#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
C1orf158	93190	broad.mit.edu	37	1	12819314	12819314	+	Silent	SNP	C	C	T	rs376941543	byFrequency	TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:12819314C>T	ENST00000288048.5	+	3	513	c.297C>T	c.(295-297)gaC>gaT	p.D99D	C1orf158_ENST00000376210.3_Silent_p.D61D	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	99										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCTATGACGACCATTACA	0.567													C|||	3	0.000599042	0.0	0.0	5008	,	,		19269	0.0		0.0	False		,,,				2504	0.0031					uc001auh.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(295-297)GAC>GAT		hypothetical protein LOC93190		C		0,4406		0,0,2203	194.0	194.0	194.0		297	-0.8	1.0	1		194	1,8599		0,1,4299	no	coding-synonymous	C1orf158	NM_152290.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		99/195	12819314	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	93190							g.chr1:12819314C>T	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.297C>T	1.37:g.12819314C>T						C1orf158_uc010obe.1_Silent_p.D99D	p.D99D	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	513	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	99					Q5VUY4	Silent	SNP	ENST00000288048.5	37	c.297C>T	CCDS147.1																																																																																				0.567	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		9	175	0	0	0	0	9	175				
TAS1R2	80834	broad.mit.edu	37	1	19166791	19166791	+	Silent	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:19166791G>A	ENST00000375371.3	-	6	1843	c.1822C>T	c.(1822-1824)Ctg>Ttg	p.L608L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	608					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGCAGTGTCAGCATCAGGAAG	0.632																																						uc001bba.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1822-1824)CTG>TTG		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)						65.0	66.0	66.0					1																	19166791		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166791G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1822C>T	1.37:g.19166791G>A							p.L608L	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	1823	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	608			Helical; Name=2; (Potential).		Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.1822C>T	CCDS187.1																																																																																				0.632	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			4	96	0	0	0	0	4	96				
EIF4G3	8672	broad.mit.edu	37	1	21191633	21191633	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:21191633C>G	ENST00000264211.8	-	15	2771	c.2577G>C	c.(2575-2577)caG>caC	p.Q859H	EIF4G3_ENST00000537738.1_Missense_Mutation_p.Q349H|EIF4G3_ENST00000536266.1_Missense_Mutation_p.Q463H|EIF4G3_ENST00000602326.1_Missense_Mutation_p.Q865H|EIF4G3_ENST00000374937.3_Missense_Mutation_p.Q865H|EIF4G3_ENST00000400422.1_Missense_Mutation_p.Q859H|EIF4G3_ENST00000374935.3_Missense_Mutation_p.Q579H	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	859	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAAGTTCTTTCTGCTTCTTCT	0.408																																						uc001bec.2		NA																	0				skin(1)	1						c.(2575-2577)CAG>CAC		eukaryotic translation initiation factor 4							190.0	174.0	180.0					1																	21191633		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21191633C>G	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2577G>C	1.37:g.21191633C>G	ENSP00000264211:p.Gln859His					EIF4G3_uc010odi.1_Missense_Mutation_p.Q463H|EIF4G3_uc010odj.1_Missense_Mutation_p.Q858H|EIF4G3_uc009vpz.2_Missense_Mutation_p.Q579H|EIF4G3_uc001bed.2_Missense_Mutation_p.Q859H|EIF4G3_uc001bef.2_Missense_Mutation_p.Q895H|EIF4G3_uc001bee.2_Missense_Mutation_p.Q865H	p.Q859H	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	16	2833	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	859			eIF3/EIF4A-binding (By similarity).|MIF4G.|HEAT 3.		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.2577G>C	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675896	0.67928	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.55	4.64	0.57946	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.055326	0.64402	D	0.000001	T	0.34279	0.0892	M	0.84326	2.69	0.80722	D	1	P;B;B;P;B	0.43578	0.811;0.12;0.049;0.606;0.139	B;B;B;B;B	0.41813	0.367;0.179;0.112;0.212;0.151	T	0.26538	-1.0100	10	0.52906	T	0.07	-11.1844	10.36	0.43987	0.0:0.8516:0.0:0.1484	.	1054;579;463;865;859	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	H	859;1055;859;579;349;865;463	ENSP00000264211:Q859H;ENSP00000383274:Q859H;ENSP00000364071:Q579H;ENSP00000442010:Q349H;ENSP00000364073:Q865H;ENSP00000444693:Q463H	ENSP00000264211:Q859H	Q	-	3	2	EIF4G3	21064220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.613000	0.46351	1.364000	0.46038	0.650000	0.86243	CAG		0.408	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		3	109	0	0	0	0	3	109				
ARID1A	8289	broad.mit.edu	37	1	27089711	27089711	+	Silent	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:27089711C>T	ENST00000324856.7	+	8	3038	c.2667C>T	c.(2665-2667)ggC>ggT	p.G889G	ARID1A_ENST00000457599.2_Silent_p.G889G|RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000374152.2_Silent_p.G506G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	889					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CACCAGGGGGCATGAACCGGA	0.567			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(2665-2667)GGC>GGT		AT rich interactive domain 1A isoform a							53.0	49.0	50.0					1																	27089711		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27089711C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2667C>T	1.37:g.27089711C>T						ARID1A_uc001bmt.1_Silent_p.G889G|ARID1A_uc001bmu.1_Silent_p.G889G|ARID1A_uc001bmw.1_Silent_p.G506G	p.G889G	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	8	3040	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	889					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.2667C>T	CCDS285.1																																																																																				0.567	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		4	42	0	0	0	0	4	42				
SRSF4	6429	broad.mit.edu	37	1	29475489	29475489	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:29475489C>G	ENST00000373795.4	-	6	1152	c.918G>C	c.(916-918)gaG>gaC	p.E306D	SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	306	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						ccactctcctctcctgactcc	0.572																																						uc001bro.2		NA																	0					0						c.(916-918)GAG>GAC		splicing factor, arginine/serine-rich 4							117.0	123.0	121.0					1																	29475489		2203	4300	6503	SO:0001583	missense	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475489C>G	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.918G>C	1.37:g.29475489C>G	ENSP00000362900:p.Glu306Asp					SFRS4_uc010ofy.1_3'UTR	p.E306D	NM_005626	NP_005617	Q08170	SRSF4_HUMAN		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)	6	1291	-		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)	306			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	c.918G>C	CCDS333.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948846	0.34377	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.11277	2.79	5.87	5.87	0.94306	.	0.483083	0.19505	N	0.112646	T	0.15392	0.0371	N	0.15975	0.35	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.18147	-1.0346	10	0.20519	T	0.43	.	12.1435	0.54010	0.0:0.9217:0.0:0.0783	.	306	Q08170	SRSF4_HUMAN	D	306	ENSP00000362900:E306D	ENSP00000362900:E306D	E	-	3	2	SRSF4	29348076	0.789000	0.28775	1.000000	0.80357	0.966000	0.64601	0.367000	0.20382	2.773000	0.95371	0.643000	0.83706	GAG		0.572	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		8	173	0	0	0	0	8	173				
STIL	6491	broad.mit.edu	37	1	47717292	47717292	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:47717292C>A	ENST00000360380.3	-	18	3743	c.3380G>T	c.(3379-3381)gGa>gTa	p.G1127V	STIL_ENST00000371877.3_Missense_Mutation_p.G1128V|STIL_ENST00000396221.2_Missense_Mutation_p.G1110V|STIL_ENST00000337817.5_Missense_Mutation_p.G1127V|STIL_ENST00000243182.6_Missense_Mutation_p.G1127V	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1127					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTGTAGGAGTCCATATCTCTT	0.378																																						uc001crc.1		NA																	0				lung(2)|skin(1)	3						c.(3379-3381)GGA>GTA		SCL/TAL1 interrupting locus isoform 2							164.0	166.0	165.0					1																	47717292		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47717292C>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3380G>T	1.37:g.47717292C>A	ENSP00000353544:p.Gly1127Val					TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.G1081V|STIL_uc010omo.1_Missense_Mutation_p.G1110V|STIL_uc001crd.1_Missense_Mutation_p.G1128V|STIL_uc001cre.1_Missense_Mutation_p.G1127V	p.G1127V	NM_003035	NP_003026	Q15468	STIL_HUMAN			17	3535	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	1127					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.3380G>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026508	0.75390	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	T;T;T;T;T	0.74002	-0.78;-0.78;-0.8;0.88;-0.78	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.85566	0.5726	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86229	0.1636	10	0.87932	D	0	-20.3056	19.6779	0.95945	0.0:1.0:0.0:0.0	.	1110;1128;1127	E9PSF2;Q15468-2;Q15468	.;.;STIL_HUMAN	V	1127;1127;1128;1110;1127	ENSP00000353544:G1127V;ENSP00000337367:G1127V;ENSP00000360944:G1128V;ENSP00000379523:G1110V;ENSP00000243182:G1127V	ENSP00000243182:G1127V	G	-	2	0	STIL	47489879	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	6.466000	0.73543	2.656000	0.90262	0.460000	0.39030	GGA		0.378	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		7	164	1	0	0.00198382	0.00212942	7	164				
