#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
PRAMEF2	65122	broad.mit.edu	37	1	12920063	12920063	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:12920063A>G	ENST00000240189.2	+	3	890	c.803A>G	c.(802-804)cAc>cGc	p.H268R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	268					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCTGGAACACCTCCAGTTG	0.463																																						uc001aum.1		NA																	0					0						c.(802-804)CAC>CGC		PRAME family member 2							94.0	93.0	94.0					1																	12920063		2203	4294	6497	SO:0001583	missense	65122							g.chr1:12920063A>G		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.803A>G	1.37:g.12920063A>G	ENSP00000240189:p.His268Arg						p.H268R	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	890	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	268						Missense_Mutation	SNP	ENST00000240189.2	37	c.803A>G	CCDS149.1	.	.	.	.	.	.	.	.	.	.	A	9.909	1.208973	0.22205	.	.	ENSG00000120952	ENST00000240189	T	0.00922	5.54	0.842	-0.8	0.10897	.	1.201780	0.05807	N	0.613300	T	0.01592	0.0051	L	0.58510	1.815	0.09310	N	1	P	0.49862	0.929	P	0.51193	0.662	T	0.44097	-0.9350	10	0.06099	T	0.92	.	3.4782	0.07593	0.5309:0.4691:0.0:0.0	.	268	O60811	PRAM2_HUMAN	R	268	ENSP00000240189:H268R	ENSP00000240189:H268R	H	+	2	0	PRAMEF2	12842650	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.355000	0.07671	-0.233000	0.09797	0.163000	0.16589	CAC		0.463	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		17	74	0	0	0	0	17	74				
NBPF1	55672	broad.mit.edu	37	1	16907242	16907243	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:16907242_16907243GG>TT	ENST00000430580.2	-	16	2475_2476	c.1588_1589CC>AA	c.(1588-1590)CCa>AAa	p.P530K	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	530	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGGCTACCTGGGAGAATGTTT	0.421																																						uc009vos.1		NA																	0					0						c.(1588-1590)CCA>AAA		hypothetical protein LOC55672																																				SO:0001583	missense	55672					cytoplasm		g.chr1:16907242_16907243GG>TT	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1588_1589delinsTT	1.37:g.16907242_16907243delinsTT	ENSP00000474456:p.Pro530Lys					NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.P259K	p.P530K	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	16	2476_2477	-			530			NBPF 2.		Q8N4E8|Q9C0H0	Missense_Mutation	DNP	ENST00000430580.2	37	c.1588_1589CC>AA																																																																																					0.421	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		20	645	0	0	0	0	20	645				
PADI2	11240	broad.mit.edu	37	1	17422438	17422438	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:17422438C>G	ENST00000375486.4	-	4	440	c.377G>C	c.(376-378)cGg>cCg	p.R126P	PADI2_ENST00000444885.2_Missense_Mutation_p.R126P|PADI2_ENST00000375481.1_Missense_Mutation_p.R126P	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	126					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CACACCATCCCGGTCTGCGTC	0.612																																						uc001baf.2		NA																	0				ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(376-378)CGG>CCG		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						190.0	164.0	173.0					1																	17422438		2203	4300	6503	SO:0001583	missense	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17422438C>G	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.377G>C	1.37:g.17422438C>G	ENSP00000364635:p.Arg126Pro					PADI2_uc010ocm.1_Missense_Mutation_p.R126P|PADI2_uc001bag.1_Missense_Mutation_p.R126P	p.R126P	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	4	459	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	126					Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	c.377G>C	CCDS177.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175204	0.78564	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	T;T;T	0.25749	1.78;2.12;1.78	6.08	6.08	0.98989	Protein-arginine deiminase (PAD), central domain (2);	0.052253	0.85682	D	0.000000	T	0.51363	0.1670	M	0.82323	2.585	0.29209	N	0.874726	D;D	0.76494	0.999;0.977	D;D	0.63381	0.914;0.911	T	0.57289	-0.7837	10	0.87932	D	0	-34.4729	13.4731	0.61292	0.0:0.925:0.0:0.0749	.	126;126	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	P	126	ENSP00000364635:R126P;ENSP00000405894:R126P;ENSP00000364630:R126P	ENSP00000364630:R126P	R	-	2	0	PADI2	17295025	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	3.176000	0.50863	2.894000	0.99253	0.655000	0.94253	CGG		0.612	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			3	50	0	0	0	0	3	50				
SRSF4	6429	broad.mit.edu	37	1	29475099	29475099	+	Silent	SNP	G	G	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:29475099G>T	ENST00000373795.4	-	6	1542	c.1308C>A	c.(1306-1308)acC>acA	p.T436T	SRSF4_ENST00000466448.1_5'Flank|RP11-242O24.3_ENST00000413004.1_lincRNA|SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	436	Arg/Ser-rich (RS domain).			TNQ -> RNE (in Ref. 1; AAA36649). {ECO:0000305}.	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						TCTCCTGATTGGTGCCAGCAT	0.522																																						uc001bro.2		NA																	0					0						c.(1306-1308)ACC>ACA		splicing factor, arginine/serine-rich 4							234.0	238.0	237.0					1																	29475099		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:29475099G>T	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.1308C>A	1.37:g.29475099G>T						SFRS4_uc010ofy.1_3'UTR	p.T436T	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	1681	-		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)	436	TNQ -> RNE (in Ref. 1; AAA36649).		Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	Silent	SNP	ENST00000373795.4	37	c.1308C>A	CCDS333.1																																																																																				0.522	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		9	134	1	0	4.69e-08	1.04e-06	9	134				
COL16A1	1307	broad.mit.edu	37	1	32165642	32165642	+	Splice_Site	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:32165642C>T	ENST00000373672.3	-	3	664	c.148G>A	c.(148-150)Ggc>Agc	p.G50S	COL16A1_ENST00000373668.3_Splice_Site_p.G50S|COL16A1_ENST00000271069.6_Splice_Site_p.G50S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	50	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGTGCTCACCAGTCACGTTG	0.572																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1		NA																	0				ovary(8)	8						c.(148-150)GGC>AGC		alpha 1 type XVI collagen precursor							123.0	134.0	130.0					1																	32165642		2181	4260	6441	SO:0001630	splice_region_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32165642C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.148+1G>A	1.37:g.32165642C>T						COL16A1_uc001btj.1_5'Flank|COL16A1_uc001btl.3_Missense_Mutation_p.G50S	p.G50S	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	3	513	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	50			TSP N-terminal.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.148G>A	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239908	0.58995	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.26660	1.72;1.72;1.72	4.64	4.64	0.57946	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.50531	0.1621	M	0.75615	2.305	0.46631	D	0.999135	D;D	0.89917	1.0;1.0	D;D	0.87578	0.953;0.998	T	0.51513	-0.8696	9	.	.	.	.	14.8287	0.70132	0.0:1.0:0.0:0.0	.	50;50	A6NCT7;Q07092	.;COGA1_HUMAN	S	50	ENSP00000362776:G50S;ENSP00000271069:G50S;ENSP00000362772:G50S	.	G	-	1	0	COL16A1	31938229	0.998000	0.40836	1.000000	0.80357	0.306000	0.27790	5.016000	0.64041	2.306000	0.77630	0.561000	0.74099	GGC		0.572	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	Missense_Mutation	11	21	0	0	0	0	11	21				
SPOCD1	90853	broad.mit.edu	37	1	32264059	32264059	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:32264059C>T	ENST00000360482.2	-	8	2141	c.2012G>A	c.(2011-2013)cGg>cAg	p.R671Q	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.R164Q|SPOCD1_ENST00000533231.1_Missense_Mutation_p.R671Q	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	671	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.		R -> W (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCTGGGGTCCCGCAGGTTGAA	0.617																																						uc001bts.1		NA																	0		p.R671W(1)		ovary(5)|breast(1)	6						c.(2011-2013)CGG>CAG		SPOC domain containing 1							76.0	65.0	68.0					1																	32264059		2203	4300	6503	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32264059C>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2012G>A	1.37:g.32264059C>T	ENSP00000353670:p.Arg671Gln					SPOCD1_uc001btt.2_5'UTR|SPOCD1_uc001btu.2_Missense_Mutation_p.R671Q|SPOCD1_uc001btv.2_Missense_Mutation_p.R164Q|SPOCD1_uc001btw.1_5'UTR	p.R671Q	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	8	2070	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	671		R -> W (in a breast cancer sample; somatic mutation).	TFIIS central.		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.2012G>A	CCDS347.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.737250|4.737250	0.89482|0.89482	.|.	.|.	ENSG00000134668|ENSG00000134668	ENST00000528579|ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231;ENST00000449266	.|T;T;T;T	.|0.44881	.|0.91;0.91;0.91;0.91	5.08|5.08	4.16|4.16	0.48862|0.48862	.|Transcription elongation factor S-II, central domain (4);	.|.	.|.	.|.	.|.	T|T	0.59649|0.59649	0.2209|0.2209	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.71184	.|0.953;0.972	T|T	0.62115|0.62115	-0.6922|-0.6922	5|9	.|0.72032	.|D	.|0.01	-21.1066|-21.1066	8.8057|8.8057	0.34936|0.34936	0.0:0.899:0.0:0.101|0.0:0.899:0.0:0.101	.|.	.|671;671	.|Q6ZMY3-2;Q6ZMY3	.|.;SPOC1_HUMAN	R|Q	87|164;671;69;108;671;56	.|ENSP00000257100:R164Q;ENSP00000353670:R671Q;ENSP00000399778:R108Q;ENSP00000435851:R671Q	.|ENSP00000257100:R164Q	G|R	-|-	1|2	0|0	SPOCD1|SPOCD1	32036646|32036646	0.681000|0.681000	0.27614|0.27614	0.952000|0.952000	0.39060|0.39060	0.977000|0.977000	0.68977|0.68977	1.004000|1.004000	0.29822|0.29822	2.523000|2.523000	0.85059|0.85059	0.650000|0.650000	0.86243|0.86243	GGG|CGG		0.617	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		12	21	0	0	0	0	12	21				
CYP4Z1	199974	broad.mit.edu	37	1	47564902	47564902	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:47564902A>G	ENST00000334194.3	+	8	1016	c.1013A>G	c.(1012-1014)cAg>cGg	p.Q338R	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	338						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GAGCATCAGCAGAGATGCCGA	0.458																																						uc001cqu.1		NA																	0				skin(1)	1						c.(1012-1014)CAG>CGG		cytochrome P450 4Z1							92.0	83.0	86.0					1																	47564902		2203	4300	6503	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47564902A>G	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1013A>G	1.37:g.47564902A>G	ENSP00000334246:p.Gln338Arg						p.Q338R	NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN			8	1016	+			338			Lumenal (Potential).		Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.1013A>G	CCDS545.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.429388	0.43122	.	.	ENSG00000186160	ENST00000334194	T	0.68181	-0.31	2.66	2.66	0.31614	.	0.601801	0.14118	U	0.340260	T	0.48537	0.1505	N	0.22421	0.69	0.09310	N	0.999998	P	0.43542	0.81	B	0.37091	0.241	T	0.36578	-0.9742	10	0.48119	T	0.1	.	9.91	0.41399	1.0:0.0:0.0:0.0	.	338	Q86W10	CP4Z1_HUMAN	R	338	ENSP00000334246:Q338R	ENSP00000334246:Q338R	Q	+	2	0	CYP4Z1	47337489	0.934000	0.31675	0.342000	0.25602	0.454000	0.32378	5.184000	0.65070	1.217000	0.43442	0.254000	0.18369	CAG		0.458	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		3	35	0	0	0	0	3	35				
MCOLN2	255231	broad.mit.edu	37	1	85395292	85395292	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:85395292T>A	ENST00000370608.3	-	13	1680	c.1613A>T	c.(1612-1614)gAg>gTg	p.E538V	MCOLN2_ENST00000284027.5_Missense_Mutation_p.E510V	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	538					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTTCTGATACTCTTCTTTGCT	0.438																																						uc001dkm.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1612-1614)GAG>GTG		mucolipin 2							99.0	91.0	94.0					1																	85395292		2203	4300	6503	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85395292T>A	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.1613A>T	1.37:g.85395292T>A	ENSP00000359640:p.Glu538Val					MCOLN2_uc001dkn.2_RNA	p.E538V	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	13	1854	-			538					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.1613A>T	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	T	3.399	-0.122581	0.06795	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	D;D	0.84442	-1.85;-1.83	5.43	1.83	0.25207	.	0.724142	0.13816	N	0.360749	T	0.55369	0.1916	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46652	-0.9176	10	0.36615	T	0.2	-20.6672	4.7838	0.13215	0.0:0.177:0.3415:0.4815	.	538	Q8IZK6	MCLN2_HUMAN	V	538;510	ENSP00000359640:E538V;ENSP00000284027:E510V	ENSP00000284027:E510V	E	-	2	0	MCOLN2	85167880	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	0.045000	0.14013	0.125000	0.18397	0.459000	0.35465	GAG		0.438	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		5	20	0	0	0	0	5	20				
CCBL2	56267	broad.mit.edu	37	1	89426943	89426943	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:89426943T>C	ENST00000260508.4	-	8	1031	c.694A>G	c.(694-696)Att>Gtt	p.I232V	CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.I198V|CCBL2_ENST00000370485.2_3'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	232					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		AGGTCAGCAATTACTTGCAGT	0.363																																						uc001dmp.2		NA																	0				ovary(1)	1						c.(694-696)ATT>GTT		kynurenine aminotransferase III isoform 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						176.0	168.0	171.0					1																	89426943		2203	4300	6503	SO:0001583	missense	56267				biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding	g.chr1:89426943T>C	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.694A>G	1.37:g.89426943T>C	ENSP00000260508:p.Ile232Val					CCBL2_uc001dmq.2_Missense_Mutation_p.I198V|CCBL2_uc001dmr.2_Missense_Mutation_p.I68V	p.I232V	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN		all cancers(265;0.0117)|Epithelial(280;0.0341)	8	1071	-		Lung NSC(277;0.123)	232					B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	c.694A>G	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.457917	0.43634	.	.	ENSG00000137944	ENST00000370491;ENST00000260508;ENST00000370486	D;D;D	0.91631	-2.88;-2.88;-2.88	5.93	5.93	0.95920	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.043234	0.85682	D	0.000000	D	0.84374	0.5458	L	0.41492	1.28	0.80722	D	1	B	0.32862	0.387	B	0.33799	0.17	D	0.83779	0.0224	10	0.29301	T	0.29	-10.5387	16.3654	0.83319	0.0:0.0:0.0:1.0	.	232	Q6YP21	KAT3_HUMAN	V	198;232;232	ENSP00000359522:I198V;ENSP00000260508:I232V;ENSP00000359517:I232V	ENSP00000260508:I232V	I	-	1	0	CCBL2	89199531	1.000000	0.71417	0.973000	0.42090	0.957000	0.61999	5.788000	0.69020	2.270000	0.75569	0.533000	0.62120	ATT		0.363	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		17	85	0	0	0	0	17	85				
DCLRE1B	64858	broad.mit.edu	37	1	114454676	114454676	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:114454676A>G	ENST00000369563.3	+	4	1908	c.1462A>G	c.(1462-1464)Aag>Gag	p.K488E	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	488					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACAGCAGCAAGGGCACCCC	0.532								Other identified genes with known or suspected DNA repair function																														uc001eeg.2		NA																	0					0						c.(1462-1464)AAG>GAG	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA cross-link repair 1B (PSO2 homolog, S.							98.0	104.0	102.0					1																	114454676		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114454676A>G	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1462A>G	1.37:g.114454676A>G	ENSP00000358576:p.Lys488Glu					DCLRE1B_uc001eeh.2_Intron|DCLRE1B_uc001eei.2_Missense_Mutation_p.K362E	p.K488E	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1633	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	488					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.1462A>G	CCDS866.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.278229	0.40294	.	.	ENSG00000118655	ENST00000369563	T	0.76839	-1.05	5.85	-1.81	0.07882	.	1.204010	0.05609	N	0.577824	T	0.38585	0.1046	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13229	-1.0517	10	0.22706	T	0.39	-12.416	6.0102	0.19571	0.4678:0.1455:0.3867:0.0	.	488	Q9H816	DCR1B_HUMAN	E	488	ENSP00000358576:K488E	ENSP00000358576:K488E	K	+	1	0	DCLRE1B	114256199	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	0.385000	0.20685	-0.093000	0.12396	0.533000	0.62120	AAG		0.532	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		11	30	0	0	0	0	11	30				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						uc001end.3		NA																	6	Substitution - coding silent(6)		prostate(2)|kidney(2)|central_nervous_system(2)		0						c.(1150-1152)TTA>TTG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	p.L384L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	26	0	0	0	0	5	26				
FLG	2312	broad.mit.edu	37	1	152277266	152277266	+	Missense_Mutation	SNP	G	G	C	rs532624514		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:152277266G>C	ENST00000368799.1	-	3	10131	c.10096C>G	c.(10096-10098)Cag>Gag	p.Q3366E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3366	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGGCTCTGCTGATGGGGC	0.582									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(10096-10098)CAG>GAG		filaggrin							302.0	317.0	312.0					1																	152277266		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277266G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10096C>G	1.37:g.152277266G>C	ENSP00000357789:p.Gln3366Glu						p.Q3366E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10132	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3366			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10096C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	1.323	-0.599007	0.03744	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00737	5.76	2.12	-4.23	0.03789	.	.	.	.	.	T	0.00300	0.0009	M	0.72479	2.2	0.09310	N	1	B	0.24823	0.112	B	0.24848	0.056	T	0.42916	-0.9423	9	0.20046	T	0.44	.	1.0628	0.01604	0.1373:0.2851:0.1999:0.3777	.	3366	P20930	FILA_HUMAN	E	3366;304	ENSP00000357789:Q3366E	ENSP00000357786:Q304E	Q	-	1	0	FLG	150543890	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.832000	0.01696	-1.653000	0.01500	0.454000	0.30748	CAG		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		25	177	0	0	0	0	25	177				
LCE1C	353133	broad.mit.edu	37	1	152777761	152777761	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:152777761C>A	ENST00000607093.1	-	1	193	c.194G>T	c.(193-195)gGg>gTg	p.G65V	LCE1C_ENST00000368768.1_Missense_Mutation_p.G65V			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	65	Gly-rich.				keratinization (GO:0031424)			p.G65V(1)		NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGCATCCCCCAGAGCTGGA	0.662																																						uc001fap.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(193-195)GGG>GTG		late cornified envelope 1C							40.0	46.0	44.0					1																	152777761		2203	4300	6503	SO:0001583	missense	353133				keratinization			g.chr1:152777761C>A		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.194G>T	1.37:g.152777761C>A	ENSP00000475270:p.Gly65Val						p.G65V	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	245	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		65			Gly-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.194G>T	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	C	7.663	0.685277	0.14973	.	.	ENSG00000197084	ENST00000368768	T	0.05649	3.41	3.32	2.38	0.29361	.	0.000000	0.34411	N	0.003997	T	0.10551	0.0258	M	0.80616	2.505	0.44595	D	0.997569	D	0.61080	0.989	P	0.59948	0.866	T	0.01273	-1.1399	10	0.87932	D	0	.	7.0586	0.25113	0.0:0.8617:0.0:0.1383	.	65	Q5T751	LCE1C_HUMAN	V	65	ENSP00000357757:G65V	ENSP00000357757:G65V	G	-	2	0	LCE1C	151044385	0.492000	0.26027	0.843000	0.33291	0.808000	0.45660	0.995000	0.29706	0.707000	0.31934	0.596000	0.82720	GGG		0.662	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		7	42	1	0	2.01e-06	4.26e-05	7	42				
BRINP2	57795	broad.mit.edu	37	1	177250578	177250578	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:177250578G>T	ENST00000361539.4	+	8	2578	c.2266G>T	c.(2266-2268)Gtg>Ttg	p.V756L	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	756					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.V756M(1)									CAACAATGAGGTGGGCAGGAT	0.557																																						uc001glf.2		NA																	1	Substitution - Missense(1)	p.V756M(1)	ovary(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(2266-2268)GTG>TTG		family with sequence similarity 5, member B							74.0	73.0	73.0					1																	177250578		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177250578G>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2266G>T	1.37:g.177250578G>T	ENSP00000354481:p.Val756Leu					FAM5B_uc001glg.2_Missense_Mutation_p.V651L	p.V756L	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	2578	+			756					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.2266G>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276785	0.80580	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.19806	2.12	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.47116	0.1428	M	0.65498	2.005	0.80722	D	1	D;P	0.71674	0.998;0.554	D;B	0.81914	0.995;0.225	T	0.45977	-0.9224	10	0.72032	D	0.01	-15.4833	18.4543	0.90714	0.0:0.0:1.0:0.0	.	651;756	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	L	509;756	ENSP00000354481:V756L	ENSP00000354481:V756L	V	+	1	0	FAM5B	175517201	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.731000	0.98807	2.457000	0.83068	0.313000	0.20887	GTG		0.557	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		5	42	1	0	1.02e-07	2.26e-06	5	42				
RGL1	23179	broad.mit.edu	37	1	183895366	183895366	+	Silent	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:183895366G>A	ENST00000360851.3	+	18	2425	c.2247G>A	c.(2245-2247)acG>acA	p.T749T	RGL1_ENST00000536277.1_Silent_p.T747T|RGL1_ENST00000539189.1_Silent_p.T720T|RGL1_ENST00000304685.4_Silent_p.T784T			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	749					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCAGCTTGACGTTGCCCAGGA	0.502																																						uc001gqo.2		NA																	0				breast(5)|ovary(4)|lung(2)	11						c.(2245-2247)ACG>ACA		ral guanine nucleotide dissociation							79.0	74.0	76.0					1																	183895366		2203	4300	6503	SO:0001819	synonymous_variant	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183895366G>A	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2247G>A	1.37:g.183895366G>A						RGL1_uc001gqm.2_Silent_p.T784T|RGL1_uc010pog.1_Silent_p.T747T|RGL1_uc010poh.1_Silent_p.T747T|RGL1_uc010poi.1_Silent_p.T720T	p.T749T	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			18	2404	+			749					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	37	c.2247G>A																																																																																					0.502	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		23	32	0	0	0	0	23	32				
PLA2G4A	5321	broad.mit.edu	37	1	186839595	186839595	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:186839595C>T	ENST00000367466.3	+	3	214	c.62C>T	c.(61-63)aCg>aTg	p.T21M	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.T21M	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	21	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	CACAAGTTTACGGTAGTGGTG	0.383																																						uc001gsc.2		NA																	0				lung(2)|breast(1)	3						c.(61-63)ACG>ATG		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						79.0	76.0	77.0					1																	186839595		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186839595C>T	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.62C>T	1.37:g.186839595C>T	ENSP00000356436:p.Thr21Met					PLA2G4A_uc010pos.1_Missense_Mutation_p.T21M	p.T21M	NM_024420	NP_077734	P47712	PA24A_HUMAN			3	267	+			21			C2.|Phospholipid binding (Probable).		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.62C>T	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323344	0.60634	.	.	ENSG00000116711	ENST00000367466;ENST00000419192;ENST00000442353	T;T	0.64803	-0.12;-0.12	5.49	5.49	0.81192	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.091563	0.85682	D	0.000000	T	0.65228	0.2671	M	0.83312	2.635	0.43480	D	0.995708	D;P	0.56968	0.978;0.925	B;B	0.38921	0.26;0.285	T	0.75288	-0.3370	10	0.72032	D	0.01	-16.6841	16.8697	0.86038	0.0:1.0:0.0:0.0	.	21;21	E7EU42;P47712	.;PA24A_HUMAN	M	21	ENSP00000356436:T21M;ENSP00000406892:T21M	ENSP00000356436:T21M	T	+	2	0	PLA2G4A	185106218	0.842000	0.29525	0.966000	0.40874	0.940000	0.58332	1.425000	0.34859	2.561000	0.86390	0.655000	0.94253	ACG		0.383	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		9	29	0	0	0	0	9	29				
PLA2G4A	5321	broad.mit.edu	37	1	186915840	186915840	+	Nonsense_Mutation	SNP	G	G	T	rs77939449		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:186915840G>T	ENST00000367466.3	+	11	1257	c.1105G>T	c.(1105-1107)Gga>Tga	p.G369*	PLA2G4A_ENST00000442353.2_Nonsense_Mutation_p.G309*	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	369	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	CGACTTATTTGGAAGCAAATT	0.328																																						uc001gsc.2		NA																	0				lung(2)|breast(1)	3						c.(1105-1107)GGA>TGA		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						78.0	79.0	79.0					1																	186915840		2203	4300	6503	SO:0001587	stop_gained	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186915840G>T	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1105G>T	1.37:g.186915840G>T	ENSP00000356436:p.Gly369*					PLA2G4A_uc010pos.1_Nonsense_Mutation_p.G309*	p.G369*	NM_024420	NP_077734	P47712	PA24A_HUMAN			11	1310	+			369			PLA2c.		B1AKG4|Q29R80	Nonsense_Mutation	SNP	ENST00000367466.3	37	c.1105G>T	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	39	7.339830	0.98221	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.8982	19.2867	0.94077	0.0:0.0:1.0:0.0	.	.	.	.	X	369;309	.	ENSP00000356436:G369X	G	+	1	0	PLA2G4A	185182463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	2.793000	0.96121	0.655000	0.94253	GGA		0.328	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		10	101	1	0	9.31e-06	0.00019321	10	101				
CRB1	23418	broad.mit.edu	37	1	197316484	197316484	+	Missense_Mutation	SNP	G	G	A	rs148240351		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:197316484G>A	ENST00000367400.3	+	4	998	c.863G>A	c.(862-864)tGc>tAc	p.C288Y	CRB1_ENST00000535699.1_Missense_Mutation_p.C219Y|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.C288Y|CRB1_ENST00000543483.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	288	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGCTGTAACTGCACGGGTAGT	0.388																																						uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(862-864)TGC>TAC		crumbs homolog 1 precursor							202.0	183.0	189.0					1																	197316484		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197316484G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.863G>A	1.37:g.197316484G>A	ENSP00000356370:p.Cys288Tyr					CRB1_uc010poz.1_Missense_Mutation_p.C219Y|CRB1_uc001gty.1_Missense_Mutation_p.C288Y|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Missense_Mutation_p.C288Y|CRB1_uc010ppc.1_RNA	p.C288Y	NM_201253	NP_957705	P82279	CRUM1_HUMAN			4	998	+			288			Extracellular (Potential).|EGF-like 7; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.863G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634745	0.87660	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400	T;T;T	0.65732	-0.17;-0.17;-0.17	5.4	5.4	0.78164	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.88518	0.6458	H	0.99225	4.475	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.991;0.999	D;D;P;D	0.74348	0.936;0.957;0.872;0.983	D	0.93400	0.6759	9	0.87932	D	0	.	18.7682	0.91881	0.0:0.0:1.0:0.0	.	288;219;288;313	B7Z5T2;F5H0L2;P82279;Q59H36	.;.;CRUM1_HUMAN;.	Y	219;288;288	ENSP00000438786:C219Y;ENSP00000438091:C288Y;ENSP00000356370:C288Y	ENSP00000356370:C288Y	C	+	2	0	CRB1	195583107	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.180000	0.94867	2.524000	0.85096	0.585000	0.79938	TGC		0.388	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		18	131	0	0	0	0	18	131				
