#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZNF496	84838	broad.mit.edu	37	1	247464555	247464555	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr1:247464555C>A	ENST00000294753.4	-	9	1494	c.1030G>T	c.(1030-1032)Gag>Tag	p.E344*	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Nonsense_Mutation_p.E380*	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	344					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E344Q(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			AGGCTGTTCTCTAGAGATCGC	0.612																																						ENST00000294753.4																			1	Substitution - Missense(1)	p.E344Q(1)	ovary(1)	NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1030-1032)Gag>Tag		zinc finger protein 496							65.0	73.0	70.0					1																	247464555		2134	4193	6327	SO:0001587	stop_gained	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247464555C>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1030G>T	1.37:g.247464555C>A	ENSP00000294753:p.Glu344*					ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Nonsense_Mutation_p.E380*	p.E344*	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	1494	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		344					Q8TBS2	Nonsense_Mutation	SNP	ENST00000294753.4	37	c.1030G>T	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	37	6.233613	0.97399	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	.	.	.	4.28	-0.344	0.12628	.	0.793754	0.11089	N	0.601000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-11.767	8.1634	0.31211	0.0:0.4532:0.4491:0.0977	.	.	.	.	X	344;380	.	ENSP00000294753:E344X	E	-	1	0	ZNF496	245531178	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.092000	0.11129	0.135000	0.18707	-0.165000	0.13383	GAG		0.612	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		6	130	1	0	8.12818e-05	1	8.12818e-05	6	130				
GTF3C1	2975	broad.mit.edu	37	16	27518206	27518206	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr16:27518206C>T	ENST00000356183.4	-	9	1529	c.1514G>A	c.(1513-1515)cGg>cAg	p.R505Q	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R505Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	505					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGTCTTGGGCCGGAGGTTTGC	0.622																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(1513-1515)cGg>cAg		general transcription factor IIIC, polypeptide 1, alpha 220kDa							97.0	78.0	84.0					16																	27518206		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27518206C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1514G>A	16.37:g.27518206C>T	ENSP00000348510:p.Arg505Gln					GTF3C1_ENST00000561623.1_Missense_Mutation_p.R505Q	p.R505Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			9	1529	-			505					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.1514G>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	8.382	0.837825	0.16891	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.21734	1.99	4.42	3.45	0.39498	.	1.172500	0.06032	N	0.653241	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	B;B	0.17268	0.012;0.021	B;B	0.04013	0.001;0.001	T	0.20371	-1.0277	10	0.12430	T	0.62	.	7.59	0.28015	0.0:0.8075:0.0:0.1925	.	505;505	Q12789;Q12789-3	TF3C1_HUMAN;.	Q	505;503	ENSP00000348510:R505Q	ENSP00000348510:R505Q	R	-	2	0	GTF3C1	27425707	0.000000	0.05858	0.008000	0.14137	0.002000	0.02628	0.376000	0.20535	2.020000	0.59435	0.650000	0.86243	CGG		0.622	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		3	28	0	0	0	1	0	3	28				
HELZ2	85441	broad.mit.edu	37	20	62196246	62196246	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr20:62196246G>A	ENST00000467148.1	-	8	3998	c.3929C>T	c.(3928-3930)cCg>cTg	p.P1310L	HELZ2_ENST00000427522.2_Missense_Mutation_p.P741L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1310					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTGGTCCGACGGGGGCACCCT	0.672																																						ENST00000467148.1																			0											c.(3928-3930)cCg>cTg		helicase with zinc finger 2, transcriptional coactivator							31.0	34.0	33.0					20																	62196246		2200	4299	6499	SO:0001583	missense	85441							g.chr20:62196246G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3929C>T	20.37:g.62196246G>A	ENSP00000417401:p.Pro1310Leu					HELZ2_ENST00000427522.2_Missense_Mutation_p.P741L	p.P1310L	NM_001037335.2	NP_001032412.2					8	3998	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.3929C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	4.371	0.068328	0.08436	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.27256	1.68;1.68	4.66	-0.276	0.12902	.	3.096240	0.00797	N	0.001399	T	0.09555	0.0235	N	0.03608	-0.345	0.09310	N	1	B;B	0.18968	0.009;0.032	B;B	0.04013	0.0;0.001	T	0.19031	-1.0318	10	0.10902	T	0.67	-0.3931	1.3126	0.02101	0.1779:0.2182:0.3678:0.2361	.	1310;741	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	L	741;1310	ENSP00000393257:P741L;ENSP00000417401:P1310L	ENSP00000393257:P741L	P	-	2	0	RP4-697K14.7	61666690	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.201000	0.09464	0.395000	0.25257	0.436000	0.28706	CCG		0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		7	72	0	0	0	1	0	7	72				
LPIN2	9663	broad.mit.edu	37	18	2921574	2921574	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr18:2921574G>A	ENST00000261596.4	-	18	2637	c.2399C>T	c.(2398-2400)cCg>cTg	p.P800L	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	800	C-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTGCTTAGACGGGGCAAACAG	0.403																																						ENST00000261596.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29						c.(2398-2400)cCg>cTg		lipin 2							124.0	122.0	123.0					18																	2921574		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2921574G>A	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2399C>T	18.37:g.2921574G>A	ENSP00000261596:p.Pro800Leu						p.P800L	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	18	2637	-			800			C-LIP.		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.2399C>T	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620831	0.87460	.	.	ENSG00000101577	ENST00000261596	T	0.76316	-1.01	5.56	5.56	0.83823	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.102971	0.64402	D	0.000002	D	0.87249	0.6130	M	0.78344	2.41	0.80722	D	1	D	0.67145	0.996	P	0.60789	0.879	D	0.86797	0.1989	10	0.45353	T	0.12	.	19.5275	0.95212	0.0:0.0:1.0:0.0	.	800	Q92539	LPIN2_HUMAN	L	800	ENSP00000261596:P800L	ENSP00000261596:P800L	P	-	2	0	LPIN2	2911574	1.000000	0.71417	0.920000	0.36463	0.992000	0.81027	7.519000	0.81809	2.616000	0.88540	0.563000	0.77884	CCG		0.403	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		9	94	0	0	0	1	0	9	94				
NUDT2	318	broad.mit.edu	37	9	34343282	34343282	+	Silent	SNP	G	G	A			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr9:34343282G>A	ENST00000379158.2	+	5	646	c.288G>A	c.(286-288)gcG>gcA	p.A96A	NUDT2_ENST00000379155.5_Silent_p.A96A|NUDT2_ENST00000346365.4_Silent_p.A96A	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	96	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				apoptotic process (GO:0006915)|nucleobase-containing compound metabolic process (GO:0006139)	mitochondrion (GO:0005739)	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity (GO:0004081)|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity (GO:0008803)|GTP binding (GO:0005525)			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ACTGGCTGGCGGAGGTGAAGG	0.552																																					Melanoma(95;1683 1957 4276 39813)	ENST00000379158.2																			0				lung(3)	3						c.(286-288)gcG>gcA		nudix (nucleoside diphosphate linked moiety X)-type motif 2							103.0	92.0	96.0					9																	34343282		2203	4300	6503	SO:0001819	synonymous_variant	318				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding	g.chr9:34343282G>A	U30313	CCDS6552.1	9p13	2008-07-21			ENSG00000164978	ENSG00000164978		"""Nudix motif containing"""	8049	protein-coding gene	gene with protein product	"""Ap4A hydrolase 1"", ""Ap4Aase"", ""bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)"", ""diadenosine tetraphosphatase"", ""diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase"""	602852		APAH1		7487923, 9479504	Standard	NM_001161		Approved		uc022bga.1	P50583	OTTHUMG00000019817	ENST00000379158.2:c.288G>A	9.37:g.34343282G>A						NUDT2_ENST00000346365.4_Silent_p.A96A|NUDT2_ENST00000379155.5_Silent_p.A96A	p.A96A	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	5	646	+			96			Nudix hydrolase.		D3DRM0|Q5T589	Silent	SNP	ENST00000379158.2	37	c.288G>A	CCDS6552.1																																																																																				0.552	NUDT2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052160.2	NM_001161		5	154	0	0	0	1	0	5	154				
TNFAIP8	25816	broad.mit.edu	37	5	118728831	118728831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr5:118728831C>T	ENST00000503646.1	+	3	1040	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	TNFAIP8_ENST00000504642.1_Nonsense_Mutation_p.Q120*|TNFAIP8_ENST00000513374.1_Nonsense_Mutation_p.Q130*|TNFAIP8_ENST00000274456.6_Nonsense_Mutation_p.Q108*|TNFAIP8_ENST00000504771.2_Nonsense_Mutation_p.Q118*|TNFAIP8_ENST00000415806.2_3'UTR			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	118					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		CAGTTTCCATCAGGTGGATTA	0.413																																						ENST00000504771.2																			0				ovary(1)	1						c.(352-354)Cag>Tag		tumor necrosis factor, alpha-induced protein 8							92.0	92.0	92.0					5																	118728831		1939	4165	6104	SO:0001587	stop_gained	25816				anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding	g.chr5:118728831C>T	AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.352C>T	5.37:g.118728831C>T	ENSP00000421848:p.Gln118*					TNFAIP8_ENST00000274456.6_Nonsense_Mutation_p.Q108*|TNFAIP8_ENST00000504642.1_Nonsense_Mutation_p.Q120*|TNFAIP8_ENST00000503646.1_Nonsense_Mutation_p.Q118*|TNFAIP8_ENST00000513374.1_Nonsense_Mutation_p.Q130*|TNFAIP8_ENST00000415806.2_3'UTR	p.Q118*	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)	2	2129	+		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)	118					B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Nonsense_Mutation	SNP	ENST00000503646.1	37	c.352C>T	CCDS47258.1	.	.	.	.	.	.	.	.	.	.	C	40	8.288762	0.98745	.	.	ENSG00000145779	ENST00000274456;ENST00000513374;ENST00000504771;ENST00000503646;ENST00000504642	.	.	.	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-9.4211	19.6495	0.95795	0.0:1.0:0.0:0.0	.	.	.	.	X	108;130;118;118;120	.	ENSP00000274456:Q108X	Q	+	1	0	TNFAIP8	118756730	1.000000	0.71417	0.975000	0.42487	0.961000	0.63080	3.970000	0.56824	2.748000	0.94277	0.655000	0.94253	CAG		0.413	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000371134.2	NM_014350		16	57	0	0	0	1	0	16	57				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			6	58	0	0	0	1	0	6	58				