SMG5	23381	broad.mit.edu	37	1	156237465	156237465	+	Missense_Mutation	SNP	C	C	T	rs376736804		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr1:156237465C>T	ENST00000361813.5	-	10	1057	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	SMG5_ENST00000489907.2_5'Flank|SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	305					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TCTGAGTCCACGGAGCTACAG	0.572																																						uc001foc.3		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(913-915)GTG>ATG		SMG5 homolog nonsense mediated mRNA decay		C	MET/VAL	0,4406		0,0,2203	55.0	49.0	51.0		913	-1.7	0.0	1		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	SMG5	NM_015327.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	305/1017	156237465	1,13005	2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156237465C>T	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.913G>A	1.37:g.156237465C>T	ENSP00000355261:p.Val305Met					SMG5_uc009wrv.2_5'Flank	p.V305M	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			10	1062	-	Hepatocellular(266;0.158)		305					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.913G>A	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	7.574	0.667268	0.14710	0.0	1.16E-4	ENSG00000198952	ENST00000361813	T	0.15834	2.39	5.47	-1.66	0.08265	.	0.587885	0.18318	N	0.144886	T	0.02230	0.0069	N	0.08118	0	0.40409	D	0.979735	B	0.21071	0.051	B	0.22880	0.042	T	0.39800	-0.9596	10	0.41790	T	0.15	-2.5273	4.5425	0.12066	0.0903:0.4122:0.096:0.4015	.	305	Q9UPR3	SMG5_HUMAN	M	305	ENSP00000355261:V305M	ENSP00000355261:V305M	V	-	1	0	SMG5	154504089	0.000000	0.05858	0.036000	0.18154	0.042000	0.13812	-0.201000	0.09464	-0.425000	0.07371	-1.731000	0.00696	GTG		0.572	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		3	11	0	0	0	0	3	11				
OR5D16	390144	broad.mit.edu	37	11	55606601	55606601	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr11:55606601T>C	ENST00000378396.1	+	1	374	c.374T>C	c.(373-375)tTt>tCt	p.F125S		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TATGACCACTTTGTGGCCATT	0.443																																						uc010rio.1		NA																	0				ovary(4)|skin(1)	5						c.(373-375)TTT>TCT		olfactory receptor, family 5, subfamily D,							130.0	120.0	124.0					11																	55606601		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606601T>C	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.374T>C	11.37:g.55606601T>C	ENSP00000367649:p.Phe125Ser						p.F125S	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	374	+		all_epithelial(135;0.208)	125			Cytoplasmic (Potential).		Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.374T>C	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	18.59	3.656514	0.67586	.	.	ENSG00000205029	ENST00000378396	T	0.01347	4.99	4.47	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.07954	0.0199	M	0.86343	2.81	0.35170	D	0.771459	D	0.65815	0.995	D	0.73708	0.981	T	0.02457	-1.1156	9	0.87932	D	0	-32.647	7.4037	0.26979	0.3577:0.0:0.0:0.6423	.	125	Q8NGK9	OR5DG_HUMAN	S	125	ENSP00000367649:F125S	ENSP00000367649:F125S	F	+	2	0	OR5D16	55363177	0.383000	0.25156	0.906000	0.35671	0.770000	0.43624	1.036000	0.30228	1.829000	0.53265	0.433000	0.28618	TTT		0.443	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		4	123	0	0	0	0	4	123				
DDX6	1656	broad.mit.edu	37	11	118625459	118625459	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr11:118625459C>G	ENST00000526070.2	-	13	1774	c.1414G>C	c.(1414-1416)Gaa>Caa	p.E472Q	DDX6_ENST00000264018.4_Missense_Mutation_p.E472Q|DDX6_ENST00000534980.1_Missense_Mutation_p.E472Q	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	472					cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CTGTGGTATTCTGCCACATAC	0.423			T	IGH@	B-NHL																																	uc001pub.2		NA		Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				ovary(1)	1						c.(1414-1416)GAA>CAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 6							154.0	149.0	151.0					11																	118625459		1868	4103	5971	SO:0001583	missense	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118625459C>G	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.1414G>C	11.37:g.118625459C>G	ENSP00000433704:p.Glu472Gln					DDX6_uc001pua.2_Missense_Mutation_p.E172Q|DDX6_uc001puc.2_Missense_Mutation_p.E472Q	p.E472Q	NM_004397	NP_004388	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	13	1775	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	472					Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	c.1414G>C	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378184	0.82682	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.30714	1.52;1.52;1.52	5.51	5.51	0.81932	.	0.108836	0.64402	D	0.000002	T	0.38374	0.1038	M	0.75447	2.3	0.80722	D	1	P	0.51791	0.948	B	0.39840	0.311	T	0.49293	-0.8955	10	0.72032	D	0.01	.	19.0221	0.92919	0.0:1.0:0.0:0.0	.	472	P26196	DDX6_HUMAN	Q	472	ENSP00000264018:E472Q;ENSP00000442266:E472Q;ENSP00000433704:E472Q	ENSP00000264018:E472Q	E	-	1	0	DDX6	118130669	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.603000	0.88011	0.655000	0.94253	GAA		0.423	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		7	159	0	0	0	0	7	159				
ARHGEF12	23365	broad.mit.edu	37	11	120316154	120316154	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr11:120316154T>A	ENST00000397843.2	+	16	1492	c.1326T>A	c.(1324-1326)gaT>gaA	p.D442E	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D423E|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D339E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	442	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTGTTCCTGATGAAATGTCTG	0.353			T	MLL	AML																																	uc001pxl.1		NA		Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(1324-1326)GAT>GAA		Rho guanine nucleotide exchange factor (GEF) 12							223.0	199.0	206.0					11																	120316154		1870	4101	5971	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120316154T>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1326T>A	11.37:g.120316154T>A	ENSP00000380942:p.Asp442Glu					ARHGEF12_uc009zat.2_Missense_Mutation_p.D423E|ARHGEF12_uc010rzn.1_Missense_Mutation_p.D339E|ARHGEF12_uc009zau.1_Missense_Mutation_p.D339E	p.D442E	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	16	1333	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	442			RGSL.		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.1326T>A	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	T	5.115	0.206913	0.09704	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.81078	-1.45;-1.45;-1.45	5.23	-6.94	0.01633	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.601605	0.14806	N	0.297349	T	0.44767	0.1309	N	0.04116	-0.275	0.32808	D	0.501081	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.12156	0.003;0.004;0.007	T	0.53085	-0.8488	10	0.02654	T	1	-3.1425	3.7705	0.08640	0.2776:0.0598:0.3976:0.2649	.	339;423;442	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	E	442;423;339	ENSP00000380942:D442E;ENSP00000349056:D423E;ENSP00000432984:D339E	ENSP00000349056:D423E	D	+	3	2	ARHGEF12	119821364	0.820000	0.29190	0.986000	0.45419	0.968000	0.65278	-0.298000	0.08265	-0.633000	0.05545	-0.323000	0.08544	GAT		0.353	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		3	86	0	0	0	0	3	86				
ERC1	23085	broad.mit.edu	37	12	1221439	1221439	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr12:1221439A>T	ENST00000397203.2	+	6	1782	c.1376A>T	c.(1375-1377)aAg>aTg	p.K459M	ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.K459M|ERC1_ENST00000543086.3_Intron|ERC1_ENST00000546231.2_Missense_Mutation_p.K459M|ERC1_ENST00000355446.5_Missense_Mutation_p.K459M|ERC1_ENST00000360905.4_Missense_Mutation_p.K459M			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	459					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAGCTGAAAAAGAAAGCGGCT	0.468																																						uc001qjb.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(1375-1377)AAG>ATG		RAB6-interacting protein 2 isoform epsilon							166.0	159.0	162.0					12																	1221439		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1221439A>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1376A>T	12.37:g.1221439A>T	ENSP00000380386:p.Lys459Met					ERC1_uc001qiz.2_Intron|ERC1_uc001qjc.2_Intron|ERC1_uc001qja.2_Intron|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.K459M|ERC1_uc010sdv.1_Intron|ERC1_uc009zdp.2_Missense_Mutation_p.K96M	p.K459M	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		6	1617	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		459			Potential.		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.1376A>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701138	0.68501	.	.	ENSG00000082805	ENST00000397203;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000536573	T;T;T;T	0.78003	-1.14;1.84;-1.14;-1.14	5.38	4.25	0.50352	.	0.556492	0.19713	N	0.107763	T	0.71576	0.3356	N	0.22421	0.69	0.34010	D	0.651297	B;P	0.40266	0.429;0.71	P;P	0.47402	0.494;0.546	T	0.80141	-0.1506	10	0.62326	D	0.03	-22.2394	10.6255	0.45506	0.9248:0.0:0.0752:0.0	.	96;459	F5GZU8;Q8IUD2	.;RB6I2_HUMAN	M	459;459;459;459;96	ENSP00000380386:K459M;ENSP00000442739:K459M;ENSP00000347621:K459M;ENSP00000354158:K459M	ENSP00000347621:K459M	K	+	2	0	ERC1	1091700	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.775000	0.68915	2.050000	0.60909	0.477000	0.44152	AAG		0.468	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		7	127	0	0	0	0	7	127				