WDR26	80232	broad.mit.edu	37	1	224607315	224607315	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:224607315T>C	ENST00000414423.2	-	5	960	c.767A>G	c.(766-768)tAt>tGt	p.Y256C	WDR26_ENST00000295024.6_Missense_Mutation_p.Y109C|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	256						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		ACACATCAGATACCTAAAAAT	0.378																																						uc001hop.3		NA																	0					0						c.(325-327)TAT>TGT		WD repeat domain 26 isoform a							99.0	89.0	92.0					1																	224607315		2203	4300	6503	SO:0001583	missense	80232					cytoplasm|nucleus		g.chr1:224607315T>C	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.767A>G	1.37:g.224607315T>C	ENSP00000408108:p.Tyr256Cys					WDR26_uc001hoq.3_Missense_Mutation_p.Y93C|WDR26_uc009xei.1_Missense_Mutation_p.Y93C	p.Y109C	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	5	692	-			256					A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	c.326A>G	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	T	21.4	4.149024	0.78001	.	.	ENSG00000162923	ENST00000414423;ENST00000295024;ENST00000445239	T;T	0.68624	-0.34;-0.06	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	L	0.48174	1.505	0.80722	D	1	P;P	0.39443	0.545;0.674	B;B	0.41666	0.199;0.363	T	0.63554	-0.6611	10	0.35671	T	0.21	.	15.5052	0.75731	0.0:0.0:0.0:1.0	.	256;240	Q9H7D7;Q9H7D7-2	WDR26_HUMAN;.	C	256;109;109	ENSP00000408108:Y256C;ENSP00000295024:Y109C	ENSP00000295024:Y109C	Y	-	2	0	WDR26	222673938	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.152000	0.67230	0.533000	0.62120	TAT		0.378	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		37	33	0	0	0	0	37	33				
ARID4B	51742	broad.mit.edu	37	1	235346105	235346105	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:235346105G>A	ENST00000264183.3	-	20	2626	c.2129C>T	c.(2128-2130)tCt>tTt	p.S710F	ARID4B_ENST00000366603.2_Missense_Mutation_p.S710F|ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Missense_Mutation_p.S624F	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	710					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			AGAACTTTCAGAAGCTAGAAA	0.373																																						uc001hwq.2		NA																	0				ovary(2)|lung(1)	3						c.(2128-2130)TCT>TTT		AT rich interactive domain 4B isoform 1							44.0	46.0	45.0					1																	235346105		2199	4300	6499	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235346105G>A	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2129C>T	1.37:g.235346105G>A	ENSP00000264183:p.Ser710Phe					ARID4B_uc001hwr.2_Missense_Mutation_p.S624F|ARID4B_uc001hws.3_Missense_Mutation_p.S624F|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.S391F	p.S710F	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	2627	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	710					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.2129C>T	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113420	0.77210	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.35236	1.32;1.59;1.59	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.998	D;D;D;P	0.83275	0.996;0.992;0.992;0.897	T	0.52902	-0.8513	10	0.87932	D	0	-12.3212	20.0051	0.97433	0.0:0.0:1.0:0.0	.	391;710;624;710	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	F	710;624;710;710	ENSP00000264184:S624F;ENSP00000355562:S710F;ENSP00000264183:S710F	ENSP00000264183:S710F	S	-	2	0	ARID4B	233412728	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.471000	0.90403	2.799000	0.96334	0.650000	0.86243	TCT		0.373	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		16	71	0	0	0	0	16	71				
ADSS	159	broad.mit.edu	37	1	244574694	244574694	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:244574694G>T	ENST00000366535.3	-	12	1529	c.1213C>A	c.(1213-1215)Ctc>Atc	p.L405I	RP11-518L10.5_ENST00000417765.1_RNA	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			CATCCTGGGAGAGTCTTATAT	0.343																																						uc001iaj.2		NA																	0				ovary(2)|kidney(1)	3						c.(1213-1215)CTC>ATC		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						137.0	135.0	136.0					1																	244574694		2203	4300	6503	SO:0001583	missense	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244574694G>T	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.1213C>A	1.37:g.244574694G>T	ENSP00000355493:p.Leu405Ile						p.L405I	NM_001126	NP_001117	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		12	1507	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	405						Missense_Mutation	SNP	ENST00000366535.3	37	c.1213C>A	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685467	0.68157	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.46063	0.88	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	L	0.51422	1.61	0.80722	D	1	B	0.22414	0.069	B	0.34242	0.178	T	0.38908	-0.9639	10	0.62326	D	0.03	-9.0121	14.2647	0.66110	0.0707:0.0:0.9293:0.0	.	405	P30520	PURA2_HUMAN	I	405;384	ENSP00000355493:L405I	ENSP00000355493:L405I	L	-	1	0	ADSS	242641317	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	1.675000	0.37555	2.741000	0.93983	0.650000	0.86243	CTC		0.343	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		20	133	1	0	1.28e-07	2.79e-06	20	133				
OR11L1	391189	broad.mit.edu	37	1	248004731	248004731	+	Silent	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:248004731G>A	ENST00000355784.2	-	1	523	c.468C>T	c.(466-468)ggC>ggT	p.G156G		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	156						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGCAGAAAGCCTGTGCTGA	0.577																																						uc001idn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(466-468)GGC>GGT		olfactory receptor, family 11, subfamily L,							81.0	80.0	80.0					1																	248004731		2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004731G>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.468C>T	1.37:g.248004731G>A							p.G156G	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	468	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		156			Helical; Name=4; (Potential).			Silent	SNP	ENST00000355784.2	37	c.468C>T	CCDS31098.1																																																																																				0.577	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		11	48	0	0	0	0	11	48				
OR2M5	127059	broad.mit.edu	37	1	248308964	248308965	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:248308964_248308965GG>TT	ENST00000366476.1	+	1	515_516	c.515_516GG>TT	c.(514-516)cGG>cTT	p.R172L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGTGGGTCTCGGGAAATAGCCC	0.426																																						uc010pze.1		NA																	0				ovary(2)|kidney(1)	3						c.(514-516)CGG>CTT		olfactory receptor, family 2, subfamily M,																																				SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308964_248308965GG>TT		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	Exception_encountered	1.37:g.248308964_248308965delinsTT	ENSP00000355432:p.Arg172Leu						p.R172L	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	515_516	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		172			Extracellular (Potential).			Missense_Mutation	DNP	ENST00000366476.1	37	c.515_516GG>TT	CCDS31105.1																																																																																				0.426	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		13	191	0	0	0	0	13	191				
OR2T4	127074	broad.mit.edu	37	1	248525876	248525876	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:248525876G>C	ENST00000366475.1	+	1	994	c.994G>C	c.(994-996)Gct>Cct	p.A332P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTCATGGGGGCTCTGAAGAA	0.413																																						uc001ieh.1		NA																	0				central_nervous_system(1)	1						c.(994-996)GCT>CCT		olfactory receptor, family 2, subfamily T,							109.0	115.0	113.0					1																	248525876		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525876G>C	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.994G>C	1.37:g.248525876G>C	ENSP00000355431:p.Ala332Pro						p.A332P	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	994	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		332			Cytoplasmic (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.994G>C	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312648	0.40895	.	.	ENSG00000196944	ENST00000366475	T	0.47528	0.84	3.0	2.06	0.26882	.	0.000000	0.46758	D	0.000273	T	0.64249	0.2581	M	0.84326	2.69	0.09310	N	1	D	0.62365	0.991	D	0.67900	0.954	T	0.54957	-0.8215	10	0.87932	D	0	.	7.1625	0.25672	0.0:0.1897:0.6148:0.1955	.	332	Q8NH00	OR2T4_HUMAN	P	332	ENSP00000355431:A332P	ENSP00000355431:A332P	A	+	1	0	OR2T4	246592499	0.001000	0.12720	0.380000	0.26093	0.987000	0.75469	0.452000	0.21795	0.437000	0.26423	0.585000	0.79938	GCT		0.413	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		25	109	0	0	0	0	25	109				
CUBN	8029	broad.mit.edu	37	10	16870832	16870832	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr10:16870832G>A	ENST00000377833.4	-	66	10801	c.10736C>T	c.(10735-10737)tCt>tTt	p.S3579F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3579	CUB 27. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGAGGATGGAGAGCTGGCGTT	0.433											OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(10735-10737)TCT>TTT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						124.0	116.0	119.0					10																	16870832		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16870832G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10736C>T	10.37:g.16870832G>A	ENSP00000367064:p.Ser3579Phe		OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	713		p.S3579F	NM_001081	NP_001072	O60494	CUBN_HUMAN			66	10788	-			3579			CUB 27.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10736C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	6.623	0.483331	0.12581	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.34275	1.37	5.74	5.74	0.90152	CUB (5);	0.000000	0.41396	D	0.000891	T	0.41673	0.1169	M	0.85099	2.735	0.80722	D	1	B	0.16166	0.016	B	0.19946	0.027	T	0.33497	-0.9866	10	0.12103	T	0.63	.	12.7039	0.57049	0.0:0.0:0.7938:0.2062	.	3579	O60494	CUBN_HUMAN	F	3579;420	ENSP00000367064:S3579F	ENSP00000367064:S3579F	S	-	2	0	CUBN	16910838	1.000000	0.71417	0.158000	0.22627	0.007000	0.05969	3.801000	0.55545	2.720000	0.93068	0.561000	0.74099	TCT		0.433	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		6	37	0	0	0	0	6	37				
FRMPD2	143162	broad.mit.edu	37	10	49409355	49409355	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr10:49409355T>A	ENST00000374201.3	-	15	2172	c.1870A>T	c.(1870-1872)Agt>Tgt	p.S624C	FRMPD2_ENST00000305531.3_Missense_Mutation_p.S599C|FRMPD2_ENST00000407470.4_Missense_Mutation_p.S592C	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	624	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.			S -> G (in Ref. 3; CAH18097). {ECO:0000305}.	tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AAGTATTTACTGGTCTTGGCT	0.448																																						uc001jgi.2		NA																	0				large_intestine(1)	1						c.(1870-1872)AGT>TGT		FERM and PDZ domain containing 2 isoform 3							178.0	147.0	158.0					10																	49409355		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49409355T>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1870A>T	10.37:g.49409355T>A	ENSP00000363317:p.Ser624Cys					FRMPD2_uc001jgh.2_Missense_Mutation_p.S592C|FRMPD2_uc001jgj.2_Missense_Mutation_p.S602C	p.S624C	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	15	1977	-			624	S -> G (in Ref. 3; CAH18097).		FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.1870A>T	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.393669	0.25205	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	D;D;D	0.86030	-2.06;-2.06;-2.06	5.16	4.02	0.46733	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	.	.	.	.	T	0.55178	0.1904	N	0.00507	-1.42	0.32708	N	0.511952	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.0	T	0.56129	-0.8030	9	0.02654	T	1	.	10.6459	0.45619	0.8506:0.0:0.0:0.1494	.	599;624;592	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	C	624;599;592	ENSP00000363317:S624C;ENSP00000307079:S599C;ENSP00000384339:S592C	ENSP00000307079:S599C	S	-	1	0	FRMPD2	49079361	0.998000	0.40836	0.993000	0.49108	0.418000	0.31294	3.035000	0.49759	0.907000	0.36646	-0.339000	0.08088	AGT		0.448	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		9	73	0	0	0	0	9	73				
SORCS1	114815	broad.mit.edu	37	10	108469071	108469072	+	Missense_Mutation	DNP	CT	CT	AG			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr10:108469071_108469072CT>AG	ENST00000263054.6	-	7	1059_1060	c.1052_1053AG>CT	c.(1051-1053)cAG>cCT	p.Q351P	SORCS1_ENST00000344440.6_Missense_Mutation_p.Q351P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	351					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGTACAGTTCTGCATTCGGCA	0.406																																						uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1051-1053)CAG>CCT		SORCS receptor 1 isoform a																																				SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108469071_108469072CT>AG	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1052_1053delinsAG	10.37:g.108469071_108469072delinsAG	ENSP00000263054:p.Gln351Pro					SORCS1_uc001kyl.2_Missense_Mutation_p.Q351P|SORCS1_uc009xxs.2_Missense_Mutation_p.Q351P|SORCS1_uc001kyn.1_Missense_Mutation_p.Q351P|SORCS1_uc001kyo.2_Missense_Mutation_p.Q351P	p.Q351P	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	7	1060_1061	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	351			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	DNP	ENST00000263054.6	37	c.1052_1053AG>CT	CCDS7559.1																																																																																				0.406	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		16	56	0	0	0	0	16	56				
TIAL1	7073	broad.mit.edu	37	10	121336173	121336173	+	Silent	SNP	C	C	T	rs542736265	byFrequency	TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr10:121336173C>T	ENST00000436547.2	-	11	995	c.951G>A	c.(949-951)ccG>ccA	p.P317P	TIAL1_ENST00000369092.4_Silent_p.P194P|TIAL1_ENST00000369093.2_Silent_p.P334P|TIAL1_ENST00000463089.2_5'UTR	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	317					apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CTCCATAAGGCGGTACTTGCC	0.428													C|||	13	0.00259585	0.0	0.0	5008	,	,		18672	0.0		0.0	False		,,,				2504	0.0133					uc001lei.1		NA																	0				ovary(1)	1						c.(949-951)CCG>CCA		TIA-1 related protein isoform 1							194.0	174.0	181.0					10																	121336173		2203	4300	6503	SO:0001819	synonymous_variant	7073				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding	g.chr10:121336173C>T	AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.951G>A	10.37:g.121336173C>T						TIAL1_uc001leh.1_Silent_p.P295P|TIAL1_uc001lej.1_Silent_p.P334P|TIAL1_uc001lek.1_Silent_p.P194P|TIAL1_uc009xzi.1_Silent_p.P186P|TIAL1_uc010qtb.1_3'UTR	p.P317P	NM_003252	NP_003243	Q01085	TIAR_HUMAN		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)	11	1515	-		Lung NSC(174;0.094)|all_lung(145;0.123)	317					A8K3T0|A8K4L9	Silent	SNP	ENST00000436547.2	37	c.951G>A	CCDS7613.1																																																																																				0.428	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252		26	103	0	0	0	0	26	103				
NUP98	4928	broad.mit.edu	37	11	3726504	3726504	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:3726504G>A	ENST00000324932.7	-	22	3428	c.3008C>T	c.(3007-3009)gCa>gTa	p.A1003V	NUP98_ENST00000355260.3_Missense_Mutation_p.A1003V|NUP98_ENST00000359171.4_Missense_Mutation_p.A1003V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1020					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGAAGTATCTGCTTTGGAAGG	0.413			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2		NA		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		0				breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(3007-3009)GCA>GTA		nucleoporin 98kD isoform 1							190.0	171.0	178.0					11																	3726504		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3726504G>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3008C>T	11.37:g.3726504G>A	ENSP00000316032:p.Ala1003Val					NUP98_uc001lyi.2_Missense_Mutation_p.A1003V|NUP98_uc001lyg.2_Missense_Mutation_p.A71V	p.A1003V	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	22	3299	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1020					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.3008C>T	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846258	0.51164	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	5.29	0.521	0.17046	.	0.578888	0.17198	N	0.183255	T	0.14570	0.0352	N	0.08118	0	0.19300	N	0.99997	B;B;B	0.11235	0.001;0.0;0.004	B;B;B	0.11329	0.001;0.002;0.006	T	0.20273	-1.0280	9	0.21014	T	0.42	-2.1355	4.9476	0.13997	0.3414:0.4538:0.2048:0.0	.	1003;1003;1020	P52948-2;P52948-5;P52948-6	.;.;.	V	1003	.	ENSP00000316032:A1003V	A	-	2	0	NUP98	3683080	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.700000	0.25601	0.622000	0.30249	0.484000	0.47621	GCA		0.413	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		26	62	0	0	0	0	26	62				
ANO5	203859	broad.mit.edu	37	11	22279232	22279232	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:22279232G>A	ENST00000324559.8	+	14	1656	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	447					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.E447K(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAGGAGATGGAACCTTACAT	0.378																																						uc001mqi.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1339-1341)GAA>AAA		anoctamin 5 isoform a							167.0	157.0	161.0					11																	22279232		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22279232G>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1339G>A	11.37:g.22279232G>A	ENSP00000315371:p.Glu447Lys					ANO5_uc001mqj.2_Missense_Mutation_p.E446K	p.E447K	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			14	1656	+			447			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.1339G>A	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179234	0.78564	.	.	ENSG00000171714	ENST00000324559	T	0.67523	-0.27	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.72366	0.3451	M	0.77103	2.36	0.80722	D	1	B	0.22080	0.064	B	0.27500	0.08	T	0.69935	-0.5010	10	0.56958	D	0.05	.	19.8595	0.96778	0.0:0.0:1.0:0.0	.	447	Q75V66	ANO5_HUMAN	K	447	ENSP00000315371:E447K	ENSP00000315371:E447K	E	+	1	0	ANO5	22235808	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	9.605000	0.98321	2.701000	0.92244	0.460000	0.39030	GAA		0.378	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		26	39	0	0	0	0	26	39				
OR5B12	390191	broad.mit.edu	37	11	58206944	58206944	+	Silent	SNP	G	G	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:58206944G>C	ENST00000302572.2	-	1	702	c.681C>G	c.(679-681)cgC>cgG	p.R227R		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTTCAGGTGAGCGCATCTTCA	0.398																																						uc010rkh.1		NA																	0					0						c.(679-681)CGC>CGG		olfactory receptor, family 5, subfamily B,							71.0	69.0	70.0					11																	58206944		2201	4295	6496	SO:0001819	synonymous_variant	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206944G>C	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.681C>G	11.37:g.58206944G>C							p.R227R	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	681	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	227			Cytoplasmic (Potential).		B2RNL2|Q6IEV5	Silent	SNP	ENST00000302572.2	37	c.681C>G	CCDS31551.1																																																																																				0.398	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		3	45	0	0	0	0	3	45				
OR4D11	219986	broad.mit.edu	37	11	59271552	59271552	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:59271552C>A	ENST00000313253.1	+	1	504	c.504C>A	c.(502-504)ttC>ttA	p.F168L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTCTCCCTTTCTGTGGACCCA	0.512																																						uc001noa.1		NA																	0				ovary(1)|skin(1)	2						c.(502-504)TTC>TTA		olfactory receptor, family 4, subfamily D,							254.0	220.0	232.0					11																	59271552		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271552C>A	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.504C>A	11.37:g.59271552C>A	ENSP00000320077:p.Phe168Leu						p.F168L	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	504	+			168			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.504C>A	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	c	17.79	3.476052	0.63737	.	.	ENSG00000176200	ENST00000313253	T	0.00039	8.85	5.44	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000057	T	0.00356	0.0011	M	0.85777	2.775	0.35717	D	0.816846	P	0.37330	0.59	P	0.47827	0.558	T	0.61637	-0.7022	10	0.87932	D	0	-49.1458	8.8024	0.34916	0.0:0.8198:0.0:0.1802	.	168	Q8NGI4	OR4DB_HUMAN	L	168	ENSP00000320077:F168L	ENSP00000320077:F168L	F	+	3	2	OR4D11	59028128	0.128000	0.22383	1.000000	0.80357	0.887000	0.51463	-0.522000	0.06237	1.222000	0.43521	0.557000	0.71058	TTC		0.512	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		19	80	1	0	1.4e-16	3.22e-15	19	80				
AHNAK	79026	broad.mit.edu	37	11	62297926	62297926	+	Silent	SNP	G	G	T	rs374444637		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:62297926G>T	ENST00000378024.4	-	5	4237	c.3963C>A	c.(3961-3963)ccC>ccA	p.P1321P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1321					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGAGATCTTGGGGGCCTTGA	0.517																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(3961-3963)CCC>CCA		AHNAK nucleoprotein isoform 1							168.0	175.0	173.0					11																	62297926		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62297926G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3963C>A	11.37:g.62297926G>T						AHNAK_uc001ntk.1_Intron	p.P1321P	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	4263	-		Melanoma(852;0.155)	1321					A1A586	Silent	SNP	ENST00000378024.4	37	c.3963C>A	CCDS31584.1																																																																																				0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		33	80	1	0	1.03e-13	2.37e-12	33	80				
MACROD1	28992	broad.mit.edu	37	11	63919857	63919857	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:63919857T>G	ENST00000255681.6	-	2	373	c.307A>C	c.(307-309)Aag>Cag	p.K103Q	MACROD1_ENST00000538595.1_5'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	103					cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CTCAGGCCCTTCAGAAAGGCT	0.567																																						uc001nyh.2		NA																	0					0						c.(307-309)AAG>CAG		MACRO domain containing 1							93.0	89.0	90.0					11																	63919857		2201	4297	6498	SO:0001583	missense	28992							g.chr11:63919857T>G	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.307A>C	11.37:g.63919857T>G	ENSP00000255681:p.Lys103Gln						p.K103Q	NM_014067	NP_054786	Q9BQ69	MACD1_HUMAN			2	426	-			103					Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.307A>C	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.331935	0.41297	.	.	ENSG00000133315	ENST00000255681	T	0.19250	2.16	4.37	4.37	0.52481	.	0.574473	0.17835	N	0.160395	T	0.20170	0.0485	L	0.48642	1.525	0.34179	D	0.670695	B	0.14438	0.01	B	0.12156	0.007	T	0.14531	-1.0469	10	0.46703	T	0.11	-13.9675	11.4177	0.49962	0.0:0.0:0.0:1.0	.	103	Q9BQ69	MACD1_HUMAN	Q	103	ENSP00000255681:K103Q	ENSP00000255681:K103Q	K	-	1	0	MACROD1	63676433	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.206000	0.58473	1.761000	0.52028	0.374000	0.22700	AAG		0.567	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		13	47	0	0	0	0	13	47				
GAL3ST3	89792	broad.mit.edu	37	11	65810581	65810581	+	Silent	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:65810581C>T	ENST00000312006.4	-	3	974	c.693G>A	c.(691-693)gtG>gtA	p.V231V	GAL3ST3_ENST00000527878.1_Silent_p.V231V	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	231					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AAACCTCCTCCACCTGGCGGA	0.662																																						uc001ogv.2		NA																	0				ovary(1)	1						c.(691-693)GTG>GTA		galactose-3-O-sulfotransferase 3							34.0	38.0	37.0					11																	65810581		2199	4291	6490	SO:0001819	synonymous_variant	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65810581C>T	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.693G>A	11.37:g.65810581C>T						GAL3ST3_uc001ogw.2_Silent_p.V231V	p.V231V	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN			2	853	-			231			Lumenal (Potential).		Q14D05	Silent	SNP	ENST00000312006.4	37	c.693G>A	CCDS8128.1																																																																																				0.662	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		6	27	0	0	0	0	6	27				
DHCR7	1717	broad.mit.edu	37	11	71146483	71146483	+	Missense_Mutation	SNP	C	C	T	rs201847193		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:71146483C>T	ENST00000355527.3	-	9	1642	c.1366G>A	c.(1366-1368)Ggc>Agc	p.G456S	DHCR7_ENST00000407721.2_Missense_Mutation_p.G456S	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	456					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CAGTCCCGGCCGTACTTGCTG	0.657									Smith-Lemli-Opitz syndrome				C|||	1	0.000199681	0.0	0.0014	5008	,	,		17847	0.0		0.0	False		,,,				2504	0.0					uc001oqk.2		NA																	0				ovary(1)|liver(1)	2						c.(1366-1368)GGC>AGC		7-dehydrocholesterol reductase	NADH(DB00157)						41.0	44.0	43.0					11																	71146483		2197	4294	6491	SO:0001583	missense	1717	Smith-Lemli-Opitz_syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71146483C>T	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1366G>A	11.37:g.71146483C>T	ENSP00000347717:p.Gly456Ser					DHCR7_uc001oql.2_Missense_Mutation_p.G456S	p.G456S	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN			9	1616	-			456					B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.1366G>A	CCDS8200.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	33	5.215025	0.95104	.	.	ENSG00000172893	ENST00000407721;ENST00000355527	D;D	0.99507	-6.04;-6.04	5.12	5.12	0.69794	Sterol reductase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	H	0.95504	3.68	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.97549	1.0091	10	0.87932	D	0	-42.5001	16.0302	0.80572	0.0:1.0:0.0:0.0	.	456	Q9UBM7	DHCR7_HUMAN	S	456	ENSP00000384739:G456S;ENSP00000347717:G456S	ENSP00000347717:G456S	G	-	1	0	DHCR7	70824131	1.000000	0.71417	0.996000	0.52242	0.825000	0.46686	4.094000	0.57721	2.386000	0.81285	0.561000	0.74099	GGC		0.657	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		10	29	0	0	0	0	10	29				
SLC35F2	54733	broad.mit.edu	37	11	107682478	107682478	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:107682478T>A	ENST00000525815.1	-	3	749	c.329A>T	c.(328-330)aAg>aTg	p.K110M	SLC35F2_ENST00000429869.1_Missense_Mutation_p.K110M|SLC35F2_ENST00000525071.1_Missense_Mutation_p.K110M|SLC35F2_ENST00000375682.4_Missense_Mutation_p.K63M|SLC35F2_ENST00000265836.7_De_novo_Start_InFrame	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	110					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CAGGATGTACTTCCACCATTT	0.418																																						uc001pjq.2		NA																	0				central_nervous_system(1)	1						c.(328-330)AAG>ATG		solute carrier family 35, member F2							214.0	197.0	203.0					11																	107682478		1870	4103	5973	SO:0001583	missense	54733				transport	integral to membrane		g.chr11:107682478T>A		CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"""Solute carriers"""	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.329A>T	11.37:g.107682478T>A	ENSP00000436785:p.Lys110Met					SLC35F2_uc010rvu.1_Translation_Start_Site|SLC35F2_uc001pjs.2_Missense_Mutation_p.K110M	p.K110M	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)	3	750	-		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)	110			Helical; (Potential).		Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Missense_Mutation	SNP	ENST00000525815.1	37	c.329A>T	CCDS41709.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.847889	0.71603	.	.	ENSG00000110660	ENST00000525815;ENST00000525071;ENST00000375682;ENST00000429869	.	.	.	5.42	5.42	0.78866	.	0.048145	0.85682	D	0.000000	T	0.80722	0.4677	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.83854	0.0264	9	0.72032	D	0.01	.	15.4697	0.75432	0.0:0.0:0.0:1.0	.	110;110	E9PJD1;Q8IXU6	.;S35F2_HUMAN	M	110;110;63;110	.	ENSP00000364834:K63M	K	-	2	0	SLC35F2	107187688	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.673000	0.61604	2.067000	0.61834	0.454000	0.30748	AAG		0.418	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515		33	122	0	0	0	0	33	122				