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10558-10560)ggC>ggT		zinc finger homeobox 3							10.0	14.0	12.0					16																	72821615		1455	3158	4613	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821615G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10560C>T	16.37:g.72821615G>A						ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA	p.G3520G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11232	-		Ovarian(137;0.13)	3520			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10560C>T	CCDS10908.1																																																																																				0.706	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	48	0	0	0	1	0	4	48				
MTUS2	23281	broad.mit.edu	37	13	29608227	29608227	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr13:29608227C>A	ENST00000431530.3	+	2	2499	c.2441C>A	c.(2440-2442)aCa>aAa	p.T814K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	804	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGACCCATAACAACAGCCACC	0.493																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2440-2442)aCa>aAa		microtubule associated tumor suppressor candidate 2							97.0	101.0	100.0					13																	29608227		2118	4229	6347	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29608227C>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2441C>A	13.37:g.29608227C>A	ENSP00000392057:p.Thr814Lys						p.T814K	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			2	2499	+			804			Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2441C>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637268	0.67130	.	.	ENSG00000132938	ENST00000431530	T	0.12984	2.63	5.46	5.46	0.80206	.	0.850836	0.09998	N	0.728783	T	0.18467	0.0443	L	0.44542	1.39	0.80722	D	1	P	0.38504	0.634	B	0.39465	0.3	T	0.13229	-1.0517	9	.	.	.	.	18.2952	0.90143	0.0:1.0:0.0:0.0	.	804	Q5JR59	MTUS2_HUMAN	K	814	ENSP00000392057:T814K	.	T	+	2	0	MTUS2	28506227	0.048000	0.20356	0.005000	0.12908	0.586000	0.36452	3.660000	0.54496	2.543000	0.85770	0.655000	0.94253	ACA		0.493	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		7	68	1	0	5.18039e-06	1	5.36216e-06	7	68				
PADI1	29943	broad.mit.edu	37	1	17548859	17548859	+	Missense_Mutation	SNP	G	G	A	rs200141204		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr1:17548859G>A	ENST00000375471.4	+	2	259	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	56					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GTCTACAACCGCACACGTGTG	0.557																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(166-168)cGc>cAc		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)		HIS/ARG	0,4406		0,0,2203	131.0	121.0	124.0		167	2.9	0.0	1		124	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PADI1	NM_013358.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	56/664	17548859	1,13005	2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17548859G>A	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.167G>A	1.37:g.17548859G>A	ENSP00000364620:p.Arg56His						p.R56H	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	2	259	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	56					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.167G>A	CCDS178.1	.	.	.	.	.	.	.	.	.	.	g	5.535	0.283595	0.10458	0.0	1.16E-4	ENSG00000142623	ENST00000375471	T	0.08193	3.12	3.87	2.94	0.34122	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.179400	0.36665	U	0.002463	T	0.04724	0.0128	N	0.12182	0.205	0.18873	N	0.999989	P	0.52316	0.952	B	0.43783	0.431	T	0.39313	-0.9620	10	0.13470	T	0.59	-4.1982	9.4547	0.38747	0.0:0.7671:0.2329:0.0	.	56	Q9ULC6	PADI1_HUMAN	H	56	ENSP00000364620:R56H	ENSP00000364620:R56H	R	+	2	0	PADI1	17421446	0.008000	0.16893	0.001000	0.08648	0.058000	0.15608	1.378000	0.34328	0.742000	0.32697	0.306000	0.20318	CGC		0.557	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		6	153	0	0	0	1	0	6	153				
ZMPSTE24	10269	broad.mit.edu	37	1	40758218	40758218	+	Silent	SNP	A	A	G			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr1:40758218A>G	ENST00000372759.3	+	10	1470	c.1305A>G	c.(1303-1305)ttA>ttG	p.L435L		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	435					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ATTCTGCTTTAATCAAACTTA	0.393																																						ENST00000372759.3																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16						c.(1303-1305)ttA>ttG		zinc metallopeptidase STE24							106.0	110.0	109.0					1																	40758218		2203	4300	6503	SO:0001819	synonymous_variant	10269					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	g.chr1:40758218A>G	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.1305A>G	1.37:g.40758218A>G							p.L435L	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		10	1470	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	435					B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Silent	SNP	ENST00000372759.3	37	c.1305A>G	CCDS449.1																																																																																				0.393	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			16	121	0	0	0	1	0	16	121				
TTN	7273	broad.mit.edu	37	2	179399635	179399635	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr2:179399635G>A	ENST00000591111.1	-	308	97008	c.96784C>T	c.(96784-96786)Cgc>Tgc	p.R32262C	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R33903C|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31335C|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24963C|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24838C|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25030C			Q8WZ42	TITIN_HUMAN	titin	32262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			GTGTTAATGCGCTCAAATATG	0.343																																						ENST00000589042.1																			0				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						c.(101707-101709)Cgc>Tgc		titin							68.0	66.0	67.0					2																	179399635		1856	4100	5956	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399635G>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.96784C>T	2.37:g.179399635G>A	ENSP00000465570:p.Arg32262Cys					TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25030C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24963C|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24838C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31335C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32262C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA	p.R33903C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	101931	-			32262					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.101707C>T		.	.	.	.	.	.	.	.	.	.	G	14.82	2.648812	0.47362	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.95	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.73353	0.3576	L	0.52823	1.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74478	-0.3652	9	0.87932	D	0	.	11.7077	0.51607	0.0:0.0:0.6228:0.3772	.	24838;24963;25030;32262	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	31335;24838;25030;24963;24835	ENSP00000343764:R31335C;ENSP00000434586:R24838C;ENSP00000340554:R25030C;ENSP00000352154:R24963C	ENSP00000340554:R25030C	R	-	1	0	TTN	179107881	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.921000	0.63397	2.822000	0.97130	0.650000	0.86243	CGC		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	72	0	0	0	1	0	4	72				
ALPK3	57538	broad.mit.edu	37	15	85400343	85400343	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr15:85400343G>C	ENST00000258888.5	+	6	3147	c.2980G>C	c.(2980-2982)Ggt>Cgt	p.G994R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	994					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AACTGTGCTGGGTCCCCTGTC	0.592																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2980-2982)Ggt>Cgt		alpha-kinase 3							61.0	67.0	65.0					15																	85400343		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85400343G>C	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2980G>C	15.37:g.85400343G>C	ENSP00000258888:p.Gly994Arg						p.G994R	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3147	+			994					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.2980G>C	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663856	0.47572	.	.	ENSG00000136383	ENST00000258888	T	0.64991	-0.13	3.42	1.46	0.22682	.	1.382220	0.05205	U	0.505755	T	0.59404	0.2191	L	0.34521	1.04	0.09310	N	1	P	0.48162	0.906	P	0.49752	0.621	T	0.49263	-0.8958	10	0.66056	D	0.02	-2.3251	6.0019	0.19525	0.2677:0.0:0.7323:0.0	.	994	Q96L96	ALPK3_HUMAN	R	994	ENSP00000258888:G994R	ENSP00000258888:G994R	G	+	1	0	ALPK3	83201347	0.005000	0.15991	0.001000	0.08648	0.270000	0.26580	1.007000	0.29860	0.223000	0.20920	0.467000	0.42956	GGT		0.592	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		11	103	0	0	0	1	0	11	103				
