.1_Silent_p.D91D|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron	p.D91D			Q00889	PSG6_HUMAN			2	362	-		Prostate(69;0.00899)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000401740.1	37	c.273C>T	CCDS12614.2																																																																																				0.443	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		56	179	0	0	0	0	56	179				
TEX101	83639	broad.mit.edu	37	19	43920656	43920656	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:43920656T>C	ENST00000598265.1	+	4	506	c.340T>C	c.(340-342)Tgt>Cgt	p.C114R	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000602198.1_Missense_Mutation_p.C132R|TEX101_ENST00000253435.7_Missense_Mutation_p.C132R	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	114						acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GGATTCCTTCTGTAATGACAA	0.507																																						uc010xwo.1		NA																	0				ovary(1)	1						c.(340-342)TGT>CGT		testis expressed 101 isoform 2							215.0	201.0	205.0					19																	43920656		2203	4300	6503	SO:0001583	missense	83639					anchored to membrane|plasma membrane		g.chr19:43920656T>C	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.340T>C	19.37:g.43920656T>C	ENSP00000472769:p.Cys114Arg					TEX101_uc002owk.2_Missense_Mutation_p.C132R	p.C114R	NM_001130011	NP_001123483	Q9BY14	TX101_HUMAN			4	535	+		Prostate(69;0.0199)	114					Q7L5R2|Q9BPY7	Missense_Mutation	SNP	ENST00000598265.1	37	c.340T>C	CCDS59393.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.988942	0.53934	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	D	0.99591	-6.24	4.26	4.26	0.50523	.	0.092351	0.48286	D	0.000194	D	0.99507	0.9824	M	0.83384	2.64	0.42033	D	0.991034	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.98413	1.0573	10	0.87932	D	0	-7.6484	10.0562	0.42246	0.0:0.0:0.0:1.0	.	114;132	Q9BY14;Q9BY14-2	TX101_HUMAN;.	R	132;127	ENSP00000253435:C132R	ENSP00000253435:C132R	C	+	1	0	TEX101	48612496	0.961000	0.32948	0.612000	0.29024	0.012000	0.07955	2.524000	0.45589	2.151000	0.67156	0.459000	0.35465	TGT		0.507	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451		98	142	0	0	0	0	98	142				
FOSB	2354	broad.mit.edu	37	19	45971882	45971882	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:45971882C>T	ENST00000353609.3	+	1	630	c.38C>T	c.(37-39)tCc>tTc	p.S13F	FOSB_ENST00000585836.1_Missense_Mutation_p.S13F|FOSB_ENST00000590335.1_Missense_Mutation_p.S13F|FOSB_ENST00000417353.2_Missense_Mutation_p.S13F|FOSB_ENST00000591858.1_Missense_Mutation_p.S13F|FOSB_ENST00000592811.1_5'Flank|FOSB_ENST00000443841.2_Missense_Mutation_p.S13F|FOSB_ENST00000586615.1_5'Flank|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592436.1_Missense_Mutation_p.S13F	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	13					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		GACTCCGGCTCCCGGTGCAGC	0.632																																						uc002pbx.3		NA																	0				ovary(2)|lung(1)	3						c.(37-39)TCC>TTC		FBJ murine osteosarcoma viral oncogene homolog B							52.0	59.0	57.0					19																	45971882		2203	4300	6503	SO:0001583	missense	2354				behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:45971882C>T		CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"""basic leucine zipper proteins"""	3797	protein-coding gene	gene with protein product	"""oncogene FOS-B"", ""activator protein 1"""	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.38C>T	19.37:g.45971882C>T	ENSP00000245919:p.Ser13Phe					ERCC1_uc002pbu.1_Intron|FOSB_uc002pbw.2_Missense_Mutation_p.S13F|FOSB_uc010eke.2_Missense_Mutation_p.S13F|FOSB_uc002pby.3_Missense_Mutation_p.S13F|FOSB_uc010eka.1_Missense_Mutation_p.S13F|FOSB_uc010ekb.1_Missense_Mutation_p.S13F|FOSB_uc010ekc.1_Missense_Mutation_p.S13F|FOSB_uc010ekf.2_Missense_Mutation_p.S13F|FOSB_uc010ekd.1_Missense_Mutation_p.S13F|FOSB_uc010ekg.2_Missense_Mutation_p.S13F|FOSB_uc002pca.3_5'Flank	p.S13F	NM_006732	NP_006723	P53539	FOSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)	1	630	+		Ovarian(192;0.051)|all_neural(266;0.112)	13					A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	ENST00000353609.3	37	c.38C>T	CCDS12664.1	.	.	.	.	.	.	.	.	.	.	C	36	5.606787	0.96626	.	.	ENSG00000125740	ENST00000353609;ENST00000417353;ENST00000455928;ENST00000443841	T;T;T	0.66280	-0.2;-0.2;-0.2	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.77287	0.4108	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.998;0.999;0.991;0.999;0.995;1.0	D;D;D;D;D;D;D	0.87578	0.996;0.99;0.996;0.991;0.996;0.979;0.998	T	0.78573	-0.2152	10	0.87932	D	0	-11.3555	16.696	0.85336	0.0:1.0:0.0:0.0	.	13;13;13;13;13;13;13	E7EPR6;A8VJF0;A8VJF3;A8VJG5;E9PHJ3;P53539;A8VJE1	.;.;.;.;.;FOSB_HUMAN;.	F	13	ENSP00000245919:S13F;ENSP00000407207:S13F;ENSP00000414177:S13F	ENSP00000245919:S13F	S	+	2	0	FOSB	50663722	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.007000	0.63984	2.808000	0.96608	0.561000	0.74099	TCC		0.632	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1	NM_006732		56	66	0	0	0	0	56	66				
ZNF347	84671	broad.mit.edu	37	19	53644866	53644866	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:53644866T>A	ENST00000334197.7	-	5	1283	c.1215A>T	c.(1213-1215)gaA>gaT	p.E405D	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.E406D|ZNF347_ENST00000452676.2_Missense_Mutation_p.E406D	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCTTGCCACATTCATTACATT	0.423																																					Melanoma(64;205 1597 17324 45721)	uc002qbb.1		NA																	0					0						c.(1213-1215)GAA>GAT		zinc finger protein 347							106.0	108.0	107.0					19																	53644866		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644866T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1215A>T	19.37:g.53644866T>A	ENSP00000334146:p.Glu405Asp					ZNF347_uc010eql.1_Missense_Mutation_p.E406D|ZNF347_uc002qbc.1_Missense_Mutation_p.E406D	p.E405D	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1284	-			405			C2H2-type 6.		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.1215A>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	T	8.910	0.958564	0.18507	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07567	3.18;3.18	2.85	-3.8	0.04307	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06917	0.0176	L	0.35288	1.05	0.09310	N	0.999997	B;B	0.22003	0.063;0.001	B;B	0.28849	0.095;0.011	T	0.41106	-0.9527	9	0.40728	T	0.16	.	8.7737	0.34749	0.0:0.3554:0.0:0.6446	.	406;405	G5E9N4;Q96SE7	.;ZN347_HUMAN	D	405;406	ENSP00000334146:E405D;ENSP00000405218:E406D	ENSP00000334146:E405D	E	-	3	2	ZNF347	58336678	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-9.645000	0.00010	-0.844000	0.04184	-0.408000	0.06270	GAA		0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		42	60	0	0	0	0	42	60				
NLRP11	204801	broad.mit.edu	37	19	56303779	56303779	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:56303779A>G	ENST00000589093.1	-	7	2494	c.2401T>C	c.(2401-2403)Ttc>Ctc	p.F801L	NLRP11_ENST00000443188.1_Missense_Mutation_p.F801L|NLRP11_ENST00000592953.1_Missense_Mutation_p.F702L|NLRP11_ENST00000589824.2_Missense_Mutation_p.F747L|NLRP11_ENST00000360133.3_Missense_Mutation_p.F747L			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	801							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GTTGGGCTGAACAGAAGCACT	0.473																																						uc010ygf.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2401-2403)TTC>CTC		NLR family, pyrin domain containing 11							148.0	134.0	138.0					19																	56303779		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56303779A>G	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2401T>C	19.37:g.56303779A>G	ENSP00000466285:p.Phe801Leu					NLRP11_uc002qlz.2_Missense_Mutation_p.F648L|NLRP11_uc002qmb.2_Missense_Mutation_p.F702L|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.F801L	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	9	3112	-		Colorectal(82;0.0002)	801					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2401T>C	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	A	0.021	-1.426560	0.01117	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.36520	1.25;1.25	2.18	-4.36	0.03645	.	.	.	.	.	T	0.07818	0.0196	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27571	-1.0070	9	0.10377	T	0.69	.	3.7664	0.08624	0.5506:0.0:0.2618:0.1876	.	801;747	P59045;P59045-2	NAL11_HUMAN;.	L	801;747	ENSP00000409898:F801L;ENSP00000353251:F747L	ENSP00000353251:F747L	F	-	1	0	NLRP11	60995591	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.550000	0.06034	-1.214000	0.02614	-1.621000	0.00791	TTC		0.473	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		9	78	0	0	0	0	9	78				
ZNF71	58491	broad.mit.edu	37	19	57133864	57133864	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:57133864G>T	ENST00000328070.6	+	3	1443	c.1209G>T	c.(1207-1209)gtG>gtT	p.V403V		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACCAGATCGTGCACACCGGGG	0.647																																						uc002qnm.3		NA																	0				skin(1)	1						c.(1207-1209)GTG>GTT		zinc finger protein 71							86.0	71.0	76.0					19																	57133864		2203	4300	6503	SO:0001819	synonymous_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133864G>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1209G>T	19.37:g.57133864G>T							p.V403V	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1447	+			403			C2H2-type 10.		Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	c.1209G>T	CCDS12947.1																																																																																				0.647	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		15	47	1	0	8.6e-14	9.8e-14	15	47				
OTOF	9381	broad.mit.edu	37	2	26702480	26702480	+	Silent	SNP	G	G	T	rs373864355		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:26702480G>T	ENST00000272371.2	-	17	2080	c.1954C>A	c.(1954-1956)Cgg>Agg	p.R652R	OTOF_ENST00000338581.6_5'Flank|OTOF_ENST00000403946.3_Silent_p.R652R|OTOF_ENST00000402415.3_5'Flank|OTOF_ENST00000339598.3_5'Flank	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	652					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCGAGGCCGCTGGGGCCGG	0.642																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(1954-1956)CGG>AGG		otoferlin isoform a							30.0	35.0	33.0					2																	26702480		2200	4299	6499	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26702480G>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1954C>A	2.37:g.26702480G>T						OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank	p.R652R	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			17	2081	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		652			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.1954C>A	CCDS1725.1																																																																																				0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			22	38	1	0	2.45e-14	2.8e-14	22	38				
GPR75	10936	broad.mit.edu	37	2	54080317	54080317	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:54080317T>C	ENST00000394705.2	-	2	1847	c.1577A>G	c.(1576-1578)gAa>gGa	p.E526G	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	526					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTGTCATATTCCTGCACTAA	0.408																																						uc002rxo.3		NA																	0				ovary(1)|skin(1)	2						c.(1576-1578)GAA>GGA		G protein-coupled receptor 75							147.0	143.0	145.0					2																	54080317		2203	4300	6503	SO:0001583	missense	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54080317T>C	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.1577A>G	2.37:g.54080317T>C	ENSP00000378195:p.Glu526Gly					ASB3_uc002rxi.3_Intron	p.E526G	NM_006794	NP_006785	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1848	-			526			Cytoplasmic (Potential).		B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	c.1577A>G	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986957	0.35036	.	.	ENSG00000119737	ENST00000394705	T	0.25579	1.79	4.84	3.68	0.42216	.	0.107337	0.64402	D	0.000009	T	0.22205	0.0535	.	.	.	0.42308	D	0.992208	B	0.02656	0.0	B	0.04013	0.001	T	0.05321	-1.0892	9	0.72032	D	0.01	-3.3227	10.5101	0.44857	0.0:0.0778:0.0:0.9222	.	526	O95800	GPR75_HUMAN	G	526	ENSP00000378195:E526G	ENSP00000378195:E526G	E	-	2	0	GPR75	53933821	0.999000	0.42202	0.290000	0.24890	0.917000	0.54804	3.620000	0.54203	0.974000	0.38366	0.459000	0.35465	GAA		0.408	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			29	70	0	0	0	0	29	70				
AFTPH	54812	broad.mit.edu	37	2	64780007	64780007	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:64780007C>T	ENST00000422803.1	+	2	1713	c.1399C>T	c.(1399-1401)Cac>Tac	p.H467Y	AFTPH_ENST00000238855.7_Missense_Mutation_p.H467Y|AFTPH_ENST00000238856.4_Missense_Mutation_p.H467Y|AFTPH_ENST00000409183.1_Missense_Mutation_p.H98Y|AFTPH_ENST00000409933.1_Missense_Mutation_p.H467Y			Q6ULP2	AFTIN_HUMAN	aftiphilin	467					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GTCTTCAGAGCACTTTCCACA	0.413																																						uc002sdc.2		NA																	0				ovary(2)	2						c.(1399-1401)CAC>TAC		aftiphilin protein isoform a							145.0	142.0	143.0					2																	64780007		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64780007C>T	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1399C>T	2.37:g.64780007C>T	ENSP00000397726:p.His467Tyr					AFTPH_uc002scz.2_Missense_Mutation_p.H467Y|AFTPH_uc002sda.2_Missense_Mutation_p.H467Y|AFTPH_uc002sdb.2_Missense_Mutation_p.H467Y	p.H467Y	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN			1	1431	+			467					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.1399C>T		.	.	.	.	.	.	.	.	.	.	C	13.28	2.189313	0.38707	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.44881	1.9;1.9;1.9;1.9;0.91	6.06	5.19	0.71726	.	0.352984	0.31335	N	0.007840	T	0.40347	0.1113	L	0.57536	1.79	0.26719	N	0.970828	P;B;P;P	0.52316	0.898;0.435;0.952;0.952	P;B;P;P	0.44561	0.453;0.264;0.453;0.453	T	0.49031	-0.8981	10	0.72032	D	0.01	-0.7298	7.1415	0.25558	0.1444:0.7192:0.0:0.1364	.	467;467;467;467	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	Y	467;467;467;467;98	ENSP00000238856:H467Y;ENSP00000397726:H467Y;ENSP00000238855:H467Y;ENSP00000387071:H467Y;ENSP00000386913:H98Y	ENSP00000238855:H467Y	H	+	1	0	AFTPH	64633511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.477000	0.35431	1.562000	0.49601	0.650000	0.86243	CAC		0.413	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		33	58	0	0	0	0	33	58				
WDR54	84058	broad.mit.edu	37	2	74652827	74652827	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:74652827G>C	ENST00000348227.4	+	10	1092	c.1004G>C	c.(1003-1005)tGa>tCa	p.*335S	WDR54_ENST00000409791.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	0										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						AGCAGTGTGTGAGAAGAGCAG	0.507																																						uc002slb.2		NA																	0					0						c.(1003-1005)TGA>TCA		WD repeat domain 54							135.0	126.0	129.0					2																	74652827		2203	4300	6503	SO:0001578	stop_lost	84058							g.chr2:74652827G>C	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.1004G>C	2.37:g.74652827G>C	ENSP00000006526:p.*335Serext*?						p.*335S	NM_032118	NP_115494	Q9H977	WDR54_HUMAN			10	1064	+			335					D6W5I3|Q53H85|Q86V45	Nonstop_Mutation	SNP	ENST00000348227.4	37	c.1004G>C	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	G	6.485	0.457626	0.12342	.	.	ENSG00000005448	ENST00000348227	.	.	.	4.64	2.79	0.32731	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2898	0.26360	0.2071:0.0:0.7929:0.0	.	.	.	.	S	335	.	.	X	+	2	2	WDR54	74506335	0.999000	0.42202	0.264000	0.24511	0.256000	0.26092	1.750000	0.38329	1.190000	0.43042	-0.140000	0.14226	TGA		0.507	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		71	98	0	0	0	0	71	98				
MYO7B	4648	broad.mit.edu	37	2	128384629	128384629	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:128384629T>A	ENST00000409816.2	+	30	4249	c.4217T>A	c.(4216-4218)cTg>cAg	p.L1406Q	RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000409090.1_Missense_Mutation_p.L259Q|MYO7B_ENST00000389524.4_Missense_Mutation_p.L1406Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.L1406Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1406	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAGTGGCCGCTGCTCTTCTCC	0.637																																						uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(4216-4218)CTG>CAG		myosin VIIB							18.0	21.0	20.0					2																	128384629		2029	4183	6212	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128384629T>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4217T>A	2.37:g.128384629T>A	ENSP00000386461:p.Leu1406Gln					MYO7B_uc002toq.1_Missense_Mutation_p.L259Q|MYO7B_uc002tor.1_Missense_Mutation_p.L259Q	p.L1406Q	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	31	4270	+	Colorectal(110;0.1)		1406			FERM 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.4217T>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	t	27.1	4.799088	0.90538	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05	4.88	4.88	0.63580	Band 4.1 domain (1);FERM domain (1);	0.194817	0.44097	D	0.000499	D	0.97701	0.9246	M	0.75264	2.295	0.52099	D	0.99994	D	0.89917	1.0	D	0.73708	0.981	D	0.98516	1.0621	10	0.87932	D	0	.	14.6976	0.69134	0.0:0.0:0.0:1.0	.	1406	Q6PIF6	MYO7B_HUMAN	Q	1406;1406;259;1406;259	ENSP00000374175:L1406Q;ENSP00000415090:L1406Q;ENSP00000386461:L1406Q;ENSP00000386850:L259Q	ENSP00000272666:L259Q	L	+	2	0	MYO7B	128101099	1.000000	0.71417	0.971000	0.41717	0.898000	0.52572	7.495000	0.81514	2.079000	0.62486	0.454000	0.30748	CTG		0.637	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		7	12	0	0	0	0	7	12				
RAB3GAP1	22930	broad.mit.edu	37	2	135851202	135851202	+	Missense_Mutation	SNP	A	A	T	rs369370987		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:135851202A>T	ENST00000264158.8	+	5	344	c.301A>T	c.(301-303)Atg>Ttg	p.M101L	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.M101L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.M57L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	101					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TCCACAATCTATGCAAGATTT	0.348																																						uc002tuj.2		NA																	0				ovary(1)|skin(1)	2						c.(301-303)ATG>TTG		RAB3 GTPase-activating protein							191.0	177.0	182.0					2																	135851202		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135851202A>T	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.301A>T	2.37:g.135851202A>T	ENSP00000264158:p.Met101Leu					RAB3GAP1_uc010fnf.2_Missense_Mutation_p.M101L|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA	p.M101L	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	5	326	+			101					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.301A>T	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.661300	0.29515	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.42513	0.97;0.97;0.97	5.63	4.41	0.53225	.	0.071996	0.85682	D	0.000000	T	0.31071	0.0785	L	0.40543	1.245	0.35752	D	0.819511	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.26052	-1.0114	10	0.11182	T	0.66	-21.1602	12.3921	0.55364	0.8597:0.1403:0.0:0.0	.	101;101	C9J837;Q15042	.;RB3GP_HUMAN	L	101;57;101	ENSP00000264158:M101L;ENSP00000444306:M57L;ENSP00000411418:M101L	ENSP00000264158:M101L	M	+	1	0	RAB3GAP1	135567672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.547000	0.60712	2.267000	0.75376	0.533000	0.62120	ATG		0.348	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		21	39	0	0	0	0	21	39				
NEB	4703	broad.mit.edu	37	2	152397296	152397296	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:152397296G>T	ENST00000172853.10	-	109	15746	c.15599C>A	c.(15598-15600)gCc>gAc	p.A5200D	NEB_ENST00000427231.2_Missense_Mutation_p.A6901D|NEB_ENST00000397345.3_Missense_Mutation_p.A6901D|NEB_ENST00000603639.1_Missense_Mutation_p.A6901D|NEB_ENST00000409198.1_Missense_Mutation_p.A5200D|NEB_ENST00000604864.1_Missense_Mutation_p.A6901D			P20929	NEBU_HUMAN	nebulin	5200					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTTTGGTGGCAAGTTCAAC	0.413																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(15598-15600)GCC>GAC		nebulin isoform 3							146.0	141.0	143.0					2																	152397296		2044	4191	6235	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152397296G>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15599C>A	2.37:g.152397296G>T	ENSP00000172853:p.Ala5200Asp					NEB_uc002txr.2_Missense_Mutation_p.A1623D	p.A5200D	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	109	15790	-			5200			Nebulin 141.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.15599C>A		.	.	.	.	.	.	.	.	.	.	G	23.4	4.406665	0.83230	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.12984	3.01;2.63;2.93;3.09;3.01	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.98	T	0.00317	-1.1822	10	0.36615	T	0.2	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	5200;1631	P20929;Q14215	NEBU_HUMAN;.	D	5200;6901;6901;1249;1631;5200	ENSP00000386259:A5200D;ENSP00000380505:A6901D;ENSP00000416578:A6901D;ENSP00000410961:A1631D;ENSP00000172853:A5200D	ENSP00000172853:A5200D	A	-	2	0	NEB	152105542	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.938000	0.92943	2.890000	0.99128	0.650000	0.86243	GCC		0.413	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		26	45	1	0	2.8e-10	3.11e-10	26	45				
SCN3A	6328	broad.mit.edu	37	2	166003416	166003416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:166003416G>A	ENST00000360093.3	-	12	1995	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	SCN3A_ENST00000409101.3_Nonsense_Mutation_p.R502*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.R502*|RN7SL455P_ENST00000580629.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	502					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCTTCCTTCGGTTCCTCCAT	0.428																																						uc002ucx.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(1504-1506)CGA>TGA		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						200.0	197.0	198.0					2																	166003416		2203	4300	6503	SO:0001587	stop_gained	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166003416G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1504C>T	2.37:g.166003416G>A	ENSP00000353206:p.Arg502*					SCN3A_uc002ucy.2_Nonsense_Mutation_p.R502*|SCN3A_uc002ucz.2_Nonsense_Mutation_p.R502*|SCN3A_uc002uda.1_Nonsense_Mutation_p.R371*|SCN3A_uc002udb.1_Nonsense_Mutation_p.R371*	p.R502*	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			12	1996	-			502					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Nonsense_Mutation	SNP	ENST00000360093.3	37	c.1504C>T		.	.	.	.	.	.	.	.	.	.	G	43	9.880830	0.99286	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	.	.	.	5.58	0.932	0.19466	.	0.000000	0.49916	D	0.000125	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0582	0.71930	0.0:0.0:0.2691:0.7309	.	.	.	.	X	502	.	ENSP00000283254:R502X	R	-	1	2	SCN3A	165711662	1.000000	0.71417	0.987000	0.45799	0.984000	0.73092	1.925000	0.40074	0.354000	0.24105	0.655000	0.94253	CGA		0.428	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		51	96	0	0	0	0	51	96				