PTS	5805	broad.mit.edu	37	11	112101363	112101363	+	Silent	SNP	G	G	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:112101363G>C	ENST00000280362.3	+	4	280	c.201G>C	c.(199-201)acG>acC	p.T67T	PTS_ENST00000524931.1_5'UTR|PTS_ENST00000525803.1_Intron	NM_000317.2	NP_000308.1	Q03393	PTPS_HUMAN	6-pyruvoyltetrahydropterin synthase	67			T -> M (in HPABH4A). {ECO:0000269|PubMed:11388593, ECO:0000269|PubMed:9222757}.		cellular amino acid metabolic process (GO:0006520)|central nervous system development (GO:0007417)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	6-pyruvoyltetrahydropterin synthase activity (GO:0003874)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|large_intestine(1)	2		all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519)		ACCCTGCTACGGGAATGGTTA	0.383																																						uc001pnj.3		NA																	0					0						c.(199-201)ACG>ACC		6-pyruvoyltetrahydropterin synthase							176.0	176.0	176.0					11																	112101363		2201	4297	6498	SO:0001819	synonymous_variant	5805				cellular amino acid metabolic process|central nervous system development|tetrahydrobiopterin biosynthetic process	mitochondrion	6-pyruvoyltetrahydropterin synthase activity|metal ion binding	g.chr11:112101363G>C	U63382	CCDS8359.1	11q22.3	2014-04-01				ENSG00000150787	4.2.3.12		9689	protein-coding gene	gene with protein product		612719				8188266	Standard	NM_000317		Approved	PTPS	uc001pnj.4	Q03393		ENST00000280362.3:c.201G>C	11.37:g.112101363G>C						PTS_uc009yyo.2_RNA	p.T67T	NM_000317	NP_000308	Q03393	PTPS_HUMAN		Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519)	4	280	+		all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	67		T -> M (in HPABH4A).			B0YJ87|Q8WVG8	Silent	SNP	ENST00000280362.3	37	c.201G>C	CCDS8359.1																																																																																				0.383	PTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393541.1	NM_000317		3	77	0	0	0	0	3	77				
APLP2	334	broad.mit.edu	37	11	129996669	129996669	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:129996669C>A	ENST00000263574.5	+	8	1237	c.1165C>A	c.(1165-1167)Cgc>Agc	p.R389S	APLP2_ENST00000543137.1_Missense_Mutation_p.R296S|APLP2_ENST00000539648.1_Missense_Mutation_p.R177S|APLP2_ENST00000345598.5_Missense_Mutation_p.R160S|APLP2_ENST00000338167.5_Missense_Mutation_p.R389S|APLP2_ENST00000528499.1_Missense_Mutation_p.R333S|APLP2_ENST00000278756.7_Missense_Mutation_p.R399S	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	389					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGAGCATGCTCGCTTCCAGAA	0.468																																						uc010sby.1		NA																	0				ovary(3)	3						c.(1165-1167)CGC>AGC		amyloid beta (A4) precursor-like protein 2							183.0	164.0	171.0					11																	129996669		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129996669C>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1165C>A	11.37:g.129996669C>A	ENSP00000263574:p.Arg389Ser					APLP2_uc001qfp.2_Missense_Mutation_p.R389S|APLP2_uc001qfq.2_Missense_Mutation_p.R333S|APLP2_uc010sbz.1_Missense_Mutation_p.R177S|APLP2_uc001qfr.2_Missense_Mutation_p.R155S|APLP2_uc001qfs.2_Missense_Mutation_p.R160S|APLP2_uc001qfv.2_Missense_Mutation_p.R280S	p.R389S	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	8	1322	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	389			Extracellular (Potential).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1165C>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950391	0.73787	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.39	3.4	0.38934	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	L	0.39898	1.24	0.80722	D	1	P;D;P;D;P;P;D	0.89917	0.505;1.0;0.873;0.97;0.896;0.904;0.995	B;D;B;P;P;B;P	0.91635	0.095;0.999;0.346;0.906;0.679;0.441;0.878	T	0.54450	-0.8292	10	0.49607	T	0.09	-12.5329	13.5312	0.61623	0.2829:0.7171:0.0:0.0	.	177;389;333;160;327;333;389	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	S	333;177;389;160;389;399;296	ENSP00000435914:R333S;ENSP00000443728:R177S;ENSP00000263574:R389S;ENSP00000263575:R160S;ENSP00000345444:R389S;ENSP00000278756:R399S;ENSP00000444122:R296S	ENSP00000263574:R389S	R	+	1	0	APLP2	129501879	1.000000	0.71417	0.817000	0.32601	0.984000	0.73092	4.647000	0.61418	1.236000	0.43740	0.561000	0.74099	CGC		0.468	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		7	104	1	0	0.000157383	0.0030423	7	104				
SNX19	399979	broad.mit.edu	37	11	130785040	130785040	+	Silent	SNP	C	C	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr11:130785040C>G	ENST00000265909.4	-	1	1364	c.795G>C	c.(793-795)gtG>gtC	p.V265V	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Silent_p.V265V|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	265	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AAAAGATACCCACGAGTACAA	0.552																																						uc001qgk.3		NA																	0				ovary(2)|lung(2)	4						c.(793-795)GTG>GTC		sorting nexin 19							82.0	85.0	84.0					11																	130785040		2201	4297	6498	SO:0001819	synonymous_variant	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785040C>G	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.795G>C	11.37:g.130785040C>G						SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Silent_p.V265V|SNX19_uc009zcx.1_Intron	p.V265V	NM_014758	NP_055573	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1343	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	265			PXA.		E9PKB9|Q8IV55	Silent	SNP	ENST00000265909.4	37	c.795G>C	CCDS31721.1																																																																																				0.552	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		4	65	0	0	0	0	4	65				
GALNT8	26290	broad.mit.edu	37	12	4835909	4835909	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:4835909G>C	ENST00000252318.2	+	2	760	c.423G>C	c.(421-423)caG>caC	p.Q141H	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	141					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AGGCGGCCCAGGACCTCTTCC	0.547																																					Colon(108;631 1558 7270 20097 39846)	uc001qne.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(421-423)CAG>CAC		polypeptide N-acetylgalactosaminyltransferase 8							70.0	65.0	66.0					12																	4835909		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4835909G>C	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.423G>C	12.37:g.4835909G>C	ENSP00000252318:p.Gln141His						p.Q141H	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			2	515	+			141			Lumenal (Potential).		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.423G>C	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827550	0.50845	.	.	ENSG00000130035	ENST00000252318	T	0.54479	0.57	4.02	2.06	0.26882	.	0.225767	0.28047	N	0.016810	T	0.51907	0.1702	M	0.69523	2.12	0.09310	N	1	P	0.51351	0.944	P	0.48030	0.564	T	0.47573	-0.9107	10	0.59425	D	0.04	.	4.8901	0.13722	0.1145:0.0:0.6779:0.2076	.	141	Q9NY28	GALT8_HUMAN	H	141	ENSP00000252318:Q141H	ENSP00000252318:Q141H	Q	+	3	2	GALNT8	4706170	0.026000	0.19158	0.944000	0.38274	0.915000	0.54546	1.305000	0.33493	0.905000	0.36596	-0.136000	0.14681	CAG		0.547	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		4	21	0	0	0	0	4	21				
LTBR	4055	broad.mit.edu	37	12	6495602	6495602	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:6495602A>G	ENST00000228918.4	+	6	985	c.659A>G	c.(658-660)gAg>gGg	p.E220G	LTBR_ENST00000541102.1_Missense_Mutation_p.E113G|LTBR_ENST00000539925.1_Missense_Mutation_p.E201G|LTBR_ENST00000543190.1_3'UTR	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	220					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CTGCCCCCAGAGATGTCAGGT	0.547																																						uc001qny.1		NA																	0				lung(2)	2						c.(658-660)GAG>GGG		lymphotoxin beta receptor precursor							47.0	45.0	46.0					12																	6495602		2203	4300	6503	SO:0001583	missense	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6495602A>G	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.659A>G	12.37:g.6495602A>G	ENSP00000228918:p.Glu220Gly					LTBR_uc010sfc.1_Missense_Mutation_p.E201G|LTBR_uc001qnz.1_Missense_Mutation_p.E215G	p.E220G	NM_002342	NP_002333	P36941	TNR3_HUMAN			6	827	+			220			Extracellular (Potential).		B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	c.659A>G	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	A	9.140	1.013612	0.19277	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343;ENST00000536876;ENST00000541102	D;D;D;T	0.90385	-2.28;-2.28;-2.66;-0.29	4.12	2.95	0.34219	.	4.509780	0.00695	N	0.000758	D	0.85831	0.5788	L	0.34521	1.04	0.22562	N	0.998989	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.09377	0.004;0.002;0.002	T	0.68239	-0.5461	10	0.26408	T	0.33	0.0887	6.3803	0.21531	0.8827:0.0:0.1173:0.0	.	201;201;220	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	G	201;220;113;215;113	ENSP00000440875:E201G;ENSP00000228918:E220G;ENSP00000437647:E215G;ENSP00000438605:E113G	ENSP00000228918:E220G	E	+	2	0	LTBR	6365863	0.808000	0.29022	0.781000	0.31783	0.046000	0.14306	3.533000	0.53561	0.466000	0.27193	-0.441000	0.05720	GAG		0.547	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			6	7	0	0	0	0	6	7				
PRH1	5554	broad.mit.edu	37	12	11035684	11035684	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:11035684C>A	ENST00000428168.2	-	2	113	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	26	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space (GO:0005615)				endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		GGAACATCTTCCTGGCTGACA	0.398																																						uc001qzc.2		NA																	0					0						c.(76-78)GAA>TAA		proline-rich protein HaeIII subfamily 1							141.0	141.0	141.0					12																	11035684		2203	4300	6503	SO:0001587	stop_gained	5554					extracellular space	protein binding	g.chr12:11035684C>A			12p13.2	2013-05-10			ENSG00000231887	ENSG00000231887			9366	protein-coding gene	gene with protein product		168730				3009472	Standard	NM_001291314		Approved	Pa	uc021qvf.1	P02810		ENST00000428168.2:c.76G>T	12.37:g.11035684C>A	ENSP00000412436:p.Glu26*					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_RNA|PRB4_uc001qzf.1_Intron	p.E26*	NM_006250	NP_006241	P02810	PRPC_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.245)	6	664	-			26			Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.		A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Nonsense_Mutation	SNP	ENST00000428168.2	37	c.76G>T		.	.	.	.	.	.	.	.	.	.	C	12.97	2.098640	0.37048	.	.	ENSG00000231887	ENST00000428168	.	.	.	0.871	0.871	0.19107	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.0512	0.14508	0.0:1.0:0.0:0.0	.	.	.	.	X	26	.	ENSP00000412436:E26X	E	-	1	0	PRH1	10926951	0.006000	0.16342	0.002000	0.10522	0.013000	0.08279	1.186000	0.32078	0.742000	0.32697	0.313000	0.20887	GAA		0.398	PRH1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006250		15	54	1	0	2.94e-08	6.55e-07	15	54				
PRB3	5544	broad.mit.edu	37	12	11420146	11420146	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:11420146G>C	ENST00000381842.3	-	5	947	c.910C>G	c.(910-912)Cag>Gag	p.Q304E	PRB3_ENST00000538488.1_Missense_Mutation_p.Q304E|PRB3_ENST00000279573.7_3'UTR|PRB3_ENST00000440870.3_5'UTR	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	304	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGCTGTCCCTGGGGAGGTCTG	0.552																																						uc001qzs.2		NA																	0				skin(1)	1						c.(910-912)CAG>GAG		proline-rich protein BstNI subfamily 3							86.0	97.0	93.0					12																	11420146		2200	4299	6499	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420146G>C			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000381842.3:c.910C>G	12.37:g.11420146G>C	ENSP00000371264:p.Gln304Glu					PRB4_uc001qzf.1_Intron	p.Q304E	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		4	948	-			304			Pro-rich.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000381842.3	37	c.910C>G		.	.	.	.	.	.	.	.	.	.	.	6.121	0.390555	0.11581	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.05855	3.38;3.38	1.5	0.379	0.16213	.	.	.	.	.	T	0.02380	0.0073	.	.	.	0.09310	N	1	P	0.39424	0.673	B	0.34991	0.193	T	0.35425	-0.9789	8	0.07482	T	0.82	.	4.8876	0.13710	0.0:0.0:0.5536:0.4464	.	304	Q04118	PRB3_HUMAN	E	304	ENSP00000371264:Q304E;ENSP00000442626:Q304E	ENSP00000371264:Q304E	Q	-	1	0	PRB3	11311413	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.326000	0.07965	0.103000	0.17682	0.306000	0.20318	CAG		0.552	PRB3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006249		14	30	0	0	0	0	14	30				
LDHB	3945	broad.mit.edu	37	12	21788507	21788507	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:21788507C>A	ENST00000396076.1	-	8	1306	c.974G>T	c.(973-975)tGg>tTg	p.W325L	LDHB_ENST00000350669.1_Missense_Mutation_p.W325L	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	325			W -> R (in LDHB deficiency).		cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						CTGGATGTCCCACAGGGTATC	0.438																																						uc001rfc.2		NA																	0				breast(2)|ovary(1)	3						c.(973-975)TGG>TTG		L-lactate dehydrogenase B	NADH(DB00157)						183.0	163.0	170.0					12																	21788507		2203	4300	6503	SO:0001583	missense	3945				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	g.chr12:21788507C>A		CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.974G>T	12.37:g.21788507C>A	ENSP00000379386:p.Trp325Leu					LDHB_uc001rfd.2_Missense_Mutation_p.W325L|LDHB_uc001rfe.2_Missense_Mutation_p.W325L	p.W325L	NM_002300	NP_002291	P07195	LDHB_HUMAN			7	992	-			325		W -> R (in LDHB deficiency).				Missense_Mutation	SNP	ENST00000396076.1	37	c.974G>T	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891186	0.91889	.	.	ENSG00000111716	ENST00000396076;ENST00000350669	T;T	0.65178	-0.14;-0.14	5.37	5.37	0.77165	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.051682	0.85682	D	0.000000	T	0.73644	0.3613	M	0.79011	2.435	0.80722	D	1	D	0.62365	0.991	P	0.53549	0.729	T	0.71108	-0.4688	10	0.21014	T	0.42	.	19.1802	0.93620	0.0:1.0:0.0:0.0	.	325	P07195	LDHB_HUMAN	L	325	ENSP00000379386:W325L;ENSP00000229319:W325L	ENSP00000229319:W325L	W	-	2	0	LDHB	21679774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.745000	0.85046	2.515000	0.84797	0.644000	0.83932	TGG		0.438	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		8	144	1	0	0.000442599	0.00827283	8	144				
KIAA1551	55196	broad.mit.edu	37	12	32135423	32135423	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:32135423A>T	ENST00000312561.4	+	4	1948	c.1534A>T	c.(1534-1536)Aag>Tag	p.K512*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	512																	CTATTCTGAAAAGCGGCCAAT	0.388																																						uc001rks.2		NA																	0				ovary(1)|skin(1)	2						c.(1534-1536)AAG>TAG		hypothetical protein LOC55196							60.0	60.0	60.0					12																	32135423		2203	4300	6503	SO:0001587	stop_gained	55196							g.chr12:32135423A>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1534A>T	12.37:g.32135423A>T	ENSP00000310338:p.Lys512*						p.K512*	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	1948	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		512					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	ENST00000312561.4	37	c.1534A>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	38	6.826161	0.97865	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	.	.	.	4.76	2.2	0.27929	.	0.802209	0.10177	N	0.706305	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.6131	0.08067	0.6448:0.2258:0.1294:0.0	.	.	.	.	X	512	.	.	K	+	1	0	C12orf35	32026690	0.016000	0.18221	0.006000	0.13384	0.014000	0.08584	0.377000	0.20552	0.667000	0.31107	0.460000	0.39030	AAG		0.388	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		10	55	0	0	0	0	10	55				
PDZRN4	29951	broad.mit.edu	37	12	41966845	41966845	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:41966845C>A	ENST00000402685.2	+	10	2272	c.2264C>A	c.(2263-2265)tCc>tAc	p.S755Y	PDZRN4_ENST00000539469.2_Missense_Mutation_p.S497Y|PDZRN4_ENST00000298919.7_Missense_Mutation_p.S495Y	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	755							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTAGACCGTTCCCCTGACAGT	0.498																																						uc010skn.1		NA																	0				lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(1666-1668)TCC>TAC		PDZ domain containing RING finger 4 isoform 2							102.0	98.0	100.0					12																	41966845		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966845C>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2264C>A	12.37:g.41966845C>A	ENSP00000384197:p.Ser755Tyr					PDZRN4_uc001rmq.3_Missense_Mutation_p.S497Y|PDZRN4_uc009zjz.2_Missense_Mutation_p.S495Y|PDZRN4_uc001rmr.2_Missense_Mutation_p.S382Y	p.S556Y	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	1735	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	755					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1667C>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633876	0.47049	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73897	-0.79;3.69;3.69	5.34	4.45	0.53987	.	0.175042	0.41097	D	0.000953	D	0.86952	0.6057	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;0.991;0.991	D;D;D	0.87578	0.998;0.953;0.953	D	0.89218	0.3569	10	0.72032	D	0.01	-24.1737	14.5399	0.67984	0.0:0.9286:0.0:0.0714	.	755;495;497	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Y	755;497;495	ENSP00000384197:S755Y;ENSP00000439990:S497Y;ENSP00000298919:S495Y	ENSP00000298919:S495Y	S	+	2	0	PDZRN4	40253112	1.000000	0.71417	0.998000	0.56505	0.353000	0.29299	7.776000	0.85560	1.575000	0.49775	0.650000	0.86243	TCC		0.498	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		8	35	1	0	1.13e-05	0.000231687	8	35				
COPZ1	22818	broad.mit.edu	37	12	54744287	54744287	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:54744287A>G	ENST00000262061.2	+	9	551	c.514A>G	c.(514-516)Aag>Gag	p.K172E	COPZ1_ENST00000416254.2_Missense_Mutation_p.K121E|COPZ1_ENST00000552218.1_Missense_Mutation_p.K193E|COPZ1_ENST00000549043.1_Missense_Mutation_p.K180E|COPZ1_ENST00000551779.1_3'UTR|COPZ1_ENST00000549116.1_Missense_Mutation_p.K114E|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000455864.2_Missense_Mutation_p.K149E|COPZ1_ENST00000548753.1_Missense_Mutation_p.K84E|COPZ1_ENST00000552362.1_Missense_Mutation_p.K155E	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	172					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)				kidney(1)|lung(4)	5						AGAACAGATCAAGTGGTCACT	0.493																																						uc001sfs.1		NA																	0					0						c.(514-516)AAG>GAG		coatomer protein complex, subunit zeta 1							263.0	221.0	235.0					12																	54744287		2203	4300	6503	SO:0001583	missense	22818				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol		g.chr12:54744287A>G	AF151878	CCDS8877.1, CCDS61137.1, CCDS61138.1, CCDS61139.1	12q13.2-q13.3	2008-02-05		2003-07-23					2243	protein-coding gene	gene with protein product		615472	"""coatomer protein complex, subunit zeta"""	COPZ			Standard	NM_001271734		Approved	CGI-120	uc009znm.2	P61923		ENST00000262061.2:c.514A>G	12.37:g.54744287A>G	ENSP00000262061:p.Lys172Glu					COPZ1_uc001sft.2_Missense_Mutation_p.K121E|COPZ1_uc009znm.1_Missense_Mutation_p.K180E|COPZ1_uc010sot.1_Missense_Mutation_p.K149E	p.K172E	NM_016057	NP_057141	P61923	COPZ1_HUMAN			9	551	+			172					B4DDX8|B4DHZ0|F8VS17|F8VWL5|Q549N6|Q9Y3C3	Missense_Mutation	SNP	ENST00000262061.2	37	c.514A>G	CCDS8877.1	.	.	.	.	.	.	.	.	.	.	A	13.56	2.272516	0.40194	.	.	ENSG00000111481	ENST00000262061;ENST00000549043;ENST00000552218;ENST00000552362;ENST00000455864;ENST00000416254;ENST00000549116;ENST00000548753	.	.	.	4.64	4.64	0.57946	.	0.108919	0.64402	D	0.000010	T	0.66577	0.2803	M	0.88842	2.985	0.80722	D	1	B;B;B;B	0.31503	0.018;0.071;0.326;0.006	B;B;B;B	0.29716	0.025;0.106;0.105;0.025	T	0.70898	-0.4747	9	0.49607	T	0.09	-11.633	12.3606	0.55201	1.0:0.0:0.0:0.0	.	149;180;121;172	B4DDX8;F8VWL5;B4DHZ0;P61923	.;.;.;COPZ1_HUMAN	E	172;180;193;155;149;121;114;84	.	ENSP00000262061:K172E	K	+	1	0	COPZ1	53030554	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.570000	0.82390	2.094000	0.63399	0.454000	0.30748	AAG		0.493	COPZ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405753.1	NM_016057		8	112	0	0	0	0	8	112				
MON2	23041	broad.mit.edu	37	12	62938684	62938684	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:62938684C>T	ENST00000393632.2	+	21	2864	c.2473C>T	c.(2473-2475)Cag>Tag	p.Q825*	MON2_ENST00000280379.6_Nonsense_Mutation_p.Q826*|RNU6-399P_ENST00000365164.1_RNA|MON2_ENST00000552738.1_Nonsense_Mutation_p.Q802*|MON2_ENST00000552115.1_Nonsense_Mutation_p.Q825*|MON2_ENST00000393630.3_Nonsense_Mutation_p.Q826*|MON2_ENST00000393629.2_Nonsense_Mutation_p.Q825*|MON2_ENST00000546600.1_Nonsense_Mutation_p.Q825*	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	825					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TCAGGTCTGCCAGCATCCAAA	0.333																																						uc001sre.2		NA																	0				central_nervous_system(2)	2						c.(2473-2475)CAG>TAG		MON2 homolog							51.0	52.0	51.0					12																	62938684		2202	4300	6502	SO:0001587	stop_gained	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62938684C>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.2473C>T	12.37:g.62938684C>T	ENSP00000377252:p.Gln825*					MON2_uc009zqj.2_Nonsense_Mutation_p.Q825*|MON2_uc010ssl.1_Nonsense_Mutation_p.Q753*|MON2_uc010ssm.1_Nonsense_Mutation_p.Q802*|MON2_uc010ssn.1_Nonsense_Mutation_p.Q825*|MON2_uc001srf.2_Nonsense_Mutation_p.Q588*	p.Q825*	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	21	2864	+			826					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Nonsense_Mutation	SNP	ENST00000393632.2	37	c.2473C>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	44	10.958739	0.99494	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.2721	19.9659	0.97266	0.0:1.0:0.0:0.0	.	.	.	.	X	825;826;826;825;802;825;825	.	.	Q	+	1	0	MON2	61224951	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	2.711000	0.92665	0.650000	0.86243	CAG		0.333	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		12	40	0	0	0	0	12	40				
GRIP1	23426	broad.mit.edu	37	12	66770984	66770984	+	Silent	SNP	G	G	A	rs369702702		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:66770984G>A	ENST00000398016.3	-	20	2615	c.2547C>T	c.(2545-2547)tgC>tgT	p.C849C	GRIP1_ENST00000286445.7_Silent_p.C901C|GRIP1_ENST00000359742.4_Silent_p.C901C	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTGACTGTCCGCAGGTTTCCA	0.443																																						uc001stk.2		NA																	0				ovary(2)	2						c.(2545-2547)TGC>TGT		glutamate receptor interacting protein 1		G	,	0,3748		0,0,1874	193.0	193.0	193.0		2547,2547	-2.1	1.0	12		193	1,8203		0,1,4101	no	coding-synonymous,coding-synonymous	GRIP1	NM_001178074.1,NM_021150.3	,	0,1,5975	AA,AG,GG		0.0122,0.0,0.0084	,	849/1062,849/1077	66770984	1,11951	1874	4102	5976	SO:0001819	synonymous_variant	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66770984G>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2547C>T	12.37:g.66770984G>A						GRIP1_uc010sta.1_Silent_p.C793C|GRIP1_uc001stj.2_Silent_p.C631C|GRIP1_uc001stl.1_Silent_p.C741C|GRIP1_uc001stm.2_Silent_p.C849C	p.C849C	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	20	2788	-			901					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	c.2547C>T	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.323179	0.01320	0.0	1.22E-4	ENSG00000155974	ENST00000538164	.	.	.	5.81	-2.14	0.07123	.	.	.	.	.	T	0.63307	0.2500	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60905	-0.7170	4	.	.	.	-11.7972	13.0651	0.59028	0.4638:0.0:0.5362:0.0	.	.	.	.	V	716	.	.	A	-	2	0	GRIP1	65057251	0.986000	0.35501	0.990000	0.47175	0.074000	0.17049	0.392000	0.20801	-0.376000	0.07943	-0.345000	0.07892	GCG		0.443	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			37	166	0	0	0	0	37	166				
METTL25	84190	broad.mit.edu	37	12	82870447	82870447	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:82870447T>A	ENST00000248306.3	+	10	1666	c.1597T>A	c.(1597-1599)Tac>Aac	p.Y533N		NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	533							methyltransferase activity (GO:0008168)										TATAATGAACTACTACGAGAA	0.284																																						uc001szq.2		NA																	0					0						c.(1597-1599)TAC>AAC		hypothetical protein LOC84190							43.0	46.0	45.0					12																	82870447		2202	4287	6489	SO:0001583	missense	84190							g.chr12:82870447T>A	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1597T>A	12.37:g.82870447T>A	ENSP00000248306:p.Tyr533Asn						p.Y533N	NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN			10	1618	+			533					Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.1597T>A	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015153	0.75161	.	.	ENSG00000127720	ENST00000248306	T	0.36340	1.26	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.63414	0.2509	M	0.85945	2.785	0.58432	D	0.999999	D	0.71674	0.998	D	0.69654	0.965	T	0.65207	-0.6224	10	0.36615	T	0.2	-8.4787	16.2981	0.82786	0.0:0.0:0.0:1.0	.	533	Q8N6Q8	CL026_HUMAN	N	533	ENSP00000248306:Y533N	ENSP00000248306:Y533N	Y	+	1	0	C12orf26	81394578	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.594000	0.74104	2.257000	0.74773	0.523000	0.50628	TAC		0.284	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		18	95	0	0	0	0	18	95				
CRY1	1407	broad.mit.edu	37	12	107395137	107395137	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:107395137G>T	ENST00000008527.5	-	5	1472	c.605C>A	c.(604-606)aCa>aAa	p.T202K		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	202					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TAAGCCATCTGTATCAAAACC	0.343																																						uc001tmi.3		NA																	0				ovary(3)	3						c.(604-606)ACA>AAA		cryptochrome 1 (photolyase-like)							88.0	91.0	90.0					12																	107395137		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107395137G>T	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.605C>A	12.37:g.107395137G>T	ENSP00000008527:p.Thr202Lys						p.T202K	NM_004075	NP_004066	Q16526	CRY1_HUMAN			5	1464	-			202						Missense_Mutation	SNP	ENST00000008527.5	37	c.605C>A	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538443	0.45176	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.72	5.72	0.89469	DNA photolyase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66015	0.2747	M	0.79805	2.47	0.80722	D	1	B	0.15719	0.014	B	0.17098	0.017	T	0.63042	-0.6725	9	0.05959	T	0.93	-15.8955	16.1541	0.81644	0.0:0.0:0.8661:0.1339	.	202	Q16526	CRY1_HUMAN	K	202	.	ENSP00000008527:T202K	T	-	2	0	CRY1	105919267	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.564000	0.73969	2.695000	0.91970	0.557000	0.71058	ACA		0.343	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		5	73	1	0	0.000274275	0.00521276	5	73				
SFSWAP	6433	broad.mit.edu	37	12	132238982	132238982	+	Silent	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr12:132238982C>T	ENST00000261674.4	+	9	1533	c.1392C>T	c.(1390-1392)gcC>gcT	p.A464A	RP11-495K9.5_ENST00000537032.1_lincRNA|SFSWAP_ENST00000541286.1_Silent_p.A464A	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	464					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						ACAAGCTGGCCGAGTATGTCG	0.557																																						uc001uja.1		NA																	0					0						c.(1390-1392)GCC>GCT		splicing factor, arginine/serine-rich 8							49.0	51.0	50.0					12																	132238982		2203	4300	6503	SO:0001819	synonymous_variant	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132238982C>T	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1392C>T	12.37:g.132238982C>T						SFRS8_uc010tbn.1_Silent_p.A464A|SFRS8_uc001ujb.1_Silent_p.A257A|SFRS8_uc001uiz.1_Silent_p.A338A	p.A464A	NM_004592	NP_004583	Q12872	SFSWA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	9	1532	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		464			SURP motif 2.		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Silent	SNP	ENST00000261674.4	37	c.1392C>T	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	C	9.084	1.000014	0.19121	.	.	ENSG00000061936	ENST00000537164	.	.	.	5.65	-4.99	0.03010	.	.	.	.	.	T	0.37758	0.1015	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34875	-0.9811	4	.	.	.	-22.2306	2.2403	0.04018	0.1994:0.4094:0.1978:0.1934	.	.	.	.	L	104	.	.	P	+	2	0	SFSWAP	130804935	0.004000	0.15560	0.915000	0.36163	0.674000	0.39518	-1.169000	0.03120	-1.124000	0.02936	-1.097000	0.02148	CCG		0.557	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		4	33	0	0	0	0	4	33				