KCNB2	9312	broad.mit.edu	37	8	73480479	73480479	+	Silent	SNP	C	C	A			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr8:73480479C>A	ENST00000523207.1	+	2	1098	c.510C>A	c.(508-510)acC>acA	p.T170T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	170					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TTGATAATACCTGCTGCCCTG	0.453																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(508-510)acC>acA		potassium voltage-gated channel, Shab-related subfamily, member 2							116.0	124.0	121.0					8																	73480479		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480479C>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.510C>A	8.37:g.73480479C>A							p.T170T	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1098	+	Breast(64;0.137)		170					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.510C>A	CCDS6209.1																																																																																				0.453	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		20	207	1	0	1.15919e-05	1	1.17917e-05	20	207				
PCLO	27445	broad.mit.edu	37	7	82784965	82784965	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr7:82784965G>C	ENST00000333891.9	-	2	1329	c.992C>G	c.(991-993)cCc>cGc	p.P331R	PCLO_ENST00000423517.2_Missense_Mutation_p.P331R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGAGCTGGGGGCTTTGCAGG	0.567																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(991-993)cCc>cGc		piccolo presynaptic cytomatrix protein							48.0	46.0	47.0					7																	82784965		1932	4137	6069	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784965G>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.992C>G	7.37:g.82784965G>C	ENSP00000334319:p.Pro331Arg					PCLO_ENST00000333891.8_Missense_Mutation_p.P331R	p.P331R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	1329	-			314			Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.992C>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	3.716	-0.058623	0.07317	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18657	2.21;2.2	4.53	2.72	0.32119	.	.	.	.	.	T	0.20941	0.0504	L	0.58810	1.83	0.09310	N	0.999994	B;B	0.25667	0.078;0.131	B;B	0.27608	0.081;0.081	T	0.26780	-1.0093	9	0.87932	D	0	.	5.6277	0.17492	0.1667:0.0:0.6762:0.157	.	331;331	Q9Y6V0-5;Q9Y6V0-6	.;.	R	331	ENSP00000334319:P331R;ENSP00000388393:P331R	ENSP00000334319:P331R	P	-	2	0	PCLO	82622901	0.007000	0.16637	0.059000	0.19551	0.973000	0.67179	0.966000	0.29331	0.648000	0.30732	-0.136000	0.14681	CCC		0.567	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	41	0	0	0	1	0	4	41				
DNAH3	55567	broad.mit.edu	37	16	21145740	21145740	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr16:21145740G>A	ENST00000261383.3	-	7	921	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	DNAH3_ENST00000415178.1_Missense_Mutation_p.R308W	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	308	Stem. {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)|microtubule motor activity (GO:0003777)	p.R308W(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATAAAGAGCCGTTTTCTCTCC	0.507																																						ENST00000261383.3																			2	Substitution - Missense(2)	p.R308W(2)	breast(2)	NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(922-924)Cgg>Tgg		dynein, axonemal, heavy chain 3							79.0	76.0	77.0					16																	21145740		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21145740G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.922C>T	16.37:g.21145740G>A	ENSP00000261383:p.Arg308Trp					DNAH3_ENST00000415178.1_Missense_Mutation_p.R308W	p.R308W	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	7	921	-			308			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.922C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.498968	0.44455	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.27256	1.68;1.78	5.85	3.49	0.39957	.	0.062472	0.64402	D	0.000013	T	0.45955	0.1368	M	0.68317	2.08	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.34329	-0.9833	10	0.39692	T	0.17	.	11.7718	0.51962	0.0:0.0:0.2915:0.7085	.	308;279	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	W	308;308;279	ENSP00000261383:R308W;ENSP00000394245:R308W	ENSP00000261383:R308W	R	-	1	2	DNAH3	21053241	0.999000	0.42202	0.589000	0.28718	0.058000	0.15608	1.345000	0.33953	1.052000	0.40392	-0.262000	0.10625	CGG		0.507	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	120	0	0	0	1	0	4	120				
RNF123	63891	broad.mit.edu	37	3	49738118	49738118	+	Missense_Mutation	SNP	G	G	A	rs551937200		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr3:49738118G>A	ENST00000327697.6	+	15	1397	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	RNF123_ENST00000432042.1_Missense_Mutation_p.R272H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	418					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GAGAAGTCCCGCAAGTTTCTG	0.597																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1252-1254)cGc>cAc		ring finger protein 123							112.0	100.0	104.0					3																	49738118		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49738118G>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1253G>A	3.37:g.49738118G>A	ENSP00000328287:p.Arg418His					RNF123_ENST00000432042.1_Missense_Mutation_p.R272H	p.R418H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	15	1397	+			418					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.1253G>A	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302031	0.95601	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.79653	-1.03;-1.29	5.53	5.53	0.82687	.	0.152297	0.39985	N	0.001215	D	0.83533	0.5275	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.64410	0.925;0.719	D	0.84951	0.0871	10	0.56958	D	0.05	-21.9413	18.444	0.90677	0.0:0.0:1.0:0.0	.	272;418	C9J266;Q5XPI4	.;RN123_HUMAN	H	418;418;272	ENSP00000328287:R418H;ENSP00000392443:R272H	ENSP00000328287:R418H	R	+	2	0	RNF123	49713122	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.403000	0.97302	2.596000	0.87737	0.561000	0.74099	CGC		0.597	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		4	132	0	0	0	1	0	4	132				
YLPM1	56252	broad.mit.edu	37	14	75248427	75248427	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr14:75248427C>T	ENST00000552421.1	+	4	1805	c.1681C>T	c.(1681-1683)Ccc>Tcc	p.P561S	YLPM1_ENST00000325680.7_Missense_Mutation_p.P561S|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCTGGCATGCCCCCACCTGT	0.612																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(1681-1683)Ccc>Tcc		YLP motif containing 1							198.0	202.0	201.0					14																	75248427		2089	4195	6284	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248427C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1681C>T	14.37:g.75248427C>T	ENSP00000447921:p.Pro561Ser					YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Missense_Mutation_p.P561S	p.P561S	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	1805	+			363					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.1681C>T		.	.	.	.	.	.	.	.	.	.	C	15.59	2.877378	0.51801	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000423680	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	T	0.74107	0.3673	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.67090	-0.5758	8	0.20046	T	0.44	.	19.34	0.94337	0.0:1.0:0.0:0.0	.	561	P49750-4	.	S	561;561;274	.	ENSP00000324463:P561S	P	+	1	0	YLPM1	74318180	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.444000	0.60001	2.677000	0.91161	0.591000	0.81541	CCC		0.612	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		5	275	0	0	0	1	0	5	275				
CROCCP2	84809	broad.mit.edu	37	1	16959602	16959602	+	lincRNA	SNP	C	C	T	rs1807293	byFrequency	TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr1:16959602C>T	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)		p.A88A(2)									TCTGCAGTGACGCCTGCCTCA	0.602																																						ENST00000412962.1																			2	Substitution - coding silent(2)	p.A88A(2)	prostate(1)|endometrium(1)																																																84809							g.chr1:16959602C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959602C>T														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.602	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	37	0	0	0	1	0	5	37				
ANGPTL3	27329	broad.mit.edu	37	1	63069735	63069735	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr1:63069735C>T	ENST00000371129.3	+	6	1107	c.1027C>T	c.(1027-1029)Cat>Tat	p.H343Y	DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000404627.2_Intron|ANGPTL3_ENST00000493994.1_3'UTR|DOCK7_ENST00000251157.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	343	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						AGACAACAAACATTATATTGA	0.368																																						ENST00000371129.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(1027-1029)Cat>Tat		angiopoietin-like 3							87.0	92.0	90.0					1																	63069735		2203	4300	6503	SO:0001583	missense	27329				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity	g.chr1:63069735C>T	AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.1027C>T	1.37:g.63069735C>T	ENSP00000360170:p.His343Tyr					DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron|ANGPTL3_ENST00000493994.1_3'UTR|DOCK7_ENST00000251157.5_Intron	p.H343Y	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN			6	1107	+			343			Fibrinogen C-terminal.		A0JLS0|B1ALJ0|B2RCW1	Missense_Mutation	SNP	ENST00000371129.3	37	c.1027C>T	CCDS622.1	.	.	.	.	.	.	.	.	.	.	C	9.673	1.147123	0.21288	.	.	ENSG00000132855	ENST00000371129	T	0.75938	-0.98	5.38	-2.27	0.06846	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.461985	0.25732	N	0.028680	T	0.23649	0.0572	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.30736	-0.9968	10	0.45353	T	0.12	.	7.207	0.25913	0.1021:0.4853:0.0:0.4126	.	343	Q9Y5C1	ANGL3_HUMAN	Y	343	ENSP00000360170:H343Y	ENSP00000360170:H343Y	H	+	1	0	ANGPTL3	62842323	0.940000	0.31905	0.021000	0.16686	0.967000	0.64934	0.443000	0.21644	-0.830000	0.04262	-0.156000	0.13503	CAT		0.368	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495		10	239	0	0	0	1	0	10	239				