CLEC4D	338339	broad.mit.edu	37	12	8672931	8672931	+	Missense_Mutation	SNP	G	G	A	rs201112913	byFrequency	TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr12:8672931G>A	ENST00000299665.2	+	5	687	c.494G>A	c.(493-495)cGc>cAc	p.R165H		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	165	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R165H(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					TTTAACCCACGCAGAGTGTAA	0.418																																						uc001qun.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(493-495)CGC>CAC		C-type lectin domain family 4, member D		G	HIS/ARG	0,4406		0,0,2203	79.0	80.0	80.0		494	-0.9	0.0	12		80	3,8595	3.0+/-9.4	0,3,4296	no	missense	CLEC4D	NM_080387.4	29	0,3,6499	AA,AG,GG		0.0349,0.0,0.0231	benign	165/216	8672931	3,13001	2203	4299	6502	SO:0001583	missense	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8672931G>A	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.494G>A	12.37:g.8672931G>A	ENSP00000299665:p.Arg165His						p.R165H	NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN			5	687	+	Lung SC(5;0.184)		165			C-type lectin.|Extracellular (Potential).		Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	c.494G>A	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	G	0.709	-0.787974	0.02884	0.0	3.49E-4	ENSG00000166527	ENST00000299665	T	0.17370	2.28	4.67	-0.857	0.10693	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.05593	0.0147	N	0.03209	-0.39	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42582	-0.9443	8	.	.	.	.	3.9592	0.09403	0.4108:0.3734:0.2158:0.0	.	165	Q8WXI8	CLC4D_HUMAN	H	165	ENSP00000299665:R165H	.	R	+	2	0	CLEC4D	8564198	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.620000	0.05565	0.039000	0.15632	-0.323000	0.08544	CGC		0.418	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		5	78	0	0	0	0	5	78				
TMPO	7112	broad.mit.edu	37	12	98941400	98941400	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr12:98941400C>T	ENST00000556029.1	+	9	1485	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000343315.5_Missense_Mutation_p.L337F|TMPO_ENST00000393053.2_Missense_Mutation_p.L268F	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	377	Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCATTAGAACTCAGTGATTT	0.428																																						uc001tfj.2		NA																	0				ovary(2)	2						c.(1129-1131)CTC>TTC		thymopoietin isoform beta							62.0	66.0	65.0					12																	98941400		2203	4300	6503	SO:0001583	missense	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98941400C>T		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.1129C>T	12.37:g.98941400C>T	ENSP00000450627:p.Leu377Phe					TMPO_uc001tfk.2_Missense_Mutation_p.L268F|TMPO_uc001tfl.2_RNA	p.L377F	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN			9	1366	+			377			Nucleoplasmic (Potential).		A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.1129C>T	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165247	0.38217	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053;ENST00000556678	T;T;T;T	0.72505	0.24;0.23;-0.1;-0.66	5.59	4.7	0.59300	.	.	.	.	.	T	0.62134	0.2403	L	0.60455	1.87	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.003;0.002	T	0.55302	-0.8162	9	0.09590	T	0.72	.	10.9239	0.47180	0.0:0.8564:0.0:0.1436	.	301;377	Q59G12;P42167	.;LAP2B_HUMAN	F	377;337;268;212	ENSP00000450627:L377F;ENSP00000340251:L337F;ENSP00000376773:L268F;ENSP00000451552:L212F	ENSP00000340251:L377F	L	+	1	0	TMPO	97465531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.355000	0.34068	1.492000	0.48499	0.655000	0.94253	CTC		0.428	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		6	58	0	0	0	0	6	58				
SLC17A8	246213	broad.mit.edu	37	12	100784777	100784777	+	Splice_Site	SNP	A	A	G			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr12:100784777A>G	ENST00000323346.5	+	3	667		c.e3-1		SLC17A8_ENST00000392989.3_Splice_Site	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8						ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCTCATTTCCAGACAGCACAG	0.378																																						uc010svi.1		NA																	0				ovary(3)	3						c.e3-2		solute carrier family 17 (sodium-dependent							128.0	129.0	129.0					12																	100784777		2203	4300	6503	SO:0001630	splice_region_variant	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100784777A>G	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.355-1A>G	12.37:g.100784777A>G						SLC17A8_uc009ztx.2_Splice_Site_p.T119_splice	p.T119_splice	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			3	668	+								B3KXZ6|B7ZKV4|Q17RQ8	Splice_Site	SNP	ENST00000323346.5	37	c.355_splice	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.134970	0.77662	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4565	0.75318	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC17A8	99308908	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.787000	0.91830	2.110000	0.64415	0.533000	0.62120	.		0.378	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319	Intron	8	92	0	0	0	0	8	92				
SKA3	221150	broad.mit.edu	37	13	21729856	21729856	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr13:21729856C>G	ENST00000314759.5	-	8	1338	c.1214G>C	c.(1213-1215)cGa>cCa	p.R405P	SKA3_ENST00000400018.3_Intron	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	405					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTGACATCTCGGATGTTCTG	0.353																																						uc001unt.2		NA																	0					0						c.(1213-1215)CGA>CCA		SKA3							179.0	176.0	177.0					13																	21729856		2203	4300	6503	SO:0001583	missense	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21729856C>G	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.1214G>C	13.37:g.21729856C>G	ENSP00000319417:p.Arg405Pro					SKA3_uc001unv.2_Missense_Mutation_p.R323P|SKA3_uc001unu.2_Intron	p.R405P	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN			8	1308	-			405					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.1214G>C	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517370	0.44763	.	.	ENSG00000165480	ENST00000314759	T	0.24908	1.83	5.13	-4.72	0.03269	.	0.952884	0.08757	N	0.898183	T	0.16981	0.0408	L	0.27053	0.805	0.09310	N	1	B	0.29671	0.254	B	0.35813	0.211	T	0.38156	-0.9674	10	0.38643	T	0.18	1.0006	7.4697	0.27342	0.1132:0.3255:0.0:0.5613	.	405	Q8IX90	SKA3_HUMAN	P	405	ENSP00000319417:R405P	ENSP00000319417:R405P	R	-	2	0	SKA3	20627856	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-2.656000	0.00854	-1.084000	0.03092	-1.006000	0.02489	CGA		0.353	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		8	120	0	0	0	0	8	120				
TMEM55B	90809	broad.mit.edu	37	14	20928987	20928987	+	Missense_Mutation	SNP	C	C	G	rs533957544		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr14:20928987C>G	ENST00000250489.4	-	2	446	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	TMEM55B_ENST00000398020.4_Missense_Mutation_p.E61Q|TMEM55B_ENST00000554028.1_5'Flank			Q86T03	TM55B_HUMAN	transmembrane protein 55B	54	Pro-rich.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		GGATGCCCCTCGGGAAACGGG	0.587																																						uc001vxl.2		NA																	0					0						c.(160-162)GAG>CAG		transmembrane protein 55B isoform 2							63.0	68.0	66.0					14																	20928987		2203	4300	6503	SO:0001583	missense	90809					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr14:20928987C>G	BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"""chromosome 14 open reading frame 9"""	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.160G>C	14.37:g.20928987C>G	ENSP00000250489:p.Glu54Gln					TMEM55B_uc001vxk.2_Missense_Mutation_p.E61Q	p.E54Q	NM_144568	NP_653169	Q86T03	TM55B_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	2	313	-	all_cancers(95;0.00123)	all_lung(585;0.235)	54			Pro-rich.		B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Missense_Mutation	SNP	ENST00000250489.4	37	c.160G>C	CCDS9551.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016698	0.35606	.	.	ENSG00000165782	ENST00000250489;ENST00000398020	.	.	.	4.36	4.36	0.52297	.	0.216036	0.41823	D	0.000805	T	0.34861	0.0912	N	0.19112	0.55	0.80722	D	1	P;B	0.39094	0.659;0.272	B;B	0.34931	0.192;0.058	T	0.16070	-1.0415	9	0.15066	T	0.55	-7.2393	15.8795	0.79193	0.0:1.0:0.0:0.0	.	54;61	Q86T03;Q86T03-2	TM55B_HUMAN;.	Q	54;61	.	ENSP00000250489:E54Q	E	-	1	0	TMEM55B	19998827	0.509000	0.26163	0.992000	0.48379	0.909000	0.53808	1.443000	0.35057	2.258000	0.74832	0.650000	0.86243	GAG		0.587	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073643.3	NM_144568		4	96	0	0	0	0	4	96				
MYH7	4625	broad.mit.edu	37	14	23884264	23884264	+	Silent	SNP	G	G	A	rs3729831		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr14:23884264G>A	ENST00000355349.3	-	37	5661	c.5499C>T	c.(5497-5499)aaC>aaT	p.N1833N	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1833					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCGACTCTGCGTTGCGCTTCT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		19625	0.0		0.001	False		,,,				2504	0.0					uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(5497-5499)AAC>AAT		myosin, heavy chain 7, cardiac muscle, beta		G		0,4406		0,0,2203	122.0	119.0	120.0		5499	-7.6	0.0	14	dbSNP_107	120	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MYH7	NM_000257.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1833/1936	23884264	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884264G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5499C>T	14.37:g.23884264G>A							p.N1833N	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	37	5605	-	all_cancers(95;2.54e-05)		1833			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.5499C>T	CCDS9601.1																																																																																				0.652	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		7	154	0	0	0	0	7	154				