BRCA2	675	broad.mit.edu	37	13	32971100	32971100	+	Silent	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr13:32971100C>A	ENST00000380152.3	+	26	9800	c.9567C>A	c.(9565-9567)ccC>ccA	p.P3189P	BRCA2_ENST00000544455.1_Silent_p.P3189P			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3189					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAAATGATCCCAAGTGGTCCA	0.378			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(9565-9567)CCC>CCA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							248.0	241.0	243.0					13																	32971100		2203	4300	6503	SO:0001819	synonymous_variant	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32971100C>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9567C>A	13.37:g.32971100C>A		TCGA Ovarian(8;0.087)					p.P3189P	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	26	9794	+		Lung SC(185;0.0262)	3189					O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.9567C>A	CCDS9344.1																																																																																				0.378	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		10	192	1	0	0.00010058	0.00197235	10	192				
POSTN	10631	broad.mit.edu	37	13	38138655	38138655	+	Splice_Site	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr13:38138655C>T	ENST00000379747.4	-	22	2591		c.e22+1		POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AATACACTTACCTTGAACTTT	0.323																																						uc001uwo.3		NA																	0				ovary(2)	2						c.e22+1		periostin, osteoblast specific factor isoform 1							177.0	160.0	166.0					13																	38138655		2203	4299	6502	SO:0001630	splice_region_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38138655C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2473+1G>A	13.37:g.38138655C>T						POSTN_uc010tet.1_Splice_Site_p.G326_splice|POSTN_uc001uwp.3_Splice_Site_p.G768_splice|POSTN_uc001uwr.2_Splice_Site_p.G770_splice|POSTN_uc001uwq.2_Splice_Site_p.G740_splice	p.G825_splice	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	22	2591	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)						B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Splice_Site	SNP	ENST00000379747.4	37	c.2473_splice	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	8.892	0.954264	0.18431	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9644	0.58475	0.162:0.838:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POSTN	37036655	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	3.868000	0.56055	2.650000	0.89964	0.555000	0.69702	.		0.323	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	Intron	28	96	0	0	0	0	28	96				
SLC39A2	29986	broad.mit.edu	37	14	21469108	21469109	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:21469108_21469109GG>TT	ENST00000298681.4	+	4	457_458	c.300_301GG>TT	c.(298-303)atGGag>atTTag	p.100_101ME>I*	SLC39A2_ENST00000554422.1_3'UTR|RP11-84C10.4_ENST00000557335.1_RNA	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	100					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GTTTCTAGATGGAGTATCCCTA	0.47																																						uc001vyr.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(298-303)ATGGAG>ATTTAG		solute carrier family 39 (zinc transporter),																																				SO:0001587	stop_gained	29986					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	g.chr14:21469108_21469109GG>TT	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	Exception_encountered	14.37:g.21469108_21469109delinsTT	ENSP00000298681:p.M100_E101delinsI*					SLC39A2_uc001vys.2_Nonsense_Mutation_p.1_2ME>I*	p.100_101ME>I*	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	4	487_488	+	all_cancers(95;0.00267)		100_101			Extracellular (Potential).		B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Nonsense_Mutation	DNP	ENST00000298681.4	37	c.300_301GG>TT	CCDS9563.1																																																																																				0.470	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		14	366	0	0	0	0	14	366				
CHD8	57680	broad.mit.edu	37	14	21874023	21874023	+	Splice_Site	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:21874023C>A	ENST00000557364.1	-	15	3171	c.2908G>T	c.(2908-2910)Gaa>Taa	p.E970*	CHD8_ENST00000399982.2_Splice_Site_p.E970*|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Splice_Site_p.E691*			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	970	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ACCTTGTGTTCCTAGAAATGG	0.338																																						uc001was.1		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(2071-2073)GAA>TAA		chromodomain helicase DNA binding protein 8							88.0	84.0	85.0					14																	21874023		1829	4084	5913	SO:0001630	splice_region_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21874023C>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2908-1G>T	14.37:g.21874023C>A						CHD8_uc001war.1_Nonsense_Mutation_p.E587*|CHD8_uc001wav.1_Nonsense_Mutation_p.E133*	p.E691*	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	15	2165	-	all_cancers(95;0.00121)		970			Helicase ATP-binding.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Nonsense_Mutation	SNP	ENST00000557364.1	37	c.2071G>T	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.994103|4.994103	0.93167|0.93167	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.050457|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74359	.|0.3706	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72057	.|-0.4405	.|3	0.49607|.	T|.	0.09|.	-23.6487|-23.6487	18.1775|18.1775	0.89766|0.89766	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	691;970;690;970|195	.|.	ENSP00000262707:E690X|.	E|G	-|-	1|2	0|0	CHD8|CHD8	20943863|20943863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.847000|0.847000	0.48162|0.48162	7.651000|7.651000	0.83577|0.83577	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.338	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	Nonsense_Mutation	18	32	1	0	9.17e-09	2.06e-07	18	32				
DHRS4L1	728635	broad.mit.edu	37	14	24511906	24511906	+	RNA	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:24511906C>T	ENST00000558293.1	+	0	437					NR_102693.1																						GGCTATGAAGCTTCATGGAGT	0.448																																						uc010alc.2		NA																	0					0						c.(316-318)CTT>TTT		dehydrogenase/reductase (SDR family) member 4							190.0	189.0	189.0					14																	24511906		2203	4300	6503			728635						binding|oxidoreductase activity	g.chr14:24511906C>T																													14.37:g.24511906C>T						DHRS4L1_uc010tnu.1_Intron	p.L106F	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN			3	316	+			106						Missense_Mutation	SNP	ENST00000558293.1	37	c.316C>T		.	.	.	.	.	.	.	.	.	.	C	6.958	0.546703	0.13312	.	.	ENSG00000225766	ENST00000397065	.	.	.	2.3	2.3	0.28687	NAD(P)-binding domain (1);	.	.	.	.	T	0.42966	0.1226	L	0.38175	1.15	.	.	.	B	0.19583	0.037	B	0.28991	0.097	T	0.54470	-0.8289	7	0.62326	D	0.03	.	8.2331	0.31610	0.0:1.0:0.0:0.0	.	106	P0CG22	DR4L1_HUMAN	F	106	.	ENSP00000380255:L106F	L	+	1	0	AL136295.1	23581746	0.242000	0.23868	0.006000	0.13384	0.119000	0.20118	2.648000	0.46647	1.602000	0.50124	0.400000	0.26472	CTT		0.448	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			18	98	0	0	0	0	18	98				
DDHD1	80821	broad.mit.edu	37	14	53527915	53527915	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:53527915T>C	ENST00000323669.5	-	8	1770	c.1771A>G	c.(1771-1773)Aag>Gag	p.K591E	DDHD1_ENST00000357758.3_Missense_Mutation_p.K591E|DDHD1_ENST00000395606.1_Missense_Mutation_p.K598E	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	591					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCTATTTCCTTCAGCCTAAGA	0.348																																						uc001xai.2		NA																	0				ovary(2)	2						c.(1771-1773)AAG>GAG		DDHD domain containing 1 isoform c							155.0	141.0	146.0					14																	53527915		2203	4300	6503	SO:0001583	missense	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53527915T>C	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1771A>G	14.37:g.53527915T>C	ENSP00000327104:p.Lys591Glu					DDHD1_uc001xaj.2_Missense_Mutation_p.K598E|DDHD1_uc001xah.2_Missense_Mutation_p.K591E|DDHD1_uc001xag.2_Missense_Mutation_p.K173E|DDHD1_uc001xak.1_5'UTR	p.K591E	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN			8	2001	-	Breast(41;0.037)		591					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.1771A>G	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577856	0.28180	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	6.07	3.64	0.41730	.	0.273612	0.46442	D	0.000286	T	0.41259	0.1151	N	0.22421	0.69	0.50039	D	0.999849	B;B;B	0.15930	0.015;0.009;0.015	B;B;B	0.23419	0.029;0.031;0.046	T	0.11275	-1.0594	9	0.11794	T	0.64	-5.4306	12.4238	0.55534	0.0:0.0:0.2659:0.7341	.	598;591;591	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	E	591;598;591;462	.	ENSP00000327104:K591E	K	-	1	0	DDHD1	52597665	1.000000	0.71417	0.907000	0.35723	0.332000	0.28634	2.505000	0.45424	0.495000	0.27882	0.533000	0.62120	AAG		0.348	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			15	79	0	0	0	0	15	79				
SLC35F4	341880	broad.mit.edu	37	14	58060704	58060704	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:58060704C>A	ENST00000339762.6	-	2	349	c.350G>T	c.(349-351)gGa>gTa	p.G117V	SLC35F4_ENST00000557430.1_5'Flank|SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000556826.1_Missense_Mutation_p.G81V			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	117					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCTGAGGATCCTTGGTTTTG	0.468																																						uc001xdb.1		NA																	0				ovary(2)	2						c.(349-351)GGA>GTA		solute carrier family 35, member F4							93.0	94.0	94.0					14																	58060704		1949	4136	6085	SO:0001583	missense	341880							g.chr14:58060704C>A			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.350G>T	14.37:g.58060704C>A	ENSP00000342518:p.Gly117Val					SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_5'UTR	p.G117V	NM_001080455	NP_001073924					2	350	-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37	c.350G>T		.	.	.	.	.	.	.	.	.	.	C	16.70	3.196098	0.58126	.	.	ENSG00000151812	ENST00000556826;ENST00000339762	T;T	0.52983	0.76;0.64	5.83	5.83	0.93111	.	0.367653	0.28790	N	0.014125	T	0.37348	0.1000	L	0.29908	0.895	0.58432	D	0.999995	P	0.34462	0.454	B	0.24974	0.057	T	0.24297	-1.0164	10	0.52906	T	0.07	-13.387	18.2945	0.90140	0.0:1.0:0.0:0.0	.	117	A4IF30	S35F4_HUMAN	V	81;117	ENSP00000452086:G81V;ENSP00000342518:G117V	ENSP00000342518:G117V	G	-	2	0	SLC35F4	57130457	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	3.163000	0.50763	2.763000	0.94921	0.585000	0.79938	GGA		0.468	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		7	35	1	0	0.000157383	0.0030423	7	35				
SYNE2	23224	broad.mit.edu	37	14	64443439	64443439	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:64443439A>T	ENST00000344113.4	+	12	1499	c.1287A>T	c.(1285-1287)ttA>ttT	p.L429F	SYNE2_ENST00000358025.3_Missense_Mutation_p.L429F|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L429F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	429					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)		AAATGACTTTATTCAAGGTTG	0.383																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(1285-1287)TTA>TTT		spectrin repeat containing, nuclear envelope 2							124.0	119.0	121.0					14																	64443439		1830	4084	5914	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64443439A>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.1287A>T	14.37:g.64443439A>T	ENSP00000341781:p.Leu429Phe					SYNE2_uc001xgl.2_Missense_Mutation_p.L429F	p.L429F	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)	12	1517	+			429			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.1287A>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.211679	0.39102	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.58652	0.67;0.67;0.32	5.23	2.85	0.33270	.	0.622148	0.13284	N	0.399495	T	0.55689	0.1936	L	0.56769	1.78	0.42380	D	0.992485	P;P	0.43701	0.718;0.815	B;P	0.48840	0.387;0.592	T	0.47100	-0.9143	10	0.20519	T	0.43	.	4.5821	0.12264	0.6584:0.1634:0.1781:0.0	.	429;429	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	F	429	ENSP00000350719:L429F;ENSP00000341781:L429F;ENSP00000452570:L429F	ENSP00000261678:L429F	L	+	3	2	SYNE2	63513192	0.988000	0.35896	0.986000	0.45419	0.984000	0.73092	1.790000	0.38734	0.303000	0.22785	0.459000	0.35465	TTA		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		14	142	0	0	0	0	14	142				
GSC	145258	broad.mit.edu	37	14	95234883	95234883	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:95234883G>A	ENST00000238558.3	-	3	928	c.719C>T	c.(718-720)gCg>gTg	p.A240V		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	240					dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|gastrulation (GO:0007369)|middle ear morphogenesis (GO:0042474)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell fate specification (GO:0014036)|signal transduction involved in regulation of gene expression (GO:0023019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		CTCCGGTGACGCCTTCGACGA	0.572																																					Pancreas(105;2165 2186 4892 18008)	uc001ydu.2		NA																	0					0						c.(718-720)GCG>GTG		goosecoid							180.0	152.0	162.0					14																	95234883		2203	4300	6503	SO:0001583	missense	145258				gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:95234883G>A		CCDS9930.1	14q32.13	2011-06-20	2007-07-11			ENSG00000133937		"""Homeoboxes / PRD class"""	4612	protein-coding gene	gene with protein product		138890				7916327	Standard	NM_173849		Approved		uc001ydu.3	P56915		ENST00000238558.3:c.719C>T	14.37:g.95234883G>A	ENSP00000238558:p.Ala240Val						p.A240V	NM_173849	NP_776248	P56915	GSC_HUMAN		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)	3	866	-		all_cancers(154;0.0896)|all_epithelial(191;0.219)	240					Q86YR1	Missense_Mutation	SNP	ENST00000238558.3	37	c.719C>T	CCDS9930.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567663	0.45798	.	.	ENSG00000133937	ENST00000238558	D	0.92595	-3.07	5.4	5.4	0.78164	.	0.297942	0.30235	N	0.010097	D	0.82870	0.5131	N	0.08118	0	0.30732	N	0.747082	B	0.24368	0.102	B	0.20184	0.028	T	0.77940	-0.2399	10	0.29301	T	0.29	-16.9596	14.0584	0.64784	0.0:0.0:0.8491:0.1509	.	240	P56915	GSC_HUMAN	V	240	ENSP00000238558:A240V	ENSP00000238558:A240V	A	-	2	0	GSC	94304636	1.000000	0.71417	0.901000	0.35422	0.569000	0.35902	3.124000	0.50461	2.533000	0.85409	0.462000	0.41574	GCG		0.572	GSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410746.1			13	105	0	0	0	0	13	105				
ATG2B	55102	broad.mit.edu	37	14	96772063	96772063	+	Silent	SNP	G	G	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:96772063G>C	ENST00000359933.4	-	31	5489	c.4596C>G	c.(4594-4596)acC>acG	p.T1532T	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1532					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGCTCGTATCGGTCTTATTAA	0.403																																						uc001yfi.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(4594-4596)ACC>ACG		ATG2 autophagy related 2 homolog B							135.0	123.0	127.0					14																	96772063		2203	4300	6503	SO:0001819	synonymous_variant	55102							g.chr14:96772063G>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4596C>G	14.37:g.96772063G>C							p.T1532T	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	31	4961	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1532					Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	c.4596C>G	CCDS9944.2																																																																																				0.403	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		3	48	0	0	0	0	3	48				
AK7	122481	broad.mit.edu	37	14	96864496	96864496	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:96864496C>A	ENST00000267584.4	+	2	234	c.190C>A	c.(190-192)Ctg>Atg	p.L64M	AK7_ENST00000555570.1_Missense_Mutation_p.L64M	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	64					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GTCAGCTATGCTGGAAGCTTC	0.488																																						uc001yfn.2		NA																	0				ovary(1)	1						c.(190-192)CTG>ATG		adenylate kinase 7							118.0	109.0	112.0					14																	96864496		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96864496C>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.190C>A	14.37:g.96864496C>A	ENSP00000267584:p.Leu64Met					AK7_uc001yfm.1_Missense_Mutation_p.L64M	p.L64M	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	2	234	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	64			Potential.		Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.190C>A	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	C	9.844	1.191738	0.21954	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.55760	0.5	5.25	0.901	0.19284	.	1.516430	0.03956	N	0.289203	T	0.34948	0.0915	N	0.14661	0.345	0.09310	N	1	B;P	0.46327	0.348;0.876	B;B	0.41036	0.17;0.346	T	0.30387	-0.9980	10	0.45353	T	0.12	0.0096	4.1041	0.10028	0.1437:0.5281:0.2393:0.0888	.	64;64	Q96M32;G3V365	KAD7_HUMAN;.	M	64	ENSP00000267584:L64M	ENSP00000267584:L64M	L	+	1	2	AK7	95934249	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.298000	0.19120	0.597000	0.29811	-0.424000	0.05967	CTG		0.488	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			13	72	1	0	1.36e-06	2.91e-05	13	72				
MOK	5891	broad.mit.edu	37	14	102717262	102717262	+	Silent	SNP	C	C	G	rs142858806		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:102717262C>G	ENST00000361847.2	-	7	708	c.477G>C	c.(475-477)acG>acC	p.T159T	MOK_ENST00000522874.1_Silent_p.T158T|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000524214.1_Silent_p.T129T	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										AGATGTATTCCGTGTACGGCT	0.557																																						uc001ylm.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(475-477)ACG>ACC		MAPK/MAK/MRK overlapping kinase							83.0	85.0	84.0					14																	102717262		2203	4300	6503	SO:0001819	synonymous_variant	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102717262C>G	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.477G>C	14.37:g.102717262C>G						RAGE_uc010txv.1_Silent_p.T129T|RAGE_uc001yln.2_5'UTR	p.T159T	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN			7	703	-			159			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Silent	SNP	ENST00000361847.2	37	c.477G>C	CCDS9971.1																																																																																				0.557	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			3	49	0	0	0	0	3	49				
AHNAK2	113146	broad.mit.edu	37	14	105419866	105419866	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:105419866G>T	ENST00000333244.5	-	7	2041	c.1922C>A	c.(1921-1923)tCa>tAa	p.S641*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	641						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTTTGTCATTGAGTCACTGTC	0.423																																						uc010axc.1		NA																	0				ovary(1)	1						c.(1921-1923)TCA>TAA		AHNAK nucleoprotein 2							395.0	395.0	395.0					14																	105419866		2021	4186	6207	SO:0001587	stop_gained	113146					nucleus		g.chr14:105419866G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1922C>A	14.37:g.105419866G>T	ENSP00000353114:p.Ser641*					AHNAK2_uc001ypx.2_Nonsense_Mutation_p.S541*	p.S641*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2042	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	641					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	c.1922C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	18.22	3.574627	0.65878	.	.	ENSG00000185567	ENST00000333244	.	.	.	2.12	-4.25	0.03766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	0.7832	0.01044	0.1478:0.2744:0.2505:0.3272	.	.	.	.	X	641	.	ENSP00000353114:S641X	S	-	2	0	AHNAK2	104490911	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.238000	0.08977	-2.379000	0.00595	-0.428000	0.05917	TCA		0.423	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		12	297	1	0	0.000422831	0.0079914	12	297				
MTA1	9112	broad.mit.edu	37	14	105930441	105930441	+	Silent	SNP	G	G	T	rs200592480	byFrequency	TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr14:105930441G>T	ENST00000331320.7	+	13	1363	c.1149G>T	c.(1147-1149)ccG>ccT	p.P383P	MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000405646.1_Silent_p.P366P|MTA1_ENST00000406191.1_Silent_p.P383P	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	383					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CGGGGGCGCCGGGCCAGAGCC	0.652																																						uc001yqx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1147-1149)CCG>CCT		metastasis associated protein							44.0	53.0	50.0					14																	105930441		2201	4299	6500	SO:0001819	synonymous_variant	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105930441G>T	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1149G>T	14.37:g.105930441G>T						MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Silent_p.P144P	p.P383P	NM_004689	NP_004680	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	13	1336	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	383					A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Silent	SNP	ENST00000331320.7	37	c.1149G>T	CCDS32169.1																																																																																				0.652	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			15	40	1	0	5.01e-05	0.00100308	15	40				
TGM7	116179	broad.mit.edu	37	15	43585695	43585695	+	Silent	SNP	G	G	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr15:43585695G>T	ENST00000452443.2	-	2	149	c.145C>A	c.(145-147)Cga>Aga	p.R49R		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	49					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TGGAAGGGTCGGCTGAAGCTC	0.617																																						uc001zrf.1		NA																	0				ovary(2)	2						c.(145-147)CGA>AGA		transglutaminase 7	L-Glutamine(DB00130)						92.0	96.0	95.0					15																	43585695		2201	4297	6498	SO:0001819	synonymous_variant	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43585695G>T	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.145C>A	15.37:g.43585695G>T							p.R49R	NM_052955	NP_443187	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	2	150	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	49						Silent	SNP	ENST00000452443.2	37	c.145C>A	CCDS32213.1																																																																																				0.617	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		27	56	1	0	1.38e-23	3.22e-22	27	56				
DIS3L	115752	broad.mit.edu	37	15	66587415	66587415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr15:66587415G>T	ENST00000319212.4	+	2	279	c.229G>T	c.(229-231)Gag>Tag	p.E77*	RP11-653J6.1_ENST00000564269.1_RNA|DIS3L_ENST00000441424.2_5'UTR|DIS3L_ENST00000319194.5_5'UTR	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	77					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGAGTTTCCTGAGTTGAAGGG	0.393																																						uc010ujm.1		NA																	0				ovary(2)	2						c.(229-231)GAG>TAG		DIS3 mitotic control homolog (S.							139.0	129.0	132.0					15																	66587415		2201	4299	6500	SO:0001587	stop_gained	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66587415G>T		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.229G>T	15.37:g.66587415G>T	ENSP00000321711:p.Glu77*					DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_5'UTR|DIS3L_uc002apq.2_Nonsense_Mutation_p.E77*|DIS3L_uc010bho.2_5'UTR	p.E77*	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN			2	244	+			77					Q8N1N8|Q8WTU9|Q96CM7	Nonsense_Mutation	SNP	ENST00000319212.4	37	c.229G>T	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175750	0.38413	.	.	ENSG00000166938	ENST00000319212	.	.	.	5.17	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-11.4186	14.0245	0.64577	0.0:0.0:0.848:0.152	.	.	.	.	X	77	.	ENSP00000321711:E77X	E	+	1	0	DIS3L	64374469	1.000000	0.71417	0.016000	0.15963	0.049000	0.14656	8.802000	0.91910	1.129000	0.42072	0.655000	0.94253	GAG		0.393	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		8	119	1	0	0.000442599	0.00827283	8	119				
EFTUD1	79631	broad.mit.edu	37	15	82512439	82512439	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr15:82512439G>T	ENST00000268206.7	-	13	1592	c.1424C>A	c.(1423-1425)cCa>cAa	p.P475Q	EFTUD1_ENST00000359445.3_Missense_Mutation_p.P424Q	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	475					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTCTCCTTTTGGACATGTTTC	0.493																																						uc002bgt.1		NA																	0				ovary(1)	1						c.(1423-1425)CCA>CAA		elongation factor Tu GTP binding domain							123.0	118.0	120.0					15																	82512439		1896	4113	6009	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82512439G>T	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.1424C>A	15.37:g.82512439G>T	ENSP00000268206:p.Pro475Gln					EFTUD1_uc002bgu.1_Missense_Mutation_p.P424Q	p.P475Q	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN			13	1593	-			475					A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.1424C>A	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	G	5.261	0.233597	0.09969	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.63096	-0.02;0.24	4.29	2.4	0.29515	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.177456	0.26738	N	0.022741	T	0.49847	0.1581	L	0.57536	1.79	0.19945	N	0.999945	B;B	0.25772	0.008;0.134	B;B	0.24155	0.016;0.051	T	0.31223	-0.9951	10	0.11182	T	0.66	-8.331	7.2249	0.26010	0.1748:0.1792:0.646:0.0	.	424;475	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	Q	475;424	ENSP00000268206:P475Q;ENSP00000352418:P424Q	ENSP00000268206:P475Q	P	-	2	0	EFTUD1	80299494	0.708000	0.27876	0.008000	0.14137	0.003000	0.03518	1.243000	0.32767	0.560000	0.29169	-0.237000	0.12165	CCA		0.493	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		11	121	1	0	6.32e-08	1.4e-06	11	121				
ANPEP	290	broad.mit.edu	37	15	90347556	90347556	+	Silent	SNP	G	G	A	rs367827322		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr15:90347556G>A	ENST00000300060.6	-	6	1420	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	369	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	ACAGGGGGTCGAACAGCAGGG	0.632																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.3		NA																	0				ovary(3)|skin(1)	4						c.(1105-1107)TTC>TTT		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)	G		0,4400		0,0,2200	59.0	61.0	61.0		1107	-6.3	0.0	15		61	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ANPEP	NM_001150.2		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		369/968	90347556	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90347556G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1107C>T	15.37:g.90347556G>A							p.F369F	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		6	1399	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		369			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.1107C>T	CCDS10356.1																																																																																				0.632	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			7	28	0	0	0	0	7	28				