TTN	7273	broad.mit.edu	37	2	179457367	179457367	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:179457367C>A	ENST00000591111.1	-	251	54666	c.54442G>T	c.(54442-54444)Gat>Tat	p.D18148Y	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10916Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17221Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D19789Y|TTN_ENST00000359218.5_Missense_Mutation_p.D10849Y|TTN_ENST00000460472.2_Missense_Mutation_p.D10724Y			Q8WZ42	TITIN_HUMAN	titin	18148	Ig-like 105.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTTGGCATCAAGAATCAAC	0.363																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(51661-51663)GAT>TAT		titin isoform N2-A							109.0	94.0	99.0					2																	179457367		1840	4098	5938	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457367C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54442G>T	2.37:g.179457367C>A	ENSP00000465570:p.Asp18148Tyr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D10916Y|TTN_uc010zfi.1_Missense_Mutation_p.D10849Y|TTN_uc010zfj.1_Missense_Mutation_p.D10724Y	p.D17221Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		250	51885	-			18148					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.51661G>T		.	.	.	.	.	.	.	.	.	.	C	13.14	2.147535	0.37923	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64803	-0.12;0.11;0.09;0.08	6.16	6.16	0.99307	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83519	0.5272	M	0.86864	2.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;0.998	D	0.84506	0.0619	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	10724;10849;10916;18148	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	17221;10724;10916;10849;10722	ENSP00000343764:D17221Y;ENSP00000434586:D10724Y;ENSP00000340554:D10916Y;ENSP00000352154:D10849Y	ENSP00000340554:D10916Y	D	-	1	0	TTN	179165613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	GAT		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	51	1	0	7.65e-07	8.31e-07	35	51				
GULP1	51454	broad.mit.edu	37	2	189458684	189458684	+	Silent	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:189458684A>T	ENST00000409580.1	+	13	1575	c.861A>T	c.(859-861)ggA>ggT	p.G287G	GULP1_ENST00000409609.1_Silent_p.G287G|GULP1_ENST00000409830.1_Silent_p.G287G|GULP1_ENST00000409805.1_Silent_p.G184G|GULP1_ENST00000409843.1_Missense_Mutation_p.D291V|GULP1_ENST00000359135.3_Silent_p.G287G			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	287					apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TCAAAATGGGACTAACTCTTG	0.338																																					Pancreas(178;563 2065 20199 42378 52815)	uc010fru.2		NA																	0				ovary(1)	1						c.(859-861)GGA>GGT		GULP, engulfment adaptor PTB domain containing							107.0	109.0	108.0					2																	189458684		2203	4300	6503	SO:0001819	synonymous_variant	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189458684A>T	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.861A>T	2.37:g.189458684A>T						GULP1_uc002uqd.2_Missense_Mutation_p.D291V|GULP1_uc010zfw.1_Silent_p.G184G|GULP1_uc002uqf.2_Silent_p.G287G|GULP1_uc002uqg.2_Silent_p.G287G|GULP1_uc002uqh.1_3'UTR	p.G287G	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		12	1322	+			287					B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Silent	SNP	ENST00000409580.1	37	c.861A>T	CCDS2295.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.765360	0.90020	.	.	ENSG00000144366	ENST00000409843;ENST00000433052	T	0.48522	0.81	5.68	5.68	0.88126	.	.	.	.	.	T	0.69513	0.3119	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.73956	-0.3819	8	0.87932	D	0	-2.5385	15.1011	0.72276	1.0:0.0:0.0:0.0	.	291	B8ZZ72	.	V	291;172	ENSP00000387144:D291V	ENSP00000387144:D291V	D	+	2	0	GULP1	189166929	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.161000	0.67846	0.533000	0.62120	GAC		0.338	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315		9	26	0	0	0	0	9	26				
CPS1	1373	broad.mit.edu	37	2	211473156	211473156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:211473156C>T	ENST00000233072.5	+	19	2460	c.2264C>T	c.(2263-2265)tCc>tTc	p.S755F	CPS1_ENST00000430249.2_Missense_Mutation_p.S761F|CPS1_ENST00000451903.2_Missense_Mutation_p.S304F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	755					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AACGTCGTATCCGGGAAGACA	0.423																																						uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2263-2265)TCC>TTC		carbamoyl-phosphate synthetase 1 isoform b							128.0	123.0	125.0					2																	211473156		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211473156C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2264C>T	2.37:g.211473156C>T	ENSP00000233072:p.Ser755Phe					CPS1_uc010fur.2_Missense_Mutation_p.S761F|CPS1_uc010fus.2_Missense_Mutation_p.S304F	p.S755F	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	19	2396	+			755					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2264C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781492	0.70222	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97209	-4.29;-4.29;-4.29	6.16	6.16	0.99307	ATP-grasp fold, subdomain 2 (1);	0.060500	0.64402	D	0.000001	D	0.96914	0.8992	M	0.68952	2.095	0.58432	D	0.999998	P;P	0.43662	0.814;0.814	B;B	0.43728	0.429;0.429	D	0.96891	0.9653	10	0.87932	D	0	-3.1661	20.8598	0.99761	0.0:1.0:0.0:0.0	.	765;755	Q59HF8;P31327	.;CPSM_HUMAN	F	761;763;755;304	ENSP00000402608:S761F;ENSP00000233072:S755F;ENSP00000406136:S304F	ENSP00000233072:S755F	S	+	2	0	CPS1	211181401	1.000000	0.71417	0.893000	0.35052	0.089000	0.18198	7.298000	0.78815	2.937000	0.99478	0.650000	0.86243	TCC		0.423	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			27	47	0	0	0	0	27	47				
MARCH4	57574	broad.mit.edu	37	2	217124378	217124378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:217124378G>A	ENST00000273067.4	-	4	2656	c.890C>T	c.(889-891)tCg>tTg	p.S297L	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	297						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GCGGTACACCGAGGGTCCTTC	0.537																																						uc002vgb.2		NA																	0				ovary(1)	1						c.(889-891)TCG>TTG		membrane-associated ring finger (C3HC4) 4							60.0	52.0	55.0					2																	217124378		2203	4300	6503	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217124378G>A	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.890C>T	2.37:g.217124378G>A	ENSP00000273067:p.Ser297Leu						p.S297L	NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	4	2657	-		Renal(323;0.0854)	297					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.890C>T	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	G	34	5.326586	0.95708	.	.	ENSG00000144583	ENST00000273067	T	0.60040	0.22	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.74099	0.3672	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73506	-0.3961	10	0.45353	T	0.12	-3.9812	18.1153	0.89552	0.0:0.0:1.0:0.0	.	297	Q9P2E8	MARH4_HUMAN	L	297	ENSP00000273067:S297L	ENSP00000273067:S297L	S	-	2	0	MARCH4	216832623	1.000000	0.71417	0.966000	0.40874	0.986000	0.74619	9.813000	0.99286	2.590000	0.87494	0.561000	0.74099	TCG		0.537	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		23	25	0	0	0	0	23	25				
COL6A3	1293	broad.mit.edu	37	2	238287849	238287849	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:238287849G>C	ENST00000295550.4	-	6	2379	c.1927C>G	c.(1927-1929)Ctt>Gtt	p.L643V	COL6A3_ENST00000392003.2_Missense_Mutation_p.L236V|COL6A3_ENST00000409809.1_Missense_Mutation_p.L437V|COL6A3_ENST00000353578.4_Missense_Mutation_p.L437V|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.L442V|COL6A3_ENST00000392004.3_Missense_Mutation_p.L437V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	643	Nonhelical region.|VWFA 4. {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)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCATCCAAAAGAAAGATGATA	0.388																																						uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(1927-1929)CTT>GTT		alpha 3 type VI collagen isoform 1 precursor							60.0	60.0	60.0					2																	238287849		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238287849G>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1927C>G	2.37:g.238287849G>C	ENSP00000295550:p.Leu643Val					COL6A3_uc002vwo.2_Missense_Mutation_p.L437V|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.L437V|COL6A3_uc002vwr.2_Missense_Mutation_p.L236V|COL6A3_uc010znk.1_Intron	p.L643V	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	6	2212	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	643			VWFA 4.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.1927C>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148207	0.78001	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000409809;ENST00000392004;ENST00000392003	D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.52	5.52	0.82312	von Willebrand factor, type A (3);	0.000000	0.43416	U	0.000568	D	0.89121	0.6625	L	0.49699	1.58	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;0.998	D	0.87440	0.2394	10	0.37606	T	0.19	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	236;437;437;643	A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	V	643;442;437;437;437;236	ENSP00000295550:L643V;ENSP00000315609:L442V;ENSP00000315873:L437V;ENSP00000386844:L437V;ENSP00000375861:L437V;ENSP00000375860:L236V	ENSP00000295550:L643V	L	-	1	0	COL6A3	237952588	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	6.676000	0.74498	2.595000	0.87683	0.655000	0.94253	CTT		0.388	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		11	24	0	0	0	0	11	24				
MYEOV2	150678	broad.mit.edu	37	2	241069334	241069334	+	IGR	SNP	C	C	T	rs551865042		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:241069334C>T	ENST00000607357.1	-	0	418				MYEOV2_ENST00000307266.3_Silent_p.S125S|MYEOV2_ENST00000489698.1_5'Flank	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2											breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TTACCTCTTCCGACACCACAG	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18161	0.0		0.0	False		,,,				2504	0.0					uc002vyu.1		NA																	0					0						c.(373-375)TCG>TCA		hypothetical protein LOC150678 isoform 1							110.0	85.0	93.0					2																	241069334		2203	4300	6503	SO:0001628	intergenic_variant	150678							g.chr2:241069334C>T	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352		2.37:g.241069334C>T							p.S125S	NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	4	375	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	Error:Variant_position_missing_in_Q8WXC6_after_alignment					Q8N110	Silent	SNP	ENST00000607357.1	37	c.375G>A																																																																																					0.617	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336		34	65	0	0	0	0	34	65				
ING5	84289	broad.mit.edu	37	2	242650884	242650884	+	Silent	SNP	C	C	T	rs142180451	byFrequency	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr2:242650884C>T	ENST00000313552.6	+	4	395	c.369C>T	c.(367-369)tcC>tcT	p.S123S	ING5_ENST00000406941.1_Silent_p.S123S|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	123					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTGAAAGCTCCGGAGGGCGAG	0.393													C|||	6	0.00119808	0.0	0.0058	5008	,	,		17974	0.0		0.002	False		,,,				2504	0.0					uc002wcd.2		NA																	0					0						c.(367-369)TCC>TCT		inhibitor of growth family, member 5		C		0,4406		0,0,2203	129.0	145.0	140.0		369	-6.9	0.0	2	dbSNP_134	140	11,8581	8.4+/-32.0	1,9,4286	no	coding-synonymous	ING5	NM_032329.4		1,9,6489	TT,TC,CC		0.128,0.0,0.0846		123/241	242650884	11,12987	2203	4296	6499	SO:0001819	synonymous_variant	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242650884C>T	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.369C>T	2.37:g.242650884C>T						ING5_uc002wcc.1_Silent_p.S123S	p.S123S	NM_032329	NP_115705	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	4	394	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	123					A8K1P3|Q53NU6|Q57Z54|Q9BS30	Silent	SNP	ENST00000313552.6	37	c.369C>T	CCDS33425.1																																																																																				0.393	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329		44	94	0	0	0	0	44	94				
LZTS3	9762	broad.mit.edu	37	20	3147717	3147717	+	Silent	SNP	C	C	T	rs375679850	byFrequency	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr20:3147717C>T	ENST00000329152.3	-	1	1490	c.93G>A	c.(91-93)ccG>ccA	p.P31P	LZTS3_ENST00000360342.3_Silent_p.P31P|LZTS3_ENST00000337576.5_Silent_p.P31P			O60299	LZTS3_HUMAN		31						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											GGCGGGGGTCCGGGGGTCCAA	0.706													C|||	3	0.000599042	0.0015	0.0	5008	,	,		13907	0.001		0.0	False		,,,				2504	0.0					uc002wia.1		NA																	0				pancreas(1)	1						c.(91-93)CCG>CCA		ProSAPiP1 protein		C		5,4197		0,5,2096	6.0	7.0	7.0		93	-1.8	1.0	20		7	3,8323		0,3,4160	no	coding-synonymous	ProSAPiP1	NM_014731.2		0,8,6256	TT,TC,CC		0.036,0.119,0.0639		31/674	3147717	8,12520	2101	4163	6264	SO:0001819	synonymous_variant	9762					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr20:3147717C>T																												ENST00000329152.3:c.93G>A	20.37:g.3147717C>T						ProSAPiP1_uc002wib.1_Silent_p.P31P	p.P31P	NM_014731	NP_055546	O60299	PRIP1_HUMAN			1	1491	-			31					A2A2Q7|D3DVX6|Q8IXX8	Silent	SNP	ENST00000329152.3	37	c.93G>A	CCDS13049.1																																																																																				0.706	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			9	10	0	0	0	0	9	10				
RIN2	54453	broad.mit.edu	37	20	19981537	19981537	+	Missense_Mutation	SNP	G	G	T	rs372004694		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr20:19981537G>T	ENST00000255006.6	+	12	2941	c.2792G>T	c.(2791-2793)gGc>gTc	p.G931V	RIN2_ENST00000440354.2_Missense_Mutation_p.G449V|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	882					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GATCCTTATGGCATCATTTTC	0.532																																						uc002wro.1		NA																	0				lung(4)|ovary(1)	5						c.(2644-2646)GGC>GTC		Ras and Rab interactor 2							63.0	66.0	65.0					20																	19981537		2005	4178	6183	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19981537G>T	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2792G>T	20.37:g.19981537G>T	ENSP00000255006:p.Gly931Val					RIN2_uc010gcu.1_Missense_Mutation_p.G449V|RIN2_uc010gcv.1_Missense_Mutation_p.G676V	p.G882V	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN			11	2681	+			882					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.2645G>T	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579486	0.28180	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.24151	2.92;1.87	5.8	5.8	0.92144	.	0.187614	0.44688	D	0.000440	T	0.25344	0.0616	L	0.36672	1.1	0.43021	D	0.994574	B;P	0.38922	0.421;0.651	B;B	0.38428	0.112;0.273	T	0.01393	-1.1366	9	.	.	.	-17.1152	19.6542	0.95830	0.0:0.0:1.0:0.0	.	449;882	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	V	931;449	ENSP00000255006:G931V;ENSP00000391239:G449V	.	G	+	2	0	RIN2	19929537	1.000000	0.71417	0.212000	0.23672	0.073000	0.16967	4.454000	0.60068	2.747000	0.94245	0.462000	0.41574	GGC		0.532	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			22	63	1	0	5.45e-15	6.27e-15	22	63				
CST3	1471	broad.mit.edu	37	20	23614554	23614554	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr20:23614554T>A	ENST00000398411.1	-	3	522	c.440A>T	c.(439-441)tAg>tTg	p.*147L	CST3_ENST00000376925.3_Nonstop_Mutation_p.*147L|RP11-218C14.8_ENST00000602977.1_lincRNA|CST3_ENST00000398409.1_Nonstop_Mutation_p.*147L			P01034	CYTC_HUMAN	cystatin C	0					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell activation (GO:0001775)|cellular response to hydrogen peroxide (GO:0070301)|circadian sleep/wake cycle, REM sleep (GO:0042747)|defense response (GO:0006952)|embryo implantation (GO:0007566)|extracellular fibril organization (GO:0043206)|eye development (GO:0001654)|negative regulation of blood vessel remodeling (GO:0060313)|negative regulation of cell death (GO:0060548)|negative regulation of collagen catabolic process (GO:0010711)|negative regulation of elastin catabolic process (GO:0060311)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|regulation of programmed cell death (GO:0043067)|regulation of tissue remodeling (GO:0034103)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|salivary gland development (GO:0007431)|Sertoli cell development (GO:0060009)	basement membrane (GO:0005604)|cell projection (GO:0042995)|contractile fiber (GO:0043292)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TACAGACCCCTAGGCGTCCTG	0.577																																						uc002wtm.2		NA																	0				ovary(1)	1						c.(439-441)TAG>TTG		cystatin C precursor							137.0	110.0	119.0					20																	23614554		2203	4300	6503	SO:0001578	stop_lost	1471				defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding	g.chr20:23614554T>A		CCDS13158.1	20p11.2	2008-04-15	2008-04-15		ENSG00000101439	ENSG00000101439			2475	protein-coding gene	gene with protein product		604312	"""cystatin C (amyloid angiopathy and cerebral hemorrhage)"""			8486384	Standard	NM_000099		Approved		uc002wtn.1	P01034	OTTHUMG00000032080	ENST00000398411.1:c.440A>T	20.37:g.23614554T>A						CST3_uc002wtn.1_Nonstop_Mutation_p.*147L	p.*147L	NM_000099	NP_000090	P01034	CYTC_HUMAN			3	515	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		147					B2R5J9|D3DW42|Q6FGW9	Nonstop_Mutation	SNP	ENST00000398411.1	37	c.440A>T	CCDS13158.1	.	.	.	.	.	.	.	.	.	.	T	6.034	0.374697	0.11409	.	.	ENSG00000101439	ENST00000398411;ENST00000376925;ENST00000398409	.	.	.	2.78	2.78	0.32641	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.406	0.26991	0.0:0.0:0.0:1.0	.	.	.	.	L	147	.	.	X	-	2	0	CST3	23562554	.	.	0.020000	0.16555	0.028000	0.11728	.	.	1.538000	0.49270	0.397000	0.26171	TAG		0.577	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256831.1	NM_000099		31	97	0	0	0	0	31	97				
BAGE2	85319	broad.mit.edu	37	21	11058238	11058238	+	RNA	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr21:11058238G>A	ENST00000470054.1	-	0	409							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCGGCTCCTGCAGCACAAGG	0.433																																						uc002yit.1		NA																	0					0						c.(202-204)CAG>TAG		B melanoma antigen family, member 2 precursor							86.0	69.0	74.0					21																	11058238		692	1591	2283			85319							g.chr21:11058238G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058238G>A						BAGE_uc002yiw.1_RNA	p.Q68*	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	3	410	-								A8K925|Q08ER0	Nonsense_Mutation	SNP	ENST00000470054.1	37	c.202C>T																																																																																					0.433	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		14	83	0	0	0	0	14	83				
NRIP1	8204	broad.mit.edu	37	21	16339770	16339770	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr21:16339770T>A	ENST00000400202.1	-	3	1456	c.744A>T	c.(742-744)gaA>gaT	p.E248D	NRIP1_ENST00000400199.1_Missense_Mutation_p.E248D|NRIP1_ENST00000318948.4_Missense_Mutation_p.E248D			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	248	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TAGCCCTTTTTTCCACCATGC	0.473																																						uc002yjx.2		NA																	0					0						c.(742-744)GAA>GAT		nuclear receptor interacting protein 1							187.0	163.0	171.0					21																	16339770		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339770T>A	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.744A>T	21.37:g.16339770T>A	ENSP00000383063:p.Glu248Asp						p.E248D	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	1342	-			248			Repression domain 1.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.744A>T	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.601657	0.66445	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.10099	2.91;2.91;2.91	5.99	-3.78	0.04333	.	0.117336	0.56097	D	0.000027	T	0.20292	0.0488	L	0.55481	1.735	0.38097	D	0.937145	D	0.63880	0.993	P	0.58520	0.84	T	0.02950	-1.1090	10	0.46703	T	0.11	-19.187	17.4914	0.87704	0.0:0.7133:0.0:0.2867	.	248	P48552	NRIP1_HUMAN	D	248	ENSP00000383060:E248D;ENSP00000383063:E248D;ENSP00000327213:E248D	ENSP00000327213:E248D	E	-	3	2	NRIP1	15261641	0.066000	0.20996	0.986000	0.45419	0.982000	0.71751	-0.672000	0.05244	-0.414000	0.07495	0.528000	0.53228	GAA		0.473	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		19	47	0	0	0	0	19	47				
TRAPPC10	7109	broad.mit.edu	37	21	45479008	45479008	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr21:45479008A>T	ENST00000291574.4	+	6	878	c.703A>T	c.(703-705)Atg>Ttg	p.M235L	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.M235L	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	235					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TGTTTTCGAGATGCTGCAGCA	0.468																																						uc002zea.2		NA																	0				ovary(1)|skin(1)	2						c.(703-705)ATG>TTG		trafficking protein particle complex 10							79.0	69.0	72.0					21																	45479008		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45479008A>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.703A>T	21.37:g.45479008A>T	ENSP00000291574:p.Met235Leu					TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Missense_Mutation_p.M235L	p.M235L	NM_003274	NP_003265	P48553	TPC10_HUMAN			6	872	+			235					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.703A>T	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.504560	0.85176	.	.	ENSG00000160218	ENST00000380221;ENST00000291574	T;T	0.32023	1.47;1.47	5.46	5.46	0.80206	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	M	0.62723	1.935	0.80722	D	1	B;P	0.44090	0.31;0.826	B;P	0.57009	0.173;0.811	T	0.51474	-0.8701	10	0.87932	D	0	.	15.5102	0.75776	1.0:0.0:0.0:0.0	.	235;235	P48553;Q86SI7	TPC10_HUMAN;.	L	235	ENSP00000369570:M235L;ENSP00000291574:M235L	ENSP00000291574:M235L	M	+	1	0	TRAPPC10	44303436	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.014000	0.93635	2.064000	0.61679	0.459000	0.35465	ATG		0.468	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		9	28	0	0	0	0	9	28				