ADCY4	196883	broad.mit.edu	37	14	24788554	24788554	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr14:24788554G>A	ENST00000310677.4	-	23	2935	c.2822C>T	c.(2821-2823)tCt>tTt	p.S941F	ADCY4_ENST00000418030.2_Missense_Mutation_p.S941F|ADCY4_ENST00000554068.2_Missense_Mutation_p.S941F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	941					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATCCTGTCCAGAGGTGGCATT	0.527																																						uc001wov.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(2821-2823)TCT>TTT		adenylate cyclase 4							210.0	161.0	177.0					14																	24788554		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24788554G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2822C>T	14.37:g.24788554G>A	ENSP00000312126:p.Ser941Phe					ADCY4_uc001wow.2_Missense_Mutation_p.S941F|ADCY4_uc010toh.1_Missense_Mutation_p.S627F|ADCY4_uc001wox.2_Missense_Mutation_p.S941F|ADCY4_uc001woy.2_Missense_Mutation_p.S941F	p.S941F	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	22	2828	-			941			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.2822C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785545	0.70337	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.29917	1.55;1.55;1.55	5.77	5.77	0.91146	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.143876	0.32640	N	0.005827	T	0.23611	0.0571	N	0.17872	0.535	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.02498	-1.1150	10	0.36615	T	0.2	.	17.4827	0.87677	0.0:0.0:1.0:0.0	.	941	Q8NFM4	ADCY4_HUMAN	F	941	ENSP00000312126:S941F;ENSP00000452250:S941F;ENSP00000393177:S941F	ENSP00000312126:S941F	S	-	2	0	ADCY4	23858394	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.705000	0.74644	2.704000	0.92352	0.655000	0.94253	TCT		0.527	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			8	78	0	0	0	0	8	78				
SYNE2	23224	broad.mit.edu	37	14	64656947	64656947	+	Silent	SNP	C	C	T	rs145549349		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr14:64656947C>T	ENST00000344113.4	+	99	18242	c.18030C>T	c.(18028-18030)atC>atT	p.I6010I	SYNE2_ENST00000554584.1_Silent_p.I5873I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.I2644I|SYNE2_ENST00000358025.3_Silent_p.I6010I|SYNE2_ENST00000357395.3_Silent_p.I2395I|SYNE2_ENST00000394768.2_Silent_p.I2395I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6010					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGATGTCATCGGATCAAGGT	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		17436	0.001		0.0	False		,,,				2504	0.0					uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(18028-18030)ATC>ATT		spectrin repeat containing, nuclear envelope 2							111.0	94.0	100.0					14																	64656947		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64656947C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18030C>T	14.37:g.64656947C>T						SYNE2_uc001xgl.2_Silent_p.I6010I|SYNE2_uc010apy.2_Silent_p.I2395I|SYNE2_uc001xgn.2_Silent_p.I972I|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Silent_p.I375I	p.I6010I	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	99	18260	+			6010			Spectrin 5.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.18030C>T	CCDS41963.1																																																																																				0.403	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		4	48	0	0	0	0	4	48				
GOLGA6C	653641	broad.mit.edu	37	15	75562493	75562493	+	Missense_Mutation	SNP	C	C	A	rs201864661		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr15:75562493C>A	ENST00000300576.5	+	18	2035	c.2035C>A	c.(2035-2037)Ccg>Acg	p.P679T	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	679						Golgi apparatus (GO:0005794)				ovary(1)	1						TGACAACCCCCCGGTACAGCA	0.602																																						uc002azs.1		NA																	0				ovary(1)	1						c.(1999-2001)CCG>ACG		golgi autoantigen, golgin subfamily a, 6D																																				SO:0001583	missense	653641							g.chr15:75562493C>A		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6C"""				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.2035C>A	15.37:g.75562493C>A	ENSP00000300576:p.Pro679Thr					uc002azu.1_5'Flank|uc010ulz.1_5'Flank	p.P667T	NM_001145224	NP_001138696	A6NDK9	GOG6C_HUMAN			18	2076	+			679						Missense_Mutation	SNP	ENST00000300576.5	37	c.1999C>A	CCDS58388.1	.	.	.	.	.	.	.	.	.	.	-	0.005	-2.235243	0.00277	.	.	ENSG00000167195	ENST00000300576	T	0.12465	2.68	.	.	.	.	.	.	.	.	T	0.01254	0.0041	N	0.00012	-2.95	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.34179	-0.9839	8	0.02654	T	1	.	4.0506	0.09793	0.6453:0.3546:1.0E-4:0.0	.	679	A6NDK9	GOG6C_HUMAN	T	679	ENSP00000300576:P679T	ENSP00000300576:P679T	P	+	1	0	GOLGA6C	73349546	1.000000	0.71417	0.004000	0.12327	0.004000	0.04260	3.804000	0.55568	-1.404000	0.02050	-1.477000	0.00996	CCG		0.602	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		5	107	1	0	1.02e-07	1.14e-07	5	107				
FES	2242	broad.mit.edu	37	15	91433125	91433125	+	Nonsense_Mutation	SNP	C	C	T	rs373882072		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr15:91433125C>T	ENST00000328850.3	+	8	1124	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	FES_ENST00000394300.3_Nonsense_Mutation_p.Q270*|FES_ENST00000414248.2_Nonsense_Mutation_p.Q270*|FES_ENST00000448367.1_3'UTR|FES_ENST00000394302.1_Nonsense_Mutation_p.Q270*|FES_ENST00000444422.2_Nonsense_Mutation_p.Q328*|FES_ENST00000450438.2_Nonsense_Mutation_p.Q270*	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	328					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTTCAGGCGGCAGGAGATGGT	0.637																																						uc002bpv.2		NA																	0				lung(2)	2						c.(982-984)CAG>TAG		feline sarcoma oncogene isoform 1							90.0	93.0	92.0					15																	91433125		2198	4298	6496	SO:0001587	stop_gained	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91433125C>T	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.982C>T	15.37:g.91433125C>T	ENSP00000331504:p.Gln328*					FES_uc010uqj.1_Nonsense_Mutation_p.Q270*|FES_uc010uqk.1_Nonsense_Mutation_p.Q310*|FES_uc002bpw.2_RNA|FES_uc010bny.2_Nonsense_Mutation_p.Q270*|FES_uc002bpx.2_Nonsense_Mutation_p.Q328*|FES_uc002bpy.2_Nonsense_Mutation_p.Q270*	p.Q328*	NM_002005	NP_001996	P07332	FES_HUMAN	Lung(145;0.229)		8	1078	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		328			Potential.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Nonsense_Mutation	SNP	ENST00000328850.3	37	c.982C>T	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683431	0.47991	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	.	.	.	4.8	2.84	0.33178	.	0.175192	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-23.4805	8.9844	0.35986	0.2426:0.6067:0.1507:0.0	.	.	.	.	X	328;270;270;328;270;270	.	ENSP00000331504:Q328X	Q	+	1	0	FES	89234129	1.000000	0.71417	0.978000	0.43139	0.131000	0.20780	1.364000	0.34171	0.580000	0.29522	0.650000	0.86243	CAG		0.637	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		6	142	0	0	0	0	6	142				
KIAA0430	9665	broad.mit.edu	37	16	15718917	15718917	+	Silent	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr16:15718917C>T	ENST00000396368.3	-	9	2273	c.2067G>A	c.(2065-2067)ccG>ccA	p.P689P	KIAA0430_ENST00000551742.1_Silent_p.P688P|KIAA0430_ENST00000540441.2_Silent_p.P546P|KIAA0430_ENST00000548025.1_Silent_p.P686P|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000602337.1_Silent_p.P686P	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	689					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCGAGTTTTTCGGCGTCGACA	0.483																																						uc002ddr.2		NA																	0					0						c.(2065-2067)CCG>CCA		limkain b1							121.0	117.0	118.0					16																	15718917		1957	4164	6121	SO:0001819	synonymous_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15718917C>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2067G>A	16.37:g.15718917C>T						KIAA0430_uc002ddq.2_Silent_p.P545P|KIAA0430_uc010uzv.1_Silent_p.P685P|KIAA0430_uc010uzw.1_Silent_p.P687P	p.P689P	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			9	2260	-			688					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	c.2067G>A	CCDS10562.2																																																																																				0.483	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		12	116	0	0	0	0	12	116				
ZNF821	55565	broad.mit.edu	37	16	71898871	71898871	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr16:71898871T>A	ENST00000565601.1	-	4	654	c.247A>T	c.(247-249)Aaa>Taa	p.K83*	ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000564943.1_Intron|ZNF821_ENST00000313565.6_Nonsense_Mutation_p.K41*|ZNF821_ENST00000446827.2_Nonsense_Mutation_p.K41*|ZNF821_ENST00000425432.1_Nonsense_Mutation_p.K83*|ZNF821_ENST00000564134.1_Nonsense_Mutation_p.K83*	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TTCTCCACTTTGACCACCCCT	0.522																																						uc010vmj.1		NA																	0				ovary(1)	1						c.(247-249)AAA>TAA		zinc finger protein 821							300.0	213.0	242.0					16																	71898871		2198	4300	6498	SO:0001587	stop_gained	55565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71898871T>A	AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.247A>T	16.37:g.71898871T>A	ENSP00000455648:p.Lys83*					ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_5'UTR|ZNF821_uc002fbf.2_Nonsense_Mutation_p.K41*|ZNF821_uc002fbg.3_Intron|ZNF821_uc002fbh.3_Nonsense_Mutation_p.K41*|ZNF821_uc002fbi.3_5'UTR	p.K83*	NM_017530	NP_060000	O75541	ZN821_HUMAN			4	623	-			83					A6NK48|B4DKK4|D3DWS3	Nonsense_Mutation	SNP	ENST00000565601.1	37	c.247A>T	CCDS56006.1	.	.	.	.	.	.	.	.	.	.	T	35	5.441515	0.96187	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	.	.	.	5.76	5.76	0.90799	.	0.122950	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5271	9.6982	0.40169	0.0:0.0769:0.0:0.9231	.	.	.	.	X	83;41;41	.	ENSP00000313822:K41X	K	-	1	0	ZNF821	70456372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.516000	0.53436	2.209000	0.71365	0.533000	0.62120	AAA		0.522	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530		11	124	0	0	0	0	11	124				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)CGT>CAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|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 -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	22	0	0	0	0	7	22				