BLM	641	broad.mit.edu	37	15	91346911	91346912	+	Nonsense_Mutation	DNP	CG	CG	AT			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr15:91346911_91346912CG>AT	ENST00000355112.3	+	18	3637_3638	c.3519_3520CG>AT	c.(3517-3522)ctCGga>ctATga	p.G1174*	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1174					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ATGTGATGCTCGGAAATAAAGC	0.317			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													uc002bpr.2		NA	yes	Rec		Bloom Syndrome	15	15q26.1	641	Mis|N|F	Bloom Syndrome			"""L, E"""		leukemia|lymphoma|skin squamous cell |other cancers			0				ovary(3)|skin(2)|breast(1)	6						c.(3517-3522)CTCGGA>CTATGA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom syndrome protein																																				SO:0001587	stop_gained	641	Bloom_syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91346911_91346912CG>AT	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	Exception_encountered	15.37:g.91346911_91346912delinsAT	ENSP00000347232:p.Gly1174*					BLM_uc010uqh.1_Nonsense_Mutation_p.G1174*|BLM_uc010uqi.1_Nonsense_Mutation_p.G799*|BLM_uc010bnx.2_Intron|BLM_uc002bpt.2_Nonsense_Mutation_p.G149*	p.G1174*	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		18	3616_3617	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		1174					Q52M96	Nonsense_Mutation	DNP	ENST00000355112.3	37	c.3519_3520CG>AT	CCDS10363.1																																																																																				0.317	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			8	213	0	0	0	0	8	213				
RRN3	54700	broad.mit.edu	37	16	15157137	15157137	+	Silent	SNP	T	T	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr16:15157137T>G	ENST00000198767.6	-	17	1793	c.1710A>C	c.(1708-1710)tcA>tcC	p.S570S	RRN3_ENST00000327307.7_Silent_p.S537S|RRN3_ENST00000429751.2_Silent_p.S540S|RRN3_ENST00000540462.1_Silent_p.S388S|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000563559.1_Silent_p.S570S	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	570	Interaction with EIF3L.|Interaction with TWISTNB.				cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						TGAATTTCTTTGACCTGTCAA	0.373																																						uc002dde.2		NA																	0				ovary(1)	1						c.(1708-1710)TCA>TCC		RRN3 RNA polymerase I transcription factor							102.0	99.0	100.0					16																	15157137		2197	4299	6496	SO:0001819	synonymous_variant	54700				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm		g.chr16:15157137T>G	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.1710A>C	16.37:g.15157137T>G						PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Silent_p.S438S|RRN3_uc010uzq.1_Silent_p.S540S	p.S570S	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN			17	1778	-			570			Interaction with EIF3L.|Interaction with TWISTNB.		A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Silent	SNP	ENST00000198767.6	37	c.1710A>C	CCDS10559.1																																																																																				0.373	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427		18	96	0	0	0	0	18	96				
CDR2	1039	broad.mit.edu	37	16	22360714	22360714	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr16:22360714C>T	ENST00000268383.2	-	4	699	c.392G>A	c.(391-393)aGc>aAc	p.S131N		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	131						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		CTCCACTTGGCTCTGGAGGTG	0.527																																						uc002dkn.2		NA																	0				skin(1)	1						c.(391-393)AGC>AAC		cerebellar degeneration-related protein 2							126.0	128.0	127.0					16																	22360714		2197	4300	6497	SO:0001583	missense	1039					nucleus	protein binding	g.chr16:22360714C>T	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.392G>A	16.37:g.22360714C>T	ENSP00000268383:p.Ser131Asn						p.S131N	NM_001802	NP_001793	Q01850	CDR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0188)	4	700	-			131			Potential.		A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	c.392G>A	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694864	0.30052	.	.	ENSG00000140743	ENST00000268383	T	0.29142	1.58	5.59	3.62	0.41486	.	0.569844	0.21334	N	0.076251	T	0.16514	0.0397	N	0.12182	0.205	0.22317	N	0.999204	B	0.06786	0.001	B	0.06405	0.002	T	0.16988	-1.0384	10	0.17369	T	0.5	-4.1682	12.1917	0.54275	0.0:0.8597:0.0:0.1403	.	131	Q01850	CDR2_HUMAN	N	131	ENSP00000268383:S131N	ENSP00000268383:S131N	S	-	2	0	CDR2	22268215	0.738000	0.28186	1.000000	0.80357	0.990000	0.78478	0.179000	0.16840	1.369000	0.46134	0.655000	0.94253	AGC		0.527	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1			27	60	0	0	0	0	27	60				
SALL1	6299	broad.mit.edu	37	16	51173271	51173271	+	Silent	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr16:51173271G>A	ENST00000251020.4	-	2	2895	c.2862C>T	c.(2860-2862)agC>agT	p.S954S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.S857S	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	954					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S954S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGCAAACTCGCTTGGGACCG	0.517																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(3)	8						c.(2860-2862)AGC>AGT		sal-like 1 isoform a							71.0	55.0	61.0					16																	51173271		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173271G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2862C>T	16.37:g.51173271G>A						SALL1_uc010vgr.1_Silent_p.S857S|SALL1_uc010cbv.2_Intron	p.S954S	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2893	-		all_cancers(37;0.0322)	954					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.2862C>T	CCDS10747.1																																																																																				0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		13	22	0	0	0	0	13	22				
CDH11	1009	broad.mit.edu	37	16	65005485	65005485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr16:65005485G>A	ENST00000268603.4	-	11	2254	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	CDH11_ENST00000566827.1_Nonsense_Mutation_p.R421*|CDH11_ENST00000394156.3_Nonsense_Mutation_p.R547*	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	547	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R547G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TACAAACCTCGGTTGTCTCTG	0.398			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		1	Substitution - Missense(1)		large_intestine(1)	lung(10)|ovary(3)|skin(1)	14						c.(1639-1641)CGA>TGA		cadherin 11, type 2 preproprotein							121.0	112.0	115.0					16																	65005485		2203	4300	6503	SO:0001587	stop_gained	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65005485G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1639C>T	16.37:g.65005485G>A	ENSP00000268603:p.Arg547*	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Nonsense_Mutation_p.R547*|CDH11_uc010vin.1_Nonsense_Mutation_p.R421*	p.R547*	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	11	2073	-		Ovarian(137;0.0973)	547			Cadherin 5.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Nonsense_Mutation	SNP	ENST00000268603.4	37	c.1639C>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	42	9.384918	0.99155	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	.	.	.	5.88	3.59	0.41128	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	12.3625	0.55211	0.0:0.0:0.4345:0.5655	.	.	.	.	X	547;547;530	.	ENSP00000268603:R547X	R	-	1	2	CDH11	63562986	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.609000	0.24238	0.466000	0.27193	-0.262000	0.10625	CGA		0.398	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		10	50	0	0	0	0	10	50				
DDX19B	11269	broad.mit.edu	37	16	70333201	70333201	+	Start_Codon_SNP	SNP	A	A	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr16:70333201A>G	ENST00000288071.6	+	1	246	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RP11-529K1.3_ENST00000567706.1_Start_Codon_SNP_p.M1V|DDX19B_ENST00000451014.3_Intron|DDX19B_ENST00000568625.1_Intron|DDX19B_ENST00000355992.3_Start_Codon_SNP_p.M1V|DDX19B_ENST00000563392.1_Intron|DDX19B_ENST00000563206.1_Intron|DDX19B_ENST00000393657.2_5'UTR|DDX19B_ENST00000570055.1_Intron	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	1					mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GCCTGGGACCATGGCCACTGA	0.667																																					Esophageal Squamous(26;382 757 1343 9728 15939)	uc002eys.2		NA																	0					0						c.(1-3)ATG>GTG		DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform							22.0	19.0	20.0					16																	70333201		2195	4292	6487	SO:0001582	initiator_codon_variant	55308				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr16:70333201A>G	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.1A>G	16.37:g.70333201A>G	ENSP00000288071:p.Met1Val					DDX19B_uc010vly.1_Missense_Mutation_p.M1V|DDX19B_uc010vlv.1_Intron|DDX19B_uc010vlw.1_Intron|DDX19B_uc002eyo.2_Missense_Mutation_p.M1V|DDX19B_uc002eyp.2_Missense_Mutation_p.M1V|DDX19B_uc002eyq.2_5'UTR|DDX19B_uc002eyr.2_5'UTR|DDX19B_uc010vlx.1_5'UTR	p.M1V	NM_007242	NP_009173	Q9NUU7	DD19A_HUMAN			1	130	+		Ovarian(137;0.221)	1					B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	ENST00000288071.6	37	c.1A>G	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.084571	0.36758	.	.	ENSG00000157349	ENST00000355992;ENST00000288071	T;T	0.65916	-0.18;-0.18	5.04	5.04	0.67666	.	0.209202	0.51477	D	0.000082	T	0.53546	0.1803	.	.	.	0.80722	D	1	B;B;B	0.23442	0.016;0.005;0.085	B;B;B	0.19666	0.012;0.007;0.026	T	0.56025	-0.8047	9	0.72032	D	0.01	.	11.3632	0.49655	1.0:0.0:0.0:0.0	.	1;1;1	Q7Z4W5;Q9UMR2-2;Q9UMR2	.;.;DD19B_HUMAN	V	1	ENSP00000348271:M1V;ENSP00000288071:M1V	ENSP00000288071:M1V	M	+	1	0	DDX19B	68890702	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	2.788000	0.47806	2.254000	0.74563	0.528000	0.53228	ATG		0.667	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242	Missense_Mutation	3	4	0	0	0	0	3	4				
CNTNAP4	85445	broad.mit.edu	37	16	76501310	76501310	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr16:76501310T>A	ENST00000476707.1	+	9	1693	c.1554T>A	c.(1552-1554)tgT>tgA	p.C518*	SNORD33_ENST00000516213.1_RNA|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.C442*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.C466*|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Nonsense_Mutation_p.C514*			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	515	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTCAGGGATGTATGAGGCTCA	0.433																																						uc002feu.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1543-1545)TGT>TGA		cell recognition protein CASPR4 isoform 1							131.0	121.0	125.0					16																	76501310		2198	4300	6498	SO:0001587	stop_gained	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76501310T>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1554T>A	16.37:g.76501310T>A	ENSP00000417628:p.Cys518*					CNTNAP4_uc002fev.1_Nonsense_Mutation_p.C379*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.C442*|CNTNAP4_uc002fex.1_Nonsense_Mutation_p.C518*|CNTNAP4_uc002few.2_Nonsense_Mutation_p.C490*	p.C515*	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			12	1930	+			515			Extracellular (Potential).|Laminin G-like 2.		E9PFZ6|Q86YZ7	Nonsense_Mutation	SNP	ENST00000476707.1	37	c.1545T>A		.	.	.	.	.	.	.	.	.	.	T	37	5.984358	0.97173	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	.	.	.	5.42	-0.934	0.10428	.	0.000000	0.45361	D	0.000368	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.776	0.46350	0.0:0.4075:0.0:0.5925	.	.	.	.	X	514;466;442;518	.	ENSP00000306893:C514X	C	+	3	2	CNTNAP4	75058811	0.398000	0.25279	0.851000	0.33527	0.979000	0.70002	-0.341000	0.07811	-0.356000	0.08187	0.528000	0.53228	TGT		0.433	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		11	25	0	0	0	0	11	25				
ASGR2	433	broad.mit.edu	37	17	7017444	7017444	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:7017444A>G	ENST00000380952.2	-	2	380	c.116T>C	c.(115-117)tTt>tCt	p.F39S	ASGR2_ENST00000446679.2_Intron|ASGR2_ENST00000355035.5_Missense_Mutation_p.F39S|ASGR2_ENST00000254850.7_Intron	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	39					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GCCTTTCAAAAATGGATTTCC	0.537																																						uc002gep.3		NA																	0				ovary(1)	1						c.(115-117)TTT>TCT		asialoglycoprotein receptor 2 isoform a	Antihemophilic Factor(DB00025)						161.0	130.0	141.0					17																	7017444		2203	4300	6503	SO:0001583	missense	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7017444A>G	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.116T>C	17.37:g.7017444A>G	ENSP00000370339:p.Phe39Ser					ASGR2_uc002gem.1_5'UTR|ASGR2_uc002gen.1_Intron|ASGR2_uc002geo.1_Missense_Mutation_p.F39S|ASGR2_uc002ger.3_Missense_Mutation_p.F39S|ASGR2_uc002geq.3_Intron|ASGR2_uc010clw.2_Intron|ASGR2_uc010vtl.1_Intron	p.F39S	NM_001181	NP_001172	P07307	ASGR2_HUMAN			2	381	-			39			Cytoplasmic (Potential).		A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	c.116T>C	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	A	4.759	0.141152	0.09083	.	.	ENSG00000161944	ENST00000355035;ENST00000380952	T;T	0.17054	2.3;2.3	3.59	-1.24	0.09435	Hepatic lectin, N-terminal (1);	1.475580	0.04631	N	0.403710	T	0.09468	0.0233	N	0.24115	0.695	0.09310	N	1	B;B	0.18166	0.026;0.026	B;B	0.18871	0.015;0.023	T	0.29792	-1.0000	10	0.21540	T	0.41	.	0.5583	0.00674	0.4459:0.1751:0.2091:0.1698	.	39;39	P07307;Q7Z4G9	ASGR2_HUMAN;.	S	39	ENSP00000347140:F39S;ENSP00000370339:F39S	ENSP00000347140:F39S	F	-	2	0	ASGR2	6958168	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.176000	0.16782	-0.340000	0.08388	-1.437000	0.01076	TTT		0.537	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		10	46	0	0	0	0	10	46				
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:7579312C>A	ENST00000269305.4	-	4	564	c.375G>T	c.(373-375)acG>acT	p.T125T	TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T	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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGCAACTGACCGTGCAAGTCA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	p.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(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	CS004351|CS011573|CS971913	TP53	S	rs55863639	c.(373-375)ACG>ACT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							66.0	61.0	63.0					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579312C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>T	17.37:g.7579312C>A		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_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T	p.T125T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	569	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||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	Silent	SNP	ENST00000269305.4	37	c.375G>T	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	15	25	1	0	2.94e-08	6.55e-07	15	25				
RHBDL3	162494	broad.mit.edu	37	17	30621436	30621436	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:30621436C>A	ENST00000269051.4	+	5	657	c.643C>A	c.(643-645)Ctg>Atg	p.L215M	RHBDL3_ENST00000538145.1_Missense_Mutation_p.L207M|RHBDL3_ENST00000536287.1_Missense_Mutation_p.L117M	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	215						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TTGGCGCTACCTGACATACAT	0.463																																						uc002hhe.1		NA																	0				ovary(1)	1						c.(643-645)CTG>ATG		rhomboid protease 3							125.0	102.0	110.0					17																	30621436		2203	4300	6503	SO:0001583	missense	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30621436C>A	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.643C>A	17.37:g.30621436C>A	ENSP00000269051:p.Leu215Met					RHBDL3_uc010csw.1_Missense_Mutation_p.L207M|RHBDL3_uc010csx.1_Missense_Mutation_p.L215M|RHBDL3_uc010csy.1_Missense_Mutation_p.L117M|RHBDL3_uc002hhf.1_Missense_Mutation_p.L117M	p.L215M	NM_138328	NP_612201	P58872	RHBL3_HUMAN			5	657	+		Breast(31;0.116)|Ovarian(249;0.182)	215					A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	c.643C>A	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984846	0.74474	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145;ENST00000536287	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	6.17	4.16	0.48862	Peptidase S54, rhomboid domain (1);	0.134668	0.51477	D	0.000082	T	0.37156	0.0993	M	0.63843	1.955	0.53005	D	0.999965	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.79784	0.913;0.993;0.993	T	0.08554	-1.0716	10	0.62326	D	0.03	-22.9666	12.1092	0.53830	0.0:0.8099:0.1249:0.0652	.	215;207;215	E9PD28;Q495Y5;P58872	.;.;RHBL3_HUMAN	M	215;215;207;117	ENSP00000394849:L215M;ENSP00000269051:L215M;ENSP00000442092:L207M;ENSP00000466508:L117M	ENSP00000269051:L215M	L	+	1	2	RHBDL3	27645549	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.926000	0.48892	0.907000	0.36646	0.655000	0.94253	CTG		0.463	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		9	36	1	0	1.13e-05	0.000231687	9	36				
HEATR9	256957	broad.mit.edu	37	17	34185928	34185928	+	Silent	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:34185928C>T	ENST00000311880.2	-	9	1051	c.903G>A	c.(901-903)caG>caA	p.Q301Q	C17orf66_ENST00000592980.1_Silent_p.Q261Q	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		301					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GGCACAGGCACTGCAACAAGA	0.567																																						uc002hke.1		NA																	0				breast(2)|skin(1)	3						c.(901-903)CAG>CAA		hypothetical protein LOC256957							113.0	96.0	102.0					17																	34185928		2203	4300	6503	SO:0001819	synonymous_variant	256957						binding	g.chr17:34185928C>T																												ENST00000311880.2:c.903G>A	17.37:g.34185928C>T						C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Silent_p.Q261Q|C17orf66_uc010wcm.1_Silent_p.Q267Q	p.Q301Q	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	9	1052	-		Ovarian(249;0.17)	301					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	c.903G>A	CCDS11299.1																																																																																				0.567	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			9	55	0	0	0	0	9	55				
HSPB9	94086	broad.mit.edu	37	17	40275302	40275302	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:40275302C>T	ENST00000355067.3	+	1	547	c.434C>T	c.(433-435)cCg>cTg	p.P145L	KAT2A_ENST00000225916.5_5'Flank|CTD-2132N18.3_ENST00000592574.1_Intron	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	145					response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GGACCGTCCCCGAGACTCGGG	0.637																																						uc002hyy.2		NA																	0					0						c.(433-435)CCG>CTG		heat shock protein, alpha-crystallin-related,							59.0	59.0	59.0					17																	40275302		2202	4300	6502	SO:0001583	missense	94086				response to stress	cytoplasm|nucleus	protein binding	g.chr17:40275302C>T	AJ302068	CCDS11418.1	17q21	2011-09-02			ENSG00000197723	ENSG00000260325		"""Heat shock proteins / HSPB"""	30589	protein-coding gene	gene with protein product	"""cancer/testis antigen 51"""	608344				11470154, 12820654	Standard	NM_033194		Approved	CT51	uc002hyy.2	Q9BQS6	OTTHUMG00000133500	ENST00000355067.3:c.434C>T	17.37:g.40275302C>T	ENSP00000347178:p.Pro145Leu					KAT2A_uc002hyx.2_5'Flank	p.P145L	NM_033194	NP_149971	Q9BQS6	HSPB9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	1	547	+		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)	145					B3KSG6|Q52LB4	Missense_Mutation	SNP	ENST00000355067.3	37	c.434C>T	CCDS11418.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363696	0.24684	.	.	ENSG00000197723	ENST00000355067	D	0.88509	-2.39	3.4	-3.2	0.05156	.	3.371990	0.01867	N	0.036951	T	0.77123	0.4084	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61584	-0.7033	10	0.48119	T	0.1	0.9004	1.7227	0.02915	0.1132:0.2796:0.2268:0.3803	.	145	Q9BQS6	HSPB9_HUMAN	L	145	ENSP00000347178:P145L	ENSP00000347178:P145L	P	+	2	0	HSPB9	37528828	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.512000	0.06313	-1.025000	0.03334	-2.792000	0.00115	CCG		0.637	HSPB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257438.1	NM_033194		9	26	0	0	0	0	9	26				
TUBG1	7283	broad.mit.edu	37	17	40766632	40766632	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:40766632G>A	ENST00000251413.3	+	10	1177	c.1115G>A	c.(1114-1116)cGg>cAg	p.R372Q		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	372					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	TCGGCCCACCGGGTCAGCGGG	0.592																																					Colon(20;114 698 11420 22864)	uc002ian.2		NA																	0				ovary(1)	1						c.(1114-1116)CGG>CAG		tubulin, gamma 1							81.0	87.0	85.0					17																	40766632		2203	4297	6500	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40766632G>A	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1115G>A	17.37:g.40766632G>A	ENSP00000251413:p.Arg372Gln						p.R372Q	NM_001070	NP_001061	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	10	1513	+		Breast(137;0.00116)	372					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.1115G>A	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802345	0.90538	.	.	ENSG00000131462	ENST00000251413	D	0.83992	-1.79	4.38	4.38	0.52667	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000003	D	0.88028	0.6327	M	0.91354	3.2	0.80722	D	1	D	0.56035	0.974	P	0.44696	0.458	D	0.91833	0.5477	10	0.87932	D	0	-17.2499	17.1446	0.86763	0.0:0.0:1.0:0.0	.	372	P23258	TBG1_HUMAN	Q	372	ENSP00000251413:R372Q	ENSP00000251413:R372Q	R	+	2	0	TUBG1	38020158	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.600000	0.82769	2.267000	0.75376	0.563000	0.77884	CGG		0.592	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		15	45	0	0	0	0	15	45				
CCDC47	57003	broad.mit.edu	37	17	61843274	61843274	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:61843274G>T	ENST00000225726.5	-	2	644	c.262C>A	c.(262-264)Cag>Aag	p.Q88K	CCDC47_ENST00000582252.1_Missense_Mutation_p.Q88K|CCDC47_ENST00000403162.3_Missense_Mutation_p.Q88K	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	88					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AGCCTCACCTGGGTATCTGCA	0.393																																						uc002jbs.3		NA																	0					0						c.(262-264)CAG>AAG		coiled-coil domain containing 47 precursor							139.0	152.0	148.0					17																	61843274		2203	4300	6503	SO:0001583	missense	57003					integral to membrane	protein binding	g.chr17:61843274G>T	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.262C>A	17.37:g.61843274G>T	ENSP00000225726:p.Gln88Lys					CCDC47_uc010ddx.2_Missense_Mutation_p.Q88K|CCDC47_uc002jbt.2_Missense_Mutation_p.Q88K	p.Q88K	NM_020198	NP_064583	Q96A33	CCD47_HUMAN			2	598	-			88					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	c.262C>A	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545954	0.45280	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.12	5.12	0.69794	.	0.106937	0.64402	D	0.000003	T	0.51160	0.1658	L	0.36672	1.1	0.58432	D	0.999999	B;B	0.25667	0.004;0.131	B;B	0.22386	0.022;0.039	T	0.46091	-0.9216	9	0.09590	T	0.72	-8.9035	18.0834	0.89449	0.0:0.0:1.0:0.0	.	88;88	Q96A33-2;Q96A33	.;CCD47_HUMAN	K	88	.	ENSP00000225726:Q88K	Q	-	1	0	CCDC47	59197006	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.958000	0.70330	2.820000	0.97059	0.650000	0.86243	CAG		0.393	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		12	215	1	0	0.00010058	0.00197235	12	215				
RNF213	57674	broad.mit.edu	37	17	78319551	78319551	+	Silent	SNP	C	C	T	rs143772929		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:78319551C>T	ENST00000582970.1	+	29	7559	c.7416C>T	c.(7414-7416)ttC>ttT	p.F2472F	RNF213_ENST00000336301.6_Silent_p.F545F|RNF213_ENST00000508628.2_Silent_p.F2521F	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2472					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATGTGGCCTTCGCCAATAAGG	0.463																																						uc002jyh.1		NA																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(1633-1635)TTC>TTT		ring finger protein 213		C		2,4404	4.2+/-10.8	0,2,2201	113.0	100.0	105.0		7563	-3.4	0.0	17	dbSNP_134	105	0,8600		0,0,4300	no	coding-synonymous	RNF213	NM_020914.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		2521/5257	78319551	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78319551C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7416C>T	17.37:g.78319551C>T							p.F545F	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	1858	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.1635C>T	CCDS58606.1																																																																																				0.463	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		12	50	0	0	0	0	12	50				
PTPRM	5797	broad.mit.edu	37	18	8143677	8143677	+	Missense_Mutation	SNP	G	G	A	rs373023204		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr18:8143677G>A	ENST00000332175.8	+	14	3237	c.2200G>A	c.(2200-2202)Gag>Aag	p.E734K	PTPRM_ENST00000400053.4_Missense_Mutation_p.E672K|PTPRM_ENST00000444013.1_Missense_Mutation_p.E521K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E734K|PTPRM_ENST00000580170.1_Missense_Mutation_p.E734K	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	734					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CCCAGAACCCGAGAAACAGAC	0.423																																						uc002knn.3		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(2200-2202)GAG>AAG		protein tyrosine phosphatase, receptor type, M		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	127.0	126.0	126.0		2200,2200	5.9	1.0	18		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRM	NM_001105244.1,NM_002845.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	734/1466,734/1453	8143677	1,13005	2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8143677G>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2200G>A	18.37:g.8143677G>A	ENSP00000331418:p.Glu734Lys					PTPRM_uc010dkv.2_Missense_Mutation_p.E734K|PTPRM_uc010wzl.1_Missense_Mutation_p.E521K	p.E734K	NM_002845	NP_002836	P28827	PTPRM_HUMAN			14	2703	+		Colorectal(10;0.234)	734			Extracellular (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.2200G>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166956	0.94768	0.0	1.16E-4	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.49139	1.13;1.11;0.95;0.79	5.92	5.92	0.95590	.	0.169815	0.50627	D	0.000101	T	0.66934	0.2840	M	0.61703	1.905	0.80722	D	1	D;D;D	0.76494	0.958;0.999;0.999	B;D;D	0.71184	0.311;0.972;0.972	T	0.59241	-0.7491	10	0.29301	T	0.29	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	521;734;734	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	K	734;734;672;521	ENSP00000331418:E734K;ENSP00000382933:E734K;ENSP00000382927:E672K;ENSP00000387608:E521K	ENSP00000331418:E734K	E	+	1	0	PTPRM	8133677	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	7.616000	0.83018	2.809000	0.96659	0.655000	0.94253	GAG		0.423	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			12	60	0	0	0	0	12	60				
MYO5B	4645	broad.mit.edu	37	18	47421488	47421488	+	Silent	SNP	G	G	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr18:47421488G>C	ENST00000285039.7	-	22	3167	c.2868C>G	c.(2866-2868)acC>acG	p.T956T	MYO5B_ENST00000324581.6_Silent_p.T97T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	956					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTACCTCCATGGTGTATGTTG	0.552																																						uc002leb.2		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2866-2868)ACC>ACG		myosin VB							76.0	74.0	74.0					18																	47421488		1994	4186	6180	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47421488G>C	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2868C>G	18.37:g.47421488G>C						MYO5B_uc002lea.2_Silent_p.T97T	p.T956T	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	22	3156	-			956			Potential.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.2868C>G	CCDS42436.1																																																																																				0.552	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			3	37	0	0	0	0	3	37				
SHC2	25759	broad.mit.edu	37	19	436383	436383	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:436383T>C	ENST00000264554.6	-	6	822	c.823A>G	c.(823-825)Aga>Gga	p.R275G		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	275	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCACCTCTCTGGTTGATG	0.716																																						uc002loq.3		NA																	0					0						c.(823-825)AGA>GGA		SHC (Src homology 2 domain containing)							21.0	26.0	25.0					19																	436383		1887	4094	5981	SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:436383T>C	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.823A>G	19.37:g.436383T>C	ENSP00000264554:p.Arg275Gly					SHC2_uc002lop.3_Missense_Mutation_p.R16G	p.R275G	NM_012435	NP_036567	P98077	SHC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	823	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	275			PID.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	c.823A>G	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535844	0.64972	.	.	ENSG00000129946	ENST00000264554	T	0.14893	2.47	4.37	3.31	0.37934	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.91300	3.195	0.53005	D	0.999964	D	0.76494	0.999	D	0.83275	0.996	T	0.50955	-0.8766	10	0.87932	D	0	.	9.6161	0.39692	0.0:0.0:0.3403:0.6597	.	275	P98077	SHC2_HUMAN	G	275	ENSP00000264554:R275G	ENSP00000264554:R275G	R	-	1	2	SHC2	387383	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.314000	0.43743	0.623000	0.30267	0.352000	0.21897	AGA		0.716	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			9	16	0	0	0	0	9	16				