SYN3	8224	broad.mit.edu	37	22	32909744	32909744	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr22:32909744C>G	ENST00000358763.2	-	14	1920	c.1678G>C	c.(1678-1680)Gac>Cac	p.D560H	SYN3_ENST00000332840.5_Missense_Mutation_p.D560H|SYN3_ENST00000467095.1_5'UTR	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	560	E.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTGGCCTCGTCTTCACTTGGG	0.562																																						uc003amx.2		NA																	0				skin(1)	1						c.(1678-1680)GAC>CAC		synapsin III isoform IIIa							162.0	120.0	134.0					22																	32909744		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32909744C>G	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1678G>C	22.37:g.32909744C>G	ENSP00000351614:p.Asp560His					SYN3_uc003amy.2_3'UTR|SYN3_uc003amz.2_Missense_Mutation_p.D559H	p.D560H	NM_003490	NP_003481	O14994	SYN3_HUMAN			13	1837	-			560			E.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.1678G>C	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502941	0.85176	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000445154	T;T	0.46819	0.86;0.86	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.70876	-0.4753	10	0.72032	D	0.01	-5.6822	19.5608	0.95371	0.0:1.0:0.0:0.0	.	559;560	Q17R54;O14994	.;SYN3_HUMAN	H	560;560;166	ENSP00000351614:D560H;ENSP00000330219:D560H	ENSP00000330219:D560H	D	-	1	0	SYN3	31239744	1.000000	0.71417	0.887000	0.34795	0.673000	0.39480	7.469000	0.80959	2.698000	0.92095	0.561000	0.74099	GAC		0.562	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			28	55	0	0	0	0	28	55				
GRAP2	9402	broad.mit.edu	37	22	40364132	40364132	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr22:40364132G>T	ENST00000344138.4	+	6	809	c.546G>T	c.(544-546)atG>atT	p.M182I	GRAP2_ENST00000399090.2_Missense_Mutation_p.M69I|GRAP2_ENST00000544756.1_Missense_Mutation_p.M110I|GRAP2_ENST00000543252.1_Missense_Mutation_p.M142I|GRAP2_ENST00000407075.3_Missense_Mutation_p.M182I|GRAP2_ENST00000540310.1_Missense_Mutation_p.M116I	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	182					cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GACCTTCGATGAACCGGAAGC	0.657																																						uc003ayh.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(544-546)ATG>ATT		GRB2-related adaptor protein 2							39.0	33.0	35.0					22																	40364132		2203	4299	6502	SO:0001583	missense	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40364132G>T	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.546G>T	22.37:g.40364132G>T	ENSP00000339186:p.Met182Ile					GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Missense_Mutation_p.M156I|GRAP2_uc011aon.1_Missense_Mutation_p.M116I|GRAP2_uc010gya.1_Missense_Mutation_p.M182I|GRAP2_uc011aoo.1_Missense_Mutation_p.M110I|GRAP2_uc011aop.1_Missense_Mutation_p.M142I|GRAP2_uc011aoq.1_Missense_Mutation_p.M69I|GRAP2_uc003ayj.1_Missense_Mutation_p.M182I	p.M182I	NM_004810	NP_004801	O75791	GRAP2_HUMAN			6	809	+			182					B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	c.546G>T	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	G	8.458	0.854594	0.17106	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.73897	-0.18;-0.79;1.64;1.09;0.81;-0.18	5.44	3.3	0.37823	.	4.107910	0.00589	N	0.000348	T	0.62950	0.2470	L	0.27053	0.805	0.28204	N	0.927248	B;B;B;B;B	0.28933	0.015;0.001;0.228;0.013;0.001	B;B;B;B;B	0.20955	0.016;0.001;0.032;0.006;0.001	T	0.51426	-0.8707	10	0.22109	T	0.4	-14.7113	8.737	0.34534	0.0824:0.1497:0.7679:0.0	.	69;182;116;156;182	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	I	182;142;156;116;110;69;182	ENSP00000339186:M182I;ENSP00000446350:M142I;ENSP00000444734:M116I;ENSP00000442195:M110I;ENSP00000382040:M69I;ENSP00000385607:M182I	ENSP00000339186:M182I	M	+	3	0	GRAP2	38694078	1.000000	0.71417	0.984000	0.44739	0.518000	0.34316	2.240000	0.43088	1.267000	0.44247	0.514000	0.50259	ATG		0.657	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		8	10	1	0	0.00448238	0.00464372	8	10				
PHF21B	112885	broad.mit.edu	37	22	45281799	45281799	+	Missense_Mutation	SNP	C	C	T	rs377570315		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr22:45281799C>T	ENST00000313237.5	-	11	1367	c.1217G>A	c.(1216-1218)gGt>gAt	p.G406D	PHF21B_ENST00000396103.3_Missense_Mutation_p.G364D|PHF21B_ENST00000403565.1_Missense_Mutation_p.G202D|PHF21B_ENST00000404079.2_Missense_Mutation_p.G352D	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	406							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CCAGGGCACACCCTCGTCTTT	0.597																																						uc003bfn.2		NA																	0				ovary(2)|skin(1)	3						c.(1216-1218)GGT>GAT		PHD finger protein 21B isoform 1		C	ASP/GLY,ASP/GLY,ASP/GLY	0,4406		0,0,2203	138.0	131.0	133.0		1091,1055,1217	2.3	0.8	22		133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PHF21B	NM_001135862.2,NM_001242450.1,NM_138415.4	94,94,94	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	364/490,352/478,406/532	45281799	1,13005	2203	4300	6503	SO:0001583	missense	112885						zinc ion binding	g.chr22:45281799C>T	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.1217G>A	22.37:g.45281799C>T	ENSP00000324403:p.Gly406Asp					PHF21B_uc003bfm.2_Missense_Mutation_p.G202D|PHF21B_uc011aqk.1_Missense_Mutation_p.G352D|PHF21B_uc011aql.1_Missense_Mutation_p.G364D	p.G406D	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	11	1368	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	406					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	c.1217G>A	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361975	0.61403	0.0	1.16E-4	ENSG00000056487	ENST00000403565;ENST00000313237;ENST00000396103;ENST00000404079	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	4.59	2.32	0.28847	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.264482	0.27491	N	0.019121	T	0.48995	0.1531	L	0.47190	1.495	0.80722	D	1	P;P;P;P	0.43857	0.814;0.544;0.819;0.666	P;B;B;B	0.46479	0.518;0.162;0.412;0.252	T	0.36890	-0.9729	10	0.26408	T	0.33	-28.2298	4.7433	0.13024	0.0:0.4047:0.4528:0.1425	.	364;352;406;202	Q96EK2-3;B7Z4F8;Q96EK2;B1AHC5	.;.;PF21B_HUMAN;.	D	202;406;364;352	ENSP00000385053:G202D;ENSP00000324403:G406D;ENSP00000379410:G364D;ENSP00000385105:G352D	ENSP00000324403:G406D	G	-	2	0	PHF21B	43660463	0.898000	0.30612	0.762000	0.31397	0.953000	0.61014	2.403000	0.44530	1.106000	0.41623	0.585000	0.79938	GGT		0.597	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		57	84	0	0	0	0	57	84				
CELSR1	9620	broad.mit.edu	37	22	46931727	46931727	+	Silent	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr22:46931727G>T	ENST00000262738.3	-	1	1340	c.1341C>A	c.(1339-1341)atC>atA	p.I447I	CELSR1_ENST00000395964.1_Silent_p.I447I|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	447	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTCCACCTCGATGTACACGG	0.667																																						uc003bhw.1		NA																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(1339-1341)ATC>ATA		cadherin EGF LAG seven-pass G-type receptor 1							65.0	39.0	48.0					22																	46931727		2199	4294	6493	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931727G>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1341C>A	22.37:g.46931727G>T							p.I447I	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1341	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	447			Extracellular (Potential).|Cadherin 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.1341C>A	CCDS14076.1																																																																																				0.667	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		16	35	1	0	1.52e-12	1.72e-12	16	35				
PLCL2	23228	broad.mit.edu	37	3	17052859	17052859	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:17052859G>A	ENST00000418129.2	+	2	2108	c.1643G>A	c.(1642-1644)aGg>aAg	p.R548K	PLCL2_ENST00000396755.2_Missense_Mutation_p.R548K|PLCL2_ENST00000432376.1_Missense_Mutation_p.R548K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	674	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTTCTTGCTAGGGTTTTTCCC	0.398																																						uc011awc.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(1996-1998)AGG>AAG		phospholipase C-like 2 isoform 1							86.0	89.0	88.0					3																	17052859		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052859G>A	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1643G>A	3.37:g.17052859G>A	ENSP00000409637:p.Arg548Lys					PLCL2_uc011awd.1_Missense_Mutation_p.R548K	p.R666K	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			5	2102	+			674			PI-PLC Y-box.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.1997G>A	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.097318|4.097318	0.76870|0.76870	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|D;D;D	.|0.82433	.|-1.61;-1.61;-1.61	5.36|5.36	5.36|5.36	0.76844|0.76844	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	.|0.048594	.|0.85682	.|D	.|0.000000	D|D	0.91696|0.91696	0.7375|0.7375	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.77557	.|0.99	D|D	0.92581|0.92581	0.6074|0.6074	4|9	.|0.87932	.|D	.|0	.|.	19.0829|19.0829	0.93190|0.93190	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|674	.|Q9UPR0	.|PLCL2_HUMAN	R|K	292|548;675;548;548	.|ENSP00000409637:R548K;ENSP00000379979:R548K;ENSP00000412836:R548K	.|ENSP00000285094:R675K	G|R	+|+	1|2	0|0	PLCL2|PLCL2	17027863|17027863	1.000000|1.000000	0.71417|0.71417	0.493000|0.493000	0.27502|0.27502	0.948000|0.948000	0.59901|0.59901	9.869000|9.869000	0.99810|0.99810	2.502000|2.502000	0.84385|0.84385	0.555000|0.555000	0.69702|0.69702	GGG|AGG		0.398	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			16	23	0	0	0	0	16	23				
EPHA3	2042	broad.mit.edu	37	3	89456492	89456492	+	Silent	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:89456492C>G	ENST00000336596.2	+	8	1893	c.1668C>G	c.(1666-1668)ctC>ctG	p.L556L	EPHA3_ENST00000494014.1_Silent_p.L556L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	556					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTATTCTCCTCACTGTTGTCA	0.408										TSP Lung(6;0.00050)																												uc003dqy.2		NA																	0				lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(1666-1668)CTC>CTG		ephrin receptor EphA3 isoform a precursor							201.0	168.0	179.0					3																	89456492		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89456492C>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1668C>G	3.37:g.89456492C>G		TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.L556L	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	8	1893	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	556			Helical; (Potential).		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.1668C>G	CCDS2922.1																																																																																				0.408	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		10	13	0	0	0	0	10	13				
EPHA6	285220	broad.mit.edu	37	3	97439174	97439174	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:97439174G>C	ENST00000389672.5	+	15	2892	c.2854G>C	c.(2854-2856)Gat>Cat	p.D952H		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	858						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTCAGCAAGCGATGCATGGAG	0.463																																						uc010how.1		NA																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(2854-2856)GAT>CAT		EPH receptor A6 isoform a							96.0	101.0	100.0					3																	97439174		2093	4255	6348	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97439174G>C	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.2854G>C	3.37:g.97439174G>C	ENSP00000374323:p.Asp952His					EPHA6_uc003drt.2_Missense_Mutation_p.D344H|EPHA6_uc010hox.1_RNA	p.D952H	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			15	2897	+			857			Protein kinase.|Cytoplasmic (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.2854G>C	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238466	0.79800	.	.	ENSG00000080224	ENST00000389672	D	0.88896	-2.44	5.41	5.41	0.78517	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.97511	0.9185	H	0.99726	4.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99116	1.0848	9	0.87932	D	0	.	19.5526	0.95328	0.0:0.0:1.0:0.0	.	857	Q9UF33	EPHA6_HUMAN	H	952	ENSP00000374323:D952H	ENSP00000374323:D952H	D	+	1	0	EPHA6	98921864	1.000000	0.71417	0.763000	0.31416	0.765000	0.43378	9.813000	0.99286	2.701000	0.92244	0.563000	0.77884	GAT		0.463	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		45	60	0	0	0	0	45	60				
KALRN	8997	broad.mit.edu	37	3	124369736	124369736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:124369736C>T	ENST00000291478.5	+	5	815	c.652C>T	c.(652-654)Cct>Tct	p.P218S	KALRN_ENST00000393496.1_Missense_Mutation_p.P256S|KALRN_ENST00000428018.2_Missense_Mutation_p.P186S|KALRN_ENST00000360013.3_Missense_Mutation_p.P1915S|KALRN_ENST00000459915.1_Missense_Mutation_p.P7S	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1914					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACCCACACCTCCTAAAAACCC	0.542																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(5743-5745)CCT>TCT		kalirin, RhoGEF kinase isoform 1							94.0	86.0	89.0					3																	124369736		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124369736C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.652C>T	3.37:g.124369736C>T	ENSP00000291478:p.Pro218Ser					KALRN_uc003ehi.2_Missense_Mutation_p.P256S|KALRN_uc003ehk.2_Missense_Mutation_p.P218S|KALRN_uc011bjz.1_Missense_Mutation_p.P7S|KALRN_uc003ehj.2_Missense_Mutation_p.P186S	p.P1915S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			38	5870	+			1914					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.5743C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769489	0.49680	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000454902;ENST00000428018;ENST00000459915	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	4.83	3.93	0.45458	Dbl homology (DH) domain (2);	0.069996	0.64402	D	0.000018	T	0.66015	0.2747	M	0.79258	2.445	0.43508	D	0.995762	B;B;B;B	0.26744	0.158;0.011;0.033;0.084	B;B;B;B	0.19946	0.027;0.008;0.02;0.026	T	0.65747	-0.6093	10	0.41790	T	0.15	.	13.7964	0.63173	0.17:0.83:0.0:0.0	.	7;218;256;1914	E7EUZ8;C9JQ37;O60229-5;O60229	.;.;.;KALRN_HUMAN	S	1915;256;218;186;186;7	ENSP00000353109:P1915S;ENSP00000377134:P256S;ENSP00000291478:P218S;ENSP00000402419:P186S;ENSP00000420318:P7S	ENSP00000291478:P218S	P	+	1	0	KALRN	125852426	0.994000	0.37717	0.999000	0.59377	0.097000	0.18754	2.818000	0.48041	1.167000	0.42706	0.655000	0.94253	CCT		0.542	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		23	55	0	0	0	0	23	55				
STAG1	10274	broad.mit.edu	37	3	136141433	136141433	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:136141433T>C	ENST00000383202.2	-	19	2112	c.1856A>G	c.(1855-1857)cAg>cGg	p.Q619R	STAG1_ENST00000236698.5_Missense_Mutation_p.Q619R|STAG1_ENST00000434713.2_Missense_Mutation_p.Q393R|STAG1_ENST00000536929.1_Missense_Mutation_p.Q203R	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	619					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAACTTAATCTGTTTTAATAA	0.308																																						uc003era.1		NA																	0				ovary(2)	2						c.(1855-1857)CAG>CGG		stromal antigen 1							78.0	79.0	79.0					3																	136141433		2202	4300	6502	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136141433T>C	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1856A>G	3.37:g.136141433T>C	ENSP00000372689:p.Gln619Arg					STAG1_uc003erb.1_Missense_Mutation_p.Q619R|STAG1_uc003erc.1_Missense_Mutation_p.Q393R|STAG1_uc010hua.1_Missense_Mutation_p.Q482R	p.Q619R	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			19	2148	-			619					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.1856A>G	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.449128	0.84101	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	M	0.77313	2.365	0.80722	D	1	B;P;B	0.51791	0.273;0.948;0.273	B;P;B	0.52481	0.105;0.7;0.105	T	0.10314	-1.0635	10	0.21540	T	0.41	.	15.9214	0.79580	0.0:0.0:0.0:1.0	.	636;619;619	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	R	619;619;393;203	ENSP00000372689:Q619R;ENSP00000236698:Q619R;ENSP00000404396:Q393R;ENSP00000445787:Q203R	ENSP00000236698:Q619R	Q	-	2	0	STAG1	137624123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.156000	0.67533	0.524000	0.50904	CAG		0.308	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		21	52	0	0	0	0	21	52				
CLSTN2	64084	broad.mit.edu	37	3	140281753	140281753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:140281753C>A	ENST00000458420.3	+	14	2503	c.2313C>A	c.(2311-2313)tgC>tgA	p.C771*		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	771					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGATTAAGTGCTCAGAACTCA	0.562										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(2311-2313)TGC>TGA		calsyntenin 2 precursor							57.0	55.0	56.0					3																	140281753		2203	4300	6503	SO:0001587	stop_gained	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140281753C>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2313C>A	3.37:g.140281753C>A	ENSP00000402460:p.Cys771*	HNSCC(16;0.037)					p.C771*	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			14	2503	+			771			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Nonsense_Mutation	SNP	ENST00000458420.3	37	c.2313C>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	39	7.732373	0.98459	.	.	ENSG00000158258	ENST00000458420	.	.	.	4.95	1.06	0.20224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.0334	8.2891	0.31948	0.0:0.6527:0.0:0.3473	.	.	.	.	X	771	.	.	C	+	3	2	CLSTN2	141764443	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	1.736000	0.38187	0.214000	0.20742	-0.136000	0.14681	TGC		0.562	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		10	38	1	0	0.000673444	0.000703186	10	38				
PIK3CA	5290	broad.mit.edu	37	3	178916946	178916946	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:178916946G>C	ENST00000263967.3	+	2	490	c.333G>C	c.(331-333)aaG>aaC	p.K111N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.K111N(12)|p.K111_L113delKIL(2)|p.K111_I112>N(1)|p.K111del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTGAAGAAAAGATCCTCAATC	0.328		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		16	Substitution - Missense(12)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.K111N(10)|p.K111E(7)|p.K111R(1)|p.K111del(1)|p.K111_I112>N(1)	breast(8)|large_intestine(3)|endometrium(3)|lung(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(331-333)AAG>AAC		phosphoinositide-3-kinase, catalytic, alpha							82.0	78.0	79.0					3																	178916946		1820	4070	5890	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916946G>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.333G>C	3.37:g.178916946G>C	ENSP00000263967:p.Lys111Asn	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.K111N	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	490	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		111					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.333G>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079872	0.55753	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.76709	0.89;-1.04	5.52	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.78637	2.42	0.58432	D	0.999999	D	0.76494	0.999	D	0.70935	0.971	D	0.86015	0.1503	9	.	.	.	-23.7658	10.9773	0.47473	0.1444:0.0:0.8556:0.0	.	111	P42336	PK3CA_HUMAN	N	111	ENSP00000263967:K111N;ENSP00000417479:K111N	.	K	+	3	2	PIK3CA	180399640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.950000	0.40323	2.584000	0.87258	0.555000	0.69702	AAG		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			6	42	0	0	0	0	6	42				
MCF2L2	23101	broad.mit.edu	37	3	182897459	182897459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:182897459C>T	ENST00000328913.3	-	29	3424	c.3127G>A	c.(3127-3129)Gac>Aac	p.D1043N	MCF2L2_ENST00000473233.1_Missense_Mutation_p.D1043N|MCF2L2_ENST00000468976.1_5'Flank	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1043							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGACTGTCGTCCGACTGGAAA	0.587																																						uc003fli.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(3127-3129)GAC>AAC		Rho family guanine-nucleotide exchange factor							83.0	91.0	88.0					3																	182897459		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182897459C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.3127G>A	3.37:g.182897459C>T	ENSP00000328118:p.Asp1043Asn						p.D1043N	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		29	3217	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		1043					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.3127G>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103226	0.76983	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.01963	4.53;4.58	4.32	3.43	0.39272	.	0.858384	0.10118	N	0.713785	T	0.01976	0.0062	N	0.24115	0.695	0.35276	D	0.78093	B	0.24651	0.108	B	0.20955	0.032	T	0.43653	-0.9378	10	0.29301	T	0.29	.	7.1798	0.25765	0.0:0.8753:0.0:0.1247	.	1043	Q86YR7	MF2L2_HUMAN	N	1043	ENSP00000328118:D1043N;ENSP00000420070:D1043N	ENSP00000328118:D1043N	D	-	1	0	MCF2L2	184380153	0.234000	0.23783	0.422000	0.26621	0.489000	0.33432	1.686000	0.37669	1.003000	0.39130	0.511000	0.50034	GAC		0.587	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		85	82	0	0	0	0	85	82				