PPFIA4	8497	broad.mit.edu	37	1	203029424	203029424	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr1:203029424C>T	ENST00000447715.2	+	27	3038	c.2597C>T	c.(2596-2598)tCg>tTg	p.S866L	PPFIA4_ENST00000414050.2_Missense_Mutation_p.S595L|PPFIA4_ENST00000367240.2_Missense_Mutation_p.S867L|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S382L|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S382L|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S382L			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	866	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TCCGCTCTGTCGGACACAGAG	0.632																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2599-2601)tCg>tTg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							71.0	75.0	74.0					1																	203029424		2203	4300	6503	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203029424C>T	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2597C>T	1.37:g.203029424C>T	ENSP00000402576:p.Ser866Leu					PPFIA4_ENST00000447715.2_Missense_Mutation_p.S866L|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S595L|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S382L|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S382L|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S382L	p.S867L			O75335	LIPA4_HUMAN			21	3127	+			382					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.2600C>T		.	.	.	.	.	.	.	.	.	.	c	36	5.791168	0.96945	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.02	5.02	0.67125	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.39985	N	0.001201	T	0.72334	0.3447	M	0.82517	2.595	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;0.998;0.996;0.999;1.0	T	0.76982	-0.2757	10	0.87932	D	0	-10.2498	18.1672	0.89732	0.0:1.0:0.0:0.0	.	595;866;77;382;382	B4DIS5;B1N949;B3KN22;O75335-2;O75335	.;.;.;.;LIPA4_HUMAN	L	867;866;382;595;382	ENSP00000356209:S867L;ENSP00000402576:S866L;ENSP00000295706:S382L;ENSP00000400379:S595L;ENSP00000272198:S382L	ENSP00000272198:S382L	S	+	2	0	PPFIA4	201296047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.561000	0.82288	2.602000	0.87976	0.645000	0.84053	TCG		0.632	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		4	105	0	0	0	1	0	4	105				
KIAA1024	23251	broad.mit.edu	37	15	79755514	79755514	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr15:79755514C>T	ENST00000305428.3	+	3	2479	c.2404C>T	c.(2404-2406)Ctc>Ttc	p.L802F		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	802						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CCCTGCCTCCCTCAAGGCCCA	0.607																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(2404-2406)Ctc>Ttc		KIAA1024							118.0	99.0	106.0					15																	79755514		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79755514C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2404C>T	15.37:g.79755514C>T	ENSP00000307461:p.Leu802Phe						p.L802F	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			3	2479	+			802					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2404C>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539222	0.45176	.	.	ENSG00000169330	ENST00000305428	T	0.61392	0.11	4.98	4.05	0.47172	.	0.089324	0.47852	D	0.000209	T	0.65811	0.2727	L	0.50333	1.59	0.43114	D	0.99482	P	0.48998	0.918	P	0.57204	0.815	T	0.65026	-0.6268	9	.	.	.	.	15.3463	0.74340	0.0:0.8597:0.1403:0.0	.	802	Q9UPX6	K1024_HUMAN	F	802	ENSP00000307461:L802F	.	L	+	1	0	KIAA1024	77542569	1.000000	0.71417	0.985000	0.45067	0.275000	0.26752	3.176000	0.50863	1.062000	0.40625	0.561000	0.74099	CTC		0.607	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		5	102	0	0	0	1	0	5	102				
HKR1	284459	broad.mit.edu	37	19	37854409	37854409	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr19:37854409A>T	ENST00000324411.4	+	6	1981	c.1712A>T	c.(1711-1713)cAc>cTc	p.H571L	HKR1_ENST00000541583.2_Missense_Mutation_p.H510L|HKR1_ENST00000544914.1_Missense_Mutation_p.H298L|HKR1_ENST00000392153.3_Missense_Mutation_p.H552L|HKR1_ENST00000591471.1_Missense_Mutation_p.H298L|HKR1_ENST00000589392.1_Missense_Mutation_p.H553L|HKR1_ENST00000591134.1_Intron	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	571					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)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGTTTAGGCACAAGAGGGCA	0.522																																						ENST00000591471.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(892-894)cAc>cTc		HKR1, GLI-Kruppel zinc finger family member							54.0	51.0	52.0					19																	37854409		2203	4300	6503	SO:0001583	missense	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37854409A>T	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1712A>T	19.37:g.37854409A>T	ENSP00000315505:p.His571Leu					HKR1_ENST00000541583.2_Missense_Mutation_p.H510L|HKR1_ENST00000544914.1_Missense_Mutation_p.H298L|HKR1_ENST00000392153.3_Missense_Mutation_p.H552L|HKR1_ENST00000324411.4_Missense_Mutation_p.H571L|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000589392.1_Missense_Mutation_p.H553L	p.H298L			P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		9	2534	+			571					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	c.893A>T	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.443517	0.63067	.	.	ENSG00000181666	ENST00000544914;ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;D;D;D	0.96200	1.63;-3.94;-3.94;-3.94	2.58	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.98661	0.9551	H	0.99675	4.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.983;0.999;1.0;0.99	D	0.97722	1.0197	9	0.87932	D	0	.	10.3496	0.43927	1.0:0.0:0.0:0.0	.	510;552;571;553	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	L	298;350;552;607;571;510	ENSP00000437774:H298L;ENSP00000375994:H552L;ENSP00000315505:H571L;ENSP00000438261:H510L	ENSP00000315505:H571L	H	+	2	0	HKR1	42546249	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	5.294000	0.65687	1.433000	0.47394	0.529000	0.55759	CAC		0.522	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		12	53	0	0	0	1	0	12	53				
FLG	2312	broad.mit.edu	37	1	152284263	152284263	+	Silent	SNP	G	G	A			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr1:152284263G>A	ENST00000368799.1	-	3	3134	c.3099C>T	c.(3097-3099)caC>caT	p.H1033H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1033	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCGGGATCCGTGTCTTTCTC	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3097-3099)caC>caT		filaggrin							359.0	359.0	359.0					1																	152284263		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284263G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3099C>T	1.37:g.152284263G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.H1033H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3134	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1033			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.3099C>T	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	779	0	0	0	1	0	7	779				
TRPM7	54822	broad.mit.edu	37	15	50875314	50875314	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr15:50875314T>C	ENST00000313478.7	-	29	4810	c.4529A>G	c.(4528-4530)gAa>gGa	p.E1510G	TRPM7_ENST00000561443.1_5'Flank|TRPM7_ENST00000560955.1_Missense_Mutation_p.E1509G	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1510					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)		GGAATCTACTTCATGAGTGTC	0.274																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(4528-4530)gAa>gGa		transient receptor potential cation channel, subfamily M, member 7							62.0	60.0	61.0					15																	50875314		1783	4053	5836	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50875314T>C	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.4529A>G	15.37:g.50875314T>C	ENSP00000320239:p.Glu1510Gly					TRPM7_ENST00000560955.1_Missense_Mutation_p.E1509G	p.E1510G	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	29	4810	-			1510					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.4529A>G	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792780	0.50102	.	.	ENSG00000092439	ENST00000313478	T	0.54279	0.58	5.39	4.24	0.50183	.	0.774906	0.12406	N	0.471733	T	0.40694	0.1127	L	0.29908	0.895	0.31309	N	0.687412	B	0.10296	0.003	B	0.11329	0.006	T	0.39035	-0.9633	10	0.22109	T	0.4	-9.6834	11.526	0.50580	0.1344:0.0:0.0:0.8656	.	1510	Q96QT4	TRPM7_HUMAN	G	1510	ENSP00000320239:E1510G	ENSP00000320239:E1510G	E	-	2	0	TRPM7	48662606	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.722000	0.47269	0.841000	0.35020	0.402000	0.26972	GAA		0.274	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		4	59	0	0	0	1	0	4	59				
PRR5	55615	broad.mit.edu	37	22	45133065	45133065	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr22:45133065C>T	ENST00000336985.6	+	8	1382	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	PRR5_ENST00000403581.1_Missense_Mutation_p.R392W|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000006251.7_Missense_Mutation_p.R360W|PRR5-ARHGAP8_ENST00000352766.7_Intron	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	369					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		TGACTTTGGCCGGGGCCGGGG	0.632																																						ENST00000403581.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11						c.(1174-1176)Cgg>Tgg		proline rich 5 (renal)							34.0	41.0	38.0					22																	45133065		2200	4298	6498	SO:0001583	missense	55615							g.chr22:45133065C>T	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.1105C>T	22.37:g.45133065C>T	ENSP00000337464:p.Arg369Trp					PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000389773.5_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000336985.6_Missense_Mutation_p.R369W|PRR5_ENST00000477331.1_3'UTR	p.R392W	NM_001198721.1	NP_001185650.1				UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	10	1783	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)						B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000336985.6	37	c.1174C>T	CCDS14058.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941418	0.73557	.	.	ENSG00000186654	ENST00000006251;ENST00000404016;ENST00000403581;ENST00000336985	T;T;T	0.36878	1.25;1.23;1.25	5.82	4.78	0.61160	.	.	.	.	.	T	0.53498	0.1800	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	P;D;D;P;P	0.67231	0.732;0.913;0.95;0.732;0.893	T	0.52064	-0.8625	8	.	.	.	.	15.7234	0.77732	0.138:0.862:0.0:0.0	.	333;392;268;369;369	B1AHF5;B1AHF6;P85299-2;P85299;A8K699	.;.;.;PRR5_HUMAN;.	W	360;333;392;369	ENSP00000006251:R360W;ENSP00000384848:R392W;ENSP00000337464:R369W	.	R	+	1	2	PRR5	43511729	0.988000	0.35896	0.977000	0.42913	0.170000	0.22686	1.877000	0.39598	1.425000	0.47237	0.561000	0.74099	CGG		0.632	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		10	122	0	0	0	1	0	10	122				