MUC16	94025	broad.mit.edu	37	19	9069845	9069845	+	Silent	SNP	A	A	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:9069845A>G	ENST00000397910.4	-	3	17804	c.17601T>C	c.(17599-17601)ccT>ccC	p.P5867P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5869	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTCCCTATAGGACCTGTTT	0.493																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(17599-17601)CCT>CCC		mucin 16							197.0	182.0	187.0					19																	9069845		1941	4147	6088	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069845A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17601T>C	19.37:g.9069845A>G							p.P5867P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	17805	-			5869			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.17601T>C	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	79	0	0	0	0	3	79				
KEAP1	9817	broad.mit.edu	37	19	10610177	10610177	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:10610177T>A	ENST00000171111.5	-	2	1080	c.533A>T	c.(532-534)cAg>cTg	p.Q178L	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.Q178L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	178					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GGGGTCCAGCTGCTGCACCAG	0.567																																						uc002moq.1		NA																	0				lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(532-534)CAG>CTG		kelch-like ECH-associated protein 1							135.0	108.0	117.0					19																	10610177		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610177T>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.533A>T	19.37:g.10610177T>A	ENSP00000171111:p.Gln178Leu					KEAP1_uc002mor.1_Missense_Mutation_p.Q178L	p.Q178L	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	689	-			178					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.533A>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.438787	0.83885	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.68331	-0.32;-0.32	4.81	4.81	0.61882	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.116198	0.64402	D	0.000012	T	0.79488	0.4454	M	0.80847	2.515	0.80722	D	1	D	0.69078	0.997	P	0.62491	0.903	T	0.81890	-0.0725	10	0.56958	D	0.05	.	12.3271	0.55018	0.0:0.0:0.0:1.0	.	178	Q14145	KEAP1_HUMAN	L	178	ENSP00000171111:Q178L;ENSP00000377245:Q178L	ENSP00000171111:Q178L	Q	-	2	0	KEAP1	10471177	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.066000	0.71185	1.811000	0.52892	0.459000	0.35465	CAG		0.567	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		6	9	0	0	0	0	6	9				
PLVAP	83483	broad.mit.edu	37	19	17476149	17476149	+	Silent	SNP	G	G	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:17476149G>T	ENST00000252590.4	-	3	1186	c.1125C>A	c.(1123-1125)ctC>ctA	p.L375L	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	375					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTCCATCCTGAGCTGCTCCG	0.617																																						uc002ngk.1		NA																	0					0						c.(1123-1125)CTC>CTA		plasmalemma vesicle associated protein							97.0	85.0	89.0					19																	17476149		2203	4300	6503	SO:0001819	synonymous_variant	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476149G>T	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.1125C>A	19.37:g.17476149G>T							p.L375L	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			3	1175	-			375			Potential.|Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	ENST00000252590.4	37	c.1125C>A	CCDS32952.1																																																																																				0.617	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		15	40	1	0	8.01e-06	0.000167655	15	40				
SUGP1	57794	broad.mit.edu	37	19	19416690	19416690	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:19416690T>C	ENST00000247001.5	-	4	853	c.506A>G	c.(505-507)gAg>gGg	p.E169G	SUGP1_ENST00000334782.5_Missense_Mutation_p.E169G|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	169					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						ATAGTCCTCCTCCTCGTCCTC	0.647																																						uc002nmh.2		NA																	0					0						c.(505-507)GAG>GGG		splicing factor 4							59.0	57.0	57.0					19																	19416690		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19416690T>C	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.506A>G	19.37:g.19416690T>C	ENSP00000247001:p.Glu169Gly					SF4_uc002nmg.2_5'Flank|SF4_uc002nmi.2_5'UTR|SF4_uc002nmj.2_5'UTR|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_RNA	p.E169G	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN			4	508	-			169					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.506A>G	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.327635	0.81690	.	.	ENSG00000105705	ENST00000247001;ENST00000535070;ENST00000334782	T	0.43294	0.95	4.44	4.44	0.53790	.	0.055638	0.64402	D	0.000001	T	0.50837	0.1639	L	0.58101	1.795	0.46981	D	0.999275	D	0.60575	0.988	P	0.54815	0.761	T	0.49283	-0.8956	10	0.36615	T	0.2	.	12.5289	0.56102	0.0:0.0:0.0:1.0	.	169	Q8IWZ8	SUGP1_HUMAN	G	169	ENSP00000247001:E169G	ENSP00000247001:E169G	E	-	2	0	SUGP1	19277690	1.000000	0.71417	0.919000	0.36401	0.924000	0.55760	5.079000	0.64431	1.650000	0.50662	0.460000	0.39030	GAG		0.647	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		6	31	0	0	0	0	6	31				
PSG8	440533	broad.mit.edu	37	19	43262160	43262160	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:43262160G>A	ENST00000306511.4	-	3	800	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F	PSG8_ENST00000406636.3_Missense_Mutation_p.L113F|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.L235F|PSG8_ENST00000600709.1_5'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	235						extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TCACGGAGGAGATTCAGGGTG	0.527																																						uc002ouo.2		NA																	0					0						c.(703-705)CTC>TTC		pregnancy specific beta-1-glycoprotein 8 isoform							191.0	201.0	198.0					19																	43262160		2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43262160G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.703C>T	19.37:g.43262160G>A	ENSP00000305005:p.Leu235Phe					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.L74F|PSG8_uc002ouh.2_Missense_Mutation_p.L235F|PSG8_uc010ein.2_Missense_Mutation_p.L113F|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Missense_Mutation_p.L74F|PSG8_uc002oul.3_Missense_Mutation_p.L235F|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	p.L235F	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			3	801	-		Prostate(69;0.00899)	235					A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.703C>T	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	g	10.92	1.487525	0.26686	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000426252;ENST00000306511	T;T;T	0.24538	2.02;1.85;2.04	1.53	0.226	0.15353	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37461	0.1004	L	0.46157	1.445	0.09310	N	1	D;D;D;D	0.71674	0.981;0.998;0.985;0.988	D;D;D;D	0.79108	0.914;0.992;0.94;0.965	T	0.15636	-1.0430	9	0.87932	D	0	.	5.7075	0.17917	0.0:0.6458:0.3542:0.0	.	113;235;235;235	Q9UQ74-2;Q9UQ74;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.	F	235;110;113;47;235	ENSP00000385869:L235F;ENSP00000385081:L113F;ENSP00000305005:L235F	ENSP00000292109:L110F	L	-	1	0	PSG8	47954000	0.000000	0.05858	0.016000	0.15963	0.019000	0.09904	-0.737000	0.04877	-0.014000	0.14175	-0.876000	0.02978	CTC		0.527	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			24	117	0	0	0	0	24	117				
ZNF229	7772	broad.mit.edu	37	19	44934288	44934288	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:44934288C>G	ENST00000588931.1	-	6	1101	c.668G>C	c.(667-669)tGc>tCc	p.C223S	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Missense_Mutation_p.C217S|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGATATCCAGCAAAAGCTGTC	0.378																																						uc002oze.1		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(667-669)TGC>TCC		zinc finger protein 229							118.0	112.0	114.0					19																	44934288		1879	4100	5979	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44934288C>G	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.668G>C	19.37:g.44934288C>G	ENSP00000466519:p.Cys223Ser					ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.C217S	p.C223S	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	1102	-		Prostate(69;0.0352)	223					B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.668G>C	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.759998	0.00657	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.32	-2.51	0.06365	.	.	.	.	.	T	0.11110	0.0271	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34030	-0.9845	8	0.05833	T	0.94	.	4.9322	0.13923	0.0:0.443:0.1728:0.3842	.	223	Q9UJW7	ZN229_HUMAN	S	223	.	ENSP00000291187:C223S	C	-	2	0	ZNF229	49626128	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-0.043000	0.12043	-0.200000	0.10300	-0.466000	0.05196	TGC		0.378	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		5	94	0	0	0	0	5	94				
ZNF577	84765	broad.mit.edu	37	19	52383578	52383578	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:52383578C>G	ENST00000301399.5	-	4	423	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	ZNF577_ENST00000412216.1_Missense_Mutation_p.E20Q|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.E20Q|ZNF577_ENST00000451628.2_Missense_Mutation_p.E20Q	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		aaatttacctcccctgaagaa	0.423																																						uc010yde.1		NA																	0				ovary(1)	1						c.(58-60)GAG>CAG		zinc finger protein 577 isoform a							266.0	243.0	251.0					19																	52383578		2203	4300	6503	SO:0001583	missense	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52383578C>G	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.58G>C	19.37:g.52383578C>G	ENSP00000301399:p.Glu20Gln					ZNF577_uc010ydd.1_RNA|ZNF577_uc002pxx.3_Missense_Mutation_p.E20Q|ZNF577_uc002pxv.2_Missense_Mutation_p.E13Q|ZNF577_uc002pxw.2_Missense_Mutation_p.E13Q	p.E20Q	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	4	449	-		all_neural(266;0.0602)	20					A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	c.58G>C	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	0.329	-0.957511	0.02267	.	.	ENSG00000161551	ENST00000412216;ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390;ENST00000453272;ENST00000446514;ENST00000419138	T;T;T;T;T;T;T;T	0.00675	5.88;5.88;5.88;5.88;5.88;5.88;5.88;5.88	1.95	-0.505	0.11993	Krueppel-associated box (1);	.	.	.	.	T	0.00271	0.0008	N	0.01076	-1.035	0.09310	N	1	B;P	0.34934	0.345;0.476	B;B	0.32342	0.098;0.144	T	0.35425	-0.9789	9	0.02654	T	1	.	4.3506	0.11153	0.0:0.5796:0.0:0.4204	.	20;20	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	Q	20	ENSP00000394828:E20Q;ENSP00000301399:E20Q;ENSP00000413476:E20Q;ENSP00000389652:E20Q;ENSP00000404509:E20Q;ENSP00000413560:E20Q;ENSP00000415307:E20Q;ENSP00000407476:E20Q	ENSP00000301399:E20Q	E	-	1	0	ZNF577	57075390	0.000000	0.05858	0.002000	0.10522	0.171000	0.22731	-0.523000	0.06230	-0.068000	0.12953	0.467000	0.42956	GAG		0.423	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		22	110	0	0	0	0	22	110				
ZNF649	65251	broad.mit.edu	37	19	52394790	52394790	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:52394790T>C	ENST00000354957.3	-	5	883	c.599A>G	c.(598-600)cAt>cGt	p.H200R	ZNF649_ENST00000600738.1_Missense_Mutation_p.H200R|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTTCCTGTATGAATTCTCTT	0.463																																						uc002pxy.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(598-600)CAT>CGT		zinc finger protein 649							140.0	134.0	136.0					19																	52394790		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394790T>C	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.599A>G	19.37:g.52394790T>C	ENSP00000347043:p.His200Arg					ZNF577_uc010ydf.1_5'Flank	p.H200R	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	867	-		all_neural(266;0.0602)	200			C2H2-type 1.		A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.599A>G	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.664690	0.29604	.	.	ENSG00000198093	ENST00000354957	T	0.67523	-0.27	2.79	1.73	0.24493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78246	0.4253	H	0.95679	3.705	0.25267	N	0.989543	D	0.53619	0.961	P	0.49047	0.599	T	0.70004	-0.4991	9	0.87932	D	0	.	7.0406	0.25019	0.2033:0.0:0.0:0.7967	.	200	Q9BS31	ZN649_HUMAN	R	200	ENSP00000347043:H200R	ENSP00000347043:H200R	H	-	2	0	ZNF649	57086602	0.995000	0.38212	0.021000	0.16686	0.150000	0.21749	2.434000	0.44802	0.189000	0.20188	0.332000	0.21555	CAT		0.463	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		11	45	0	0	0	0	11	45				
CACNG8	59283	broad.mit.edu	37	19	54466610	54466610	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:54466610G>A	ENST00000270458.2	+	1	317	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	72					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGGGGGCGGCGGCGCCTCGGA	0.726																																						uc002qcs.1		NA																	0					0						c.(211-213)GGC>AGC		voltage-dependent calcium channel gamma-8							11.0	13.0	12.0					19																	54466610		2177	4264	6441	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54466610G>A	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.214G>A	19.37:g.54466610G>A	ENSP00000270458:p.Gly72Ser						p.G71S	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	1	317	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		72					Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.211G>A	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	G	9.905	1.207920	0.22205	.	.	ENSG00000142408	ENST00000270458	T	0.41400	1.0	2.92	0.68	0.17980	.	0.533778	0.16207	U	0.224671	T	0.20700	0.0498	N	0.14661	0.345	0.22424	N	0.999111	B	0.06786	0.001	B	0.10450	0.005	T	0.16100	-1.0414	9	0.25106	T	0.35	0.3108	5.3196	0.15874	0.4086:0.0:0.5914:0.0	.	72	Q8WXS5	CCG8_HUMAN	S	72	ENSP00000270458:G72S	ENSP00000270458:G72S	G	+	1	0	CACNG8	59158422	0.046000	0.20272	0.011000	0.14972	0.288000	0.27193	2.115000	0.41921	0.123000	0.18342	0.297000	0.19635	GGC		0.726	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			3	7	0	0	0	0	3	7				
LILRA6	79168	broad.mit.edu	37	19	54746049	54746049	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:54746049C>A	ENST00000396365.2	-	3	247	c.208G>T	c.(208-210)Gac>Tac	p.D70Y	LILRA6_ENST00000440558.2_Missense_Mutation_p.D70Y|LILRB3_ENST00000407860.2_Missense_Mutation_p.D70Y|LILRA6_ENST00000245621.5_Missense_Mutation_p.D70Y|LILRA6_ENST00000270464.5_Missense_Mutation_p.D70Y|LILRA6_ENST00000391735.3_Missense_Mutation_p.D70Y|LILRA6_ENST00000419410.2_Missense_Mutation_p.D70Y	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	70					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTATTTCTGTCCAAGGGCTCT	0.567																																						uc010erh.1		NA																	0				skin(2)|ovary(1)	3						c.(208-210)GAC>TAC		leukocyte immunoglobulin-like receptor,							295.0	283.0	287.0					19																	54746049		2203	4300	6503	SO:0001583	missense	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54746049C>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.208G>T	19.37:g.54746049C>A	ENSP00000379651:p.Asp70Tyr					LILRA6_uc002qew.1_Missense_Mutation_p.D70Y|LILRB3_uc002qeh.1_Missense_Mutation_p.D70Y|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.D70Y|LILRA6_uc002qek.1_Missense_Mutation_p.D70Y|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.D70Y|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.D70Y|LILRB3_uc002qep.1_Missense_Mutation_p.D70Y|LILRB3_uc002qeq.1_Missense_Mutation_p.D70Y|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.D70Y|LILRA6_uc010yep.1_Missense_Mutation_p.D70Y|LILRA6_uc010yeq.1_Missense_Mutation_p.D70Y|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Missense_Mutation_p.D70Y|LILRA6_uc002qev.1_5'Flank	p.D70Y	NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	332	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		70			Extracellular (Potential).|Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000396365.2	37	c.208G>T	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	5.882	0.346882	0.11126	.	.	ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94;2.94;2.94	2.87	-5.74	0.02391	Immunoglobulin-like fold (1);	3.367760	0.00990	N	0.003504	T	0.18551	0.0445	M	0.82517	2.595	0.09310	N	1	P;B;D;B;D;D;B;P;P;P	0.63880	0.611;0.18;0.969;0.288;0.966;0.993;0.335;0.782;0.943;0.891	B;B;P;B;P;P;B;B;P;B	0.56514	0.187;0.063;0.8;0.13;0.72;0.791;0.142;0.298;0.499;0.413	T	0.57159	-0.7859	10	0.02654	T	1	.	0.6162	0.00770	0.2798:0.1889:0.1282:0.4031	.	70;70;70;70;70;70;70;70;70;70	C9JFH3;Q6PI73-2;B5MCX0;B5ME96;Q6PI73;F8WCY4;F8WD89;D3YTC4;F8W6G6;O75022-2	.;.;.;.;LIRA6_HUMAN;.;.;.;.;.	Y	70	ENSP00000384274:D70Y;ENSP00000390120:D70Y;ENSP00000270464:D70Y;ENSP00000411227:D70Y;ENSP00000375615:D70Y;ENSP00000379651:D70Y;ENSP00000245621:D70Y	ENSP00000245621:D70Y	D	-	1	0	LILRB3;LILRA6	59437861	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.793000	0.00365	-1.981000	0.00989	-1.206000	0.01644	GAC		0.567	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		18	147	1	0	2.98e-07	6.47e-06	18	147				
PTPRH	5794	broad.mit.edu	37	19	55718094	55718094	+	Silent	SNP	T	T	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:55718094T>A	ENST00000376350.3	-	3	337	c.315A>T	c.(313-315)ggA>ggT	p.G105G	PTPRH_ENST00000263434.5_Silent_p.G105G|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	105	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGCTATTTACTCCGTCTTTCT	0.498																																						uc002qjq.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(313-315)GGA>GGT		protein tyrosine phosphatase, receptor type, H							178.0	171.0	173.0					19																	55718094		2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55718094T>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.315A>T	19.37:g.55718094T>A						PTPRH_uc010esv.2_Silent_p.G105G|PTPRH_uc002qjs.2_Silent_p.G112G	p.G105G	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	3	388	-		Renal(1328;0.245)	105			Extracellular (Potential).|Fibronectin type-III 1.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.315A>T	CCDS33110.1																																																																																				0.498	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			14	80	0	0	0	0	14	80				
PEG3	5178	broad.mit.edu	37	19	57328305	57328305	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:57328305C>T	ENST00000326441.9	-	10	1868	c.1505G>A	c.(1504-1506)gGg>gAg	p.G502E	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G378E|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G376E|PEG3_ENST00000423103.2_Missense_Mutation_p.G502E|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	502					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAACGTTTCCCTCCAACCTG	0.453																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1504-1506)GGG>GAG		paternally expressed 3 isoform 1							203.0	193.0	197.0					19																	57328305		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328305C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1505G>A	19.37:g.57328305C>T	ENSP00000326581:p.Gly502Glu					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G473E|PEG3_uc002qnv.2_Missense_Mutation_p.G502E|PEG3_uc002qnw.2_Missense_Mutation_p.G378E|PEG3_uc002qnx.2_Missense_Mutation_p.G376E|PEG3_uc010etr.2_Missense_Mutation_p.G502E	p.G502E	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1856	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	502					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1505G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	7.067	0.567520	0.13560	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.22134	1.97;1.97	3.99	2.92	0.33932	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.155745	0.30538	N	0.009417	T	0.10208	0.0250	N	0.00630	-1.315	.	.	.	B;D;D	0.89917	0.227;1.0;1.0	B;D;D	0.79108	0.222;0.98;0.992	T	0.34551	-0.9824	9	0.02654	T	1	-27.1918	5.4833	0.16735	0.0:0.6849:0.2069:0.1082	.	378;502;437	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	E	502;502;472	ENSP00000326581:G502E;ENSP00000403051:G502E	ENSP00000292074:G472E	G	-	2	0	ZIM2	62020117	0.968000	0.33430	0.899000	0.35326	0.897000	0.52465	2.413000	0.44618	1.222000	0.43521	0.650000	0.86243	GGG		0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			15	83	0	0	0	0	15	83				
TRAPPC12	51112	broad.mit.edu	37	2	3405563	3405563	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:3405563G>C	ENST00000324266.5	+	3	1258	c.1063G>C	c.(1063-1065)Gac>Cac	p.D355H	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.D355H	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	355					vesicle-mediated transport (GO:0016192)												TGCAGTTAAAGACTTGATGCT	0.378																																						uc002qxm.1		NA																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(1063-1065)GAC>CAC		tetratricopeptide repeat domain 15							142.0	143.0	142.0					2																	3405563		2203	4300	6503	SO:0001583	missense	51112						binding	g.chr2:3405563G>C	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1063G>C	2.37:g.3405563G>C	ENSP00000324318:p.Asp355His					TTC15_uc002qxn.1_Missense_Mutation_p.D355H|TTC15_uc010ewm.1_Missense_Mutation_p.D355H	p.D355H	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)	3	1269	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)	355					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.1063G>C	CCDS1652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.41|14.41	2.525729|2.525729	0.44969|0.44969	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266|ENST00000441983	T;T|.	0.52526|.	0.66;0.66|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77260|0.77260	0.4104|0.4104	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.986;0.991|.	T|T	0.77953|0.77953	-0.2394|-0.2394	10|6	0.56958|0.54805	D|T	0.05|0.06	.|.	18.2588|18.2588	0.90026|0.90026	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	338;355|.	E7ENL7;Q8WVT3|.	.;TPC12_HUMAN|.	H|N	355;338;355|34	ENSP00000371544:D355H;ENSP00000324318:D355H|.	ENSP00000303612:D338H|ENSP00000409960:K34N	D|K	+|+	1|3	0|2	TTC15|TTC15	3384570|3384570	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.675000|8.675000	0.91195|0.91195	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	GAC|AAG		0.378	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		17	135	0	0	0	0	17	135				
FAM179A	165186	broad.mit.edu	37	2	29240047	29240047	+	Missense_Mutation	SNP	C	C	G	rs543539008		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:29240047C>G	ENST00000379558.4	+	9	1423	c.1072C>G	c.(1072-1074)Cgg>Ggg	p.R358G	FAM179A_ENST00000403861.2_Missense_Mutation_p.R358G|FAM179A_ENST00000465300.1_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	358										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAAGTCTGCCCGGGAGAAGAT	0.517																																						uc010ezl.2		NA																	0				ovary(3)|skin(1)	4						c.(1072-1074)CGG>GGG		hypothetical protein LOC165186							116.0	119.0	118.0					2																	29240047		2017	4183	6200	SO:0001583	missense	165186						binding	g.chr2:29240047C>G	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1072C>G	2.37:g.29240047C>G	ENSP00000368876:p.Arg358Gly					FAM179A_uc010ymm.1_Missense_Mutation_p.R358G|FAM179A_uc002rmr.3_Intron	p.R358G	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN			9	1423	+			358					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.1072C>G	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861013	0.32884	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.10668	3.04;2.85	4.75	4.75	0.60458	.	.	.	.	.	T	0.07863	0.0197	N	0.14661	0.345	0.20638	N	0.999872	P;B	0.37573	0.6;0.094	B;B	0.33690	0.168;0.016	T	0.33369	-0.9871	9	0.26408	T	0.33	.	17.6981	0.88288	0.0:1.0:0.0:0.0	.	358;358	F8W8E4;Q6ZUX3	.;F179A_HUMAN	G	358	ENSP00000368876:R358G;ENSP00000384699:R358G	ENSP00000368876:R358G	R	+	1	2	FAM179A	29093551	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	4.468000	0.60162	2.334000	0.79466	0.591000	0.81541	CGG		0.517	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		4	93	0	0	0	0	4	93				
ALMS1	7840	broad.mit.edu	37	2	73826530	73826530	+	Silent	SNP	A	A	G	rs45630561		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:73826530A>G	ENST00000264448.6	+	17	11658	c.11547A>G	c.(11545-11547)gtA>gtG	p.V3849V	ALMS1_ENST00000409009.1_Silent_p.V3807V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3849					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTTCTAGGTAGCAAACCATG	0.368																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(11551-11553)GTA>GTG		Alstrom syndrome 1							202.0	185.0	190.0					2																	73826530		1839	4096	5935	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73826530A>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11547A>G	2.37:g.73826530A>G						ALMS1_uc002sjf.1_Silent_p.V3807V|ALMS1_uc002sjh.1_Silent_p.V3237V	p.V3851V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			19	11664	+			3849					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.11553A>G	CCDS42697.1																																																																																				0.368	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		36	180	0	0	0	0	36	180				
DPP10	57628	broad.mit.edu	37	2	116510785	116510785	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:116510785A>T	ENST00000410059.1	+	11	1466	c.986A>T	c.(985-987)aAt>aTt	p.N329I	DPP10_ENST00000409163.1_Missense_Mutation_p.N279I|DPP10_ENST00000393147.2_Missense_Mutation_p.N333I|DPP10_ENST00000310323.8_Missense_Mutation_p.N322I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	329						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGGGTAAGCAATACCAAGACT	0.363																																						uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(985-987)AAT>ATT		dipeptidyl peptidase 10 isoform long							115.0	101.0	106.0					2																	116510785		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116510785A>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.986A>T	2.37:g.116510785A>T	ENSP00000386565:p.Asn329Ile					DPP10_uc002tlb.1_Missense_Mutation_p.N279I|DPP10_uc002tlc.1_Missense_Mutation_p.N325I|DPP10_uc002tle.2_Missense_Mutation_p.N333I|DPP10_uc002tlf.1_Missense_Mutation_p.N322I	p.N329I	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			11	1443	+			329			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.986A>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896800	0.72639	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.1	5.1	0.69264	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.051476	0.85682	D	0.000000	T	0.51753	0.1693	M	0.66439	2.03	0.51233	D	0.999916	D;D;D;D	0.69078	0.958;0.997;0.966;0.966	P;D;P;P	0.68621	0.693;0.959;0.796;0.796	T	0.51537	-0.8693	10	0.46703	T	0.11	-32.0212	14.2231	0.65841	1.0:0.0:0.0:0.0	.	322;333;325;329	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	I	329;279;333;322;279	ENSP00000386565:N329I;ENSP00000387038:N279I;ENSP00000376855:N333I;ENSP00000309066:N322I	ENSP00000309066:N322I	N	+	2	0	DPP10	116227255	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.037000	0.57311	2.149000	0.67028	0.528000	0.53228	AAT		0.363	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		10	41	0	0	0	0	10	41				