RFC4	5984	broad.mit.edu	37	3	186518927	186518927	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:186518927T>G	ENST00000392481.2	-	3	470	c.189A>C	c.(187-189)aaA>aaC	p.K63N	RFC4_ENST00000433496.1_Missense_Mutation_p.K63N|RFC4_ENST00000296273.2_Missense_Mutation_p.K63N	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	63					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTAAAGATTTTTTCAGCACTG	0.378																																						uc003fqz.2		NA																	0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(187-189)AAA>AAC		replication factor C 4							119.0	126.0	124.0					3																	186518927		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186518927T>G		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.189A>C	3.37:g.186518927T>G	ENSP00000376272:p.Lys63Asn					RFC4_uc011bsc.1_Missense_Mutation_p.K63N|RFC4_uc011bsd.1_Missense_Mutation_p.K63N	p.K63N	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	3	412	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		63					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.189A>C	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.426761	0.62733	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000418288;ENST00000447345;ENST00000427785;ENST00000448497	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;1.81	5.96	3.5	0.40072	.	0.042786	0.85682	D	0.000000	T	0.53530	0.1802	M	0.71871	2.18	0.52099	D	0.999949	P;P	0.43477	0.808;0.481	P;P	0.53490	0.727;0.519	T	0.55036	-0.8203	10	0.59425	D	0.04	.	9.474	0.38860	0.0:0.1508:0.0:0.8492	.	63;63	B4DM41;P35249	.;RFC4_HUMAN	N	63	ENSP00000399769:K63N;ENSP00000376272:K63N;ENSP00000296273:K63N;ENSP00000411300:K63N;ENSP00000413065:K63N;ENSP00000407982:K63N;ENSP00000415099:K63N	ENSP00000296273:K63N	K	-	3	2	RFC4	188001621	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.048000	0.30379	1.048000	0.40298	0.533000	0.62120	AAA		0.378	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		24	106	0	0	0	0	24	106				
MFI2	4241	broad.mit.edu	37	3	196735690	196735690	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:196735690C>T	ENST00000296350.5	-	12	1785	c.1672G>A	c.(1672-1674)Ggc>Agc	p.G558S		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	558	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CTGAAGGCGCCGCGGTAGCCG	0.672																																						uc003fxk.3		NA																	0					0						c.(1672-1674)GGC>AGC		melanoma-associated antigen p97 isoform 1							67.0	63.0	64.0					3																	196735690		2203	4300	6503	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196735690C>T		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1672G>A	3.37:g.196735690C>T	ENSP00000296350:p.Gly558Ser						p.G558S	NM_005929	NP_005920	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	12	1785	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		558			Transferrin-like 2.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.1672G>A	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485586	0.84854	.	.	ENSG00000163975	ENST00000296350	T	0.64803	-0.12	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.84275	0.5436	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88336	0.2971	10	0.59425	D	0.04	-42.579	16.8176	0.85738	0.0:1.0:0.0:0.0	.	558	P08582	TRFM_HUMAN	S	558	ENSP00000296350:G558S	ENSP00000296350:G558S	G	-	1	0	MFI2	198220087	1.000000	0.71417	0.962000	0.40283	0.307000	0.27823	7.581000	0.82535	2.283000	0.76528	0.557000	0.71058	GGC		0.672	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			26	60	0	0	0	0	26	60				
DRD5	1816	broad.mit.edu	37	4	9784899	9784899	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:9784899A>C	ENST00000304374.2	+	1	1642	c.1246A>C	c.(1246-1248)Aac>Cac	p.N416H		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	416					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)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CATGATGCCCAACGCCGTTAC	0.567																																						uc003gmb.3		NA																	0				skin(1)	1						c.(1246-1248)AAC>CAC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						93.0	78.0	83.0					4																	9784899		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784899A>C	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1246A>C	4.37:g.9784899A>C	ENSP00000306129:p.Asn416His						p.N416H	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1642	+			416			Cytoplasmic (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1246A>C	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	a	0.005	-2.228607	0.00280	.	.	ENSG00000169676	ENST00000304374	T	0.64803	-0.12	4.84	3.66	0.41972	.	0.166596	0.50627	N	0.000118	T	0.54175	0.1842	L	0.31207	0.915	0.28187	N	0.927912	D	0.67145	0.996	P	0.54499	0.754	T	0.48031	-0.9070	10	0.07030	T	0.85	.	9.6742	0.40030	0.9187:0.0:0.0813:0.0	.	416	P21918	DRD5_HUMAN	H	416	ENSP00000306129:N416H	ENSP00000306129:N416H	N	+	1	0	DRD5	9393997	0.998000	0.40836	0.017000	0.16124	0.040000	0.13550	3.594000	0.54008	0.890000	0.36211	0.377000	0.23210	AAC		0.567	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			19	48	0	0	0	0	19	48				
LCORL	254251	broad.mit.edu	37	4	17910776	17910776	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:17910776T>A	ENST00000382226.5	-	5	731	c.623A>T	c.(622-624)gAg>gTg	p.E208V	LCORL_ENST00000539056.1_Missense_Mutation_p.E121V|LCORL_ENST00000382224.1_Missense_Mutation_p.E124V|LCORL_ENST00000326877.4_Missense_Mutation_p.E208V	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	208					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCCTTCCTGCTCTTCCTGAAG	0.348																																						uc003gpq.2		NA																	0					0						c.(622-624)GAG>GTG		ligand dependent nuclear receptor							188.0	182.0	184.0					4																	17910776		2203	4300	6503	SO:0001583	missense	254251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:17910776T>A		CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.623A>T	4.37:g.17910776T>A	ENSP00000371661:p.Glu208Val					LCORL_uc011bxk.1_Missense_Mutation_p.E121V	p.E208V	NM_153686	NP_710153	Q8N3X6	LCORL_HUMAN			5	634	-			208					Q96NK1	Missense_Mutation	SNP	ENST00000382226.5	37	c.623A>T	CCDS54749.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.058341	0.76074	.	.	ENSG00000178177	ENST00000326877;ENST00000539056;ENST00000382224;ENST00000382226	.	.	.	5.43	5.43	0.79202	.	0.173294	0.49916	D	0.000133	T	0.75525	0.3861	L	0.54323	1.7	0.46678	D	0.999151	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.983	T	0.78188	-0.2301	9	0.87932	D	0	.	15.4731	0.75456	0.0:0.0:0.0:1.0	.	121;208	B4DSW0;Q8N3X6-3	.;.	V	208;121;124;208	.	ENSP00000317566:E208V	E	-	2	0	LCORL	17519874	1.000000	0.71417	0.982000	0.44146	0.825000	0.46686	4.924000	0.63418	2.066000	0.61787	0.482000	0.46254	GAG		0.348	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_153686		28	42	0	0	0	0	28	42				
SLIT2	9353	broad.mit.edu	37	4	20619185	20619185	+	Missense_Mutation	SNP	G	G	T	rs111791287		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:20619185G>T	ENST00000504154.1	+	36	4512	c.4260G>T	c.(4258-4260)aaG>aaT	p.K1420N	SLIT2_ENST00000503837.1_Missense_Mutation_p.K1416N|SLIT2_ENST00000273739.5_Missense_Mutation_p.K1433N|SLIT2_ENST00000503823.1_Missense_Mutation_p.K1412N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1420					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGGCGATCAAGTGCAAGCATG	0.557																																						uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(4258-4260)AAG>AAT		slit homolog 2 precursor							105.0	89.0	94.0					4																	20619185		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20619185G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4260G>T	4.37:g.20619185G>T	ENSP00000422591:p.Lys1420Asn					SLIT2_uc003gps.1_Missense_Mutation_p.K1412N	p.K1420N	NM_004787	NP_004778	O94813	SLIT2_HUMAN			36	4464	+			1420					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.4260G>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940828	0.34283	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80824	-1.41;-1.42;-1.34;-1.39	5.61	3.56	0.40772	Follistatin-like, N-terminal (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.516951	0.23444	N	0.048119	T	0.68495	0.3007	L	0.33093	0.98	0.47778	D	0.999513	B;B	0.28512	0.214;0.036	B;B	0.22152	0.038;0.013	T	0.66846	-0.5820	10	0.46703	T	0.11	.	9.6058	0.39632	0.2913:0.0:0.7087:0.0	.	1412;1420	O94813-3;O94813	.;SLIT2_HUMAN	N	1412;1420;1433;1416;1416	ENSP00000427548:K1412N;ENSP00000422591:K1420N;ENSP00000273739:K1433N;ENSP00000422261:K1416N	ENSP00000273739:K1433N	K	+	3	2	SLIT2	20228283	0.004000	0.15560	0.999000	0.59377	0.850000	0.48378	0.069000	0.14552	1.367000	0.46095	0.557000	0.71058	AAG		0.557	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			13	15	1	0	5.51e-06	5.88e-06	13	15				
RCHY1	25898	broad.mit.edu	37	4	76407873	76407873	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:76407873G>C	ENST00000324439.5	-	9	1059	c.661C>G	c.(661-663)Ctc>Gtc	p.L221V	RCHY1_ENST00000513257.1_Missense_Mutation_p.L212V|RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000380840.2_Missense_Mutation_p.L181V|RCHY1_ENST00000512706.1_Missense_Mutation_p.L199V	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	221					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L221I(1)		large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCATTGCAGAGAATCTGAAAA	0.318																																						uc003hik.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	pancreas(1)	1						c.(661-663)CTC>GTC		ring finger and CHY zinc finger domain							69.0	68.0	68.0					4																	76407873		2203	4300	6503	SO:0001583	missense	25898				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:76407873G>C	AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.661C>G	4.37:g.76407873G>C	ENSP00000321239:p.Leu221Val					RCHY1_uc010iio.2_Missense_Mutation_p.L117V|RCHY1_uc003hij.2_3'UTR|RCHY1_uc003hil.2_Missense_Mutation_p.L212V|RCHY1_uc010iip.2_3'UTR|RCHY1_uc010iiq.2_RNA|RCHY1_uc010iir.2_Missense_Mutation_p.L181V	p.L221V	NM_015436	NP_056251	Q96PM5	ZN363_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		9	793	-			221					B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	ENST00000324439.5	37	c.661C>G	CCDS3567.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404601	0.42613	.	.	ENSG00000163743	ENST00000324439;ENST00000380840;ENST00000512706;ENST00000513257;ENST00000507014	T;T;T	0.33438	1.41;1.41;1.42	5.87	5.87	0.94306	Rubredoxin-type Fe(Cys)4 protein (1);	0.165279	0.53938	D	0.000057	T	0.41026	0.1141	M	0.82716	2.605	0.80722	D	1	P;B;P;P	0.51057	0.802;0.451;0.802;0.941	B;B;B;B	0.39971	0.177;0.086;0.177;0.315	T	0.50906	-0.8772	10	0.54805	T	0.06	-15.3632	17.7183	0.88344	0.0:0.0:1.0:0.0	.	172;199;212;221	E7EMC8;E7ETW5;Q96PM5-2;Q96PM5	.;.;.;ZN363_HUMAN	V	221;181;199;212;172	ENSP00000321239:L221V;ENSP00000370220:L181V;ENSP00000423976:L199V	ENSP00000321239:L221V	L	-	1	0	RCHY1	76626897	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.757000	0.62213	2.770000	0.95276	0.650000	0.86243	CTC		0.318	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		7	17	0	0	0	0	7	17				
ENPEP	2028	broad.mit.edu	37	4	111398004	111398004	+	Missense_Mutation	SNP	C	C	A	rs375739854	byFrequency	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:111398004C>A	ENST00000265162.5	+	1	776	c.434C>A	c.(433-435)cCg>cAg	p.P145Q		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	145					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		ACCCGGCTCCCGGAGCTGAAG	0.627																																						uc003iab.3		NA																	0				skin(3)|ovary(1)|breast(1)	5						c.(433-435)CCG>CAG		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						69.0	81.0	77.0					4																	111398004		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111398004C>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.434C>A	4.37:g.111398004C>A	ENSP00000265162:p.Pro145Gln						p.P145Q	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	776	+		Hepatocellular(203;0.217)	145			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.434C>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869405	0.51588	.	.	ENSG00000138792	ENST00000265162	T	0.02395	4.31	5.62	5.62	0.85841	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.229150	0.45361	D	0.000369	T	0.05868	0.0153	N	0.20530	0.585	0.58432	D	0.999997	D	0.71674	0.998	D	0.71414	0.973	T	0.59674	-0.7410	10	0.12430	T	0.62	.	12.9291	0.58276	0.0:0.9259:0.0:0.074	.	145	Q07075	AMPE_HUMAN	Q	145	ENSP00000265162:P145Q	ENSP00000265162:P145Q	P	+	2	0	ENPEP	111617453	1.000000	0.71417	0.600000	0.28864	0.007000	0.05969	4.489000	0.60309	2.648000	0.89879	0.561000	0.74099	CCG		0.627	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			51	108	1	0	2.53e-16	2.93e-16	51	108				
SEC24D	9871	broad.mit.edu	37	4	119649746	119649746	+	Silent	SNP	A	A	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:119649746A>T	ENST00000280551.6	-	22	3166	c.2928T>A	c.(2926-2928)atT>atA	p.I976I	SEC24D_ENST00000379735.5_Silent_p.I977I|SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000511481.1_Silent_p.I607I|SEC24D_ENST00000505134.1_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	976					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTTGTTGGATAATACCCATTA	0.308																																						uc003ici.3		NA																	0					0						c.(2926-2928)ATT>ATA		Sec24-related protein D							141.0	137.0	138.0					4																	119649746		2203	4297	6500	SO:0001819	synonymous_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119649746A>T	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.2928T>A	4.37:g.119649746A>T						SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Silent_p.I977I	p.I976I	NM_014822	NP_055637	O94855	SC24D_HUMAN			22	3200	-			976					Q8IYI7	Silent	SNP	ENST00000280551.6	37	c.2928T>A	CCDS3710.1																																																																																				0.308	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			7	25	0	0	0	0	7	25				
DCLK2	166614	broad.mit.edu	37	4	151168815	151168815	+	Silent	SNP	G	G	A	rs551849647		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:151168815G>A	ENST00000296550.7	+	13	2593	c.1839G>A	c.(1837-1839)ccG>ccA	p.P613P	DCLK2_ENST00000302176.8_Silent_p.P630P|DCLK2_ENST00000506325.1_Silent_p.P612P	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	613	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGAGTTTCCGGCCCCCTACT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		17942	0.0		0.0	False		,,,				2504	0.001				GBM(195;186 2215 13375 16801 37459)	uc003ilm.3		NA																	0				ovary(3)	3						c.(1837-1839)CCG>CCA		doublecortin-like kinase 2 isoform a							75.0	78.0	77.0					4																	151168815		2203	4300	6503	SO:0001819	synonymous_variant	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151168815G>A	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1839G>A	4.37:g.151168815G>A						DCLK2_uc003iln.3_Silent_p.P612P|DCLK2_uc003ilo.3_Silent_p.P630P|DCLK2_uc003ilp.3_RNA	p.P613P	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN			13	1939	+	all_hematologic(180;0.151)		613			Protein kinase.		C9J5Q9|Q59GC8|Q8N399	Silent	SNP	ENST00000296550.7	37	c.1839G>A	CCDS34076.1																																																																																				0.512	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		12	25	0	0	0	0	12	25				
WDR17	116966	broad.mit.edu	37	4	177077229	177077229	+	Splice_Site	SNP	G	G	T	rs371253486		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:177077229G>T	ENST00000280190.4	+	19	2688		c.e19-1		WDR17_ENST00000507824.2_Splice_Site|WDR17_ENST00000508596.1_Splice_Site|WDR17_ENST00000393643.2_Splice_Site			Q8IZU2	WDR17_HUMAN	WD repeat domain 17											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTCTATTGTAGTGGGACAAAG	0.368																																						uc003iuj.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.e19-1		WD repeat domain 17 isoform 1							116.0	115.0	116.0					4																	177077229		2203	4300	6503	SO:0001630	splice_region_variant	116966							g.chr4:177077229G>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2533-1G>T	4.37:g.177077229G>T						WDR17_uc003iuk.2_Splice_Site_p.W821_splice|WDR17_uc003ium.3_Splice_Site_p.W821_splice|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Splice_Site_p.W64_splice	p.W845_splice	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	19	2689	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)						E7EQX0|Q0QD35	Splice_Site	SNP	ENST00000280190.4	37	c.2533_splice	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344354	0.82022	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824;ENST00000443118	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6653	0.95890	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR17	177314223	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	9.312000	0.96287	2.652000	0.90054	0.655000	0.94253	.		0.368	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		Intron	24	69	1	0	2.28e-19	2.67e-19	24	69				
FAT1	2195	broad.mit.edu	37	4	187538253	187538253	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr4:187538253A>C	ENST00000441802.2	-	11	9190	c.8981T>G	c.(8980-8982)cTt>cGt	p.L2994R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2994	Cadherin 27. {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						CGTGATAGTAAGAAGGTAATT	0.413										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.(8980-8982)CTT>CGT		FAT tumor suppressor 1 precursor							233.0	205.0	214.0					4																	187538253		1884	4112	5996	SO:0001583	missense	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.chr4:187538253A>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8981T>G	4.37:g.187538253A>C	ENSP00000406229:p.Leu2994Arg	HNSCC(5;0.00058)					p.L2994R	NM_005245	NP_005236	Q14517	FAT1_HUMAN			11	9169	-			2994			Extracellular (Potential).|Cadherin 27.			Missense_Mutation	SNP	ENST00000441802.2	37	c.8981T>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564008	0.65651	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.74526	-0.85	4.59	4.59	0.56863	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90532	0.7033	H	0.98407	4.225	0.80722	D	1	D	0.59767	0.986	D	0.62955	0.909	D	0.94045	0.7313	10	0.87932	D	0	.	14.4185	0.67168	1.0:0.0:0.0:0.0	.	2994	Q14517	FAT1_HUMAN	R	2994;2996	ENSP00000406229:L2994R	ENSP00000260147:L2996R	L	-	2	0	FAT1	187775247	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	9.044000	0.93805	2.058000	0.61347	0.455000	0.32223	CTT		0.413	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		13	23	0	0	0	0	13	23				
DNAH5	1767	broad.mit.edu	37	5	13928288	13928288	+	Splice_Site	SNP	C	C	A	rs369193065		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:13928288C>A	ENST00000265104.4	-	3	297		c.e3-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTTTCAATCTGGGAAAAAG	0.318									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.e3-1		dynein, axonemal, heavy chain 5		C		0,4406		0,0,2203	78.0	81.0	80.0			5.1	1.0	5		80	1,8599	1.2+/-3.3	0,1,4299	no	splice-3	DNAH5	NM_001369.2		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077			13928288	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13928288C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.193-1G>T	5.37:g.13928288C>A						DNAH5_uc003jfe.1_Splice_Site	p.I65_splice	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			3	235	-	Lung NSC(4;0.00476)							Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37	c.193_splice	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892094	0.52014	0.0	1.16E-4	ENSG00000039139	ENST00000265104	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8621	0.92276	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13981288	1.000000	0.71417	0.998000	0.56505	0.548000	0.35241	7.090000	0.76916	2.529000	0.85273	0.655000	0.94253	.		0.318	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Intron	23	72	1	0	3.6e-14	4.12e-14	23	72				
NIPBL	25836	broad.mit.edu	37	5	37048756	37048756	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:37048756A>G	ENST00000282516.8	+	39	7241	c.6742A>G	c.(6742-6744)Atg>Gtg	p.M2248V	NIPBL_ENST00000448238.2_Missense_Mutation_p.M2248V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2248					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)			AGATACACGTATGCAGCAGGC	0.269																																						uc003jkl.3		NA																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(6742-6744)ATG>GTG		delangin isoform A							35.0	38.0	37.0					5																	37048756		2193	4276	6469	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.chr5:37048756A>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.6742A>G	5.37:g.37048756A>G	ENSP00000282516:p.Met2248Val					NIPBL_uc003jkk.3_Missense_Mutation_p.M2248V|NIPBL_uc003jkn.2_5'Flank	p.M2248V	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)		39	7241	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2248			HEAT 4.		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6742A>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.933766	0.73442	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93763	-3.28;-3.28	6.06	6.06	0.98353	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.95529	0.8547	M	0.67397	2.05	0.80722	D	1	P;P	0.50272	0.792;0.933	P;P	0.59221	0.649;0.854	D	0.94887	0.8044	10	0.41790	T	0.15	-11.1078	16.6245	0.84952	1.0:0.0:0.0:0.0	.	2248;2248	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	V	2248	ENSP00000282516:M2248V;ENSP00000406266:M2248V	ENSP00000282516:M2248V	M	+	1	0	NIPBL	37084513	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.927000	0.92846	2.323000	0.78572	0.528000	0.53228	ATG		0.269	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		9	24	0	0	0	0	9	24				
LIFR	3977	broad.mit.edu	37	5	38482196	38482196	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:38482196C>T	ENST00000263409.4	-	20	2957	c.2795G>A	c.(2794-2796)cGt>cAt	p.R932H	LIFR_ENST00000453190.2_Missense_Mutation_p.R932H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	932					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATCTTCAGGACGCTCAGCTAC	0.433			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	uc010ive.1		NA		Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				ovary(3)|large_intestine(1)	4						c.(2794-2796)CGT>CAT		leukemia inhibitory factor receptor precursor							146.0	145.0	145.0					5																	38482196		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38482196C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2795G>A	5.37:g.38482196C>T	ENSP00000263409:p.Arg932His					LIFR_uc003jli.2_Missense_Mutation_p.R932H	p.R932H	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			20	3127	-	all_lung(31;0.00021)		932			Cytoplasmic (Potential).		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.2795G>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.587909	0.28268	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.56275	0.47;0.47	6.06	1.16	0.20824	.	1.449670	0.03217	N	0.176970	T	0.41903	0.1179	L	0.44542	1.39	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.08351	-1.0726	10	0.23302	T	0.38	-2.7793	2.4461	0.04507	0.1097:0.3981:0.1182:0.374	.	932	P42702	LIFR_HUMAN	H	932	ENSP00000263409:R932H;ENSP00000398368:R932H	ENSP00000263409:R932H	R	-	2	0	LIFR	38517953	0.006000	0.16342	0.208000	0.23602	0.869000	0.49853	0.541000	0.23207	0.164000	0.19529	0.650000	0.86243	CGT		0.433	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		29	188	0	0	0	0	29	188				