INTS9	55756	broad.mit.edu	37	8	28625720	28625720	+	Silent	SNP	G	G	A	rs149143087		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr8:28625720G>A	ENST00000521022.1	-	17	2001	c.1920C>T	c.(1918-1920)gaC>gaT	p.D640D	INTS9_ENST00000521777.1_Silent_p.D616D|INTS9_ENST00000397363.4_Silent_p.D534D|INTS9_ENST00000416984.2_Silent_p.D619D	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	640					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TGAGCATCTCGTCATTGTCGC	0.532																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(1855-1857)gaC>gaT		integrator complex subunit 9		G	,,	1,4405	2.1+/-5.4	0,1,2202	267.0	252.0	257.0		1857,1848,1920	-5.0	0.9	8	dbSNP_134	257	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	INTS9	NM_001145159.2,NM_001172562.1,NM_018250.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	619/638,616/635,640/659	28625720	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28625720G>A	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1920C>T	8.37:g.28625720G>A						INTS9_ENST00000397363.4_Silent_p.D534D|INTS9_ENST00000521022.1_Silent_p.D640D|INTS9_ENST00000521777.1_Silent_p.D616D	p.D619D	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	16	2216	-		Ovarian(32;0.0439)	640					B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	ENST00000521022.1	37	c.1857C>T	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	G	9.390	1.075349	0.20227	2.27E-4	0.0	ENSG00000104299	ENST00000517383	.	.	.	5.11	-4.96	0.03038	.	.	.	.	.	T	0.65312	0.2679	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65928	-0.6049	4	.	.	.	-20.7468	16.184	0.81934	0.6602:0.0:0.3398:0.0	.	.	.	.	M	132	.	.	T	-	2	0	INTS9	28681639	0.090000	0.21635	0.889000	0.34880	0.994000	0.84299	-0.592000	0.05747	-1.059000	0.03193	-0.136000	0.14681	ACG		0.532	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		5	344	0	0	0	1	0	5	344				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|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	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	31	0	0	0	1	0	6	31				
KLHL6	89857	broad.mit.edu	37	3	183210454	183210454	+	Silent	SNP	G	G	A			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr3:183210454G>A	ENST00000341319.3	-	6	1427	c.1392C>T	c.(1390-1392)acC>acT	p.T464T		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	464					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCTTATGGCTGGTGGCTGCAA	0.542																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1390-1392)acC>acT		kelch-like family member 6							129.0	112.0	118.0					3																	183210454		2203	4300	6503	SO:0001819	synonymous_variant	89857							g.chr3:183210454G>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1392C>T	3.37:g.183210454G>A							p.T464T	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		6	1427	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		464					B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	c.1392C>T	CCDS3245.2																																																																																				0.542	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		9	81	0	0	0	1	0	9	81				
PLCL1	5334	broad.mit.edu	37	2	198949735	198949735	+	Silent	SNP	G	G	A	rs187827223		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr2:198949735G>A	ENST00000428675.1	+	2	1892	c.1494G>A	c.(1492-1494)ccG>ccA	p.P498P	PLCL1_ENST00000437704.2_Silent_p.P400P	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	498	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCTCCTTGCCGCAGCAGAAGG	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		21078	0.0		0.001	False		,,,				2504	0.0					ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1492-1494)ccG>ccA		phospholipase C-like 1	Quinacrine(DB01103)						65.0	64.0	64.0					2																	198949735		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949735G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1494G>A	2.37:g.198949735G>A						PLCL1_ENST00000437704.2_Silent_p.P400P	p.P498P	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	1892	+			498			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.1494G>A	CCDS2326.2																																																																																				0.418	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		4	52	0	0	0	1	0	4	52				
TRO	7216	broad.mit.edu	37	X	54957319	54957319	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chrX:54957319G>A	ENST00000173898.7	+	12	4274	c.4162G>A	c.(4162-4164)Ggt>Agt	p.G1388S	TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G991S|TRO_ENST00000420798.2_Missense_Mutation_p.G919S	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1388	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGGCTTCAGCGGTGGACCGAG	0.612																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(4162-4164)Ggt>Agt		trophinin							65.0	67.0	66.0					X																	54957319		2037	4184	6221	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54957319G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.4162G>A	X.37:g.54957319G>A	ENSP00000173898:p.Gly1388Ser					TRO_ENST00000375041.2_Missense_Mutation_p.G991S|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.G919S	p.G1388S	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	4274	+			1388			62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.4162G>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686093	0.29962	.	.	ENSG00000067445	ENST00000173898;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T	0.06849	4.0;3.25;3.63	1.48	-0.998	0.10212	.	.	.	.	.	T	0.09468	0.0233	L	0.38838	1.175	0.09310	N	1	D;D	0.57571	0.98;0.98	P;P	0.54629	0.448;0.757	T	0.27054	-1.0085	9	0.15499	T	0.54	.	4.5971	0.12334	0.3921:0.0:0.6079:0.0	.	991;1388	B1AKE9;Q12816	.;TROP_HUMAN	S	1388;314;919;991	ENSP00000173898:G1388S;ENSP00000405126:G919S;ENSP00000364181:G991S	ENSP00000173898:G1388S	G	+	1	0	TRO	54974044	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-4.125000	0.00290	-0.430000	0.07318	-0.347000	0.07816	GGT		0.612	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		4	194	0	0	0	1	0	4	194				
APCDD1	147495	broad.mit.edu	37	18	10471888	10471888	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr18:10471888G>A	ENST00000355285.5	+	3	958	c.604G>A	c.(604-606)Gtg>Atg	p.V202M	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CACCAAGGCCGTGAACTTTGC	0.607																																						ENST00000355285.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(604-606)Gtg>Atg		adenomatosis polyposis coli down-regulated 1							145.0	132.0	136.0					18																	10471888		2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10471888G>A	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.604G>A	18.37:g.10471888G>A	ENSP00000347433:p.Val202Met					APCDD1_ENST00000578882.1_Intron|APCDD1_ENST00000584596.1_3'UTR	p.V202M	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	3	958	+			202						Missense_Mutation	SNP	ENST00000355285.5	37	c.604G>A	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846076	0.32606	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.16324	2.35	5.3	3.47	0.39725	.	0.258668	0.38058	N	0.001836	T	0.12987	0.0315	L	0.29908	0.895	0.80722	D	1	B	0.21821	0.061	B	0.21151	0.033	T	0.05666	-1.0871	10	0.72032	D	0.01	-18.2357	9.9205	0.41462	0.0802:0.422:0.4978:0.0	.	202	Q8J025	APCD1_HUMAN	M	202;253	ENSP00000347433:V202M	ENSP00000347433:V202M	V	+	1	0	APCDD1	10461888	0.995000	0.38212	0.965000	0.40720	0.873000	0.50193	2.346000	0.44027	0.581000	0.29539	0.655000	0.94253	GTG		0.607	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		5	276	0	0	0	1	0	5	276				
SSH1	54434	broad.mit.edu	37	12	109201543	109201543	+	Silent	SNP	G	G	A			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr12:109201543G>A	ENST00000326495.5	-	8	690	c.597C>T	c.(595-597)ccC>ccT	p.P199P	SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000326470.5_Silent_p.P210P|SSH1_ENST00000551165.1_Silent_p.P199P	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	199					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTACACCCCCGGGGAAGTAGT	0.612																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(595-597)ccC>ccT		slingshot protein phosphatase 1							51.0	53.0	53.0					12																	109201543		2203	4300	6503	SO:0001819	synonymous_variant	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109201543G>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.597C>T	12.37:g.109201543G>A						SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000551165.1_Silent_p.P199P|SSH1_ENST00000326470.5_Silent_p.P210P	p.P199P	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			8	690	-			199					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	c.597C>T	CCDS9121.1																																																																																				0.612	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		4	83	0	0	0	1	0	4	83				