COASY	80347	broad.mit.edu	37	17	40716511	40716511	+	Silent	SNP	C	C	G			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:40716511C>G	ENST00000393818.2	+	3	1419	c.963C>G	c.(961-963)ctC>ctG	p.L321L	MLX_ENST00000246912.4_5'Flank|MLX_ENST00000435881.2_5'Flank|COASY_ENST00000420359.1_Silent_p.L321L|COASY_ENST00000449624.1_Silent_p.L26L|COASY_ENST00000590958.1_Silent_p.L350L|COASY_ENST00000421097.2_Silent_p.L321L|MLX_ENST00000346833.4_5'Flank|RP11-400F19.8_ENST00000585572.1_RNA	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	321	Phosphopantetheine adenylyltransferase.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TGAAGGACCTCAGACATACAG	0.527																																						uc002hzz.2		NA																	0					0						c.(961-963)CTC>CTG		coenzyme A synthase isoform a							71.0	71.0	71.0					17																	40716511		2203	4300	6503	SO:0001819	synonymous_variant	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40716511C>G	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.963C>G	17.37:g.40716511C>G						COASY_uc010cyj.2_Silent_p.L350L|COASY_uc002iab.2_Silent_p.L26L|COASY_uc002iad.2_Silent_p.L321L|COASY_uc002iac.2_Silent_p.L321L|COASY_uc002iae.2_Silent_p.L116L|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank	p.L321L	NM_001042529	NP_001035994	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	4	1120	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	321			Phosphopantetheine adenylyltransferase.		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	ENST00000393818.2	37	c.963C>G	CCDS11429.1																																																																																				0.527	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		4	70	0	0	0	0	4	70				
TTLL6	284076	broad.mit.edu	37	17	46847448	46847448	+	Silent	SNP	G	G	A	rs199679267	byFrequency	TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:46847448G>A	ENST00000393382.3	-	14	2193	c.2052C>T	c.(2050-2052)tcC>tcT	p.S684S	TTLL6_ENST00000433608.2_Silent_p.S377S	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGTTTCTACGGAGGTTAAGT	0.458													G|||	3	0.000599042	0.0	0.0	5008	,	,		16900	0.003		0.0	False		,,,				2504	0.0					uc010wlo.1		NA																	0					0						c.(2050-2052)TCC>TCT		tubulin tyrosine ligase-like family, member 6							62.0	71.0	68.0					17																	46847448		2202	4299	6501	SO:0001819	synonymous_variant	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46847448G>A	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2052C>T	17.37:g.46847448G>A						TTLL6_uc002iob.2_Silent_p.S377S|TTLL6_uc010dbi.2_Intron|TTLL6_uc002ioc.2_Silent_p.S437S|TTLL6_uc002iod.2_Intron	p.S684S	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN			15	2087	-			636						Silent	SNP	ENST00000393382.3	37	c.2052C>T	CCDS45724.1																																																																																				0.458	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		8	91	0	0	0	0	8	91				
CHAD	1101	broad.mit.edu	37	17	48545610	48545610	+	Missense_Mutation	SNP	C	C	G	rs147638039	byFrequency	TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:48545610C>G	ENST00000508540.1	-	1	717	c.565G>C	c.(565-567)Ggg>Cgg	p.G189R	ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.G189R|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000541920.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	189					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCCAGGGCCCCGGGCTGCAGG	0.637													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19467	0.0		0.0	False		,,,				2504	0.0					uc010dbr.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(565-567)GGG>CGG		chondroadherin precursor		C	ARG/GLY,	1,4405	2.1+/-5.4	0,1,2202	75.0	83.0	80.0		565,	3.8	0.0	17	dbSNP_134	80	2,8598	1.2+/-3.3	0,2,4298	yes	missense,intron	CHAD,ACSF2	NM_001267.2,NM_025149.4	125,	0,3,6500	GG,GC,CC		0.0233,0.0227,0.0231	possibly-damaging,	189/360,	48545610	3,13003	2203	4300	6503	SO:0001583	missense	1101				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr17:48545610C>G	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.565G>C	17.37:g.48545610C>G	ENSP00000423812:p.Gly189Arg					ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.G189R|ACSF2_uc010dbt.1_5'Flank	p.G189R	NM_001267	NP_001258	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		1	618	-	Breast(11;1.93e-18)		189			LRR 5.		A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	c.565G>C	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095558	0.56075	2.27E-4	2.33E-4	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.58210	0.35;0.35	4.77	3.8	0.43715	.	0.051881	0.85682	D	0.000000	T	0.63827	0.2544	L	0.49699	1.58	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	T	0.61257	-0.7099	10	0.33141	T	0.24	.	12.9158	0.58205	0.0:0.922:0.0:0.078	.	189	O15335	CHAD_HUMAN	R	189	ENSP00000423812:G189R;ENSP00000258969:G189R	ENSP00000258969:G189R	G	-	1	0	CHAD	45900609	0.995000	0.38212	0.032000	0.17829	0.467000	0.32768	4.703000	0.61824	1.234000	0.43709	0.563000	0.77884	GGG		0.637	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		3	113	0	0	0	0	3	113				
AXIN2	8313	broad.mit.edu	37	17	63554319	63554319	+	Silent	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr17:63554319C>T	ENST00000375702.5	-	1	528	c.420G>A	c.(418-420)gaG>gaA	p.E140E	AXIN2_ENST00000307078.5_Silent_p.E140E|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	140	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TGCTGTTGTTCTCAATGTACC	0.453									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(418-420)GAG>GAA		axin 2							323.0	277.0	293.0					17																	63554319		2203	4300	6503	SO:0001819	synonymous_variant	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63554319C>T	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.420G>A	17.37:g.63554319C>T						AXIN2_uc010den.1_Silent_p.E140E|AXIN2_uc002jfh.2_Silent_p.E140E|AXIN2_uc002jfj.1_Silent_p.E140E	p.E140E	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			2	709	-			140			RGS.		Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37	c.420G>A																																																																																					0.453	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		6	176	0	0	0	0	6	176				
ACTL9	284382	broad.mit.edu	37	19	8808007	8808007	+	Missense_Mutation	SNP	C	C	T	rs554190823	byFrequency	TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr19:8808007C>T	ENST00000324436.3	-	1	1165	c.1045G>A	c.(1045-1047)Ggc>Agc	p.G349S		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	349						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCTCGAAGCCGGTGAAGAGC	0.637													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15522	0.0		0.0	False		,,,				2504	0.001					uc002mkl.2		NA																	0				large_intestine(2)|pancreas(1)	3						c.(1045-1047)GGC>AGC		actin-like 9							28.0	29.0	29.0					19																	8808007		2193	4277	6470	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808007C>T		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1045G>A	19.37:g.8808007C>T	ENSP00000316674:p.Gly349Ser						p.G349S	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			1	1166	-			349					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.1045G>A	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	c	16.14	3.037537	0.54896	.	.	ENSG00000181786	ENST00000324436	T	0.16457	2.34	4.58	3.53	0.40419	.	0.150992	0.30201	U	0.010162	T	0.43456	0.1248	M	0.91663	3.23	0.36138	D	0.846581	D	0.71674	0.998	P	0.58520	0.84	T	0.64782	-0.6326	10	0.87932	D	0	.	12.1493	0.54042	0.0:0.9143:0.0:0.0857	.	349	Q8TC94	ACTL9_HUMAN	S	349	ENSP00000316674:G349S	ENSP00000316674:G349S	G	-	1	0	ACTL9	8669007	0.999000	0.42202	0.013000	0.15412	0.027000	0.11550	6.497000	0.73674	1.278000	0.44430	0.457000	0.33378	GGC		0.637	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		4	38	0	0	0	0	4	38				
DPF1	8193	broad.mit.edu	37	19	38704349	38704349	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr19:38704349G>A	ENST00000420980.2	-	9	921	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	DPF1_ENST00000355526.4_Missense_Mutation_p.R343W|DPF1_ENST00000456296.1_Missense_Mutation_p.R317W|DPF1_ENST00000416611.1_Missense_Mutation_p.R317W|DPF1_ENST00000412732.1_Missense_Mutation_p.R261W|DPF1_ENST00000414789.1_Missense_Mutation_p.R261W	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	299					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGTAGGTCCGCACGGCTGCC	0.667																																						uc002ohl.2		NA																	0					0						c.(895-897)CGG>TGG		D4, zinc and double PHD fingers family 1 isoform							60.0	55.0	57.0					19																	38704349		2203	4300	6503	SO:0001583	missense	8193				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38704349G>A	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.895C>T	19.37:g.38704349G>A	ENSP00000397354:p.Arg299Trp					DPF1_uc002ohm.2_Missense_Mutation_p.R343W|DPF1_uc002ohn.2_Missense_Mutation_p.R261W|DPF1_uc010xtu.1_Missense_Mutation_p.R317W|DPF1_uc010xtv.1_Missense_Mutation_p.R317W	p.R299W	NM_004647	NP_004638	Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	922	-	all_cancers(60;1.24e-06)		299			PHD-type 1.		B3KSY8|Q08AJ0	Missense_Mutation	SNP	ENST00000420980.2	37	c.895C>T	CCDS33008.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.45|17.45	3.393285|3.393285	0.62066|0.62066	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000355526|ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296	.|D;D;D;D;D	.|0.87729	.|-2.29;-2.29;-2.29;-2.29;-2.29	4.05|4.05	1.72|1.72	0.24424|0.24424	.|Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.|0.000000	.|0.56097	.|U	.|0.000027	D|D	0.91666|0.91666	0.7366|0.7366	M|M	0.72353|0.72353	2.195|2.195	0.40899|0.40899	D|D	0.984138|0.984138	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.999	.|D;D;D;D;D	.|0.87578	.|0.998;0.985;0.992;0.981;0.981	D|D	0.92178|0.92178	0.5749|0.5749	5|10	.|0.87932	.|D	.|0	-15.831|-15.831	12.4279|12.4279	0.55557|0.55557	0.0:0.0:0.6877:0.3123|0.0:0.0:0.6877:0.3123	.|.	.|317;316;343;343;299	.|E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782	.|.;.;.;.;DPF1_HUMAN	V|W	335|299;343;261;317;261;317	.|ENSP00000397354:R299W;ENSP00000412098:R261W;ENSP00000390223:R317W;ENSP00000391884:R261W;ENSP00000411569:R317W	.|ENSP00000412098:R261W	A|R	-|-	2|1	0|2	DPF1|DPF1	43396189|43396189	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	0.802000|0.802000	0.27069|0.27069	0.897000|0.897000	0.36392|0.36392	-0.493000|-0.493000	0.04662|0.04662	GCG|CGG		0.667	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			4	65	0	0	0	0	4	65				