GPR98	84059	broad.mit.edu	37	5	90106737	90106737	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:90106737C>T	ENST00000405460.2	+	74	15756	c.15660C>T	c.(15658-15660)ttC>ttT	p.F5220F	GPR98_ENST00000425867.2_Silent_p.F881F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5220					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGGAACATTCAGCCTTGGGC	0.463																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(15658-15660)TTC>TTT		G protein-coupled receptor 98 precursor							91.0	85.0	87.0					5																	90106737		1915	4146	6061	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106737C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15660C>T	5.37:g.90106737C>T						GPR98_uc003kjt.2_Silent_p.F2926F|GPR98_uc003kjw.2_Silent_p.F881F	p.F5220F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15756	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5220			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.15660C>T	CCDS47246.1																																																																																				0.463	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		28	32	0	0	0	0	28	32				
NR2F1	7025	broad.mit.edu	37	5	92923999	92923999	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:92923999C>T	ENST00000327111.3	+	2	2527	c.840C>T	c.(838-840)gcC>gcT	p.A280A	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	280					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGGCCGCCGCCGGCCTGCATG	0.667																																						uc003kkj.2		NA																	0				urinary_tract(1)|ovary(1)|lung(1)	3						c.(838-840)GCC>GCT		nuclear receptor subfamily 2, group F, member 1																																				SO:0001819	synonymous_variant	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92923999C>T	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.840C>T	5.37:g.92923999C>T							p.A280A	NM_005654	NP_005645	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	2	2527	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	280						Silent	SNP	ENST00000327111.3	37	c.840C>T	CCDS4068.1																																																																																				0.667	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		25	23	0	0	0	0	25	23				
SLC27A6	28965	broad.mit.edu	37	5	128302163	128302163	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:128302163G>A	ENST00000262462.4	+	1	1343	c.333G>A	c.(331-333)ctG>ctA	p.L111L	SLC27A6_ENST00000395266.1_Silent_p.L111L|SLC27A6_ENST00000506176.1_Silent_p.L111L			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	111					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGGCTCTGCTGATGAGCAATG	0.552																																						uc003kuy.2		NA																	0					0						c.(331-333)CTG>CTA		solute carrier family 27 (fatty acid							82.0	65.0	71.0					5																	128302163		2203	4300	6503	SO:0001819	synonymous_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128302163G>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.333G>A	5.37:g.128302163G>A						SLC27A6_uc003kuz.2_Silent_p.L111L	p.L111L	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	2	729	+		all_cancers(142;0.0483)|Prostate(80;0.055)	111					Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	c.333G>A	CCDS4145.1																																																																																				0.552	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		13	10	0	0	0	0	13	10				
PCDHGB4	8641	broad.mit.edu	37	5	140769259	140769259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:140769259C>T	ENST00000519479.1	+	1	1808	c.1808C>T	c.(1807-1809)tCc>tTc	p.S603F	PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	603	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGCTGTCCTACCACGTG	0.662																																						uc003lkc.1		NA																	0					0						c.(1807-1809)TCC>TTC		protocadherin gamma subfamily B, 4 isoform 1							34.0	41.0	39.0					5																	140769259		2172	4283	6455	SO:0001583	missense	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140769259C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1808C>T	5.37:g.140769259C>T	ENSP00000428288:p.Ser603Phe					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.S603F	p.S603F	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1808	+			603			Extracellular (Potential).|Cadherin 6.		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1808C>T	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.062322	0.76187	.	.	ENSG00000253953	ENST00000519479	T	0.52057	0.68	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68933	0.3055	M	0.69358	2.11	0.27337	N	0.956613	D;D	0.76494	0.997;0.999	D;D	0.79108	0.981;0.992	T	0.63726	-0.6572	9	0.87932	D	0	.	18.4161	0.90571	0.0:1.0:0.0:0.0	.	603;603	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	F	603	ENSP00000428288:S603F	ENSP00000428288:S603F	S	+	2	0	PCDHGB4	140749443	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.650000	0.61440	2.503000	0.84419	0.563000	0.77884	TCC		0.662	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		28	21	0	0	0	0	28	21				
PCDHGC3	5098	broad.mit.edu	37	5	140857945	140857945	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:140857945G>A	ENST00000308177.3	+	1	2366	c.2262G>A	c.(2260-2262)ccG>ccA	p.P754P	PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	754					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATGTCGCCGCACCTTTACC	0.642											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lkv.1		NA																	0				ovary(1)|skin(1)	2						c.(2260-2262)CCG>CCA		protocadherin gamma subfamily C, 3 isoform 1							47.0	56.0	53.0					5																	140857945		2203	4299	6502	SO:0001819	synonymous_variant	5098				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140857945G>A	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2262G>A	5.37:g.140857945G>A			OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.P754P|PCDHGC3_uc003lkw.1_Intron	p.P754P	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2377	+			754			Cytoplasmic (Potential).		O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.2262G>A	CCDS4261.1																																																																																				0.642	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		51	37	0	0	0	0	51	37				
PDGFRB	5159	broad.mit.edu	37	5	149503837	149503837	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:149503837G>T	ENST00000261799.4	-	14	2468	c.1999C>A	c.(1999-2001)Ctg>Atg	p.L667M		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	667	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCCCCCAACAGGTTGACCACG	0.632			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		0				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(1999-2001)CTG>ATG		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						78.0	63.0	68.0					5																	149503837		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149503837G>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1999C>A	5.37:g.149503837G>T	ENSP00000261799:p.Leu667Met					PDGFRB_uc010jhd.2_Missense_Mutation_p.L506M	p.L667M	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	2468	-		all_hematologic(541;0.224)	667			Cytoplasmic (Potential).|Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1999C>A	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722347	0.68959	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.92099	-2.97	5.18	3.33	0.38152	Serine-threonine/tyrosine-protein kinase (1);Tyrosine-protein kinase, receptor class III, conserved site (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39759	N	0.001266	D	0.93792	0.8015	L	0.55213	1.73	0.49915	D	0.999833	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92585	0.6078	10	0.87932	D	0	.	9.0941	0.36629	0.2675:0.0:0.7325:0.0	.	667;667	A8KAM8;P09619	.;PGFRB_HUMAN	M	667;337	ENSP00000261799:L667M	ENSP00000261799:L667M	L	-	1	2	PDGFRB	149484030	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.445000	0.35079	0.520000	0.28426	0.462000	0.41574	CTG		0.632	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		19	22	1	0	4.35e-09	4.79e-09	19	22				
CDX1	1044	broad.mit.edu	37	5	149562339	149562339	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:149562339C>A	ENST00000231656.8	+	2	536	c.454C>A	c.(454-456)Cgg>Agg	p.R152R		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	152					anterior/posterior pattern specification (GO:0009952)|bone morphogenesis (GO:0060349)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTAAGACTCGGACCAAGGA	0.557																																						uc003lrq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(454-456)CGG>AGG		caudal type homeobox 1							169.0	175.0	173.0					5																	149562339		2203	4300	6503	SO:0001819	synonymous_variant	1044					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:149562339C>A	U51095	CCDS4304.1	5q32	2012-03-09	2007-07-09		ENSG00000113722	ENSG00000113722		"""Homeoboxes / ANTP class : HOXL subclass"""	1805	protein-coding gene	gene with protein product		600746	"""caudal type homeo box transcription factor 1"""			8530027	Standard	NM_001804		Approved		uc003lrq.3	P47902	OTTHUMG00000169772	ENST00000231656.8:c.454C>A	5.37:g.149562339C>A							p.R152R	NM_001804	NP_001795	P47902	CDX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	550	+		all_hematologic(541;0.224)	152					Q4VAU4|Q9NYK8	Silent	SNP	ENST00000231656.8	37	c.454C>A	CCDS4304.1																																																																																				0.557	CDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252328.7	NM_001804		97	73	1	0	9.72e-31	1.15e-30	97	73				
RNF44	22838	broad.mit.edu	37	5	175956543	175956543	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:175956543G>A	ENST00000274811.4	-	9	1641	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	RNF44_ENST00000537487.1_Missense_Mutation_p.H292Y|RNF44_ENST00000509404.1_5'Flank	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	373							zinc ion binding (GO:0008270)			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|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)			TCCGACTGATGGCTGTCCGGG	0.647																																						uc003mek.1		NA																	0					0						c.(1117-1119)CAT>TAT		ring finger protein 44							96.0	90.0	92.0					5																	175956543		2203	4300	6503	SO:0001583	missense	22838						zinc ion binding	g.chr5:175956543G>A	AB029023	CCDS4404.1	5q35.3	2013-01-09			ENSG00000146083	ENSG00000146083		"""RING-type (C3HC4) zinc fingers"""	19180	protein-coding gene	gene with protein product						10470851	Standard	NM_014901		Approved	KIAA1100	uc003mek.1	Q7L0R7	OTTHUMG00000130664	ENST00000274811.4:c.1117C>T	5.37:g.175956543G>A	ENSP00000274811:p.His373Tyr					RNF44_uc011dfo.1_Missense_Mutation_p.H281Y|RNF44_uc003mel.1_Missense_Mutation_p.H62Y	p.H373Y	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1642	-	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	373					B4DYE0|Q8ND05|Q9UPQ2	Missense_Mutation	SNP	ENST00000274811.4	37	c.1117C>T	CCDS4404.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.80|16.80	3.222476|3.222476	0.58668|0.58668	.|.	.|.	ENSG00000146083|ENSG00000146083	ENST00000274811;ENST00000537487|ENST00000506378	T;T|.	0.67523|.	-0.27;-0.27|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.103274|.	0.64402|.	D|.	0.000004|.	T|T	0.71813|0.71813	0.3384|0.3384	L|L	0.58101|0.58101	1.795|1.795	0.41943|0.41943	D|D	0.990627|0.990627	B;D|.	0.64830|.	0.149;0.994|.	B;P|.	0.58331|.	0.053;0.837|.	T|T	0.69760|0.69760	-0.5058|-0.5058	10|5	0.45353|.	T|.	0.12|.	-6.1674|-6.1674	18.2435|18.2435	0.89977|0.89977	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	62;373|.	Q6ZS76;Q7L0R7|.	.;RNF44_HUMAN|.	Y|L	373;292|127	ENSP00000274811:H373Y;ENSP00000440352:H292Y|.	ENSP00000274811:H373Y|.	H|P	-|-	1|2	0|0	RNF44|RNF44	175889149|175889149	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.113000|0.113000	0.19764|0.19764	8.977000|8.977000	0.93446|0.93446	2.642000|2.642000	0.89623|0.89623	0.549000|0.549000	0.68633|0.68633	CAT|CCA		0.647	RNF44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253156.2			22	25	0	0	0	0	22	25				
NSD1	64324	broad.mit.edu	37	5	176709523	176709523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:176709523C>T	ENST00000439151.2	+	19	5995	c.5950C>T	c.(5950-5952)Cga>Tga	p.R1984*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1881*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1715*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1715*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1984	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.		R -> Q (in SOTOS1; loss of enzyme activity). {ECO:0000269|PubMed:12807965}.		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)		ATGCAGAGCTCGAATTCGCTA	0.373			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	GRCh37	CM043040|CM051589	NSD1	M		c.(5950-5952)CGA>TGA		nuclear receptor binding SET domain protein 1							211.0	206.0	208.0					5																	176709523		2203	4300	6503	SO:0001587	stop_gained	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.chr5:176709523C>T	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.5950C>T	5.37:g.176709523C>T	ENSP00000395929:p.Arg1984*	HNSCC(47;0.14)				NSD1_uc003mft.3_Nonsense_Mutation_p.R1715*|NSD1_uc011dfx.1_Nonsense_Mutation_p.R1632*	p.R1984*	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	6088	+	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)	1984		R -> Q (in SOTOSS; loss of enzyme activity).	SET.		Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.5950C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	45	11.810564	0.99605	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.77	5.77	0.91146	.	0.000000	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5706	0.76333	0.1385:0.8615:0.0:0.0	.	.	.	.	X	1715;1984;1715;1881	.	ENSP00000343209:R1715X	R	+	1	2	NSD1	176642129	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.468000	0.45102	2.884000	0.98904	0.655000	0.94253	CGA		0.373	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		38	28	0	0	0	0	38	28				
GNB2L1	10399	broad.mit.edu	37	5	180666087	180666087	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr5:180666087G>A	ENST00000512805.1	-	5	1024	c.616C>T	c.(616-618)Ctc>Ttc	p.L206F	GNB2L1_ENST00000376817.4_Missense_Mutation_p.L162F|GNB2L1_ENST00000505461.1_5'Flank|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511566.1_Missense_Mutation_p.L206F|GNB2L1_ENST00000514455.1_5'Flank|SNORD96A_ENST00000606577.1_RNA|GNB2L1_ENST00000511900.1_Missense_Mutation_p.L158F	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	206					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)	p.L206I(1)		lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		GAAGCACAGAGGGATCCATCT	0.522																																						uc003mni.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(616-618)CTC>TTC		guanine nucleotide binding protein (G protein),							250.0	212.0	225.0					5																	180666087		2203	4300	6503	SO:0001583	missense	10399				apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding	g.chr5:180666087G>A	M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"""WD repeat domain containing"""	4399	protein-coding gene	gene with protein product	"""Receptor for Activated C Kinase 1"""	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.616C>T	5.37:g.180666087G>A	ENSP00000426909:p.Leu206Phe					GNB2L1_uc003mnh.1_Missense_Mutation_p.L165F|GNB2L1_uc003mnk.1_Missense_Mutation_p.L128F|GNB2L1_uc003mnj.1_Missense_Mutation_p.L160F|GNB2L1_uc003mnl.1_5'UTR|GNB2L1_uc011dhk.1_Missense_Mutation_p.L206F|GNB2L1_uc010jls.2_3'UTR	p.L206F	NM_006098	NP_006089	P63244	GBLP_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)	5	722	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	206			WD 5.		B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Missense_Mutation	SNP	ENST00000512805.1	37	c.616C>T	CCDS34324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	4.999907|4.999907	0.93227|0.93227	.|.	.|.	ENSG00000204628|ENSG00000204628	ENST00000511566;ENST00000376817;ENST00000512805;ENST00000511900;ENST00000512968;ENST00000510199;ENST00000502844;ENST00000507000|ENST00000504128	D;T;T;T;T;T;T;T|.	0.81579|.	-1.51;0.12;0.12;0.12;0.12;0.12;0.12;0.12|.	5.79|5.79	5.79|5.79	0.91817|0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50188|0.50188	0.1601|0.1601	N|N	0.13352|0.13352	0.335|0.335	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.999;1.0|.	T|T	0.43669|0.43669	-0.9377|-0.9377	10|5	0.87932|.	D|.	0|.	-20.4511|-20.4511	17.5093|17.5093	0.87755|0.87755	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	177;206;158;206|.	B4DVD2;E9KL35;D6RAC2;P63244|.	.;.;.;GBLP_HUMAN|.	F|L	206;162;206;158;224;254;192;165|112	ENSP00000426101:L206F;ENSP00000366013:L162F;ENSP00000426909:L206F;ENSP00000422768:L158F;ENSP00000425008:L224F;ENSP00000423569:L254F;ENSP00000422029:L192F;ENSP00000421416:L165F|.	ENSP00000366013:L162F|.	L|P	-|-	1|2	0|0	GNB2L1|GNB2L1	180598693|180598693	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.782000|4.782000	0.62396|0.62396	2.742000|2.742000	0.94016|0.94016	0.591000|0.591000	0.81541|0.81541	CTC|CCT		0.522	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372943.2	NM_006098		47	45	0	0	0	0	47	45				
HIST1H3H	8357	broad.mit.edu	37	6	27778004	27778004	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:27778004G>A	ENST00000369163.2	+	1	163	c.153G>A	c.(151-153)gaG>gaA	p.E51E	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	51					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)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						CTCTCCGCGAGATTCGCCGCT	0.627																																						uc003njm.2		NA																	0				ovary(1)	1						c.(151-153)GAG>GAA		histone cluster 1, H3h							54.0	54.0	54.0					6																	27778004		2203	4300	6503	SO:0001819	synonymous_variant	8357				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27778004G>A	Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"""Histones / Replication-dependent"""	4775	protein-coding gene	gene with protein product		602818	"""H3 histone family, member K"", ""histone 1, H3h"""	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.153G>A	6.37:g.27778004G>A						HIST1H2BL_uc003njl.2_5'Flank	p.E51E	NM_003536	NP_003527	P68431	H31_HUMAN			1	163	+			51					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000369163.2	37	c.153G>A	CCDS4627.1																																																																																				0.627	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040151.1	NM_003536		29	53	0	0	0	0	29	53				
ABCF1	23	broad.mit.edu	37	6	30546284	30546284	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:30546284G>C	ENST00000326195.8	+	6	531	c.419G>C	c.(418-420)aGt>aCt	p.S140T	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.S140T	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	140					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CAGGATCAGAGTGAGGAAGAG	0.502																																						uc003nql.2		NA																	0				ovary(2)	2						c.(418-420)AGT>ACT		ATP-binding cassette, sub-family F, member 1							106.0	91.0	96.0					6																	30546284		2203	4300	6503	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30546284G>C	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.419G>C	6.37:g.30546284G>C	ENSP00000313603:p.Ser140Thr					ABCF1_uc003nqk.2_Missense_Mutation_p.S141T|ABCF1_uc003nqm.2_Missense_Mutation_p.S140T|ABCF1_uc010jsb.2_Intron	p.S140T	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN			6	514	+			140	S->A: Reduces phosphorylation. Inhibits strongly phosphorylation by CK2; when associated with S-109. Does not inhibits interaction with EIF2; when associated with S-109. Does not inhibit association with ribosomes; when associated with S- 109. Reduces EIF2 interaction with ribosomes; when associated with S-109. Does not inhibit protein synthesis; when associated with A-109.				A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.419G>C	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147773	0.78001	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867;ENST00000468958	T;T;T;T	0.58797	0.47;0.57;0.57;0.31	5.16	5.16	0.70880	.	0.096035	0.85682	D	0.000000	T	0.57961	0.2089	L	0.52759	1.655	0.80722	D	1	P;P;D	0.56287	0.568;0.951;0.975	B;P;P	0.55965	0.321;0.59;0.788	T	0.62854	-0.6766	10	0.87932	D	0	-14.2772	14.5088	0.67769	0.0:0.0:1.0:0.0	.	140;140;140	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	T	140;140;141;141;43	ENSP00000313603:S140T;ENSP00000365728:S140T;ENSP00000405512:S141T;ENSP00000440893:S43T	ENSP00000313603:S140T	S	+	2	0	ABCF1	30654263	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.402000	0.79972	2.578000	0.87016	0.563000	0.77884	AGT		0.502	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			19	5	0	0	0	0	19	5				