NCOA3	8202	broad.mit.edu	37	20	46267869	46267869	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr20:46267869C>T	ENST00000371998.3	+	14	2821	c.2630C>T	c.(2629-2631)cCc>cTc	p.P877L	NCOA3_ENST00000372004.3_Missense_Mutation_p.P877L|NCOA3_ENST00000371997.3_Missense_Mutation_p.P887L|NCOA3_ENST00000341724.6_Intron			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	877					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGTGCTTTCCCCATGTTACCA	0.428																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(2629-2631)cCc>cTc		nuclear receptor coactivator 3							115.0	109.0	111.0					20																	46267869		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46267869C>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2630C>T	20.37:g.46267869C>T	ENSP00000361066:p.Pro877Leu					NCOA3_ENST00000341724.6_Intron|NCOA3_ENST00000371997.3_Missense_Mutation_p.P887L|NCOA3_ENST00000371998.3_Missense_Mutation_p.P877L	p.P877L	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			14	2846	+			877					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.2630C>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889970	0.52014	.	.	ENSG00000124151	ENST00000340189;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T	0.02280	4.43;4.36;4.45	5.61	5.61	0.85477	.	0.234221	0.38005	N	0.001859	T	0.07324	0.0185	L	0.50333	1.59	0.80722	D	1	B;P;B;B;B;B	0.52463	0.081;0.953;0.177;0.001;0.006;0.004	B;P;B;B;B;B	0.53401	0.071;0.725;0.199;0.011;0.025;0.011	T	0.27191	-1.0081	10	0.40728	T	0.16	-8.7229	19.6272	0.95682	0.0:1.0:0.0:0.0	.	877;887;881;877;877;877	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	L	877;877;877;887	ENSP00000361073:P877L;ENSP00000361066:P877L;ENSP00000361065:P887L	ENSP00000345671:P877L	P	+	2	0	NCOA3	45701276	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	5.038000	0.64177	2.634000	0.89283	0.650000	0.86243	CCC		0.428	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		12	112	0	0	0	1	0	12	112				
ETV3L	440695	broad.mit.edu	37	1	157068581	157068581	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr1:157068581G>A	ENST00000454449.2	-	3	687	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	135					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGCGGCGCCCGCACTTCCCAC	0.577																																						ENST00000454449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(403-405)Cgg>Tgg		ets variant 3-like							82.0	87.0	85.0					1																	157068581		2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068581G>A	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.403C>T	1.37:g.157068581G>A	ENSP00000430271:p.Arg135Trp						p.R135W	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			3	687	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	135						Missense_Mutation	SNP	ENST00000454449.2	37	c.403C>T	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125687	0.37533	.	.	ENSG00000253831	ENST00000454449	T	0.55413	0.52	4.61	0.269	0.15631	.	2.538740	0.02278	N	0.069120	T	0.18299	0.0439	N	0.20986	0.625	0.24495	N	0.994285	B	0.13145	0.007	B	0.09377	0.004	T	0.14643	-1.0465	10	0.51188	T	0.08	.	6.0065	0.19549	0.2498:0.0:0.617:0.1332	.	135	Q6ZN32	ETV3L_HUMAN	W	135	ENSP00000430271:R135W	ENSP00000430271:R135W	R	-	1	2	ETV3L	155335205	0.000000	0.05858	0.903000	0.35520	0.821000	0.46438	0.367000	0.20382	0.255000	0.21593	0.655000	0.94253	CGG		0.577	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		4	143	0	0	0	1	0	4	143				
NLRP12	91662	broad.mit.edu	37	19	54313442	54313442	+	Missense_Mutation	SNP	C	C	T	rs200795570		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr19:54313442C>T	ENST00000324134.6	-	3	1639	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	NLRP12_ENST00000351894.4_Missense_Mutation_p.V491I|NLRP12_ENST00000391773.1_Missense_Mutation_p.V491I|NLRP12_ENST00000391772.1_Missense_Mutation_p.V491I|NLRP12_ENST00000391775.3_Missense_Mutation_p.V491I|NLRP12_ENST00000354278.3_Missense_Mutation_p.V491I|NLRP12_ENST00000535162.1_Missense_Mutation_p.V491I|NLRP12_ENST00000345770.5_Missense_Mutation_p.V491I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	491	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.V491I(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAGGCAGAGACGTCTTCCCCG	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19951	0.0		0.0	False		,,,				2504	0.0					ENST00000324134.6																			1	Substitution - Missense(1)	p.V491I(1)	upper_aerodigestive_tract(1)	NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(1471-1473)Gtc>Atc		NLR family, pyrin domain containing 12							118.0	119.0	118.0					19																	54313442		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313442C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1471G>A	19.37:g.54313442C>T	ENSP00000319377:p.Val491Ile					NLRP12_ENST00000535162.1_Missense_Mutation_p.V491I|NLRP12_ENST00000354278.3_Missense_Mutation_p.V491I|NLRP12_ENST00000345770.5_Missense_Mutation_p.V491I|NLRP12_ENST00000391772.1_Missense_Mutation_p.V491I|NLRP12_ENST00000391773.1_Missense_Mutation_p.V491I|NLRP12_ENST00000391775.3_Missense_Mutation_p.V491I|NLRP12_ENST00000351894.4_Missense_Mutation_p.V491I	p.V491I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1639	-	Ovarian(34;0.19)		491			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.1471G>A	CCDS12864.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	8.415	0.845091	0.16963	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	4.43	3.4	0.38934	NACHT nucleoside triphosphatase (1);	0.000000	0.33875	N	0.004474	T	0.71863	0.3390	L	0.37630	1.12	0.80722	D	1	D;D;B;D	0.57257	0.979;0.979;0.015;0.971	B;B;B;B	0.39840	0.307;0.307;0.003;0.311	T	0.68792	-0.5315	10	0.31617	T	0.26	.	10.3052	0.43676	0.0:0.9011:0.0:0.0989	.	491;491;491;491	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	I	491	ENSP00000319377:V491I;ENSP00000438030:V491I;ENSP00000340473:V491I;ENSP00000346231:V491I;ENSP00000375655:V491I;ENSP00000375653:V491I;ENSP00000375652:V491I	ENSP00000319377:V491I	V	-	1	0	NLRP12	59005254	0.000000	0.05858	0.045000	0.18777	0.031000	0.12232	0.085000	0.14912	0.995000	0.38917	0.485000	0.47835	GTC		0.512	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		4	161	0	0	0	1	0	4	161				
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						ENST00000268489.5																			3	Substitution - coding silent(3)	p.G3519G(3)	lung(2)|prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10555-10557)ggT>ggC		zinc finger homeobox 3							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	p.G3519G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11229	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	44	0	0	0	1	0	4	44				
PAGE1	8712	broad.mit.edu	37	X	49454129	49454129	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chrX:49454129C>T	ENST00000376150.3	-	5	442	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	104					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					TCCTGGCTATCCGCTTCAGGC	0.363																																						ENST00000376150.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7						c.(310-312)Gat>Aat		P antigen family, member 1 (prostate associated)							69.0	65.0	66.0					X																	49454129		2203	4300	6503	SO:0001583	missense	8712				cellular defense response			g.chrX:49454129C>T	AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"""G antigen, family B, 1 (prostate associated)"""	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.310G>A	X.37:g.49454129C>T	ENSP00000365320:p.Asp104Asn						p.D104N	NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN			5	442	-	Ovarian(276;0.236)		104					Q6FGM3|Q9BSS7	Missense_Mutation	SNP	ENST00000376150.3	37	c.310G>A	CCDS14327.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365978	0.24684	.	.	ENSG00000068985	ENST00000376150	T	0.12361	2.69	1.03	-2.06	0.07298	.	.	.	.	.	T	0.25791	0.0628	M	0.81802	2.56	0.09310	N	1	D	0.67145	0.996	D	0.66847	0.947	T	0.19224	-1.0312	9	0.18710	T	0.47	.	1.6907	0.02851	0.3076:0.38:0.0:0.3124	.	104	O75459	GAGB1_HUMAN	N	104	ENSP00000365320:D104N	ENSP00000365320:D104N	D	-	1	0	PAGE1	49341083	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.658000	0.05329	-1.019000	0.03358	0.179000	0.17066	GAT		0.363	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1			11	125	0	0	0	1	0	11	125				
SLAMF6	114836	broad.mit.edu	37	1	160466091	160466091	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr1:160466091C>G	ENST00000368057.3	-	2	202	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368059.3_Missense_Mutation_p.E48Q			Q96DU3	SLAF6_HUMAN	SLAM family member 6	48	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)			TTGACCTTCTCTCCTGCAGGA	0.453																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(142-144)Gag>Cag		SLAM family member 6							234.0	224.0	227.0					1																	160466091		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160466091C>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.142G>C	1.37:g.160466091C>G	ENSP00000357036:p.Glu48Gln					SLAMF6_ENST00000368057.3_Missense_Mutation_p.E48Q|SLAMF6_ENST00000368055.1_Intron	p.E48Q	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	211	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		48					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.142G>C	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727408	0.30593	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	T;T	0.67345	-0.26;-0.26	4.95	0.235	0.15431	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.591469	0.17179	N	0.183966	T	0.47893	0.1470	L	0.38692	1.165	0.09310	N	1	D;D	0.67145	0.996;0.996	P;P	0.58620	0.842;0.842	T	0.43458	-0.9390	10	0.27785	T	0.31	-8.3213	7.6405	0.28290	0.0:0.5882:0.0:0.4118	.	48;48	Q96DU3;B2R8X8	SLAF6_HUMAN;.	Q	48	ENSP00000357038:E48Q;ENSP00000357036:E48Q	ENSP00000357036:E48Q	E	-	1	0	SLAMF6	158732715	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.445000	0.02401	0.118000	0.18165	-0.150000	0.13652	GAG		0.453	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		13	261	0	0	0	1	0	13	261				