XIRP2	129446	broad.mit.edu	37	2	168107879	168107879	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:168107879T>A	ENST00000409195.1	+	9	10066	c.9977T>A	c.(9976-9978)gTg>gAg	p.V3326E	XIRP2_ENST00000409273.1_Missense_Mutation_p.V3104E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V3326E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3151					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						GAAAATTTCGTGAATGACCCT	0.443																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(9976-9978)GTG>GAG		xin actin-binding repeat containing 2 isoform 1							94.0	92.0	93.0					2																	168107879		1913	4139	6052	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107879T>A	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.9977T>A	2.37:g.168107879T>A	ENSP00000386840:p.Val3326Glu					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V3151E|XIRP2_uc010fpq.2_Missense_Mutation_p.V3104E|XIRP2_uc010fpr.2_Intron	p.V3326E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9995	+			3151					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.9977T>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	5.673	0.308806	0.10733	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02709	4.19;4.19;4.19	5.77	4.61	0.57282	.	0.684498	0.15252	N	0.272251	T	0.03783	0.0107	L	0.43152	1.355	0.09310	N	1	B;B;B	0.25809	0.034;0.057;0.135	B;B;B	0.24541	0.023;0.051;0.054	T	0.34625	-0.9821	10	0.56958	D	0.05	0.8674	9.9079	0.41388	0.0:0.0788:0.0:0.9212	.	3151;3151;3104	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	3326;3326;3104;740	ENSP00000386840:V3326E;ENSP00000295237:V3326E;ENSP00000387255:V3104E	ENSP00000295237:V3326E	V	+	2	0	XIRP2	167816125	0.001000	0.12720	0.001000	0.08648	0.228000	0.25075	1.049000	0.30392	1.113000	0.41760	0.477000	0.44152	GTG		0.443	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		7	78	0	0	0	0	7	78				
FASTKD2	22868	broad.mit.edu	37	2	207651558	207651558	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:207651558A>T	ENST00000236980.6	+	8	1877	c.1529A>T	c.(1528-1530)tAc>tTc	p.Y510F	FASTKD2_ENST00000403094.3_Missense_Mutation_p.Y510F|FASTKD2_ENST00000402774.3_Missense_Mutation_p.Y510F	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	510					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTGATGAATTACTTTCCCCTG	0.403																																						uc002vbu.2		NA																	0				ovary(2)|skin(1)	3						c.(1528-1530)TAC>TTC		FAST kinase domains 2							135.0	126.0	129.0					2																	207651558		2203	4300	6503	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207651558A>T	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1529A>T	2.37:g.207651558A>T	ENSP00000236980:p.Tyr510Phe					FASTKD2_uc002vbv.2_Missense_Mutation_p.Y510F|FASTKD2_uc002vbx.2_Missense_Mutation_p.Y510F|FASTKD2_uc002vbw.1_Missense_Mutation_p.Y510F	p.Y510F	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	8	1939	+			510					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.1529A>T	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.297374	0.23650	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.49139	0.79;0.79;0.79	5.42	3.06	0.35304	FAST kinase leucine-rich (1);	0.572700	0.18168	N	0.149543	T	0.46698	0.1406	L	0.43152	1.355	0.23769	N	0.996895	P;P	0.48589	0.744;0.912	B;P	0.54060	0.359;0.741	T	0.28235	-1.0050	10	0.15499	T	0.54	-29.2328	7.8894	0.29669	0.8342:0.0:0.1658:0.0	.	510;510	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	F	510	ENSP00000236980:Y510F;ENSP00000385990:Y510F;ENSP00000384929:Y510F	ENSP00000236980:Y510F	Y	+	2	0	FASTKD2	207359803	0.997000	0.39634	0.593000	0.28771	0.033000	0.12548	2.785000	0.47782	0.383000	0.24910	0.528000	0.53228	TAC		0.403	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		35	80	0	0	0	0	35	80				
PIKFYVE	200576	broad.mit.edu	37	2	209200049	209200049	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:209200049C>T	ENST00000264380.4	+	25	4320	c.4162C>T	c.(4162-4164)Ctt>Ttt	p.L1388F	PIKFYVE_ENST00000474721.1_3'UTR	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1388					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CATTCGGCTTCTTGAAGTATG	0.363																																						uc002vcz.2		NA																	0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(4162-4164)CTT>TTT		phosphatidylinositol-3-phosphate 5-kinase type							193.0	201.0	198.0					2																	209200049		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209200049C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4162C>T	2.37:g.209200049C>T	ENSP00000264380:p.Leu1388Phe					PIKFYVE_uc002vcy.1_Missense_Mutation_p.L1332F	p.L1388F	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			25	4320	+			1388					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.4162C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694250	0.68386	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.31769	1.48;1.63	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.50360	0.1611	L	0.45581	1.43	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	T	0.30060	-0.9991	10	0.35671	T	0.21	-19.3898	19.1858	0.93644	0.0:1.0:0.0:0.0	.	1388;1332	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	F	1388;964;1332	ENSP00000264380:L1388F;ENSP00000405736:L1332F	ENSP00000264380:L1388F	L	+	1	0	PIKFYVE	208908294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.523000	0.53488	2.640000	0.89533	0.655000	0.94253	CTT		0.363	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		71	134	0	0	0	0	71	134				
CPS1	1373	broad.mit.edu	37	2	211539654	211539654	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:211539654T>A	ENST00000233072.5	+	35	4326	c.4130T>A	c.(4129-4131)gTg>gAg	p.V1377E	CPS1_ENST00000430249.2_Missense_Mutation_p.V1383E|CPS1_ENST00000451903.2_Missense_Mutation_p.V926E	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1377					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TTCCTTGGTGTGGCTGAACAA	0.343																																						uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(4129-4131)GTG>GAG		carbamoyl-phosphate synthetase 1 isoform b							139.0	133.0	135.0					2																	211539654		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211539654T>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4130T>A	2.37:g.211539654T>A	ENSP00000233072:p.Val1377Glu					CPS1_uc010fur.2_Missense_Mutation_p.V1383E|CPS1_uc010fus.2_Missense_Mutation_p.V926E	p.V1377E	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	35	4262	+			1377					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.4130T>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.393062	0.42410	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.82526	-1.62;-1.62;-1.62	5.88	5.88	0.94601	Methylglyoxal synthase-like domain (4);	0.124433	0.56097	D	0.000033	T	0.78142	0.4237	L	0.49455	1.56	0.42091	D	0.991293	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.74093	-0.3776	10	0.48119	T	0.1	-10.1072	10.7177	0.46021	0.1418:0.0:0.0:0.8582	.	1387;1377	Q59HF8;P31327	.;CPSM_HUMAN	E	1383;1385;1377;926	ENSP00000402608:V1383E;ENSP00000233072:V1377E;ENSP00000406136:V926E	ENSP00000233072:V1377E	V	+	2	0	CPS1	211247899	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.999000	0.57031	2.248000	0.74166	0.528000	0.53228	GTG		0.343	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			18	121	0	0	0	0	18	121				
COL4A4	1286	broad.mit.edu	37	2	227920692	227920692	+	Silent	SNP	A	A	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:227920692A>G	ENST00000396625.3	-	30	2892	c.2685T>C	c.(2683-2685)gaT>gaC	p.D895D	COL4A4_ENST00000329662.7_Silent_p.D895D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	895	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTAGCCCATCATCTCCAAAGG	0.582																																						uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(2683-2685)GAT>GAC		alpha 4 type IV collagen precursor							47.0	50.0	49.0					2																	227920692		1860	4098	5958	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227920692A>G		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2685T>C	2.37:g.227920692A>G							p.D895D	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	30	3339	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	895			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.2685T>C	CCDS42828.1																																																																																				0.582	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		5	18	0	0	0	0	5	18				
DGKD	8527	broad.mit.edu	37	2	234296984	234296984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:234296984C>T	ENST00000264057.2	+	2	250	c.238C>T	c.(238-240)Cga>Tga	p.R80*	DGKD_ENST00000489613.1_3'UTR|AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000409813.3_Nonsense_Mutation_p.R36*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	80	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCTTCGAGGGCGAACGCTTTA	0.507																																						uc002vui.1		NA																	0		p.R80Q(1)		central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(238-240)CGA>TGA		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						110.0	103.0	105.0					2																	234296984		2203	4300	6503	SO:0001587	stop_gained	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234296984C>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.238C>T	2.37:g.234296984C>T	ENSP00000264057:p.Arg80*					DGKD_uc002vuj.1_Nonsense_Mutation_p.R36*	p.R80*	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	2	250	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	80			PH.		Q14158|Q6PK55|Q8NG53	Nonsense_Mutation	SNP	ENST00000264057.2	37	c.238C>T	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	34	5.325285	0.95708	.	.	ENSG00000077044	ENST00000264057;ENST00000447484;ENST00000409813	.	.	.	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5545	0.61751	0.1562:0.8438:0.0:0.0	.	.	.	.	X	80;50;36	.	ENSP00000264057:R80X	R	+	1	2	DGKD	233961723	0.972000	0.33761	0.966000	0.40874	0.996000	0.88848	2.011000	0.40922	2.865000	0.98341	0.655000	0.94253	CGA		0.507	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		25	59	0	0	0	0	25	59				
HDAC4	9759	broad.mit.edu	37	2	240061464	240061464	+	Silent	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr2:240061464G>A	ENST00000345617.3	-	9	1685	c.894C>T	c.(892-894)tcC>tcT	p.S298S	HDAC4_ENST00000541256.1_Silent_p.S267S|HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000543185.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	298	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGCTGGGTCCGGAGCCTGGGG	0.677																																						uc002vyk.3		NA																	0				breast(3)|skin(2)|ovary(1)	6						c.(892-894)TCC>TCT		histone deacetylase 4							60.0	64.0	63.0					2																	240061464		2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240061464G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.894C>T	2.37:g.240061464G>A						HDAC4_uc010fyz.1_Silent_p.S293S|HDAC4_uc010zoa.1_Silent_p.S293S|HDAC4_uc010fza.2_Silent_p.S298S|HDAC4_uc010fyy.2_Silent_p.S250S|HDAC4_uc010znz.1_Silent_p.S181S|HDAC4_uc010fzb.1_RNA	p.S298S	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	9	1686	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	298			Interaction with MEF2A.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.894C>T	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	9.171	1.021220	0.19433	.	.	ENSG00000068024	ENST00000445704	.	.	.	4.47	-8.95	0.00765	.	.	.	.	.	T	0.42810	0.1219	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47971	-0.9075	4	.	.	.	.	5.3513	0.16038	0.5937:0.1907:0.1198:0.0958	.	.	.	.	L	42	.	.	P	-	2	0	HDAC4	239726401	0.000000	0.05858	0.093000	0.20910	0.866000	0.49608	-1.909000	0.01586	-1.760000	0.01312	-1.406000	0.01132	CCG		0.677	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		16	28	0	0	0	0	16	28				
XRN2	22803	broad.mit.edu	37	20	21336733	21336733	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr20:21336733T>C	ENST00000377191.3	+	22	2131	c.2036T>C	c.(2035-2037)cTt>cCt	p.L679P	XRN2_ENST00000539513.1_Missense_Mutation_p.L625P|XRN2_ENST00000430571.2_Missense_Mutation_p.L603P	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	679					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AGAAACAGCCTTGGAGGTGAT	0.403																																						uc002wsf.1		NA																	0				skin(1)	1						c.(2035-2037)CTT>CCT		5'-3' exoribonuclease 2							138.0	132.0	134.0					20																	21336733		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21336733T>C	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2036T>C	20.37:g.21336733T>C	ENSP00000366396:p.Leu679Pro					XRN2_uc002wsg.1_Missense_Mutation_p.L603P|XRN2_uc010zsk.1_Missense_Mutation_p.L625P	p.L679P	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN			22	2131	+			679					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.2036T>C	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360146	0.61403	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.33865	1.4;1.4;1.39	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.50837	0.1639	L	0.56769	1.78	0.80722	D	1	D	0.64830	0.994	P	0.56278	0.795	T	0.43426	-0.9392	10	0.35671	T	0.21	-16.1108	16.3871	0.83514	0.0:0.0:0.0:1.0	.	679	Q9H0D6	XRN2_HUMAN	P	679;603;625	ENSP00000366396:L679P;ENSP00000413548:L603P;ENSP00000441113:L625P	ENSP00000366396:L679P	L	+	2	0	XRN2	21284733	1.000000	0.71417	0.998000	0.56505	0.642000	0.38348	7.673000	0.83973	2.270000	0.75569	0.482000	0.46254	CTT		0.403	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		7	55	0	0	0	0	7	55				
NELFCD	51497	broad.mit.edu	37	20	57564012	57564012	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr20:57564012G>C	ENST00000344018.3	+	5	494	c.467G>C	c.(466-468)cGg>cCg	p.R156P	NELFCD_ENST00000602795.1_Missense_Mutation_p.R165P			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	156					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											ACCACGTGGCGGGACCTTTTT	0.478																																						uc002yag.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(466-468)CGG>CCG		TH1-like protein							98.0	89.0	92.0					20																	57564012		2203	4300	6503	SO:0001583	missense	51497				negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding	g.chr20:57564012G>C	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.467G>C	20.37:g.57564012G>C	ENSP00000342300:p.Arg156Pro					TH1L_uc010zzu.1_Missense_Mutation_p.R156P|TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Missense_Mutation_p.R156P	p.R156P	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Colorectal(105;0.109)		5	494	+	all_lung(29;0.00711)		156					B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37	c.467G>C		.	.	.	.	.	.	.	.	.	.	G	18.59	3.657615	0.67586	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.84120	0.5402	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.995;0.998	D	0.86947	0.2083	9	0.72032	D	0.01	-19.9088	16.9062	0.86128	0.0:0.0:1.0:0.0	.	156;165;156	B4E2K1;E1P5H4;Q8IXH7	.;.;NELFD_HUMAN	P	156	.	ENSP00000342300:R156P	R	+	2	0	TH1L	56997407	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	9.251000	0.95483	2.499000	0.84300	0.561000	0.74099	CGG		0.478	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		3	46	0	0	0	0	3	46				
TTC3	7267	broad.mit.edu	37	21	38516833	38516833	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr21:38516833A>C	ENST00000399017.2	+	21	4528	c.1781A>C	c.(1780-1782)gAa>gCa	p.E594A	TTC3_ENST00000355666.1_Missense_Mutation_p.E594A|TTC3_ENST00000540756.1_Missense_Mutation_p.E284A|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.E594A	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	594					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGATTTCTAGAAGCTCTCAAT	0.373																																					Ovarian(38;194 1649 35661)	uc002yvz.2		NA																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(1780-1782)GAA>GCA		tetratricopeptide repeat domain 3							103.0	100.0	101.0					21																	38516833		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38516833A>C	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1781A>C	21.37:g.38516833A>C	ENSP00000381981:p.Glu594Ala					TTC3_uc011aee.1_Missense_Mutation_p.E284A|TTC3_uc002ywa.2_Missense_Mutation_p.E594A|TTC3_uc002ywb.2_Missense_Mutation_p.E594A|TTC3_uc010gnf.2_Missense_Mutation_p.E359A|TTC3_uc002ywc.2_Missense_Mutation_p.E284A|TTC3_uc011aed.1_Missense_Mutation_p.E284A|TTC3_uc010gne.1_Missense_Mutation_p.E594A	p.E594A	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			21	1886	+		Myeloproliferative disorder(46;0.0412)	594			TPR 4.		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.1781A>C	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.028722	0.54790	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.38	5.38	0.77491	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.636167	0.15347	N	0.267188	T	0.59851	0.2224	N	0.08118	0	0.40921	D	0.984311	B;D	0.53151	0.284;0.958	B;P	0.52066	0.231;0.689	T	0.68296	-0.5446	10	0.72032	D	0.01	-12.4469	15.3319	0.74219	1.0:0.0:0.0:0.0	.	284;594	B4DSZ9;P53804	.;TTC3_HUMAN	A	594;594;576;594;284;594;594	ENSP00000403943:E594A;ENSP00000408456:E594A;ENSP00000391891:E576A;ENSP00000347889:E594A;ENSP00000442875:E284A;ENSP00000381981:E594A;ENSP00000346791:E594A	ENSP00000346791:E594A	E	+	2	0	TTC3	37438703	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.586000	0.74067	2.157000	0.67596	0.533000	0.62120	GAA		0.373	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			25	83	0	0	0	0	25	83				
IGSF5	150084	broad.mit.edu	37	21	41151062	41151063	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr21:41151062_41151063CG>AT	ENST00000380588.4	+	5	867_868	c.764_765CG>AT	c.(763-765)cCG>cAT	p.P255H	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	255					single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TCAAGTTTACCGAGTTTAGGTT	0.411																																						uc002yyo.2		NA																	0					0						c.(763-765)CCG>CAT		immunoglobulin superfamily 5 like																																				SO:0001583	missense	150084					integral to membrane|tight junction		g.chr21:41151062_41151063CG>AT		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	Exception_encountered	21.37:g.41151062_41151063delinsAT	ENSP00000369962:p.Pro255His						p.P255H	NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN			5	867_868	+		Prostate(19;5.35e-06)	255			Extracellular (Potential).			Missense_Mutation	DNP	ENST00000380588.4	37	c.764_765CG>AT	CCDS33562.1																																																																																				0.411	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			5	68	0	0	0	0	5	68				
NEFH	4744	broad.mit.edu	37	22	29885318	29885318	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr22:29885318G>T	ENST00000310624.6	+	4	1722	c.1689G>T	c.(1687-1689)gaG>gaT	p.E563D		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	563	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CACCGCCTGAGGCCAAGTCCC	0.572																																						uc003afo.2		NA																	0					0						c.(1687-1689)GAG>GAT		neurofilament, heavy polypeptide 200kDa							67.0	69.0	68.0					22																	29885318		2203	4300	6503	SO:0001583	missense	4744				cell death|nervous system development	neurofilament		g.chr22:29885318G>T		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1689G>T	22.37:g.29885318G>T	ENSP00000311997:p.Glu563Asp					NEFH_uc003afp.2_Intron	p.E563D	NM_021076	NP_066554	P12036	NFH_HUMAN			4	1760	+			563			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|5.|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	c.1689G>T	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626273	0.28978	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.84800	-1.9	4.92	-2.63	0.06133	.	0.549753	0.15465	N	0.260955	T	0.67859	0.2938	N	0.19112	0.55	0.09310	N	1	B	0.31413	0.322	B	0.28139	0.086	T	0.58702	-0.7590	10	0.87932	D	0	.	4.3276	0.11048	0.5193:0.0:0.3132:0.1675	.	563	P12036	NFH_HUMAN	D	563	ENSP00000311997:E563D	ENSP00000311997:E563D	E	+	3	2	NEFH	28215318	0.746000	0.28272	0.000000	0.03702	0.009000	0.06853	0.082000	0.14847	-0.454000	0.07066	-0.136000	0.14681	GAG		0.572	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		6	39	1	0	2.01e-06	4.26e-05	6	39				
DEPDC5	9681	broad.mit.edu	37	22	32200153	32200153	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr22:32200153G>T	ENST00000382112.3	+	15	1157	c.1087G>T	c.(1087-1089)Ggt>Tgt	p.G363C	DEPDC5_ENST00000382111.2_Missense_Mutation_p.G363C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G363C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.G363C|DEPDC5_ENST00000400242.3_Missense_Mutation_p.G363C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.G363C|DEPDC5_ENST00000400246.1_Missense_Mutation_p.G363C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G363C|DEPDC5_ENST00000536766.1_Missense_Mutation_p.G335C|DEPDC5_ENST00000400248.2_Missense_Mutation_p.G363C	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	363					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTTAGGAATTGGTGTGGATTT	0.393																																						uc003als.2		NA																	0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(1087-1089)GGT>TGT		DEP domain containing 5 isoform 1							138.0	129.0	132.0					22																	32200153		1858	4097	5955	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32200153G>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1087G>T	22.37:g.32200153G>T	ENSP00000371546:p.Gly363Cys					DEPDC5_uc011als.1_Missense_Mutation_p.G363C|DEPDC5_uc011alu.1_Missense_Mutation_p.G363C|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.G363C|DEPDC5_uc003alr.1_Missense_Mutation_p.G363C|DEPDC5_uc011alt.1_Missense_Mutation_p.G335C	p.G363C	NM_014662	NP_055477	O75140	DEPD5_HUMAN			16	1229	+			363					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.1087G>T	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492738	0.84962	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.58940	0.73;0.76;0.3;1.09;1.09;1.05;0.71;1.09;1.05;1.09	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.80628	0.4659	M	0.89478	3.035	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.995;1.0;0.998;1.0;0.999	D	0.84597	0.0670	10	0.87932	D	0	.	17.9204	0.88964	0.0:0.0:1.0:0.0	.	363;335;363;363;363;363	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	C	363;335;363;363;363;363;363;363;363;363;363	ENSP00000440210:G363C;ENSP00000441358:G335C;ENSP00000383101:G363C;ENSP00000266091:G363C;ENSP00000383108:G363C;ENSP00000383105:G363C;ENSP00000371539:G363C;ENSP00000371546:G363C;ENSP00000371545:G363C;ENSP00000383107:G363C	ENSP00000266091:G363C	G	+	1	0	DEPDC5	30530153	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	8.609000	0.90898	2.469000	0.83416	0.555000	0.69702	GGT		0.393	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		7	69	1	0	8.13e-05	0.00160786	7	69				
IQSEC1	9922	broad.mit.edu	37	3	12977740	12977740	+	Missense_Mutation	SNP	G	G	A	rs370578211		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:12977740G>A	ENST00000273221.4	-	3	1034	c.818C>T	c.(817-819)gCg>gTg	p.A273V	IQSEC1_ENST00000473088.1_5'Flank	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	273					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCCCGCGCCGCATCCAGGGC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17901	0.001		0.0	False		,,,				2504	0.0					uc003bxt.2		NA																	0				ovary(1)	1						c.(817-819)GCG>GTG		IQ motif and Sec7 domain 1 isoform b		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	59.0	61.0	60.0		776,818	0.4	0.0	3		60	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	IQSEC1	NM_001134382.1,NM_014869.4	64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	259/1115,273/964	12977740	2,13004	2203	4300	6503	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12977740G>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.818C>T	3.37:g.12977740G>A	ENSP00000273221:p.Ala273Val					IQSEC1_uc003bxu.3_Missense_Mutation_p.A151V|IQSEC1_uc011auw.1_Missense_Mutation_p.A259V	p.A273V	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN			3	827	-			273					O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.818C>T	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	G	2.585	-0.296633	0.05532	0.0	2.33E-4	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.42131	0.98;0.98	4.57	0.428	0.16499	.	1.951070	0.01959	N	0.043232	T	0.23289	0.0563	.	.	.	0.09310	N	1	B;P;B	0.36412	0.271;0.552;0.089	B;B;B	0.22152	0.024;0.038;0.007	T	0.11060	-1.0603	9	0.27082	T	0.32	.	4.8051	0.13316	0.3778:0.0:0.4533:0.1689	.	259;259;273	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	V	273;259;259	ENSP00000273221:A273V;ENSP00000402299:A259V	ENSP00000273221:A273V	A	-	2	0	IQSEC1	12952740	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.316000	0.19469	-0.118000	0.11851	-0.137000	0.14449	GCG		0.642	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		8	24	0	0	0	0	8	24				
KCNH8	131096	broad.mit.edu	37	3	19498349	19498349	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:19498349C>A	ENST00000328405.2	+	11	2181	c.1915C>A	c.(1915-1917)Ctc>Atc	p.L639I		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	639					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTACTGTGATCTCCAGTGTAT	0.403																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NA																	0				lung(4)|ovary(1)	5						c.(1915-1917)CTC>ATC		potassium voltage-gated channel, subfamily H,							162.0	144.0	150.0					3																	19498349		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19498349C>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1915C>A	3.37:g.19498349C>A	ENSP00000328813:p.Leu639Ile					KCNH8_uc010hex.1_Missense_Mutation_p.L100I	p.L639I	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			11	2110	+			639			cNMP.|Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1915C>A	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097329	0.76870	.	.	ENSG00000183960	ENST00000328405	D	0.97529	-4.42	5.64	5.64	0.86602	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.28877	U	0.013843	D	0.98548	0.9515	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98792	1.0736	9	.	.	.	.	19.7082	0.96082	0.0:1.0:0.0:0.0	.	639	Q96L42	KCNH8_HUMAN	I	639	ENSP00000328813:L639I	.	L	+	1	0	KCNH8	19473353	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	4.886000	0.63149	2.676000	0.91093	0.557000	0.71058	CTC		0.403	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		21	50	1	0	5.26e-13	1.2e-11	21	50				
XIRP1	165904	broad.mit.edu	37	3	39227609	39227609	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:39227609C>A	ENST00000340369.3	-	2	3556	c.3328G>T	c.(3328-3330)Gat>Tat	p.D1110Y	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.D1110Y	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1110					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATCCGGGGATCACTTCCACCC	0.607																																						uc003cjk.1		NA																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(3328-3330)GAT>TAT		xin actin-binding repeat containing 1							63.0	66.0	65.0					3																	39227609		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39227609C>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3328G>T	3.37:g.39227609C>A	ENSP00000343140:p.Asp1110Tyr					XIRP1_uc003cji.2_Missense_Mutation_p.D1110Y|XIRP1_uc003cjj.2_Intron	p.D1110Y	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3549	-			1110					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3328G>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016676	0.35606	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.06068	3.35;3.83	4.69	2.9	0.33743	.	1.339030	0.04948	U	0.459670	T	0.15305	0.0369	L	0.50333	1.59	0.34379	D	0.692844	D;P	0.67145	0.996;0.946	P;P	0.57620	0.819;0.824	T	0.09818	-1.0657	10	0.87932	D	0	.	5.2121	0.15322	0.0:0.647:0.1686:0.1843	.	1110;1110	Q702N8;Q702N8-2	XIRP1_HUMAN;.	Y	1110	ENSP00000379550:D1110Y;ENSP00000343140:D1110Y	ENSP00000343140:D1110Y	D	-	1	0	XIRP1	39202613	0.469000	0.25846	0.562000	0.28370	0.682000	0.39822	0.667000	0.25112	0.721000	0.32231	0.655000	0.94253	GAT		0.607	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		12	28	1	0	6.4e-05	0.00127371	12	28				
ZNF660	285349	broad.mit.edu	37	3	44636533	44636533	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:44636533T>A	ENST00000322734.2	+	3	1181	c.848T>A	c.(847-849)tTc>tAc	p.F283Y	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		GGGAAAACCTTCAGGCAGACT	0.413																																						uc003cnl.1		NA																	0					0						c.(847-849)TTC>TAC		zinc finger protein 660							49.0	51.0	51.0					3																	44636533		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44636533T>A	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.848T>A	3.37:g.44636533T>A	ENSP00000324605:p.Phe283Tyr						p.F283Y	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	1181	+			283			C2H2-type 9.		Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.848T>A	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.332354	0.81801	.	.	ENSG00000144792	ENST00000322734	T	0.40756	1.02	4.21	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53965	0.1829	L	0.43598	1.365	0.80722	D	1	D	0.65815	0.995	D	0.83275	0.996	T	0.50996	-0.8761	8	.	.	.	.	12.6704	0.56864	0.0:0.0:0.0:1.0	.	283	Q6AZW8	ZN660_HUMAN	Y	283	ENSP00000324605:F283Y	.	F	+	2	0	ZNF660	44611537	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.902000	0.69869	1.887000	0.54652	0.528000	0.53228	TTC		0.413	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		11	25	0	0	0	0	11	25				