BRD2	6046	broad.mit.edu	37	6	32947816	32947816	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:32947816G>T	ENST00000374825.4	+	11	3754	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*	BRD2_ENST00000395289.2_Nonsense_Mutation_p.E720*|BRD2_ENST00000374831.4_Nonsense_Mutation_p.E685*|BRD2_ENST00000395287.1_Nonsense_Mutation_p.E720*|BRD2_ENST00000449085.2_Nonsense_Mutation_p.E638*|BRD2_ENST00000443797.2_Nonsense_Mutation_p.E565*	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	685	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						AGAAGAGATTGAGATTGATTT	0.483																																						uc003ocn.3		NA																	0				central_nervous_system(3)|stomach(2)	5						c.(2053-2055)GAG>TAG		bromodomain containing 2							68.0	67.0	67.0					6																	32947816		1510	2708	4218	SO:0001587	stop_gained	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32947816G>T	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2053G>T	6.37:g.32947816G>T	ENSP00000363958:p.Glu685*					BRD2_uc003ocq.3_Nonsense_Mutation_p.E685*|BRD2_uc003ocp.3_Nonsense_Mutation_p.E565*|BRD2_uc010juh.2_Nonsense_Mutation_p.E720*	p.E685*	NM_005104	NP_005095	P25440	BRD2_HUMAN			11	3754	+			685			ET.		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Nonsense_Mutation	SNP	ENST00000374825.4	37	c.2053G>T	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	52|52	19.788698|19.788698	0.99923|0.99923	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085|ENST00000449025	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.000000|.	0.51477|.	D|.	0.000097|.	.|T	.|0.66317	.|0.2777	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63435	.|-0.6638	.|3	0.87932|.	D|.	0|.	-27.7474|-27.7474	16.9633|16.9633	0.86278|0.86278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	685;685;720;565;720;638|690	.|.	ENSP00000363958:E685X|.	E|L	+|+	1|3	0|2	BRD2|BRD2	33055794|33055794	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	9.639000|9.639000	0.98448|0.98448	2.873000|2.873000	0.98535|0.98535	0.643000|0.643000	0.83706|0.83706	GAG|TTG		0.483	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			4	60	1	0	1.24e-05	1.32e-05	4	60				
DNAH8	1769	broad.mit.edu	37	6	38885712	38885712	+	Silent	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:38885712A>G	ENST00000359357.3	+	68	9923	c.9669A>G	c.(9667-9669)gcA>gcG	p.A3223A	DNAH8_ENST00000441566.1_Silent_p.A3187A|DNAH8_ENST00000449981.2_Silent_p.A3440A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3223	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGATGAGTGCAACAGGATTCC	0.333																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(9667-9669)GCA>GCG		dynein, axonemal, heavy polypeptide 8							54.0	59.0	57.0					6																	38885712		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38885712A>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9669A>G	6.37:g.38885712A>G						uc003oof.1_Intron	p.A3223A	NM_001371	NP_001362					68	10269	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.9669A>G																																																																																					0.333	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		3	43	0	0	0	0	3	43				
DEFB114	245928	broad.mit.edu	37	6	49928037	49928037	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:49928037C>T	ENST00000322066.3	-	2	177	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	60					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TACAATTTCTCAGTGCAGCAA	0.378																																						uc011dwp.1		NA																	0				ovary(1)	1						c.(178-180)GAG>AAG		beta-defensin 114 precursor							104.0	95.0	98.0					6																	49928037		2203	4299	6502	SO:0001583	missense	245928				defense response to bacterium	extracellular region		g.chr6:49928037C>T	DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"""Defensins, beta"""	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.178G>A	6.37:g.49928037C>T	ENSP00000312702:p.Glu60Lys						p.E60K	NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN			2	178	-	Lung NSC(77;0.042)		60					Q8NES9	Missense_Mutation	SNP	ENST00000322066.3	37	c.178G>A	CCDS34474.1	.	.	.	.	.	.	.	.	.	.	C	7.774	0.707989	0.15239	.	.	ENSG00000177684	ENST00000322066	.	.	.	3.55	1.77	0.24775	.	0.851711	0.09795	N	0.754850	T	0.09291	0.0229	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.36114	-0.9761	7	.	.	.	-1.2128	5.8912	0.18915	0.0:0.7578:0.0:0.2422	.	60	Q30KQ6	DB114_HUMAN	K	60	.	.	E	-	1	0	DEFB114	50035996	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.198000	0.17217	0.502000	0.28037	-0.142000	0.14014	GAG		0.378	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359665.1	NM_001037499		12	24	0	0	0	0	12	24				
SYNCRIP	10492	broad.mit.edu	37	6	86324795	86324795	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:86324795G>A	ENST00000369622.3	-	11	2051	c.1551C>T	c.(1549-1551)ccC>ccT	p.P517P	RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.P53L|SYNCRIP_ENST00000355238.6_Silent_p.P517P	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	517	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CTCTACCGCGGGGAGGAGCAG	0.577																																						uc003pla.2		NA																	0				ovary(2)	2						c.(1549-1551)CCC>CCT		synaptotagmin binding, cytoplasmic RNA							86.0	88.0	87.0					6																	86324795		2203	4300	6503	SO:0001819	synonymous_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86324795G>A	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1551C>T	6.37:g.86324795G>A						SYNCRIP_uc003pku.2_Silent_p.P517P|SYNCRIP_uc003pkw.2_Silent_p.P482P|SYNCRIP_uc003pky.2_Silent_p.P419P|SYNCRIP_uc003pkv.2_Silent_p.P517P|SYNCRIP_uc003pkx.2_Silent_p.P365P|SYNCRIP_uc003pkz.2_Silent_p.P482P	p.P517P	NM_006372	NP_006363	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	11	2092	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	517			Interaction with APOBEC1.|8 X 3 AA repeats of R-G-G.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Silent	SNP	ENST00000369622.3	37	c.1551C>T	CCDS5005.1																																																																																				0.577	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		85	45	0	0	0	0	85	45				
RFX6	222546	broad.mit.edu	37	6	117198535	117198535	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:117198535C>T	ENST00000332958.2	+	1	113	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	33					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTGCAGCTCCTGGGCAAGGG	0.667																																						uc003pxm.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(97-99)CTG>TTG		regulatory factor X, 6							20.0	23.0	22.0					6																	117198535		2203	4300	6503	SO:0001819	synonymous_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117198535C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.97C>T	6.37:g.117198535C>T							p.L33L	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			1	160	+			33					Q5T6B3	Silent	SNP	ENST00000332958.2	37	c.97C>T	CCDS5113.1																																																																																				0.667	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		15	6	0	0	0	0	15	6				
FAM184A	79632	broad.mit.edu	37	6	119345399	119345399	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:119345399C>G	ENST00000338891.7	-	2	1182	c.739G>C	c.(739-741)Gat>Cat	p.D247H	FAM184A_ENST00000368475.4_Missense_Mutation_p.D127H|FAM184A_ENST00000522284.1_Missense_Mutation_p.D127H|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.D127H|FAM184A_ENST00000521531.1_Missense_Mutation_p.D247H	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	247						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CCTTCATAATCCTCAATTAGT	0.423																																						uc003pyj.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.(739-741)GAT>CAT		hypothetical protein LOC79632 isoform 1							96.0	86.0	89.0					6																	119345399		1894	4106	6000	SO:0001583	missense	79632							g.chr6:119345399C>G	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.739G>C	6.37:g.119345399C>G	ENSP00000342604:p.Asp247His					FAM184A_uc003pyk.3_Missense_Mutation_p.D127H|FAM184A_uc003pyl.3_Missense_Mutation_p.D127H	p.D247H	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			2	1087	-			247			Potential.		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.739G>C	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118174	0.37339	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.3	4.43	0.53597	.	0.271361	0.41396	D	0.000899	T	0.34279	0.0892	L	0.46157	1.445	0.45946	D	0.998771	D;P;D	0.62365	0.991;0.942;0.991	P;P;P	0.62435	0.902;0.86;0.902	T	0.17592	-1.0364	10	0.59425	D	0.04	-6.4245	14.2122	0.65771	0.0:0.9276:0.0:0.0724	.	247;127;247	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	H	247;127;127;247;127	ENSP00000342604:D247H;ENSP00000326608:D127H;ENSP00000357460:D127H;ENSP00000430442:D247H;ENSP00000429826:D127H	ENSP00000342604:D247H	D	-	1	0	FAM184A	119387098	1.000000	0.71417	0.997000	0.53966	0.029000	0.11900	7.398000	0.79919	1.376000	0.46267	0.655000	0.94253	GAT		0.423	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		16	39	0	0	0	0	16	39				
ULBP2	80328	broad.mit.edu	37	6	150263229	150263229	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:150263229C>A	ENST00000367351.3	+	1	94	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	7					antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCGCCGCTACCAAGATCCTTC	0.607																																						uc003qno.2		NA																	0					0						c.(19-21)ACC>ACA		UL16 binding protein 2 precursor							28.0	30.0	29.0					6																	150263229		2203	4300	6503	SO:0001819	synonymous_variant	80328				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity	g.chr6:150263229C>A	AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.21C>A	6.37:g.150263229C>A						ULBP2_uc011eeh.1_Silent_p.T7T|ULBP2_uc010kij.2_Silent_p.T7T	p.T7T	NM_025217	NP_079493	Q9BZM5	N2DL2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	1	94	+		Ovarian(120;0.0907)	7					Q5VUN4	Silent	SNP	ENST00000367351.3	37	c.21C>A	CCDS5222.1																																																																																				0.607	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042669.1			18	7	1	0	1.34e-09	1.48e-09	18	7				
PDE10A	10846	broad.mit.edu	37	6	165862443	165862443	+	Silent	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr6:165862443T>A	ENST00000366882.1	-	6	493	c.339A>T	c.(337-339)gcA>gcT	p.A113A	PDE10A_ENST00000354448.4_Silent_p.A113A|PDE10A_ENST00000539869.2_Silent_p.A123A			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	113	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GGAAATACAGTGCAAATCCAT	0.368																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	0				ovary(3)|skin(2)	5						c.(337-339)GCA>GCT		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						72.0	77.0	75.0					6																	165862443		2203	4300	6503	SO:0001819	synonymous_variant	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165862443T>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.339A>T	6.37:g.165862443T>A						PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.A43A|PDE10A_uc003quo.2_Silent_p.A123A	p.A113A	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	6	580	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	113			GAF 1.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	ENST00000366882.1	37	c.339A>T																																																																																					0.368	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			23	38	0	0	0	0	23	38				
ZFAND2A	90637	broad.mit.edu	37	7	1197827	1197827	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:1197827T>G	ENST00000316495.3	-	2	281	c.22A>C	c.(22-24)Aag>Cag	p.K8Q	ZFAND2A_ENST00000401903.1_Missense_Mutation_p.K8Q|AC091729.9_ENST00000423008.1_RNA|AC091729.9_ENST00000422230.1_RNA|AC091729.9_ENST00000413706.1_RNA|ZFAND2A_ENST00000478137.1_5'Flank	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	8					cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		GAACAATGCTTCCCCAAATCA	0.408																																						uc003skc.2		NA																	0				ovary(1)	1						c.(22-24)AAG>CAG		zinc finger, AN1-type domain 2A							240.0	255.0	250.0					7																	1197827		2203	4300	6503	SO:0001583	missense	90637					cytoplasm|nucleus	zinc ion binding	g.chr7:1197827T>G	BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"""Zinc fingers, AN1-type domain containing"""	28073	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein"""	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.22A>C	7.37:g.1197827T>G	ENSP00000314619:p.Lys8Gln					ZFAND2A_uc003skd.3_Missense_Mutation_p.K8Q|uc003skf.1_5'Flank	p.K8Q	NM_182491	NP_872297	Q8N6M9	ZFN2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)	2	323	-		Ovarian(82;0.11)	8			AN1-type 1.		A4D220	Missense_Mutation	SNP	ENST00000316495.3	37	c.22A>C	CCDS5323.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.536657	0.27475	.	.	ENSG00000178381	ENST00000401903;ENST00000397083;ENST00000316495	T;T;T	0.48836	0.89;0.8;0.92	5.21	4.0	0.46444	Zinc finger, AN1-type (2);	0.210963	0.49916	D	0.000134	T	0.35711	0.0941	L	0.41632	1.29	0.36935	D	0.892099	B;B	0.20780	0.04;0.048	B;B	0.22152	0.038;0.024	T	0.31081	-0.9956	10	0.21014	T	0.42	-24.5553	9.7803	0.40645	0.0:0.0:0.3173:0.6826	.	8;8	A8MYA3;Q8N6M9	.;ZFN2A_HUMAN	Q	8	ENSP00000386031:K8Q;ENSP00000380273:K8Q;ENSP00000314619:K8Q	ENSP00000314619:K8Q	K	-	1	0	ZFAND2A	1164353	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.646000	0.37249	1.973000	0.57446	0.533000	0.62120	AAG		0.408	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	NM_182491		48	230	0	0	0	0	48	230				
PKD1L1	168507	broad.mit.edu	37	7	47898336	47898336	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:47898336C>G	ENST00000289672.2	-	27	4347	c.4297G>C	c.(4297-4299)Gaa>Caa	p.E1433Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1433	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTCGAGTTTTCTTGCTCAGAG	0.438																																						uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(4297-4299)GAA>CAA		polycystin-1L1							168.0	165.0	166.0					7																	47898336		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47898336C>G	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4297G>C	7.37:g.47898336C>G	ENSP00000289672:p.Glu1433Gln						p.E1433Q	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			27	4297	-			1433			Extracellular (Potential).|REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4297G>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739182	0.49045	.	.	ENSG00000158683	ENST00000289672	T	0.20598	2.06	5.03	5.03	0.67393	Egg jelly receptor, REJ-like (1);	0.497073	0.20074	N	0.099805	T	0.29158	0.0725	L	0.51422	1.61	0.09310	N	1	D	0.60160	0.987	P	0.50708	0.648	T	0.09640	-1.0665	10	0.35671	T	0.21	-15.7329	14.1797	0.65566	0.0:1.0:0.0:0.0	.	1433	Q8TDX9	PK1L1_HUMAN	Q	1433	ENSP00000289672:E1433Q	ENSP00000289672:E1433Q	E	-	1	0	PKD1L1	47864861	0.015000	0.18098	0.006000	0.13384	0.050000	0.14768	3.122000	0.50446	2.490000	0.84030	0.650000	0.86243	GAA		0.438	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		16	57	0	0	0	0	16	57				
ASB4	51666	broad.mit.edu	37	7	95157465	95157465	+	Silent	SNP	C	C	A	rs146416403		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:95157465C>A	ENST00000325885.5	+	3	899	c.828C>A	c.(826-828)gcC>gcA	p.A276A	ASB4_ENST00000428113.1_Silent_p.A276A	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	276					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AAGCTGGCGCCGAAGCCAATC	0.577											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kij.1		NA																	0				central_nervous_system(1)	1						c.(826-828)GCC>GCA		ankyrin repeat and SOCS box-containing protein 4							79.0	60.0	66.0					7																	95157465		2203	4300	6503	SO:0001819	synonymous_variant	51666				intracellular signal transduction			g.chr7:95157465C>A	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.828C>A	7.37:g.95157465C>A			OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_uc003unx.2_Silent_p.A276A	p.A276A	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	828	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		276			ANK 6.		A4D1H6|O14586|Q14D68|Q8TBT2	Silent	SNP	ENST00000325885.5	37	c.828C>A	CCDS5641.1																																																																																				0.577	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		21	35	1	0	8.1e-08	8.87e-08	21	35				
CHRM2	1129	broad.mit.edu	37	7	136700385	136700385	+	Missense_Mutation	SNP	A	A	G	rs142006633	byFrequency	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:136700385A>G	ENST00000445907.2	+	3	1301	c.773A>G	c.(772-774)aAc>aGc	p.N258S	CHRM2_ENST00000402486.3_Missense_Mutation_p.N258S|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.N258S|CHRM2_ENST00000320658.5_Missense_Mutation_p.N258S|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.N258S|CHRM2_ENST00000397608.3_Missense_Mutation_p.N258S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	258					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CTGGAGCACAACAAAATCCAG	0.512													A|||	5	0.000998403	0.0008	0.0043	5008	,	,		19195	0.0		0.001	False		,,,				2504	0.0					uc003vtf.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(772-774)AAC>AGC		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	A	SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN	0,4404		0,0,2202	55.0	59.0	58.0		773,773,773,773,773,773,773,773	4.3	1.0	7	dbSNP_134	58	15,8585	11.2+/-40.8	0,15,4285	yes	missense,missense,missense,missense,missense,missense,missense,missense	CHRM2	NM_000739.2,NM_001006626.1,NM_001006627.1,NM_001006628.1,NM_001006629.1,NM_001006630.1,NM_001006631.1,NM_001006632.1	46,46,46,46,46,46,46,46	0,15,6487	GG,GA,AA		0.1744,0.0,0.1153	benign,benign,benign,benign,benign,benign,benign,benign	258/467,258/467,258/467,258/467,258/467,258/467,258/467,258/467	136700385	15,12989	2202	4300	6502	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700385A>G		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.773A>G	7.37:g.136700385A>G	ENSP00000399745:p.Asn258Ser					CHRM2_uc003vtg.1_Missense_Mutation_p.N258S|CHRM2_uc003vtj.1_Missense_Mutation_p.N258S|CHRM2_uc003vtk.1_Missense_Mutation_p.N258S|CHRM2_uc003vtl.1_Missense_Mutation_p.N258S|CHRM2_uc003vtm.1_Missense_Mutation_p.N258S|CHRM2_uc003vti.1_Missense_Mutation_p.N258S|CHRM2_uc003vto.1_Missense_Mutation_p.N258S|CHRM2_uc003vtn.1_Missense_Mutation_p.N258S|uc003vtp.1_Intron	p.N258S	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1396	+			258			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.773A>G	CCDS5843.1	5	0.0022893772893772895	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	A	0.034	-1.314493	0.01331	0.0	0.001744	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11	5.4	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.854734	0.10885	N	0.623387	T	0.20210	0.0486	N	0.03608	-0.345	0.28153	N	0.929314	B	0.02656	0.0	B	0.01281	0.0	T	0.28681	-1.0036	10	0.02654	T	1	-12.3697	6.6014	0.22703	0.7356:0.0:0.2644:0.0	.	258	P08172	ACM2_HUMAN	S	258	ENSP00000399745:N258S;ENSP00000415386:N258S;ENSP00000319984:N258S;ENSP00000380733:N258S;ENSP00000384937:N258S;ENSP00000384401:N258S	ENSP00000319984:N258S	N	+	2	0	CHRM2	136350925	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	1.651000	0.37302	2.055000	0.61198	0.533000	0.62120	AAC		0.512	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			10	19	0	0	0	0	10	19				
MGAM	8972	broad.mit.edu	37	7	141730195	141730195	+	Missense_Mutation	SNP	G	G	A	rs567166329		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:141730195G>A	ENST00000549489.2	+	11	1350	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	MGAM_ENST00000475668.2_Missense_Mutation_p.E419K	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	419	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTATATGGATGAGAGAAGGGA	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		20085	0.0		0.0	False		,,,				2504	0.001					uc003vwy.2		NA																	0				ovary(2)	2						c.(1255-1257)GAG>AAG		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						114.0	99.0	103.0					7																	141730195		1844	4096	5940	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141730195G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1255G>A	7.37:g.141730195G>A	ENSP00000447378:p.Glu419Lys						p.E419K	NM_004668	NP_004659	O43451	MGA_HUMAN			11	1309	+	Melanoma(164;0.0272)		419			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.1255G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	9.326	1.059380	0.19987	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92545	-3.06	5.07	0.976	0.19727	Glycoside hydrolase, superfamily (1);	0.896444	0.09513	N	0.792015	D	0.88130	0.6354	L	0.37800	1.135	0.09310	N	1	B	0.20780	0.048	B	0.29785	0.107	T	0.67473	-0.5662	10	0.08599	T	0.76	.	16.0032	0.80310	0.0:0.5751:0.4249:0.0	.	419	O43451	MGA_HUMAN	K	419;419;296	ENSP00000447378:E419K	ENSP00000316431:E296K	E	+	1	0	MGAM	141376664	0.000000	0.05858	0.044000	0.18714	0.994000	0.84299	0.020000	0.13466	0.003000	0.14656	0.563000	0.77884	GAG		0.348	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			7	13	0	0	0	0	7	13				
PTPRN2	5799	broad.mit.edu	37	7	157959789	157959789	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr7:157959789G>A	ENST00000389418.4	-	6	753	c.744C>T	c.(742-744)gcC>gcT	p.A248A	PTPRN2_ENST00000404321.2_Silent_p.A271A|PTPRN2_ENST00000409483.1_Silent_p.A210A|PTPRN2_ENST00000389416.4_Silent_p.A231A|PTPRN2_ENST00000389413.3_Silent_p.A248A	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	248					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGCAGCATAGGCACTGAGGG	0.662																																						uc003wno.2		NA																	0				ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(742-744)GCC>GCT		protein tyrosine phosphatase, receptor type, N							25.0	22.0	23.0					7																	157959789		2203	4300	6503	SO:0001819	synonymous_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157959789G>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.744C>T	7.37:g.157959789G>A						PTPRN2_uc003wnp.2_Silent_p.A231A|PTPRN2_uc003wnq.2_Silent_p.A248A|PTPRN2_uc003wnr.2_Silent_p.A210A|PTPRN2_uc011kwa.1_Silent_p.A271A	p.A248A	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	6	865	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	248			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	c.744C>T	CCDS5947.1																																																																																				0.662	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			13	12	0	0	0	0	13	12				