IGKV1-9	28941	broad.mit.edu	37	2	89309575	89309575	+	RNA	SNP	G	G	A	rs568447941		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr2:89309575G>A	ENST00000493819.1	-	0	312									immunoglobulin kappa variable 1-9																		ATCCACTGCCGCTGAACCTTG	0.478																																						ENST00000493819.1																			0																				116.0	110.0	112.0					2																	89309575		1816	4066	5882			28941							g.chr2:89309575G>A	Z00013		2p11.2	2012-02-10			ENSG00000241755	ENSG00000241755		"""Immunoglobulins / IGK locus"""	5744	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV19, L8			OTTHUMG00000151637		2.37:g.89309575G>A														0	312	-									RNA	SNP	ENST00000493819.1	37																																																																																						0.478	IGKV1-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323361.1	NG_000834		5	310	0	0	0	1	0	5	310				
PRCP	5547	broad.mit.edu	37	11	82536060	82536060	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr11:82536060C>T	ENST00000313010.3	-	9	1573	c.1379G>A	c.(1378-1380)cGc>cAc	p.R460H	PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Missense_Mutation_p.R481H|PRCP_ENST00000535099.1_Missense_Mutation_p.R355H	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	460					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ATTCTTGGTGCGGAGATCTAA	0.502																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(1378-1380)cGc>cAc		prolylcarboxypeptidase (angiotensinase C)							104.0	96.0	99.0					11																	82536060		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82536060C>T	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1379G>A	11.37:g.82536060C>T	ENSP00000317362:p.Arg460His					PRCP_ENST00000535099.1_Missense_Mutation_p.R355H|PRCP_ENST00000393399.2_Missense_Mutation_p.R481H|PRCP_ENST00000525772.1_5'UTR	p.R460H	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN			9	1573	-			460					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.1379G>A	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806831	0.70797	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099	T;T;T	0.14266	2.52;2.52;2.52	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.981	T	0.66810	-0.5829	9	.	.	.	-8.9338	19.5974	0.95547	0.0:1.0:0.0:0.0	.	460;481	P42785;A8MU24	PCP_HUMAN;.	H	460;481;355	ENSP00000317362:R460H;ENSP00000377055:R481H;ENSP00000442077:R355H	.	R	-	2	0	PRCP	82213708	1.000000	0.71417	0.365000	0.25901	0.048000	0.14542	6.531000	0.73820	2.722000	0.93159	0.467000	0.42956	CGC		0.502	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		6	51	0	0	0	1	0	6	51				
TLR9	54106	broad.mit.edu	37	3	52257252	52257252	+	Silent	SNP	G	G	A	rs201118338		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr3:52257252G>A	ENST00000360658.2	-	2	1713	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	TLR9_ENST00000494383.1_Missense_Mutation_p.R514W|TLR9_ENST00000597542.1_Silent_p.F384F	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	360					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	CCAGGCTCCCGAAGGAAGGGG	0.612																																						ENST00000494383.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1540-1542)Cgg>Tgg		toll-like receptor 9	Chloroquine(DB00608)						81.0	83.0	82.0					3																	52257252		2203	4300	6503	SO:0001819	synonymous_variant	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52257252G>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1080C>T	3.37:g.52257252G>A						TLR9_ENST00000360658.2_Silent_p.F360F|TLR9_ENST00000597542.1_Silent_p.F384F	p.R514W			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	1539	-			0					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.1540C>T	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.482935	0.01027	.	.	ENSG00000173366	ENST00000494383	.	.	.	5.08	0.72	0.18214	.	.	.	.	.	T	0.54615	0.1869	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43032	-0.9416	4	.	.	.	.	7.7142	0.28694	0.4767:0.0:0.5233:0.0	.	.	.	.	W	514	.	.	R	-	1	2	RP11-330H6.5	52232292	0.000000	0.05858	0.082000	0.20525	0.053000	0.15095	-1.892000	0.01610	-0.106000	0.12110	-0.748000	0.03510	CGG		0.612	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			4	113	0	0	0	1	0	4	113				
EGFL7	51162	broad.mit.edu	37	9	139563123	139563123	+	Silent	SNP	C	C	T			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr9:139563123C>T	ENST00000371699.1	+	4	1106	c.195C>T	c.(193-195)taC>taT	p.Y65Y	EGFL7_ENST00000308874.7_Silent_p.Y65Y|EGFL7_ENST00000492002.1_3'UTR|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000406555.3_Silent_p.Y65Y|EGFL7_ENST00000371698.3_Silent_p.Y65Y			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	65	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GCAGCACCTACCGGTGAGTGC	0.687																																						ENST00000371699.1																			0				kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6						c.(193-195)taC>taT		EGF-like-domain, multiple 7							60.0	59.0	59.0					9																	139563123		2203	4291	6494	SO:0001819	synonymous_variant	51162				angiogenesis|vasculogenesis		calcium ion binding	g.chr9:139563123C>T	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.195C>T	9.37:g.139563123C>T						EGFL7_ENST00000371698.3_Silent_p.Y65Y|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000308874.7_Silent_p.Y65Y|EGFL7_ENST00000406555.3_Silent_p.Y65Y	p.Y65Y			Q9UHF1	EGFL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	4	1106	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	65			EMI.		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Silent	SNP	ENST00000371699.1	37	c.195C>T	CCDS7002.1																																																																																				0.687	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		4	147	0	0	0	1	0	4	147				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	27	0	0	0	1	0	4	27				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	25	0	0	0	1	0	3	25				
TYR	7299	broad.mit.edu	37	11	88911771	88911771	+	Missense_Mutation	SNP	G	G	A	rs61754365		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr11:88911771G>A	ENST00000263321.5	+	1	1152	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	217			Missing (in OCA1A).|R -> G (in OCA1A).|R -> Q (in OCA1A). {ECO:0000269|PubMed:10987646, ECO:0000269|PubMed:1487241}.|R -> S (in OCA1A). {ECO:0000269|PubMed:15146472}.|R -> W (in OCA1A). {ECO:0000269|PubMed:10987646, ECO:0000269|PubMed:1642278}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TTCTTGTTGCGGTGGGAACAA	0.463																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	GRCh37	CM930714	TYR	M	rs61754365	c.(649-651)cGg>cAg		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	G	GLN/ARG	0,4402		0,0,2201	131.0	126.0	128.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	650	3.7	1.0	11	dbSNP_129	128	4,8594	3.7+/-12.6	0,4,4295	yes	missense	TYR	NM_000372.4	43	0,4,6496	AA,AG,GG		0.0465,0.0,0.0308	benign	217/530	88911771	4,12996	2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911771G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.650G>A	11.37:g.88911771G>A	ENSP00000263321:p.Arg217Gln					TYR_ENST00000526139.1_3'UTR	p.R217Q	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			1	1152	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	217		Missing (in OCA1A).|R -> G (in OCA1A).|R -> Q (in OCA1A).|R -> S (in OCA1A).|R -> W (in OCA1A).			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.650G>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463235	0.26248	0.0	4.65E-4	ENSG00000077498	ENST00000263321	D	0.98567	-5.0	6.07	3.74	0.42951	Tyrosinase (3);Uncharacterised domain, di-copper centre (2);	0.311519	0.35040	N	0.003483	D	0.92061	0.7484	N	0.05158	-0.105	0.21020	N	0.99981	B	0.06786	0.001	B	0.09377	0.004	T	0.83177	-0.0091	9	.	.	.	.	7.3126	0.26483	0.2347:0.0:0.1511:0.6142	rs61754365	217	P14679	TYRO_HUMAN	Q	217	ENSP00000263321:R217Q	.	R	+	2	0	TYR	88551419	0.916000	0.31088	0.986000	0.45419	0.983000	0.72400	1.554000	0.36266	0.510000	0.28216	-0.274000	0.10170	CGG		0.463	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		4	172	0	0	0	1	0	4	172				
MGAT5B	146664	broad.mit.edu	37	17	74928764	74928764	+	Silent	SNP	C	C	T	rs141461687	byFrequency	TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr17:74928764C>T	ENST00000569840.2	+	11	1903	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	MGAT5B_ENST00000301618.4_Silent_p.S443S|MGAT5B_ENST00000428789.2_Silent_p.S454S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	443					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTTCGTGTCCGAGGAGCTCA	0.622													c|||	31	0.0061901	0.0	0.0	5008	,	,		15047	0.0		0.003	False		,,,				2504	0.0286					ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1327-1329)tcC>tcT		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B		T	,,	6,4400	11.4+/-27.6	0,6,2197	102.0	88.0	93.0		1329,1329,1362	-8.6	0.6	17	dbSNP_134	93	32,8568	22.2+/-67.0	0,32,4268	no	coding-synonymous,coding-synonymous,coding-synonymous	MGAT5B	NM_001199172.1,NM_144677.2,NM_198955.1	,,	0,38,6465	TT,TC,CC		0.3721,0.1362,0.2922	,,	443/793,443/791,454/802	74928764	38,12968	2203	4300	6503	SO:0001819	synonymous_variant	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74928764C>T	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1329C>T	17.37:g.74928764C>T						MGAT5B_ENST00000428789.2_Silent_p.S454S|MGAT5B_ENST00000301618.4_Silent_p.S443S	p.S443S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN			11	1903	+			443					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Silent	SNP	ENST00000569840.2	37	c.1329C>T	CCDS59299.1																																																																																				0.622	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		19	121	0	0	0	1	0	19	121				