PRKCE	5581	broad.mit.edu	37	2	46203655	46203655	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr2:46203655T>G	ENST00000306156.3	+	3	827	c.500T>G	c.(499-501)gTc>gGc	p.V167G		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	167					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	GTCCATCAGGTCAACGGCCAC	0.577																																						uc002rut.2		NA																	0				lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10						c.(499-501)GTC>GGC		protein kinase C, epsilon							68.0	76.0	73.0					2																	46203655		2189	4289	6478	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46203655T>G		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.500T>G	2.37:g.46203655T>G	ENSP00000306124:p.Val167Gly						p.V167G	NM_005400	NP_005391	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		3	697	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	167					B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.500T>G	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.685321	0.88639	.	.	ENSG00000171132	ENST00000306156	D	0.84944	-1.92	4.47	4.47	0.54385	Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.89972	0.6870	M	0.79011	2.435	0.80722	D	1	P	0.52061	0.95	P	0.55667	0.781	D	0.91559	0.5263	10	0.87932	D	0	.	14.2111	0.65764	0.0:0.0:0.0:1.0	.	167	Q02156	KPCE_HUMAN	G	167	ENSP00000306124:V167G	ENSP00000306124:V167G	V	+	2	0	PRKCE	46057159	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.775000	0.85489	2.004000	0.58718	0.460000	0.39030	GTC		0.577	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			6	72	0	0	0	0	6	72				
XIRP2	129446	broad.mit.edu	37	2	168100193	168100193	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr2:168100193A>G	ENST00000409195.1	+	9	2380	c.2291A>G	c.(2290-2292)aAg>aGg	p.K764R	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K542R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K764R|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	589					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GACGTTGAAAAGGGAGATGTA	0.373																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(2290-2292)AAG>AGG		xin actin-binding repeat containing 2 isoform 1							73.0	67.0	69.0					2																	168100193		1860	4088	5948	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100193A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2291A>G	2.37:g.168100193A>G	ENSP00000386840:p.Lys764Arg					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K589R|XIRP2_uc010fpq.2_Missense_Mutation_p.K542R|XIRP2_uc010fpr.2_Intron	p.K764R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2309	+			589					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2291A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	8.723	0.914857	0.17907	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02890	4.12;4.12;4.12	5.92	2.12	0.27331	.	0.099107	0.64402	N	0.000003	T	0.02688	0.0081	L	0.35341	1.055	0.38741	D	0.953889	B;B;B	0.26445	0.149;0.037;0.037	B;B;B	0.24006	0.05;0.024;0.024	T	0.50725	-0.8794	10	0.48119	T	0.1	-11.7387	9.248	0.37539	0.7015:0.0:0.2985:0.0	.	589;589;542	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	764;764;542	ENSP00000386840:K764R;ENSP00000295237:K764R;ENSP00000387255:K542R	ENSP00000295237:K764R	K	+	2	0	XIRP2	167808439	0.008000	0.16893	0.998000	0.56505	0.872000	0.50106	0.034000	0.13776	0.934000	0.37316	0.528000	0.53228	AAG		0.373	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		3	60	0	0	0	0	3	60				
CSRP2BP	57325	broad.mit.edu	37	20	18123449	18123449	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr20:18123449G>A	ENST00000435364.3	+	1	486	c.145G>A	c.(145-147)Gac>Aac	p.D49N	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.D49N|PET117_ENST00000432901.3_3'UTR|CSRP2BP_ENST00000489634.2_5'Flank	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	49					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GGCATCAGTGGACTTATCGCA	0.537																																						uc002wqj.2		NA																	0				lung(3)|ovary(2)|skin(1)	6						c.(145-147)GAC>AAC		CSRP2 binding protein							194.0	134.0	154.0					20																	18123449		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18123449G>A	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.145G>A	20.37:g.18123449G>A	ENSP00000392318:p.Asp49Asn					CSRP2BP_uc002wqk.2_5'Flank	p.D49N	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN			2	767	+			49					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.145G>A	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278472	0.80692	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000464792;ENST00000435364	T;T;T	0.18960	2.18;2.18;2.18	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	L	0.43152	1.355	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.10683	-1.0619	10	0.59425	D	0.04	-21.8667	19.6275	0.95684	0.0:0.0:1.0:0.0	.	49	Q9H8E8	CSR2B_HUMAN	N	49	ENSP00000278816:D49N;ENSP00000366909:D49N;ENSP00000392318:D49N	ENSP00000278816:D49N	D	+	1	0	CSRP2BP	18071449	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	9.159000	0.94728	2.723000	0.93209	0.563000	0.77884	GAC		0.537	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		4	83	0	0	0	0	4	83				
DGCR2	9993	broad.mit.edu	37	22	19028791	19028791	+	Silent	SNP	G	G	A	rs372212591		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr22:19028791G>A	ENST00000263196.7	-	9	1423	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Silent_p.L351L	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	392					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					TCCTGCGGCCGAGGTTGAAGT	0.627																																						uc002zoq.1		NA																	0				large_intestine(1)	1						c.(1174-1176)CTC>CTT		integral membrane protein DGCR2 precursor		G	,,,	2,4404	4.2+/-10.8	0,2,2201	69.0	70.0	70.0		1053,1044,1167,1176	-11.1	0.8	22		70	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DGCR2	NM_001173533.1,NM_001173534.1,NM_001184781.1,NM_005137.2	,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,	351/510,348/507,389/548,392/551	19028791	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19028791G>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1176C>T	22.37:g.19028791G>A						DGCR2_uc002zor.1_Silent_p.L168L|DGCR2_uc011agr.1_Silent_p.L348L	p.L392L	NM_005137	NP_005128	P98153	IDD_HUMAN			9	1424	-	Colorectal(54;0.0993)		392			Cytoplasmic (Potential).		A6NIB5|A8K6K5|B5TY34|B7Z935	Silent	SNP	ENST00000263196.7	37	c.1176C>T	CCDS33598.1																																																																																				0.627	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		5	47	0	0	0	0	5	47				
EIF3D	8664	broad.mit.edu	37	22	36916654	36916654	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr22:36916654G>A	ENST00000216190.8	-	7	917	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	EIF3D_ENST00000405442.1_Missense_Mutation_p.R183C|EIF3D_ENST00000541106.1_Missense_Mutation_p.R134C	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TCCAAGTAGCGCATCTTCATC	0.428																																						uc003apq.2		NA																	0				pancreas(1)	1						c.(547-549)CGC>TGC		eukaryotic translation initiation factor 3							144.0	115.0	125.0					22																	36916654		2203	4300	6503	SO:0001583	missense	8664					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:36916654G>A	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.547C>T	22.37:g.36916654G>A	ENSP00000216190:p.Arg183Cys					EIF3D_uc011amr.1_Missense_Mutation_p.R10C|EIF3D_uc003apr.2_Missense_Mutation_p.R183C|EIF3D_uc011ams.1_Missense_Mutation_p.R86C|EIF3D_uc011amt.1_Missense_Mutation_p.R134C	p.R183C	NM_003753	NP_003744	O15371	EIF3D_HUMAN			7	663	-			183						Missense_Mutation	SNP	ENST00000216190.8	37	c.547C>T	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709082	0.68615	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000455547	.	.	.	5.84	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	L	0.57536	1.79	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.59595	0.86;0.86	T	0.72178	-0.4369	9	0.62326	D	0.03	-5.9847	14.7134	0.69249	0.0:0.0:0.7359:0.2641	.	134;183	B4DVY1;O15371	.;EIF3D_HUMAN	C	183;168;134;183;183	.	ENSP00000216190:R183C	R	-	1	0	EIF3D	35246600	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.574000	0.53863	1.465000	0.48006	0.561000	0.74099	CGC		0.428	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			3	46	0	0	0	0	3	46				
CARD10	29775	broad.mit.edu	37	22	37891803	37891803	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr22:37891803C>T	ENST00000403299.1	-	15	2483	c.2267G>A	c.(2266-2268)cGg>cAg	p.R756Q	CARD10_ENST00000251973.5_Missense_Mutation_p.R756Q|CARD10_ENST00000406271.3_Missense_Mutation_p.R470Q			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	756					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GTCCAGGTCCCGCAGAGTGAG	0.642																																						uc003asx.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6						c.(2266-2268)CGG>CAG		caspase recruitment domain protein 10							44.0	41.0	42.0					22																	37891803		2203	4300	6503	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37891803C>T	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2267G>A	22.37:g.37891803C>T	ENSP00000384570:p.Arg756Gln					CARD10_uc003ast.1_RNA|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_Missense_Mutation_p.R74Q|CARD10_uc003asw.1_Missense_Mutation_p.R470Q|CARD10_uc003asy.1_Missense_Mutation_p.R756Q	p.R756Q	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN			14	2270	-	Melanoma(58;0.0574)		756					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.2267G>A	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561682	0.86335	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756	T;T;T;T	0.41758	0.99;2.66;0.99;1.41	4.98	4.98	0.66077	.	0.070349	0.56097	D	0.000021	T	0.56262	0.1973	L	0.43152	1.355	0.29411	N	0.861207	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.928	T	0.53380	-0.8447	10	0.36615	T	0.2	-17.9162	16.4258	0.83814	0.0:1.0:0.0:0.0	.	756;470	Q9BWT7;Q8NC81	CAR10_HUMAN;.	Q	756;470;756;397	ENSP00000384570:R756Q;ENSP00000385799:R470Q;ENSP00000251973:R756Q;ENSP00000416239:R397Q	ENSP00000251973:R756Q	R	-	2	0	CARD10	36221749	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	2.123000	0.41996	2.289000	0.77006	0.561000	0.74099	CGG		0.642	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		6	32	0	0	0	0	6	32				