MICU3	286097	broad.mit.edu	37	8	16884802	16884802	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:16884802G>T	ENST00000318063.5	+	1	56	c.14G>T	c.(13-15)cGa>cTa	p.R5L		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	5						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.R5P(1)									GCTGCGCTGCGAAGGCTCTTG	0.731																																						uc003wxd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(13-15)CGA>CTA		EF-hand domain family, member A2							12.0	14.0	14.0					8																	16884802		1867	3754	5621	SO:0001583	missense	286097					integral to membrane	calcium ion binding	g.chr8:16884802G>T	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.14G>T	8.37:g.16884802G>T	ENSP00000321455:p.Arg5Leu						p.R5L	NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN		Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)	1	56	+			5					Q8IYZ3	Missense_Mutation	SNP	ENST00000318063.5	37	c.14G>T	CCDS5999.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634207	0.47049	.	.	ENSG00000155970	ENST00000318063	T	0.55234	0.53	3.31	3.31	0.37934	.	0.235751	0.25422	N	0.030787	T	0.53722	0.1814	N	0.24115	0.695	0.30221	N	0.796848	D	0.60160	0.987	D	0.65010	0.931	T	0.53634	-0.8411	10	0.72032	D	0.01	1.0265	10.3971	0.44207	0.0:0.0:1.0:0.0	.	5	Q86XE3	EFHA2_HUMAN	L	5	ENSP00000321455:R5L	ENSP00000321455:R5L	R	+	2	0	EFHA2	16929173	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	2.441000	0.44864	2.149000	0.67028	0.462000	0.41574	CGA		0.731	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		8	15	1	0	1.59e-06	1.71e-06	8	15				
DUSP26	78986	broad.mit.edu	37	8	33451188	33451188	+	Missense_Mutation	SNP	C	C	T	rs141858173		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:33451188C>T	ENST00000256261.4	-	3	816	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	DUSP26_ENST00000523956.1_Missense_Mutation_p.R100Q	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	100	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GGGCGTGCCTCGCCACCGGCT	0.632																																						uc003xjp.2		NA																	0					0						c.(298-300)CGA>CAA		dual specificity phosphatase 26		C	GLN/ARG	0,4406		0,0,2203	54.0	47.0	50.0		299	5.0	1.0	8	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	no	missense	DUSP26	NM_024025.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	100/212	33451188	1,13005	2203	4300	6503	SO:0001583	missense	78986					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:33451188C>T	AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.299G>A	8.37:g.33451188C>T	ENSP00000256261:p.Arg100Gln					DUSP26_uc003xjq.2_Missense_Mutation_p.R100Q	p.R100Q	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)	3	632	-			100			Tyrosine-protein phosphatase.		D3DSV8|Q9BTW0	Missense_Mutation	SNP	ENST00000256261.4	37	c.299G>A	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361012	0.41801	0.0	1.16E-4	ENSG00000133878	ENST00000256261;ENST00000523956;ENST00000522982	D;D;D	0.85556	-2.0;-2.0;-2.0	4.97	4.97	0.65823	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.266617	0.37136	N	0.002239	T	0.74535	0.3729	N	0.11023	0.085	0.45554	D	0.998509	B	0.13145	0.007	B	0.09377	0.004	T	0.69483	-0.5133	10	0.42905	T	0.14	-13.3188	18.1919	0.89809	0.0:1.0:0.0:0.0	.	100	Q9BV47	DUS26_HUMAN	Q	100	ENSP00000256261:R100Q;ENSP00000429176:R100Q;ENSP00000430922:R100Q	ENSP00000256261:R100Q	R	-	2	0	DUSP26	33570730	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	5.928000	0.70088	2.470000	0.83445	0.563000	0.77884	CGA		0.632	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1	NM_024025		10	34	0	0	0	0	10	34				
PRDM14	63978	broad.mit.edu	37	8	70978695	70978695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:70978695C>T	ENST00000276594.2	-	5	1159	c.958G>A	c.(958-960)Ggt>Agt	p.G320S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	320	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TTCCCCGTACCTCCTTTTCCA	0.408																																					NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2		NA																	0				ovary(3)	3						c.(958-960)GGT>AGT		PR domain containing 14							115.0	116.0	115.0					8																	70978695		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70978695C>T	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.958G>A	8.37:g.70978695C>T	ENSP00000276594:p.Gly320Ser						p.G320S	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		5	1160	-	Breast(64;0.193)		320			SET.		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.958G>A	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	6.867	0.529340	0.13127	.	.	ENSG00000147596	ENST00000276594	T	0.71934	-0.61	4.46	-2.0	0.07433	SET domain (3);	0.619553	0.15098	N	0.280687	T	0.41926	0.1180	N	0.16166	0.38	0.09310	N	1	B	0.16166	0.016	B	0.15052	0.012	T	0.36578	-0.9742	10	0.02654	T	1	.	7.2146	0.25953	0.1047:0.4233:0.0:0.472	.	320	Q9GZV8	PRD14_HUMAN	S	320	ENSP00000276594:G320S	ENSP00000276594:G320S	G	-	1	0	PRDM14	71141249	0.021000	0.18746	0.024000	0.17045	0.644000	0.38419	0.391000	0.20784	-0.516000	0.06470	-0.150000	0.13652	GGT		0.408	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			36	50	0	0	0	0	36	50				
TMEM67	91147	broad.mit.edu	37	8	94821068	94821068	+	Splice_Site	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:94821068G>A	ENST00000453321.3	+	24	2498	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	TMEM67_ENST00000409623.3_Splice_Site_p.E733K	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	814					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AACTTTTCAGGAAAATTTGTG	0.308																																						uc011lgk.1		NA																	0				ovary(2)	2						c.(2440-2442)GAA>AAA		meckelin isoform 1							45.0	46.0	46.0					8																	94821068		2203	4300	6503	SO:0001630	splice_region_variant	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94821068G>A	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2440-1G>A	8.37:g.94821068G>A						TMEM67_uc010maw.2_Missense_Mutation_p.E520K|TMEM67_uc003yga.3_Missense_Mutation_p.E733K|TMEM67_uc011lgl.1_Missense_Mutation_p.E213K	p.E814K	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		24	2511	+	Breast(36;4.14e-07)		814					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.2440G>A	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	G	31	5.062152	0.93846	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.96856	-4.15;-4.15	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.985;0.99;0.988	D	0.98402	1.0568	9	.	.	.	-12.9195	19.1636	0.93544	0.0:0.0:1.0:0.0	.	814;733;733	Q5HYA8;B3KRU5;G5E9H2	MKS3_HUMAN;.;.	K	814;733	ENSP00000389998:E814K;ENSP00000386966:E733K	.	E	+	1	0	TMEM67	94890244	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.749000	0.91619	2.528000	0.85240	0.591000	0.81541	GAA		0.308	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704	Missense_Mutation	4	18	0	0	0	0	4	18				
TSPYL5	85453	broad.mit.edu	37	8	98289495	98289495	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:98289495G>A	ENST00000322128.3	-	1	681	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	193					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGGGGGCCCCGACCCTGCATC	0.622																																						uc003yhy.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(577-579)TCG>TTG		TSPY-like 5							82.0	87.0	86.0					8																	98289495		2203	4300	6503	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98289495G>A	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.578C>T	8.37:g.98289495G>A	ENSP00000322802:p.Ser193Leu						p.S193L	NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN			1	682	-	Breast(36;2.56e-06)		193					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.578C>T	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	G	9.473	1.096158	0.20552	.	.	ENSG00000180543	ENST00000322128	T	0.29655	1.56	4.4	2.61	0.31194	.	0.672113	0.11486	N	0.559265	T	0.16811	0.0404	N	0.19112	0.55	0.09310	N	1	B	0.32203	0.36	B	0.29353	0.101	T	0.20042	-1.0287	10	0.21540	T	0.41	0.0036	6.8918	0.24234	0.206:0.0:0.794:0.0	.	193	Q86VY4	TSYL5_HUMAN	L	193	ENSP00000322802:S193L	ENSP00000322802:S193L	S	-	2	0	TSPYL5	98358671	0.013000	0.17824	0.001000	0.08648	0.085000	0.17905	1.917000	0.39996	0.803000	0.34113	0.563000	0.77884	TCG		0.622	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		24	96	0	0	0	0	24	96				
RRM2B	50484	broad.mit.edu	37	8	103236307	103236307	+	Silent	SNP	A	A	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:103236307A>G	ENST00000251810.3	-	5	760	c.517T>C	c.(517-519)Ttg>Ctg	p.L173L	RRM2B_ENST00000395912.2_Silent_p.L121L|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000519962.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	173					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	ATCCATCGCAAGGCCCAATCT	0.333								Modulation of nucleotide pools																														uc003ykn.2		NA																	0				ovary(2)	2						c.(517-519)TTG>CTG	Direct_reversal_of_damage|Modulation_of_nucleotide_pools	ribonucleotide reductase M2 B (TP53 inducible)							195.0	202.0	200.0					8																	103236307		2203	4300	6503	SO:0001819	synonymous_variant	50484				deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr8:103236307A>G	AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.517T>C	8.37:g.103236307A>G						RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Silent_p.L121L|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	p.L173L	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000728)		5	761	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		173					B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Silent	SNP	ENST00000251810.3	37	c.517T>C	CCDS34932.1	.	.	.	.	.	.	.	.	.	.	A	9.642	1.139229	0.21205	.	.	ENSG00000048392	ENST00000522368	.	.	.	5.36	1.96	0.26148	.	0.063969	0.64402	D	0.000007	T	0.57475	0.2056	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51458	-0.8703	5	.	.	.	.	8.8499	0.35192	0.2811:0.0:0.7189:0.0	.	.	.	.	P	229	.	.	L	-	2	0	RRM2B	103305483	0.967000	0.33354	0.994000	0.49952	0.999000	0.98932	1.728000	0.38105	0.510000	0.28216	0.528000	0.53228	CTT		0.333	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3			66	82	0	0	0	0	66	82				
PKHD1L1	93035	broad.mit.edu	37	8	110461669	110461669	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:110461669T>A	ENST00000378402.5	+	40	6232	c.6128T>A	c.(6127-6129)cTt>cAt	p.L2043H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2043	IPT/TIG 13.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTGACAGGCTTAGATCTGAT	0.353										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(6127-6129)CTT>CAT		fibrocystin L precursor							66.0	64.0	65.0					8																	110461669		1830	4082	5912	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110461669T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6128T>A	8.37:g.110461669T>A	ENSP00000367655:p.Leu2043His	HNSCC(38;0.096)					p.L2043H	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		40	6232	+			2043			Extracellular (Potential).|IPT/TIG 13.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.6128T>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.693075	0.48202	.	.	ENSG00000205038	ENST00000378402	D	0.86432	-2.12	5.51	2.93	0.34026	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.554792	0.15080	N	0.281724	D	0.87803	0.6269	M	0.67953	2.075	0.09310	N	1	P	0.52061	0.95	P	0.54312	0.748	T	0.76460	-0.2951	10	0.14656	T	0.56	.	8.1829	0.31322	0.4522:0.0:0.0:0.5478	.	2043	Q86WI1	PKHL1_HUMAN	H	2043	ENSP00000367655:L2043H	ENSP00000367655:L2043H	L	+	2	0	PKHD1L1	110530845	0.706000	0.27856	0.002000	0.10522	0.745000	0.42441	2.420000	0.44679	0.890000	0.36211	0.482000	0.46254	CTT		0.353	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		5	5	0	0	0	0	5	5				
COL14A1	7373	broad.mit.edu	37	8	121256222	121256222	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr8:121256222C>T	ENST00000297848.3	+	20	2724	c.2454C>T	c.(2452-2454)gtC>gtT	p.V818V	COL14A1_ENST00000247781.3_Silent_p.V723V|COL14A1_ENST00000309791.4_Silent_p.V818V|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCGAAGGCGTCAGCGTCTCCG	0.498																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2452-2454)GTC>GTT		collagen, type XIV, alpha 1 precursor							128.0	129.0	129.0					8																	121256222		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121256222C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2454C>T	8.37:g.121256222C>T						COL14A1_uc003yoy.2_Silent_p.V496V	p.V818V	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		20	2719	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		818			Fibronectin type-III 6.			Silent	SNP	ENST00000297848.3	37	c.2454C>T	CCDS34938.1																																																																																				0.498	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		15	153	0	0	0	0	15	153				
DOCK8	81704	broad.mit.edu	37	9	289552	289552	+	Silent	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:289552C>T	ENST00000453981.1	+	4	487	c.375C>T	c.(373-375)taC>taT	p.Y125Y	DOCK8_ENST00000432829.2_Silent_p.Y57Y|DOCK8_ENST00000469391.1_Silent_p.Y57Y			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	125					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTCAGACCTACATCCGTGAGT	0.333																																						uc003zgf.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(373-375)TAC>TAT		dedicator of cytokinesis 8							200.0	193.0	195.0					9																	289552		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:289552C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.375C>T	9.37:g.289552C>T						DOCK8_uc011lls.1_Silent_p.Y125Y|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.Y57Y|DOCK8_uc010mgt.2_Silent_p.Y57Y|DOCK8_uc003zgg.2_Silent_p.Y57Y|DOCK8_uc003zgh.2_RNA	p.Y125Y	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	4	487	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	125					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.375C>T	CCDS6440.2																																																																																				0.333	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		9	47	0	0	0	0	9	47				
SYK	6850	broad.mit.edu	37	9	93650843	93650843	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:93650843G>A	ENST00000375754.4	+	13	1917	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q	SYK_ENST00000375746.1_Missense_Mutation_p.R590Q|SYK_ENST00000375747.1_Missense_Mutation_p.R567Q|SYK_ENST00000375751.4_Missense_Mutation_p.R567Q	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	590	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AAAGGAGAGCGGATGGGGTGC	0.438			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	uc004aqz.2		NA		Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	ETV6|ITK		MDS|peripheral T-cell lymphoma		0				lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(1768-1770)CGG>CAG		spleen tyrosine kinase isoform 1							108.0	92.0	97.0					9																	93650843		2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93650843G>A	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1769G>A	9.37:g.93650843G>A	ENSP00000364907:p.Arg590Gln					SYK_uc004ara.2_Missense_Mutation_p.R567Q|SYK_uc004arb.2_Missense_Mutation_p.R567Q|SYK_uc004arc.2_Missense_Mutation_p.R590Q|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	p.R590Q	NM_003177	NP_003168	P43405	KSYK_HUMAN			13	1974	+			590			Protein kinase.			Missense_Mutation	SNP	ENST00000375754.4	37	c.1769G>A	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154587	0.78114	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.22	4.33	0.51752	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93271	0.7856	M	0.89840	3.065	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94417	0.7637	10	0.87932	D	0	.	14.0458	0.64704	0.073:0.0:0.927:0.0	.	567;590	P43405-2;P43405	.;KSYK_HUMAN	Q	590;567;567;590	ENSP00000364907:R590Q;ENSP00000364904:R567Q;ENSP00000364899:R567Q;ENSP00000364898:R590Q	ENSP00000364898:R590Q	R	+	2	0	SYK	92690664	1.000000	0.71417	0.999000	0.59377	0.299000	0.27559	9.249000	0.95470	1.322000	0.45245	0.557000	0.71058	CGG		0.438	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			6	16	0	0	0	0	6	16				
NCBP1	4686	broad.mit.edu	37	9	100403139	100403139	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:100403139C>G	ENST00000375147.3	+	2	354	c.98C>G	c.(97-99)tCt>tGt	p.S33C		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	33	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)	p.S33F(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CATTTGGAATCTTTAATATGT	0.358																																					Ovarian(36;879 898 2893 44212 50307)	uc004axq.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(1)	1						c.(97-99)TCT>TGT		nuclear cap binding protein subunit 1, 80kDa							80.0	83.0	82.0					9																	100403139		2203	4300	6503	SO:0001583	missense	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100403139C>G	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.98C>G	9.37:g.100403139C>G	ENSP00000364289:p.Ser33Cys						p.S33C	NM_002486	NP_002477	Q09161	NCBP1_HUMAN			2	557	+		Acute lymphoblastic leukemia(62;0.158)	33			MIF4G.		B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	c.98C>G	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556069	0.86231	.	.	ENSG00000136937	ENST00000375147	T	0.26067	1.76	5.13	5.13	0.70059	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.64402	-0.6416	10	0.59425	D	0.04	-19.3725	18.5603	0.91097	0.0:1.0:0.0:0.0	.	33	Q09161	NCBP1_HUMAN	C	33	ENSP00000364289:S33C	ENSP00000364289:S33C	S	+	2	0	NCBP1	99442960	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.203000	0.65174	2.573000	0.86826	0.555000	0.69702	TCT		0.358	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		28	51	0	0	0	0	28	51				
OR1J2	26740	broad.mit.edu	37	9	125273891	125273891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:125273891G>A	ENST00000335302.5	+	1	811	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TATTGACAAGGATGTCATTGT	0.473																																						uc004bmj.1		NA																	0				skin(3)|pancreas(1)|breast(1)	5						c.(811-813)GAT>AAT		olfactory receptor, family 1, subfamily J,							201.0	180.0	187.0					9																	125273891		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273891G>A		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.811G>A	9.37:g.125273891G>A	ENSP00000335575:p.Asp271Asn					OR1J2_uc011lyv.1_Missense_Mutation_p.D271N	p.D271N	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN			4	1666	+			271			Extracellular (Potential).		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.811G>A	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807046	0.50421	.	.	ENSG00000197233	ENST00000335302	T	0.00216	8.53	5.14	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.352416	0.20143	U	0.098330	T	0.00210	0.0006	M	0.62209	1.925	0.09310	N	1	B	0.14438	0.01	B	0.23150	0.044	T	0.28870	-1.0030	10	0.41790	T	0.15	.	9.6476	0.39877	0.1673:0.0:0.8327:0.0	.	271	Q8NGS2	OR1J2_HUMAN	N	271	ENSP00000335575:D271N	ENSP00000335575:D271N	D	+	1	0	OR1J2	124313712	0.000000	0.05858	0.170000	0.22879	0.670000	0.39368	0.841000	0.27613	1.435000	0.47434	0.632000	0.83419	GAT		0.473	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			62	126	0	0	0	0	62	126				
TTC16	158248	broad.mit.edu	37	9	130482360	130482360	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:130482360C>T	ENST00000373289.3	+	5	510	c.430C>T	c.(430-432)Caa>Taa	p.Q144*	PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	144										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TCCCCAGGGACAATGCCTTTT	0.577																																						uc004brq.1		NA																	0					0						c.(430-432)CAA>TAA		tetratricopeptide repeat domain 16							175.0	133.0	147.0					9																	130482360		2203	4300	6503	SO:0001587	stop_gained	158248						binding	g.chr9:130482360C>T	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.430C>T	9.37:g.130482360C>T	ENSP00000362386:p.Gln144*					PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Nonsense_Mutation_p.Q131*|TTC16_uc004brr.1_Nonsense_Mutation_p.Q89*|TTC16_uc010mxn.1_5'Flank	p.Q144*	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN			5	497	+			144			TPR 3.		B4DYG4|B5ME24|Q5JU66|Q96M72	Nonsense_Mutation	SNP	ENST00000373289.3	37	c.430C>T	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935263	0.92458	.	.	ENSG00000167094	ENST00000373289;ENST00000316259	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-33.6116	16.6761	0.85279	0.0:1.0:0.0:0.0	.	.	.	.	X	144;89	.	ENSP00000319048:Q89X	Q	+	1	0	TTC16	129522181	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	3.826000	0.55738	2.529000	0.85273	0.195000	0.17529	CAA		0.577	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		45	51	0	0	0	0	45	51				
SEC16A	9919	broad.mit.edu	37	9	139366454	139366454	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:139366454C>T	ENST00000371706.3	-	2	3176	c.3143G>A	c.(3142-3144)aGc>aAc	p.S1048N	SEC16A_ENST00000313050.7_Missense_Mutation_p.S1226N|SEC16A_ENST00000431893.2_Missense_Mutation_p.S1048N|SEC16A_ENST00000290037.6_Missense_Mutation_p.S1048N			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1048	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CGAGGAGTGGCTGGCTCGGGA	0.637																																						uc004chx.2		NA																	0					0						c.(3676-3678)AGC>AAC		SEC16 homolog A							32.0	42.0	39.0					9																	139366454		1966	4126	6092	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139366454C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3143G>A	9.37:g.139366454C>T	ENSP00000360771:p.Ser1048Asn					SEC16A_uc004chv.3_Missense_Mutation_p.S616N|SEC16A_uc004chw.2_Missense_Mutation_p.S1226N|SEC16A_uc010nbn.2_Missense_Mutation_p.S1226N	p.S1226N	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	4	3986	-		Myeloproliferative disorder(178;0.0511)	1048			Required for endoplasmic reticulum localization.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.3677G>A		.	.	.	.	.	.	.	.	.	.	C	23.2	4.391406	0.83011	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	T;T;T;T	0.42900	0.98;0.99;0.96;0.96	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.63803	0.2542	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.996;0.993	D;D;D;D	0.83275	0.996;0.995;0.986;0.968	T	0.65545	-0.6142	10	0.49607	T	0.09	-20.1878	16.7041	0.85367	0.0:1.0:0.0:0.0	.	1226;1048;1048;616	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	N	1226;1048;1048;1048;616;150	ENSP00000325827:S1226N;ENSP00000360771:S1048N;ENSP00000290037:S1048N;ENSP00000387583:S1048N	ENSP00000290037:S1048N	S	-	2	0	SEC16A	138486275	1.000000	0.71417	0.911000	0.35937	0.575000	0.36095	6.247000	0.72411	2.510000	0.84645	0.561000	0.74099	AGC		0.637	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		33	37	0	0	0	0	33	37				