ARMC9	80210	broad.mit.edu	37	2	232127058	232127058	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr2:232127058G>A	ENST00000349938.4	+	12	1260	c.1066G>A	c.(1066-1068)Gtt>Att	p.V356I	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	356						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GAGGGAGACCGTTCTGCAAGC	0.493																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1066-1068)Gtt>Att		armadillo repeat containing 9							154.0	139.0	144.0					2																	232127058		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232127058G>A	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1066G>A	2.37:g.232127058G>A	ENSP00000258417:p.Val356Ile					ARMC9_ENST00000483477.1_3'UTR	p.V356I	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	12	1260	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	356					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.1066G>A	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820116	0.50633	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000436339	T	0.20881	2.04	4.03	3.15	0.36227	.	0.000000	0.85682	D	0.000000	T	0.13713	0.0332	L	0.41710	1.295	0.45161	D	0.998178	P	0.44776	0.843	B	0.31614	0.133	T	0.04946	-1.0916	10	0.44086	T	0.13	-19.8726	11.2034	0.48754	0.0941:0.0:0.9059:0.0	.	356	Q7Z3E5	ARMC9_HUMAN	I	356;356;73	ENSP00000258417:V356I	ENSP00000258417:V356I	V	+	1	0	ARMC9	231835302	1.000000	0.71417	0.148000	0.22405	0.802000	0.45316	4.368000	0.59505	0.839000	0.34971	-0.596000	0.04108	GTT		0.493	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		4	120	0	0	0	1	0	4	120				
RFPL4B	442247	broad.mit.edu	37	6	112671339	112671339	+	Silent	SNP	C	C	T			TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr6:112671339C>T	ENST00000441065.2	+	3	741	c.429C>T	c.(427-429)tcC>tcT	p.S143S	RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	143	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GCTTCTCCTCCGGCCAACATT	0.532																																						ENST00000441065.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14						c.(427-429)tcC>tcT		ret finger protein-like 4B							66.0	71.0	69.0					6																	112671339		2203	4300	6503	SO:0001819	synonymous_variant	442247						zinc ion binding	g.chr6:112671339C>T	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.429C>T	6.37:g.112671339C>T							p.S143S	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	741	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	143			B30.2/SPRY.		A2RU91	Silent	SNP	ENST00000441065.2	37	c.429C>T	CCDS34515.1																																																																																				0.532	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		7	76	0	0	0	1	0	7	76				
ZNF227	7770	broad.mit.edu	37	19	44739946	44739946	+	Missense_Mutation	SNP	C	C	T	rs575630823		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr19:44739946C>T	ENST00000313040.7	+	6	1568	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W	ZNF227_ENST00000589005.1_Missense_Mutation_p.R404W|ZNF227_ENST00000391961.2_Missense_Mutation_p.R404W	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	455					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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AATATGCCATCGGAGAGTCCA	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		21457	0.0		0.0	False		,,,				2504	0.001					ENST00000313040.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24						c.(1363-1365)Cgg>Tgg		zinc finger protein 227							93.0	91.0	92.0					19																	44739946		2203	4300	6503	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44739946C>T	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1363C>T	19.37:g.44739946C>T	ENSP00000321049:p.Arg455Trp					ZNF227_ENST00000589005.1_Missense_Mutation_p.R404W|ZNF227_ENST00000391961.2_Missense_Mutation_p.R404W	p.R455W	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN			6	1568	+		Prostate(69;0.0435)	455					B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.1363C>T	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347012	0.61183	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.07688	3.17;3.17	4.02	1.7	0.24286	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19967	0.0480	L	0.60845	1.875	0.80722	D	1	B;D;D;B	0.89917	0.075;1.0;1.0;0.075	B;D;D;B	0.78314	0.022;0.981;0.991;0.022	T	0.01192	-1.1423	9	0.62326	D	0.03	.	7.8126	0.29241	0.1609:0.7443:0.0:0.0947	.	376;434;407;455	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	W	455;412;404;434;156	ENSP00000321049:R455W;ENSP00000375823:R404W	ENSP00000321049:R455W	R	+	1	2	ZNF227	49431786	0.003000	0.15002	0.992000	0.48379	0.998000	0.95712	1.060000	0.30530	1.022000	0.39626	0.563000	0.77884	CGG		0.468	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		4	154	0	0	0	1	0	4	154				
PAK7	57144	broad.mit.edu	37	20	9561503	9561503	+	Silent	SNP	C	C	T	rs193260191		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr20:9561503C>T	ENST00000378429.3	-	5	825	c.279G>A	c.(277-279)tcG>tcA	p.S93S	PAK7_ENST00000378423.1_Silent_p.S93S|PAK7_ENST00000353224.5_Silent_p.S93S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	93	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGCGAGTCACCGAGATGTTGT	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		15638	0.0		0.001	False		,,,				2504	0.0					ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(277-279)tcG>tcA		p21 protein (Cdc42/Rac)-activated kinase 7							122.0	122.0	122.0					20																	9561503		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561503C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.279G>A	20.37:g.9561503C>T						PAK7_ENST00000378423.1_Silent_p.S93S|PAK7_ENST00000353224.5_Silent_p.S93S	p.S93S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	825	-			93			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.279G>A	CCDS13107.1																																																																																				0.512	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			5	271	0	0	0	1	0	5	271				
SACS	26278	broad.mit.edu	37	13	23939316	23939316	+	Missense_Mutation	SNP	G	G	A	rs370474035		TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr13:23939316G>A	ENST00000382292.3	-	5	719	c.446C>T	c.(445-447)gCg>gTg	p.A149V	SACS_ENST00000382298.3_Missense_Mutation_p.A149V|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	149					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGATATGGCGCCATATCTTT	0.328													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15813	0.0		0.0	False		,,,				2504	0.0					ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(445-447)gCg>gTg		spastic ataxia of Charlevoix-Saguenay (sacsin)		G	VAL/ALA	0,4402		0,0,2201	94.0	86.0	89.0		446	3.7	0.9	13		89	1,8597	1.2+/-3.3	0,1,4298	no	missense	SACS	NM_014363.4	64	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	149/4580	23939316	1,12999	2201	4299	6500	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23939316G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.446C>T	13.37:g.23939316G>A	ENSP00000371729:p.Ala149Val					SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Missense_Mutation_p.A149V	p.A149V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	6	1034	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	149					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.446C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218267	0.58560	0.0	1.16E-4	ENSG00000151835	ENST00000382292;ENST00000382298	D;D	0.95412	-3.7;-3.7	5.68	3.69	0.42338	ATPase-like, ATP-binding domain (2);	0.241147	0.40144	N	0.001173	D	0.91988	0.7462	L	0.43923	1.385	0.36849	D	0.8878	P;B	0.51537	0.946;0.138	B;B	0.42386	0.386;0.038	D	0.92217	0.5781	10	0.41790	T	0.15	.	10.761	0.46264	0.0702:0.0:0.761:0.1688	.	48;149	B2REB1;Q9NZJ4	.;SACS_HUMAN	V	149	ENSP00000371729:A149V;ENSP00000371735:A149V	ENSP00000371729:A149V	A	-	2	0	SACS	22837316	0.998000	0.40836	0.918000	0.36340	0.991000	0.79684	2.643000	0.46604	1.549000	0.49425	0.591000	0.81541	GCG		0.328	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		4	49	0	0	0	1	0	4	49				
RP11-439I14.2	0	broad.mit.edu	37	16	64770704	64770705	+	lincRNA	INS	-	-	CCAGTGATGGTCACCT	rs200421189|rs71143515|rs377231404|rs145408521|rs140029302	byFrequency	TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr16:64770704_64770705insCCAGTGATGGTCACCT	ENST00000564293.1	+	0	453_454																											TGTCACCACTGCCACCTTGTTC	0.371														3288	0.65655	0.8434	0.5144	5008	,	,		21531	0.6052		0.5537	False		,,,				2504	0.6636					ENST00000564293.1																			0																																																			0							g.chr16:64770704_64770705insCCAGTGATGGTCACCT																													16.37:g.64770704_64770705insCCAGTGATGGTCACCT														0	453_454	+									RNA	INS	ENST00000564293.1	37																																																																																						0.371	RP11-439I14.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000422725.1			4	8						4	8	---	---	---	---
SERHL	94009	broad.mit.edu	37	22	42898665	42898666	+	RNA	INS	-	-	C	rs375411583	byFrequency	TCGA-BA-A6DB-01A-11D-A30E-08	TCGA-BA-A6DB-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041344f2-1b9f-4679-aa68-cc4b7c4b1c16	5ffe305e-72e6-46e1-be69-b42dca5ab179	g.chr22:42898665_42898666insC	ENST00000359906.2	+	0	409					NR_027786.1		Q9NQF3	SERHL_HUMAN	serine hydrolase-like								hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)	2						CCCATATGGTGCCCCCCCCCCA	0.589																																						ENST00000359906.2																			0				endometrium(1)|large_intestine(1)	2								serine hydrolase-like																																						94009							g.chr22:42898665_42898666insC	AL365513		22q13.2-q13.31	2009-10-06				ENSG00000172250			14408	protein-coding gene	gene with protein product	"""kraken-like"""	607979				11352564	Standard	NR_027786		Approved	HS126B42, BK126B4.1, dJ222E13.1	uc021wql.1	Q9NQF3			22.37:g.42898675_42898675dupC								NR_027786.1						0	409	+								Q5JZ95|Q9UH21	RNA	INS	ENST00000359906.2	37																																																																																						0.589	SERHL-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000320498.2	NM_170694		2	4						2	4	---	---	---	---