TTLL3	26140	broad.mit.edu	37	3	9860559	9860559	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr3:9860559G>C	ENST00000547186.1	+	6	700	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	TTLL3_ENST00000430793.1_5'Flank|ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000455274.1_5'Flank|TTLL3_ENST00000426895.4_Missense_Mutation_p.E305Q|TTLL3_ENST00000427853.3_5'UTR|TTLL3_ENST00000383827.1_5'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	162	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GGTGAAGTCTGAGTGGAAGTC	0.577																																						uc003btg.2		NA																	0				large_intestine(2)	2						c.(484-486)GAG>CAG		tubulin tyrosine ligase-like family, member 3							198.0	202.0	201.0					3																	9860559		2071	4209	6280	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9860559G>C		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.484G>C	3.37:g.9860559G>C	ENSP00000446659:p.Glu162Gln					ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Intron|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_Missense_Mutation_p.E98Q|TTLL3_uc003bth.3_5'UTR|TTLL3_uc011atj.1_Missense_Mutation_p.E98Q|TTLL3_uc003btj.3_5'UTR|TTLL3_uc003bti.3_5'UTR	p.E162Q	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN			6	700	+	Medulloblastoma(99;0.227)		162			TTL.		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.484G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.74|10.74	1.434955|1.434955	0.25813|0.25813	.|.	.|.	ENSG00000214021|ENSG00000214021	ENST00000426895;ENST00000547186;ENST00000422738;ENST00000443148|ENST00000310252	T;T;T;T|.	0.32515|.	3.59;3.7;1.45;3.7|.	4.52|4.52	1.49|1.49	0.22878|0.22878	.|.	1.528260|.	0.04699|.	U|.	0.415471|.	T|.	0.23054|.	0.0557|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.31241|.	0.014;0.315|.	B;B|.	0.26517|.	0.017;0.07|.	T|.	0.22103|.	-1.0226|.	9|.	0.30854|.	T|.	0.27|.	.|.	2.5943|2.5943	0.04850|0.04850	0.1788:0.1418:0.5339:0.1455|0.1788:0.1418:0.5339:0.1455	.|.	101;162|.	B4DM47;Q9Y4R7|.	.;TTLL3_HUMAN|.	Q|S	305;162;147;100|117	ENSP00000392549:E305Q;ENSP00000446659:E162Q;ENSP00000412915:E147Q;ENSP00000398097:E100Q|.	ENSP00000412915:E147Q|.	E|X	+|+	1|2	0|2	TTLL3|TTLL3	9835559|9835559	0.006000|0.006000	0.16342|0.16342	0.001000|0.001000	0.08648|0.08648	0.984000|0.984000	0.73092|0.73092	0.604000|0.604000	0.24164|0.24164	0.161000|0.161000	0.19458|0.19458	0.484000|0.484000	0.47621|0.47621	GAG|TGA		0.577	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		6	173	0	0	0	0	6	173				
JAKMIP1	152789	broad.mit.edu	37	4	6083476	6083476	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr4:6083476G>A	ENST00000282924.5	-	6	1446	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R156C|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R321C|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R156C|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R321C	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	321	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTCGTGAGCGTTTCAGCTGT	0.542																																						uc003giu.3		NA																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(961-963)CGC>TGC		janus kinase and microtubule interacting protein							89.0	88.0	88.0					4																	6083476		2203	4300	6503	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6083476G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.961C>T	4.37:g.6083476G>A	ENSP00000282924:p.Arg321Cys					JAKMIP1_uc010idb.1_Missense_Mutation_p.R321C|JAKMIP1_uc010idc.1_Missense_Mutation_p.R156C|JAKMIP1_uc010idd.1_Missense_Mutation_p.R321C|JAKMIP1_uc011bwc.1_Missense_Mutation_p.R156C|JAKMIP1_uc003giv.3_Missense_Mutation_p.R321C|JAKMIP1_uc010ide.2_Missense_Mutation_p.R321C	p.R321C	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			6	1237	-			321			Potential.|Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.961C>T	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600087	0.87055	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.40756	1.34;1.06;1.34;1.34;1.02	4.41	4.41	0.53225	.	0.000000	0.64402	D	0.000004	T	0.66781	0.2824	M	0.79926	2.475	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999	D;P;D;D;P	0.85130	0.996;0.855;0.996;0.997;0.855	T	0.73398	-0.3995	10	0.87932	D	0	.	16.3932	0.83546	0.0:0.0:1.0:0.0	.	156;321;156;321;321	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	C	321;156;321;321;213;321;321;156	ENSP00000386711:R321C;ENSP00000387042:R156C;ENSP00000282924:R321C;ENSP00000386925:R321C;ENSP00000386745:R156C	ENSP00000282924:R321C	R	-	1	0	JAKMIP1	6134377	1.000000	0.71417	0.995000	0.50966	0.897000	0.52465	9.077000	0.94016	2.185000	0.69588	0.555000	0.69702	CGC		0.542	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		6	70	0	0	0	0	6	70				
ANK2	287	broad.mit.edu	37	4	114290865	114290865	+	Silent	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr4:114290865G>A	ENST00000357077.4	+	43	11567	c.11514G>A	c.(11512-11514)gaG>gaA	p.E3838E	ANK2_ENST00000264366.6_Silent_p.E3805E|ANK2_ENST00000510275.2_Silent_p.E405E|ANK2_ENST00000509550.1_Silent_p.E929E|ANK2_ENST00000394537.3_Silent_p.E1753E|ANK2_ENST00000506722.1_Silent_p.E1744E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3838					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACAGAGAGGAGAGCTCTCCGC	0.542																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(11512-11514)GAG>GAA		ankyrin 2 isoform 1							78.0	72.0	74.0					4																	114290865		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114290865G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11514G>A	4.37:g.114290865G>A						ANK2_uc003ibd.3_Silent_p.E1744E|ANK2_uc003ibf.3_Silent_p.E1753E|ANK2_uc011cgc.1_Silent_p.E929E|ANK2_uc003ibg.3_Silent_p.E737E|ANK2_uc003ibh.3_Silent_p.E427E|ANK2_uc011cgd.1_Silent_p.E1140E	p.E3838E	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	43	11614	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3805					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.11514G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	3.948	-0.012835	0.07727	.	.	ENSG00000145362	ENST00000514960	T	0.76316	-1.01	5.55	1.46	0.22682	.	0.669147	0.13314	N	0.397231	T	0.68081	0.2962	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.55535	-0.8126	7	0.29301	T	0.29	.	7.2032	0.25893	0.0652:0.355:0.4357:0.1442	.	.	.	.	K	755	ENSP00000422853:E755K	ENSP00000422853:E755K	E	+	1	0	ANK2	114510314	0.000000	0.05858	0.035000	0.18076	0.057000	0.15508	-0.252000	0.08806	0.320000	0.23234	0.650000	0.86243	GAG		0.542	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		7	47	0	0	0	0	7	47				
FAT4	79633	broad.mit.edu	37	4	126241841	126241841	+	Silent	SNP	T	T	C			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr4:126241841T>C	ENST00000394329.3	+	1	4288	c.4275T>C	c.(4273-4275)atT>atC	p.I1425I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1425	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGGAGATATTTTCAAGTCTA	0.423																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(4273-4275)ATT>ATC		FAT tumor suppressor homolog 4 precursor							139.0	130.0	133.0					4																	126241841		1876	4110	5986	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241841T>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4275T>C	4.37:g.126241841T>C							p.I1425I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	4275	+			1425			Cadherin 14.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.4275T>C	CCDS3732.3																																																																																				0.423	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		3	157	0	0	0	0	3	157				
DNAH5	1767	broad.mit.edu	37	5	13692178	13692178	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr5:13692178T>C	ENST00000265104.4	-	79	13894	c.13790A>G	c.(13789-13791)tAc>tGc	p.Y4597C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4597					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCGGCAATGTAGTTCAAGTC	0.483									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(13789-13791)TAC>TGC		dynein, axonemal, heavy chain 5							117.0	107.0	111.0					5																	13692178		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13692178T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13790A>G	5.37:g.13692178T>C	ENSP00000265104:p.Tyr4597Cys					DNAH5_uc003jfc.2_Missense_Mutation_p.Y765C	p.Y4597C	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			79	13832	-	Lung NSC(4;0.00476)		4597					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13790A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981153	0.74474	.	.	ENSG00000039139	ENST00000265104	T	0.09911	2.93	5.76	4.57	0.56435	Dynein heavy chain (1);	0.125025	0.56097	D	0.000033	T	0.44932	0.1317	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.59473	-0.7448	10	0.87932	D	0	.	12.1342	0.53961	0.1286:0.0:0.0:0.8714	.	4597	Q8TE73	DYH5_HUMAN	C	4597	ENSP00000265104:Y4597C	ENSP00000265104:Y4597C	Y	-	2	0	DNAH5	13745178	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.394000	0.52551	0.976000	0.38417	0.528000	0.53228	TAC		0.483	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	76	0	0	0	0	4	76				