ENTPD8	377841	broad.mit.edu	37	9	140330690	140330690	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:140330690G>A	ENST00000472938.1	-	6	841	c.825C>T	c.(823-825)ctC>ctT	p.L275L	ENTPD8_ENST00000371506.2_Silent_p.L275L|ENTPD8_ENST00000344119.2_Silent_p.L275L			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	275					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGTAGCCGCTGAGGTAGCACG	0.706																																						uc004cmw.2		NA																	0				skin(1)	1						c.(823-825)CTC>CTT		ectonucleoside triphosphate diphosphohydrolase 8							24.0	26.0	25.0					9																	140330690		2196	4291	6487	SO:0001819	synonymous_variant	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140330690G>A	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.825C>T	9.37:g.140330690G>A						C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Silent_p.L275L	p.L275L	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	7	1009	-	all_cancers(76;0.0926)		275			Extracellular (Potential).		A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.825C>T	CCDS43913.1																																																																																				0.706	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		12	32	0	0	0	0	12	32				
NR0B1	190	broad.mit.edu	37	X	30327172	30327172	+	Silent	SNP	C	C	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:30327172C>A	ENST00000378970.4	-	1	543	c.309G>T	c.(307-309)ccG>ccT	p.P103P	NR0B1_ENST00000453287.1_Silent_p.P103P|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	103	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	AGCCCCAGCACGGACCCAGCG	0.677											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dcf.3		NA																	0				ovary(1)|lung(1)	2						c.(307-309)CCG>CCT		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						24.0	26.0	25.0					X																	30327172		2192	4283	6475	SO:0001819	synonymous_variant	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30327172C>A	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.309G>T	X.37:g.30327172C>A			OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816		p.P103P	NM_000475	NP_000466	P51843	NR0B1_HUMAN			1	324	-			103			4 X 67 AA tandem repeats.|2.		Q96F69	Silent	SNP	ENST00000378970.4	37	c.309G>T	CCDS14223.1																																																																																				0.677	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		20	15	1	0	2.38e-13	2.7e-13	20	15				
DCAF12L1	139170	broad.mit.edu	37	X	125686264	125686264	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:125686264G>T	ENST00000371126.1	-	1	570	c.328C>A	c.(328-330)Cag>Aag	p.Q110K		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	110										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CACACCACCTGCCTGGAGTTC	0.637																																						uc004eul.2		NA																	0				skin(3)|ovary(1)	4						c.(328-330)CAG>AAG		DDB1 and CUL4 associated factor 12-like 1							107.0	82.0	90.0					X																	125686264		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125686264G>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.328C>A	X.37:g.125686264G>T	ENSP00000360167:p.Gln110Lys						p.Q110K	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	579	-			110					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.328C>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	g	18.19	3.569546	0.65765	.	.	ENSG00000198889	ENST00000371126	T	0.56776	0.44	3.61	1.73	0.24493	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.66781	0.2824	M	0.71581	2.175	0.27136	N	0.961785	D	0.63880	0.993	D	0.67548	0.952	T	0.57213	-0.7850	9	0.41790	T	0.15	.	10.6468	0.45626	0.0:0.3654:0.6346:0.0	.	110	Q5VU92	DC121_HUMAN	K	110	ENSP00000360167:Q110K	ENSP00000360167:Q110K	Q	-	1	0	DCAF12L1	125513945	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	8.489000	0.90461	0.330000	0.23485	0.498000	0.49722	CAG		0.637	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		36	17	1	0	4.66e-17	5.41e-17	36	17				
SMARCA1	6594	broad.mit.edu	37	X	128599869	128599869	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:128599869T>G	ENST00000371122.4	-	22	2898	c.2769A>C	c.(2767-2769)gaA>gaC	p.E923D	SMARCA1_ENST00000371123.1_Missense_Mutation_p.E911D|SMARCA1_ENST00000371121.3_Missense_Mutation_p.E911D	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	923					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GAATTCTTGCTTCTCCACGTT	0.333																																						uc004eun.3		NA																	0				ovary(3)|skin(1)	4						c.(2767-2769)GAA>GAC		SWI/SNF-related matrix-associated							174.0	150.0	158.0					X																	128599869		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128599869T>G	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2769A>C	X.37:g.128599869T>G	ENSP00000360163:p.Glu923Asp					SMARCA1_uc004eup.3_Missense_Mutation_p.E911D|SMARCA1_uc011muk.1_Missense_Mutation_p.E923D|SMARCA1_uc011mul.1_Missense_Mutation_p.E911D	p.E923D	NM_003069	NP_003060	P28370	SMCA1_HUMAN			22	2882	-			923					Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.2769A>C	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.683321	0.68157	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.08	5.73	3.34	0.38264	SLIDE (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000003	D	0.96531	0.8868	H	0.94886	3.595	0.46701	D	0.999169	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	D	0.95042	0.8179	10	0.87932	D	0	-17.6391	8.4955	0.33125	0.0:0.2439:0.0:0.7561	.	902;923;911;923	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	D	911;911;923;902	ENSP00000360162:E911D;ENSP00000360164:E911D;ENSP00000360163:E923D;ENSP00000404275:E902D	ENSP00000360162:E911D	E	-	3	2	SMARCA1	128427550	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.026000	0.30103	0.291000	0.22468	0.486000	0.48141	GAA		0.333	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		29	21	0	0	0	0	29	21				
GPC4	2239	broad.mit.edu	37	X	132438794	132438794	+	Silent	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:132438794G>A	ENST00000370828.3	-	7	1775	c.1251C>T	c.(1249-1251)aaC>aaT	p.N417N	GPC4_ENST00000535467.1_Silent_p.N347N	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	417					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CCTCATTGCCGTTTCCTGCAG	0.468																																						uc004exc.1		NA																	0					0						c.(1249-1251)AAC>AAT		glypican 4 precursor							319.0	233.0	262.0					X																	132438794		2203	4300	6503	SO:0001819	synonymous_variant	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132438794G>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1251C>T	X.37:g.132438794G>A						GPC4_uc011mvg.1_Silent_p.N347N	p.N417N	NM_001448	NP_001439	O75487	GPC4_HUMAN			7	1463	-	Acute lymphoblastic leukemia(192;0.000127)		417					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Silent	SNP	ENST00000370828.3	37	c.1251C>T	CCDS14637.1																																																																																				0.468	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		74	35	0	0	0	0	74	35				
GABRA3	2556	broad.mit.edu	37	X	151336735	151336735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:151336735C>T	ENST00000370314.4	-	10	1682	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.E482K	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	482					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|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)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				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)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATAGCTGACTCCCGGTTGACA	0.498																																					NSCLC(142;2578 2613 10251 16743)	uc010ntk.1		NA																	0				ovary(1)	1						c.(1444-1446)GAG>AAG		gamma-aminobutyric acid A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						135.0	103.0	114.0					X																	151336735		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151336735C>T		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1444G>A	X.37:g.151336735C>T	ENSP00000359337:p.Glu482Lys						p.E482K	NM_000808	NP_000799	P34903	GBRA3_HUMAN			10	1684	-	Acute lymphoblastic leukemia(192;6.56e-05)		482					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.1444G>A	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233625	0.58886	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	T;T;T	0.71579	-0.58;-0.58;-0.58	4.84	4.84	0.62591	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.051049	0.85682	D	0.000000	T	0.60431	0.2268	L	0.28400	0.85	0.45307	D	0.998304	B	0.09022	0.002	B	0.08055	0.003	T	0.59606	-0.7423	10	0.59425	D	0.04	.	14.684	0.69037	0.0:1.0:0.0:0.0	.	482	P34903	GBRA3_HUMAN	K	482	ENSP00000359337:E482K;ENSP00000359334:E482K;ENSP00000443527:E482K	ENSP00000359334:E482K	E	-	1	0	GABRA3	151087391	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.789000	0.62446	2.139000	0.66308	0.540000	0.68198	GAG		0.498	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		35	13	0	0	0	0	35	13				
ATP2B3	492	broad.mit.edu	37	X	152825277	152825277	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chrX:152825277G>A	ENST00000349466.2	+	17	3042	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K	ATP2B3_ENST00000393842.1_Missense_Mutation_p.E892K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E906K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E906K|ATP2B3_ENST00000370186.1_Missense_Mutation_p.E892K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E892K|ATP2B3_ENST00000460549.1_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	906					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACCCACAGAGTCGCTGCT	0.597																																						uc004fht.1		NA																	0				pancreas(1)	1						c.(2716-2718)GAG>AAG		plasma membrane calcium ATPase 3 isoform 3b							77.0	66.0	69.0					X																	152825277		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152825277G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2716G>A	X.37:g.152825277G>A	ENSP00000343886:p.Glu906Lys					ATP2B3_uc004fhs.1_Missense_Mutation_p.E906K|ATP2B3_uc010nuf.1_5'Flank|ATP2B3_uc004fhu.1_5'Flank	p.E906K	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			16	2842	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		906			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.2716G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745230	0.89663	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.32	5.32	0.75619	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.89413	0.6708	M	0.62266	1.93	0.58432	D	0.999999	P;P	0.36483	0.555;0.5	B;B	0.41202	0.35;0.315	D	0.89864	0.4018	10	0.56958	D	0.05	-41.0823	16.7389	0.85454	0.0:0.0:1.0:0.0	.	906;906	Q16720;Q16720-2	AT2B3_HUMAN;.	K	892;906;892;906;906;892	ENSP00000359205:E892K;ENSP00000343886:E906K;ENSP00000377425:E892K;ENSP00000352062:E906K;ENSP00000263519:E906K;ENSP00000359200:E892K	ENSP00000263519:E906K	E	+	1	0	ATP2B3	152478471	1.000000	0.71417	0.304000	0.25085	0.524000	0.34500	9.776000	0.99001	2.212000	0.71576	0.529000	0.55759	GAG		0.597	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		35	11	0	0	0	0	35	11				
NIPA2	81614	broad.mit.edu	37	15	23006728	23006729	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr15:23006728_23006729insG	ENST00000337451.3	-	8	1187_1188	c.575_576insC	c.(574-576)tcafs	p.S192fs	NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.S192fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.S173fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.S192fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.S173fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	192						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CACAGGAGACTGAAAACGCGCC	0.52																																						uc001yux.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(574-576)TCAfs		non imprinted in Prader-Willi/Angelman syndrome																																				SO:0001589	frameshift_variant	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23006728_23006729insG	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.576dupC	15.37:g.23006729_23006729dupG	ENSP00000337618:p.Ser192fs					NIPA2_uc001yuy.2_Frame_Shift_Ins_p.S192fs|NIPA2_uc001yuz.2_Frame_Shift_Ins_p.S192fs|NIPA2_uc001yva.2_Frame_Shift_Ins_p.S173fs|NIPA2_uc001yvb.2_Frame_Shift_Ins_p.S192fs|NIPA2_uc010ayb.2_Frame_Shift_Ins_p.S173fs	p.S192fs	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	8	1188_1189	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	192			Helical; (Potential).		F8W7Y8|Q96F03|Q9BVS2	Frame_Shift_Ins	INS	ENST00000337451.3	37	c.575_576insC	CCDS10010.1																																																																																				0.520	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		27	64	NA	NA	NA	NA	27	64	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579356	7579359	+	Frame_Shift_Del	DEL	GACG	GACG	-	rs587781371|rs11540654|rs587780066	byFrequency	TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:7579356_7579359delGACG	ENST00000269305.4	-	4	517_520	c.328_331delCGTC	c.(328-333)cgtctgfs	p.RL110fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.RL110fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.RL110fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.RL110fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RL110fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.RL110fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654). {ECO:0000269|PubMed:17224074}.|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R110L(36)|p.R110fs*13(11)|p.R110P(9)|p.0?(8)|p.R110C(7)|p.G59fs*23(3)|p.R110H(2)|p.F109_R110delFR(2)|p.Y107fs*38(1)|p.R110fs*18(1)|p.R110fs*39(1)|p.L111fs*10(1)|p.V73fs*9(1)|p.Y107fs*44(1)|p.L111M(1)|p.S33fs*23(1)|p.R110S(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.Y103_L111>L(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAGAAGCCCAGACGGAAACCGTAG	0.613		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		92	Substitution - Missense(56)|Deletion - Frameshift(19)|Whole gene deletion(8)|Deletion - In frame(3)|Insertion - Frameshift(2)|Complex - deletion inframe(2)|Insertion - In frame(1)|Complex - frameshift(1)	p.R110L(24)|p.R110P(8)|p.0?(7)|p.R110fs*13(5)|p.R110C(4)|p.G59fs*23(3)|p.R110H(2)|p.F109_R110delFR(2)|p.Y107fs*38(1)|p.R110fs*18(1)|p.R110fs*39(1)|p.L111fs*10(1)|p.V73fs*9(1)|p.Y107fs*44(1)|p.L111M(1)|p.S33fs*23(1)|p.R110S(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.Y103_L111>L(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)	upper_aerodigestive_tract(15)|lung(15)|breast(15)|large_intestine(6)|liver(6)|urinary_tract(5)|oesophagus(4)|bone(4)|NS(3)|soft_tissue(3)|prostate(3)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|stomach(1)|salivary_gland(1)|pancreas(1)|autonomic_ganglia(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM984590	TP53	M	rs11540654	c.(328-333)CGTCTGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579356_7579359delGACG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.328_331delCGTC	17.37:g.7579356_7579359delGACG	ENSP00000269305:p.Arg110fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.R110fs|TP53_uc002gih.2_Frame_Shift_Del_p.R110fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.R110fs|TP53_uc010cni.1_Frame_Shift_Del_p.R110fs|TP53_uc002gij.2_Frame_Shift_Del_p.R110fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.R71fs|TP53_uc010cnk.1_Frame_Shift_Del_p.R125fs	p.R110fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	522_525	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	110_111		L -> Q (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> M (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.328_331delCGTC	CCDS11118.1																																																																																				0.613	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		47	34	NA	NA	NA	NA	47	34	---	---	---	---
LIMD2	80774	broad.mit.edu	37	17	61776623	61776623	+	Frame_Shift_Del	DEL	G	G	-	rs559592229		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr17:61776623delG	ENST00000259006.3	-	2	194	c.36delC	c.(34-36)cccfs	p.P12fs	LIMD2_ENST00000578402.1_Frame_Shift_Del_p.P12fs|LIMD2_ENST00000578061.1_Frame_Shift_Del_p.P12fs|LIMD2_ENST00000578993.1_Frame_Shift_Del_p.P12fs|LIMD2_ENST00000582055.1_5'Flank|LIMD2_ENST00000583211.1_5'UTR	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	12							zinc ion binding (GO:0008270)			kidney(1)|lung(2)	3						TTACATGAGAGGGGGTGGCCT	0.682																																						uc002jbj.3		NA																	0					0						c.(34-36)CCCfs		LIM domain containing 2							11.0	14.0	13.0					17																	61776623		2176	4259	6435	SO:0001589	frameshift_variant	80774						zinc ion binding	g.chr17:61776623delG	AK092301	CCDS11641.1	17q23.3	2006-02-03				ENSG00000136490			28142	protein-coding gene	gene with protein product						12477932	Standard	NM_030576		Approved	MGC10986	uc002jbj.4	Q9BT23		ENST00000259006.3:c.36delC	17.37:g.61776623delG	ENSP00000259006:p.Pro12fs					LIMD2_uc002jbk.3_5'UTR|LIMD2_uc002jbl.3_Frame_Shift_Del_p.P12fs	p.P12fs	NM_030576	NP_085053	Q9BT23	LIMD2_HUMAN			2	214	-			12					D3DU16|Q96S91	Frame_Shift_Del	DEL	ENST00000259006.3	37	c.36delC	CCDS11641.1																																																																																				0.682	LIMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443877.1	NM_030576		12	29	NA	NA	NA	NA	12	29	---	---	---	---
LENG9	94059	broad.mit.edu	37	19	54973750	54973750	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr19:54973750delT	ENST00000333834.4	-	1	1144	c.1026delA	c.(1024-1026)gaafs	p.E342fs		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	342							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGACCAGGTATTCCTGGGCCT	0.632																																						uc010yez.1		NA																	0					0						c.(1024-1026)GAAfs		leukocyte receptor cluster (LRC) member 9							70.0	63.0	65.0					19																	54973750		2203	4300	6503	SO:0001589	frameshift_variant	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54973750delT	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.1026delA	19.37:g.54973750delT	ENSP00000331647:p.Glu342fs						p.E342fs	NM_198988	NP_945339	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	1145	-	Ovarian(34;0.19)		342					B2VAM3	Frame_Shift_Del	DEL	ENST00000333834.4	37	c.1026delA	CCDS12895.2																																																																																				0.632	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		40	60	NA	NA	NA	NA	40	60	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58444989	58444990	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr20:58444989_58444990insT	ENST00000357552.3	-	36	3829_3830	c.3604_3605insA	c.(3604-3606)atafs	p.I1202fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1202fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1202					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CAGAGAACTTATTTTTTTTCTA	0.312																																						uc002yaz.2		NA																	0				ovary(3)|lung(2)	5						c.(3604-3606)ATAfs		synaptonemal complex protein 2																																				SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58444989_58444990insT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3605dupA	20.37:g.58444997_58444997dupT	ENSP00000350162:p.Ile1202fs						p.I1202fs	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		35	3743_3744	-	all_lung(29;0.00344)		1202					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Ins	INS	ENST00000357552.3	37	c.3604_3605insA	CCDS13482.1																																																																																				0.312	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		8	37	NA	NA	NA	NA	8	37	---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25665146	25665146	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr3:25665146delT	ENST00000264331.4	-	21	2586	c.2587delA	c.(2587-2589)attfs	p.I863fs	TOP2B_ENST00000435706.2_Frame_Shift_Del_p.I858fs	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	863					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	ATTATAGGAATATACCACTCA	0.398																																						uc011awn.1		NA																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(2587-2589)ATTfs		DNA topoisomerase II, beta isozyme							95.0	87.0	89.0					3																	25665146		1876	4104	5980	SO:0001589	frameshift_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25665146delT	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.2587delA	3.37:g.25665146delT	ENSP00000264331:p.Ile863fs					TOP2B_uc003cdj.2_Frame_Shift_Del_p.I858fs	p.I863fs	NM_001068	NP_001059	Q02880	TOP2B_HUMAN			21	2630	-			863					Q13600|Q9UMG8|Q9UQP8	Frame_Shift_Del	DEL	ENST00000264331.4	37	c.2587delA																																																																																					0.398	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				12	18	NA	NA	NA	NA	12	18	---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126144077	126144077	+	Frame_Shift_Del	DEL	G	G	-	rs566013139		TCGA-CV-6956-01A-21D-2012-08	TCGA-CV-6956-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9ccee056-124e-40d5-a07d-c208765d8640	d28213c6-eb6f-4348-aca4-6f384a3b6d71	g.chr9:126144077delG	ENST00000373624.2	-	22	2865	c.2664delC	c.(2662-2664)tccfs	p.S888fs	DENND1A_ENST00000542603.1_Frame_Shift_Del_p.S673fs|DENND1A_ENST00000394219.3_Frame_Shift_Del_p.S899fs|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	888	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGGAGAGGGCGGAGAGGTTGG	0.682																																						uc004bnz.1		NA																	0				ovary(2)	2						c.(2662-2664)TCCfs		DENN/MADD domain containing 1A isoform 1							7.0	7.0	7.0					9																	126144077		2068	4090	6158	SO:0001589	frameshift_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126144077delG	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2664delC	9.37:g.126144077delG	ENSP00000362727:p.Ser888fs					DENND1A_uc011lzl.1_Frame_Shift_Del_p.S706fs|DENND1A_uc004bny.1_Frame_Shift_Del_p.S670fs|DENND1A_uc011lzm.1_Frame_Shift_Del_p.S899fs|DENND1A_uc010mwh.1_Frame_Shift_Del_p.S309fs	p.S888fs	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			22	2897	-			888			Pro-rich.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Frame_Shift_Del	DEL	ENST00000373624.2	37	c.2664delC	CCDS35133.1																																																																																				0.682	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		2	4	NA	NA	NA	NA	2	4	---	---	---	---