TDRD6	221400	broad.mit.edu	37	6	46661019	46661019	+	Silent	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr6:46661019G>A	ENST00000316081.6	+	1	5154	c.5154G>A	c.(5152-5154)caG>caA	p.Q1718Q	TDRD6_ENST00000544460.1_Silent_p.Q1718Q	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1718					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGATAAAGCAGACTCTTGGGT	0.318																																						uc003oyj.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(5152-5154)CAG>CAA		tudor domain containing 6							31.0	37.0	35.0					6																	46661019		2156	4274	6430	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46661019G>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5154G>A	6.37:g.46661019G>A						TDRD6_uc010jze.2_Silent_p.Q1712Q	p.Q1718Q	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	5154	+			1718					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.5154G>A	CCDS34470.1																																																																																				0.318	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		3	59	0	0	0	0	3	59				
NAPEPLD	222236	broad.mit.edu	37	7	102760426	102760426	+	Missense_Mutation	SNP	G	G	A	rs367936558		TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr7:102760426G>A	ENST00000417955.1	-	3	693	c.539C>T	c.(538-540)gCg>gTg	p.A180V	NAPEPLD_ENST00000455523.2_Missense_Mutation_p.A253V|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.A180V|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.A180V|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.A180V			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	180					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GATAAGGACCGCATCTATTGG	0.463																																						uc003vbc.2		NA																	0				skin(1)	1						c.(538-540)GCG>GTG		N-acyl phosphatidylethanolamine phospholipase D		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	227.0	211.0	216.0		539,539	5.1	0.1	7		216	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NAPEPLD	NM_001122838.1,NM_198990.4	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	180/394,180/394	102760426	1,13005	2203	4300	6503	SO:0001583	missense	222236				phospholipid catabolic process	membrane	metal ion binding	g.chr7:102760426G>A	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.539C>T	7.37:g.102760426G>A	ENSP00000407112:p.Ala180Val					NAPEPLD_uc003vbd.2_Missense_Mutation_p.A180V|NAPEPLD_uc011klj.1_Missense_Mutation_p.A253V|NAPEPLD_uc003vbe.2_RNA	p.A180V	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN			3	867	-			180					Q5CZ87|Q769K1	Missense_Mutation	SNP	ENST00000417955.1	37	c.539C>T	CCDS5729.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.764953	0.69878	0.0	1.16E-4	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523	D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1	5.93	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	L	0.48642	1.525	0.80722	D	1	P;P	0.42248	0.774;0.604	P;B	0.44990	0.466;0.131	D	0.88523	0.3097	10	0.25751	T	0.34	-15.5937	15.3142	0.74059	0.0671:0.0:0.9329:0.0	.	253;180	B4E3B0;Q6IQ20	.;NAPEP_HUMAN	V	180;180;180;180;253	ENSP00000340093:A180V;ENSP00000407112:A180V;ENSP00000419188:A180V;ENSP00000392775:A180V;ENSP00000414364:A253V	ENSP00000340093:A180V	A	-	2	0	NAPEPLD	102547662	1.000000	0.71417	0.069000	0.20011	0.812000	0.45895	6.752000	0.74898	1.521000	0.48983	0.591000	0.81541	GCG		0.463	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990		4	157	0	0	0	0	4	157				
PAPPA	5069	broad.mit.edu	37	9	119124919	119124919	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr9:119124919G>A	ENST00000328252.3	+	18	4765	c.4396G>A	c.(4396-4398)Ggc>Agc	p.G1466S	PAPPA_ENST00000534838.1_Missense_Mutation_p.G504S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1466	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACCTGGAACGGCTCCTTCCA	0.532																																						uc004bjn.2		NA																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(4396-4398)GGC>AGC		pregnancy-associated plasma protein A							109.0	97.0	101.0					9																	119124919		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119124919G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4396G>A	9.37:g.119124919G>A	ENSP00000330658:p.Gly1466Ser					PAPPA_uc011lxq.1_Missense_Mutation_p.G841S	p.G1466S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			18	4777	+			1466			Sushi 4.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.4396G>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122491	0.77436	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.64618	-0.11;-0.11	5.39	5.39	0.77823	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.78861	0.4350	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.74791	-0.3545	10	0.23302	T	0.38	-26.8563	19.1614	0.93533	0.0:0.0:1.0:0.0	.	504;1466	F5GZ19;Q13219	.;PAPP1_HUMAN	S	1466;504	ENSP00000330658:G1466S;ENSP00000441461:G504S	ENSP00000330658:G1466S	G	+	1	0	PAPPA	118164740	1.000000	0.71417	0.995000	0.50966	0.697000	0.40408	8.949000	0.93012	2.530000	0.85305	0.655000	0.94253	GGC		0.532	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		4	104	0	0	0	0	4	104				
BEND2	139105	broad.mit.edu	37	X	18195820	18195820	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chrX:18195820G>A	ENST00000380033.4	-	10	1631	c.1499C>T	c.(1498-1500)gCc>gTc	p.A500V	BEND2_ENST00000380030.3_Missense_Mutation_p.A409V	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	500	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTTAGGTTTGGCCATATTTTG	0.393																																						uc004cyj.3		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1498-1500)GCC>GTC		BEN domain containing 2							257.0	242.0	247.0					X																	18195820		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18195820G>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1499C>T	X.37:g.18195820G>A	ENSP00000369372:p.Ala500Val					BEND2_uc010nfb.2_Missense_Mutation_p.A409V	p.A500V	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			10	1653	-			500			BEN 1.		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1499C>T	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785379	0.31593	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.31247	1.5;1.62	5.39	1.29	0.21616	BEN domain (1);	2.972180	0.02310	N	0.072020	T	0.27278	0.0669	L	0.44542	1.39	0.09310	N	1	P;P	0.35383	0.498;0.498	B;B	0.33454	0.164;0.164	T	0.16364	-1.0405	10	0.56958	D	0.05	3.2649	4.7315	0.12966	0.0843:0.2632:0.514:0.1385	.	409;500	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	V	500;409	ENSP00000369372:A500V;ENSP00000369369:A409V	ENSP00000369369:A409V	A	-	2	0	BEND2	18105741	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.077000	0.14738	-0.167000	0.10871	-0.380000	0.06706	GCC		0.393	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		4	183	0	0	0	0	4	183				
RBM10	8241	broad.mit.edu	37	X	47045133	47045133	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chrX:47045133C>T	ENST00000377604.3	+	21	3116	c.2374C>T	c.(2374-2376)Cgg>Tgg	p.R792W	RBM10_ENST00000329236.7_Missense_Mutation_p.R714W|RBM10_ENST00000345781.6_Missense_Mutation_p.R715W	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	792					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGAGATTCACCGGCGAGCCCA	0.572																																					Melanoma(171;120 2705 19495 39241)	uc004dhf.2		NA																	0				ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(2374-2376)CGG>TGG		RNA binding motif protein 10 isoform 1							79.0	67.0	71.0					X																	47045133		2203	4300	6503	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47045133C>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2374C>T	X.37:g.47045133C>T	ENSP00000366829:p.Arg792Trp					RBM10_uc004dhg.2_Missense_Mutation_p.R714W|RBM10_uc004dhh.2_Missense_Mutation_p.R791W|RBM10_uc010nhq.2_Missense_Mutation_p.R715W|RBM10_uc004dhi.2_Missense_Mutation_p.R857W	p.R792W	NM_005676	NP_005667	P98175	RBM10_HUMAN			21	2753	+			792					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.2374C>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800372	0.50315	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.21543	2.67;2.0;2.27	5.13	3.25	0.37280	.	0.000000	0.64402	D	0.000006	T	0.44477	0.1295	M	0.77820	2.39	0.35022	D	0.757941	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;P	0.79108	0.992;0.976;0.99;0.984;0.856	T	0.57957	-0.7721	10	0.87932	D	0	-22.9536	10.4775	0.44674	0.5114:0.4885:0.0:0.0	.	715;857;791;714;792	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	W	792;714;715	ENSP00000366829:R792W;ENSP00000328848:R714W;ENSP00000329659:R715W	ENSP00000328848:R714W	R	+	1	2	RBM10	46930077	0.064000	0.20934	1.000000	0.80357	0.998000	0.95712	0.465000	0.22004	0.424000	0.26061	0.529000	0.55759	CGG		0.572	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		6	22	0	0	0	0	6	22				
PRSS54	221191	broad.mit.edu	37	16	58319891	58319892	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-CN-4733-01A-02D-1870-08	TCGA-CN-4733-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12880a34-83d1-4075-b62a-9fc61d18ca09	7e2313fe-649e-42fd-8899-c002e6112c3f	g.chr16:58319891_58319892delGT	ENST00000219301.4	-	5	865_866	c.471_472delAC	c.(469-474)acaccafs	p.P159fs	PRSS54_ENST00000567164.1_Frame_Shift_Del_p.P159fs|PRSS54_ENST00000563336.1_5'Flank|PRSS54_ENST00000543437.1_Frame_Shift_Del_p.P60fs	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	159	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAGACTGGTGGTGTATGCAGCA	0.545																																						uc002enf.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(469-474)ACACCAfs		plasma kallikrein-like protein 4 precursor																																				SO:0001589	frameshift_variant	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58319891_58319892delGT	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.471_472delAC	16.37:g.58319893_58319894delGT	ENSP00000219301:p.Pro159fs					PRSS54_uc002eng.2_Frame_Shift_Del_p.T157fs|PRSS54_uc010vie.1_Frame_Shift_Del_p.T58fs	p.T157fs	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN			5	866_867	-			157_158			Peptidase S1.		Q96LN9|Q9NT77	Frame_Shift_Del	DEL	ENST00000219301.4	37	c.471_472delAC	CCDS32463.1																																																																																				0.545	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		7	93	NA	NA	NA	NA	7	93	---	---	---	---