CELSR3	1951	broad.mit.edu	37	3	48694142	48694142	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:48694142G>C	ENST00000164024.4	-	2	4668	c.4388C>G	c.(4387-4389)cCg>cGg	p.P1463R	CELSR3_ENST00000544264.1_Missense_Mutation_p.P1463R	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1463	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTGAAGCGCGGGCGGCAGAC	0.687																																						uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(4387-4389)CCG>CGG		cadherin EGF LAG seven-pass G-type receptor 3							8.0	8.0	8.0					3																	48694142		2156	4215	6371	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48694142G>C	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.4388C>G	3.37:g.48694142G>C	ENSP00000164024:p.Pro1463Arg					CELSR3_uc003cuf.1_Missense_Mutation_p.P1533R	p.P1463R	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	2	4669	-			1463			Extracellular (Potential).|EGF-like 2; calcium-binding.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.4388C>G	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	9.499	1.102686	0.20632	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	D;D	0.96200	-3.94;-3.94	4.9	4.9	0.64082	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.92554	0.7635	M	0.64567	1.98	0.43296	D	0.995281	P;P	0.50066	0.739;0.931	B;B	0.39217	0.165;0.294	D	0.90617	0.4556	9	0.27785	T	0.31	.	11.1882	0.48669	0.0:0.0:0.6866:0.3134	.	1463;1533	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	R	1463	ENSP00000164024:P1463R;ENSP00000445694:P1463R	ENSP00000164024:P1463R	P	-	2	0	CELSR3	48669146	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	4.504000	0.60414	2.560000	0.86352	0.549000	0.68633	CCG		0.687	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		2	1	0	0	0	0	2	1				
IP6K1	9807	broad.mit.edu	37	3	49775724	49775724	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:49775724G>C	ENST00000321599.4	-	3	656	c.355C>G	c.(355-357)Cgc>Ggc	p.R119G	IP6K1_ENST00000395238.1_5'UTR|IP6K1_ENST00000460540.1_5'UTR|IP6K1_ENST00000468463.1_Missense_Mutation_p.R119G	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	119					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.R119S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						AGGCTCCGGCGGGAGTGTTTG	0.542																																						uc003cxm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(355-357)CGC>GGC		inositol hexakisphosphate kinase 1 isoform 1							137.0	111.0	120.0					3																	49775724		2203	4300	6503	SO:0001583	missense	9807				phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:49775724G>C	D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"""inositol hexaphosphate kinase 1"""	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.355C>G	3.37:g.49775724G>C	ENSP00000323780:p.Arg119Gly					IP6K1_uc003cxn.1_5'UTR|IP6K1_uc011bcv.1_5'UTR|IP6K1_uc003cxo.2_Missense_Mutation_p.R119G	p.R119G	NM_153273	NP_695005	Q92551	IP6K1_HUMAN			3	670	-			119					A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	ENST00000321599.4	37	c.355C>G	CCDS33760.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880481	0.91740	.	.	ENSG00000176095	ENST00000321599;ENST00000468463	T;T	0.50813	0.73;0.73	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.63428	1.95	0.80722	D	1	D;D	0.63880	0.958;0.993	B;P	0.53912	0.43;0.737	T	0.57740	-0.7759	10	0.41790	T	0.15	-24.6383	20.3363	0.98740	0.0:0.0:1.0:0.0	.	119;119	C9JNA8;Q92551	.;IP6K1_HUMAN	G	119	ENSP00000323780:R119G;ENSP00000420467:R119G	ENSP00000323780:R119G	R	-	1	0	IP6K1	49750728	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.319000	0.79040	2.814000	0.96858	0.563000	0.77884	CGC		0.542	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350380.1	NM_153273		4	39	0	0	0	0	4	39				
CCDC14	64770	broad.mit.edu	37	3	123665745	123665745	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:123665745T>A	ENST00000488653.2	-	8	1340	c.1250A>T	c.(1249-1251)gAt>gTt	p.D417V	CCDC14_ENST00000485727.1_Missense_Mutation_p.D217V|CCDC14_ENST00000310351.4_Missense_Mutation_p.D257V|CCDC14_ENST00000433542.2_Missense_Mutation_p.D376V|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.D217V			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	417					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		CTTCTGTACATCCTTCACTGT	0.383																																						uc011bjx.1		NA																	0					0						c.(1249-1251)GAT>GTT		coiled-coil domain containing 14							195.0	199.0	198.0					3																	123665745		2203	4300	6503	SO:0001583	missense	64770					centrosome		g.chr3:123665745T>A	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1250A>T	3.37:g.123665745T>A	ENSP00000420180:p.Asp417Val					CCDC14_uc003egv.3_Intron|CCDC14_uc003egx.3_Missense_Mutation_p.D217V|CCDC14_uc010hrt.2_Missense_Mutation_p.D376V|CCDC14_uc003egy.3_Missense_Mutation_p.D217V|CCDC14_uc003egz.2_Missense_Mutation_p.D217V	p.D417V	NM_022757	NP_073594	Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	8	1341	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	417					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37	c.1250A>T		.	.	.	.	.	.	.	.	.	.	T	16.58	3.162293	0.57368	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000426152	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.65	1.97	0.26223	.	0.499970	0.20011	N	0.101136	T	0.48750	0.1517	L	0.53249	1.67	0.40256	D	0.978125	D;D;D	0.53151	0.958;0.958;0.958	P;P;P	0.53649	0.663;0.663;0.731	T	0.44667	-0.9313	10	0.45353	T	0.12	.	5.4095	0.16341	0.0:0.224:0.1377:0.6383	.	417;376;217	Q49A88;Q49A88-6;Q49A88-4	CCD14_HUMAN;.;.	V	417;257;217;217;376;398;143	ENSP00000420180:D417V;ENSP00000312031:D257V;ENSP00000418002:D217V;ENSP00000418403:D217V;ENSP00000395706:D376V;ENSP00000386866:D398V;ENSP00000414655:D143V	ENSP00000312031:D257V	D	-	2	0	CCDC14	125148435	0.881000	0.30235	0.868000	0.34077	0.951000	0.60555	1.358000	0.34102	0.577000	0.29470	0.533000	0.62120	GAT		0.383	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		29	157	0	0	0	0	29	157				
CLSTN2	64084	broad.mit.edu	37	3	140251222	140251222	+	Silent	SNP	C	C	A	rs562393278		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:140251222C>A	ENST00000458420.3	+	9	1591	c.1401C>A	c.(1399-1401)acC>acA	p.T467T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	467					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTGTGGTAACCTTATACATGG	0.413										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1399-1401)ACC>ACA		calsyntenin 2 precursor							157.0	138.0	145.0					3																	140251222		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140251222C>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1401C>A	3.37:g.140251222C>A		HNSCC(16;0.037)				CLSTN2_uc003etm.2_Silent_p.T467T	p.T467T	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			9	1591	+			467			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.1401C>A	CCDS3112.1																																																																																				0.413	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		17	124	1	0	5.35e-07	1.16e-05	17	124				
TNIK	23043	broad.mit.edu	37	3	170858204	170858204	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:170858204C>A	ENST00000436636.2	-	13	1660	c.1316G>T	c.(1315-1317)cGt>cTt	p.R439L	TNIK_ENST00000538048.1_Missense_Mutation_p.R439L|TNIK_ENST00000341852.6_Missense_Mutation_p.R439L|TNIK_ENST00000357327.5_Missense_Mutation_p.R439L|TNIK_ENST00000460047.1_Missense_Mutation_p.R439L|TNIK_ENST00000488470.1_Missense_Mutation_p.R439L|TNIK_ENST00000369326.5_Missense_Mutation_p.R439L|TNIK_ENST00000470834.1_Missense_Mutation_p.R439L|TNIK_ENST00000475336.1_Missense_Mutation_p.R439L|TNIK_ENST00000284483.8_Missense_Mutation_p.R439L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	439	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ATGCTCCGCACGCCTCCTCTC	0.652																																						uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(1315-1317)CGT>CTT		TRAF2 and NCK interacting kinase isoform 1							89.0	98.0	95.0					3																	170858204		2049	4191	6240	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170858204C>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1316G>T	3.37:g.170858204C>A	ENSP00000399511:p.Arg439Leu					TNIK_uc003fhi.2_Missense_Mutation_p.R439L|TNIK_uc003fhj.2_Missense_Mutation_p.R439L|TNIK_uc003fhk.2_Missense_Mutation_p.R439L|TNIK_uc003fhl.2_Missense_Mutation_p.R439L|TNIK_uc003fhm.2_Missense_Mutation_p.R439L|TNIK_uc003fhn.2_Missense_Mutation_p.R439L|TNIK_uc003fho.2_Missense_Mutation_p.R439L	p.R439L	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		13	1661	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		439			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.1316G>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679200	0.47886	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.41758	1.01;0.99;1.01;0.99;1.01;0.99;0.99;1.01;1.01;0.99	5.55	5.55	0.83447	.	0.052642	0.85682	D	0.000000	T	0.35941	0.0949	N	0.25890	0.77	0.53005	D	0.999967	B;B;B;B;B;B;B;B	0.09022	0.002;0.002;0.002;0.002;0.002;0.002;0.002;0.001	B;B;B;B;B;B;B;B	0.10450	0.005;0.005;0.005;0.005;0.005;0.005;0.005;0.002	T	0.10177	-1.0641	10	0.56958	D	0.05	.	19.1249	0.93378	0.0:1.0:0.0:0.0	.	439;439;439;439;439;439;439;439	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	L	439	ENSP00000399511:R439L;ENSP00000358332:R439L;ENSP00000443278:R439L;ENSP00000345352:R439L;ENSP00000284483:R439L;ENSP00000418156:R439L;ENSP00000349880:R439L;ENSP00000418916:R439L;ENSP00000418378:R439L;ENSP00000419990:R439L	ENSP00000284483:R439L	R	-	2	0	TNIK	172340898	0.998000	0.40836	0.961000	0.40146	0.175000	0.22909	3.486000	0.53215	2.608000	0.88229	0.650000	0.86243	CGT		0.652	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		30	112	1	0	6.06e-23	1.4e-21	30	112				
PIK3CA	5290	broad.mit.edu	37	3	178948153	178948153	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:178948153A>T	ENST00000263967.3	+	20	3082	c.2925A>T	c.(2923-2925)agA>agT	p.R975S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	975	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CAAAGACAAGAGAATTTGAGA	0.323		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		0				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(2923-2925)AGA>AGT		phosphoinositide-3-kinase, catalytic, alpha							69.0	67.0	67.0					3																	178948153		1805	4078	5883	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178948153A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2925A>T	3.37:g.178948153A>T	ENSP00000263967:p.Arg975Ser	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R975S	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		20	3082	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		975			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.2925A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.718632	0.48622	.	.	ENSG00000121879	ENST00000263967	T	0.75260	-0.92	4.99	4.99	0.66335	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.114616	0.64402	D	0.000017	T	0.45975	0.1369	N	0.03050	-0.425	0.80722	D	1	B	0.18968	0.032	B	0.21151	0.033	T	0.41787	-0.9489	10	0.22109	T	0.4	-16.589	5.6532	0.17629	0.7773:0.0:0.2227:0.0	.	975	P42336	PK3CA_HUMAN	S	975	ENSP00000263967:R975S	ENSP00000263967:R975S	R	+	3	2	PIK3CA	180430847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.035000	0.30216	1.990000	0.58119	0.477000	0.44152	AGA		0.323	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			12	245	0	0	0	0	12	245				
TTC14	151613	broad.mit.edu	37	3	180321093	180321093	+	Silent	SNP	A	A	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:180321093A>T	ENST00000296015.4	+	3	600	c.468A>T	c.(466-468)atA>atT	p.I156I	TTC14_ENST00000412756.2_Silent_p.I156I|RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000382584.4_Silent_p.I156I	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	156	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.						RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGAGAGATATAGCCCACTTAG	0.358																																						uc003fkk.2		NA																	0				ovary(1)	1						c.(466-468)ATA>ATT		tetratricopeptide repeat domain 14 isoform a							171.0	160.0	164.0					3																	180321093		2203	4300	6503	SO:0001819	synonymous_variant	151613						RNA binding	g.chr3:180321093A>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.468A>T	3.37:g.180321093A>T						TTC14_uc003fkl.2_Silent_p.I156I|TTC14_uc003fkm.2_Silent_p.I156I	p.I156I	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		3	600	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		156			S1 motif.		G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	37	c.468A>T	CCDS3237.1																																																																																				0.358	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		16	170	0	0	0	0	16	170				
MASP1	5648	broad.mit.edu	37	3	186968049	186968050	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:186968049_186968050GG>TT	ENST00000337774.5	-	8	1468_1469	c.1079_1080CC>AA	c.(1078-1080)cCC>cAA	p.P360Q	MASP1_ENST00000392470.2_Missense_Mutation_p.P334Q|MASP1_ENST00000169293.6_Missense_Mutation_p.P360Q|MASP1_ENST00000296280.6_Missense_Mutation_p.P360Q|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.P247Q	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	360	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TTTTACAGGTGGGAATCTTGTT	0.49																																						uc003frh.1		NA																	0				ovary(2)|breast(1)|liver(1)	4						c.(1078-1080)CCC>CAA		mannan-binding lectin serine protease 1 isoform																																				SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186968049_186968050GG>TT	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1079_1080delinsTT	3.37:g.186968049_186968050delinsTT	ENSP00000336792:p.Pro360Gln					MASP1_uc003fri.2_Missense_Mutation_p.P360Q|MASP1_uc003frj.2_Missense_Mutation_p.P329Q|MASP1_uc003frk.1_Missense_Mutation_p.P360Q|MASP1_uc011bse.1_Missense_Mutation_p.P334Q	p.P360Q	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	8	1411_1412	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		360			Sushi 1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	DNP	ENST00000337774.5	37	c.1079_1080CC>AA	CCDS33907.1																																																																																				0.490	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		11	260	0	0	0	0	11	260				
ATP13A4	84239	broad.mit.edu	37	3	193166098	193166098	+	Silent	SNP	C	C	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:193166098C>G	ENST00000342695.4	-	18	2371	c.2049G>C	c.(2047-2049)ctG>ctC	p.L683L	ATP13A4_ENST00000392443.3_Silent_p.L664L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	683						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCAGAAATATCAGGTCTGATT	0.408																																						uc003ftd.2		NA																	0				ovary(2)	2						c.(2047-2049)CTG>CTC		ATPase type 13A4							108.0	103.0	105.0					3																	193166098		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193166098C>G	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2049G>C	3.37:g.193166098C>G						ATP13A4_uc003fte.1_Silent_p.L683L|ATP13A4_uc011bsr.1_Silent_p.L154L|ATP13A4_uc010hzi.2_RNA	p.L683L	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	18	2157	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		683			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.2049G>C	CCDS3304.2																																																																																				0.408	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		33	97	0	0	0	0	33	97				
SMCO1	255798	broad.mit.edu	37	3	196235135	196235135	+	Missense_Mutation	SNP	G	G	C	rs374608743		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:196235135G>C	ENST00000397537.2	-	3	424	c.268C>G	c.(268-270)Cgt>Ggt	p.R90G		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	90						integral component of membrane (GO:0016021)											TCAAGCACACGAGTATGCAAG	0.423																																						uc003fws.2		NA																	0				ovary(1)	1						c.(268-270)CGT>GGT		hypothetical protein LOC255798							104.0	100.0	102.0					3																	196235135		1899	4130	6029	SO:0001583	missense	255798					integral to membrane		g.chr3:196235135G>C	AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 43"""	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.268C>G	3.37:g.196235135G>C	ENSP00000380671:p.Arg90Gly					C3orf43_uc003fwr.2_Missense_Mutation_p.R82G	p.R90G	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)	3	425	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		90					B3KW20	Missense_Mutation	SNP	ENST00000397537.2	37	c.268C>G	CCDS43192.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279299	0.40294	.	.	ENSG00000214097	ENST00000397537	T	0.34275	1.37	5.46	4.58	0.56647	.	.	.	.	.	T	0.29850	0.0746	L	0.29908	0.895	0.27813	N	0.942062	B;B	0.30914	0.3;0.3	B;B	0.34536	0.185;0.185	T	0.20009	-1.0288	9	0.41790	T	0.15	1.3821	11.4876	0.50363	0.0845:0.0:0.9155:0.0	.	90;82	Q147U7;E9PGG7	CC043_HUMAN;.	G	90	ENSP00000380671:R90G	ENSP00000380671:R90G	R	-	1	0	C3orf43	197719532	0.461000	0.25783	0.596000	0.28811	0.935000	0.57460	1.607000	0.36836	1.301000	0.44836	0.655000	0.94253	CGT		0.423	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340776.1	NM_001006109		6	200	0	0	0	0	6	200				
TRMT44	152992	broad.mit.edu	37	4	8469757	8469757	+	Nonsense_Mutation	SNP	G	G	A	rs35357682	byFrequency	TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr4:8469757G>A	ENST00000389737.4	+	9	1611	c.1611G>A	c.(1609-1611)tgG>tgA	p.W537*	TRMT44_ENST00000513449.2_Nonsense_Mutation_p.W296*	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	537					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										CACCTGGCTGGGAGCTTTCCC	0.587																																						uc003glg.1		NA																	0					0						c.(922-924)TGG>TGA		hypothetical protein LOC152992 isoform 2							43.0	46.0	45.0					4																	8469757		2203	4300	6503	SO:0001587	stop_gained	152992				tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:8469757G>A	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1611G>A	4.37:g.8469757G>A	ENSP00000374387:p.Trp537*					C4orf23_uc003glf.1_Nonsense_Mutation_p.W296*|C4orf23_uc003glh.1_Nonsense_Mutation_p.W145*	p.W308*	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN			9	1112	+			537					Q8NA95	Nonsense_Mutation	SNP	ENST00000389737.4	37	c.924G>A	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145045	0.77888	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	.	.	.	4.49	1.7	0.24286	.	1.232250	0.05370	N	0.535291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	1.0191	6.141	0.20259	0.2339:0.1362:0.6298:0.0	.	.	.	.	X	296;537;145	.	ENSP00000285635:W145X	W	+	3	0	METTL19	8520657	.	.	0.000000	0.03702	0.000000	0.00434	.	.	0.502000	0.28037	-0.137000	0.14449	TGG		0.587	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		4	16	0	0	0	0	4	16				
LDB2	9079	broad.mit.edu	37	4	16760797	16760797	+	Silent	SNP	A	A	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr4:16760797A>G	ENST00000304523.5	-	2	542	c.219T>C	c.(217-219)gaT>gaC	p.D73D	LDB2_ENST00000441778.2_Silent_p.D73D|LDB2_ENST00000515064.1_Silent_p.D73D|LDB2_ENST00000502640.1_Silent_p.D73D	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	73					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GCTTTGGTCCATCTTCCAAAC	0.418																																						uc003goz.2		NA																	0					0						c.(217-219)GAT>GAC		LIM domain binding 2 isoform a							93.0	90.0	91.0					4																	16760797		2203	4300	6503	SO:0001819	synonymous_variant	9079						LIM domain binding|transcription cofactor activity	g.chr4:16760797A>G	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.219T>C	4.37:g.16760797A>G						LDB2_uc003gpa.2_Silent_p.D73D|LDB2_uc003gpb.2_Silent_p.D73D|LDB2_uc011bxh.1_Silent_p.D73D|LDB2_uc010iee.2_Silent_p.D73D	p.D73D	NM_001290	NP_001281	O43679	LDB2_HUMAN			2	535	-			73					O60619|O75480	Silent	SNP	ENST00000304523.5	37	c.219T>C	CCDS3420.1																																																																																				0.418	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			11	52	0	0	0	0	11	52				
INTS12	57117	broad.mit.edu	37	4	106621142	106621142	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr4:106621142C>A	ENST00000451321.2	-	2	500	c.21G>T	c.(19-21)ttG>ttT	p.L7F	INTS12_ENST00000394735.1_Missense_Mutation_p.L7F|INTS12_ENST00000340139.5_Missense_Mutation_p.L7F	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	7					snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GATCAAGTTCCAAGTTCACAG	0.358																																						uc003hxw.2		NA																	0					0						c.(19-21)TTG>TTT		integrator complex subunit 12							104.0	113.0	110.0					4																	106621142		2203	4300	6503	SO:0001583	missense	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106621142C>A		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.21G>T	4.37:g.106621142C>A	ENSP00000415433:p.Leu7Phe					INTS12_uc010ilr.2_Missense_Mutation_p.L7F	p.L7F	NM_020395	NP_065128	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	3	279	-			7					B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	c.21G>T	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146109	0.37923	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321;ENST00000503746;ENST00000420368;ENST00000416543;ENST00000433009;ENST00000510876;ENST00000515819	T;T;T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.9	5.9	0.94986	.	0.274675	0.36444	N	0.002594	T	0.71592	0.3358	L	0.36672	1.1	0.52501	D	0.999953	P	0.46706	0.883	B	0.38458	0.274	T	0.71606	-0.4542	10	0.31617	T	0.26	-5.7745	15.0444	0.71816	0.142:0.858:0.0:0.0	.	7	Q96CB8	INT12_HUMAN	F	7;7;7;7;7;7;7;20;7	ENSP00000378221:L7F;ENSP00000340737:L7F;ENSP00000415433:L7F;ENSP00000423618:L7F;ENSP00000412317:L7F;ENSP00000396309:L7F;ENSP00000396729:L7F;ENSP00000422856:L20F;ENSP00000422048:L7F	ENSP00000340737:L7F	L	-	3	2	INTS12	106840591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.764000	0.38471	2.788000	0.95919	0.650000	0.86243	TTG		0.358	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		10	168	1	0	0.000151284	0.00295811	10	168				
PCDH10	57575	broad.mit.edu	37	4	134072296	134072296	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr4:134072296G>T	ENST00000264360.5	+	1	1827	c.1001G>T	c.(1000-1002)gGc>gTc	p.G334V	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	334	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAGGACCTGGGCCCCAACGCC	0.597																																						uc003iha.2		NA																	0				ovary(2)	2						c.(1000-1002)GGC>GTC		protocadherin 10 isoform 1 precursor							103.0	94.0	97.0					4																	134072296		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072296G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1001G>T	4.37:g.134072296G>T	ENSP00000264360:p.Gly334Val					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.G334V	p.G334V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1827	+			334			Cadherin 3.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1001G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654027	0.67472	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.04502	3.61	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.000000	0.46145	D	0.000308	T	0.40956	0.1138	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69450	-0.5142	10	0.87932	D	0	.	16.6535	0.85223	0.0:0.0:1.0:0.0	.	334;334	Q9P2E7;Q96SF0	PCD10_HUMAN;.	V	334	ENSP00000264360:G334V	ENSP00000264360:G334V	G	+	2	0	PCDH10	134291746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.640000	0.98453	2.230000	0.72887	0.407000	0.27541	GGC		0.597	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		11	40	1	0	3.86e-05	0.000775281	11	40				
MTNR1A	4543	broad.mit.edu	37	4	187455231	187455231	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr4:187455231T>A	ENST00000307161.5	-	2	866	c.665A>T	c.(664-666)aAa>aTa	p.K222I	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	222					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GCGGTCAGGTTTCACCCTCTG	0.478																																						uc003izd.1		NA																	0				ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(664-666)AAA>ATA		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)						148.0	154.0	152.0					4																	187455231		2203	4300	6503	SO:0001583	missense	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455231T>A		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.665A>T	4.37:g.187455231T>A	ENSP00000302811:p.Lys222Ile						p.K222I	NM_005958	NP_005949	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	683	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	222			Cytoplasmic (Potential).		A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	c.665A>T	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.248839	0.39797	.	.	ENSG00000168412	ENST00000307161	T	0.40225	1.04	4.96	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.90309	3.105	0.53005	D	0.999965	D	0.54964	0.969	P	0.62089	0.898	T	0.67496	-0.5656	10	0.87932	D	0	-12.7177	8.7766	0.34765	0.0:0.1561:0.0:0.8439	.	222	P48039	MTR1A_HUMAN	I	222	ENSP00000302811:K222I	ENSP00000302811:K222I	K	-	2	0	MTNR1A	187692225	1.000000	0.71417	0.973000	0.42090	0.029000	0.11900	4.144000	0.58057	0.733000	0.32492	0.533000	0.62120	AAA		0.478	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			14	78	0	0	0	0	14	78				
SPEF2	79925	broad.mit.edu	37	5	35641632	35641632	+	Silent	SNP	A	A	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:35641632A>C	ENST00000356031.3	+	3	415	c.261A>C	c.(259-261)acA>acC	p.T87T	SPEF2_ENST00000509059.1_Silent_p.T87T|SPEF2_ENST00000440995.2_Silent_p.T87T|SPEF2_ENST00000282469.6_Silent_p.T87T	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	87	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCATCATCACAGAAAAGCCTG	0.438																																						uc003jjo.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(259-261)ACA>ACC		KPL2 protein isoform 1							94.0	92.0	93.0					5																	35641632		2203	4300	6503	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35641632A>C	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.261A>C	5.37:g.35641632A>C						SPEF2_uc003jjn.1_Silent_p.T87T|SPEF2_uc003jjq.3_Silent_p.T87T	p.T87T	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	372	+	all_lung(31;7.56e-05)		87			CH.		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.261A>C	CCDS43309.1																																																																																				0.438	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		10	83	0	0	0	0	10	83				
LMBRD2	92255	broad.mit.edu	37	5	36141228	36141228	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:36141228T>C	ENST00000296603.4	-	4	811	c.349A>G	c.(349-351)Acg>Gcg	p.T117A		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	117						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATTGTGACGTCCAATACACT	0.313																																						uc003jkb.1		NA																	0					0						c.(349-351)ACG>GCG		LMBR1 domain containing 2							87.0	82.0	84.0					5																	36141228		2203	4300	6503	SO:0001583	missense	92255					integral to membrane		g.chr5:36141228T>C		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.349A>G	5.37:g.36141228T>C	ENSP00000296603:p.Thr117Ala						p.T117A	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	764	-	all_lung(31;0.000146)		117			Helical; (Potential).		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.349A>G	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.831096	0.91036	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.28666	1.6	5.56	5.56	0.83823	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	M	0.77313	2.365	0.80722	D	1	D	0.57899	0.981	P	0.58077	0.832	T	0.48514	-0.9029	10	0.19147	T	0.46	-14.7528	15.7155	0.77663	0.0:0.0:0.0:1.0	.	117	Q68DH5	LMBD2_HUMAN	A	117;11	ENSP00000296603:T117A	ENSP00000296603:T117A	T	-	1	0	LMBRD2	36176985	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.629000	0.83207	2.100000	0.63781	0.528000	0.53228	ACG		0.313	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		30	103	0	0	0	0	30	103				
MROH2B	133558	broad.mit.edu	37	5	40999824	40999824	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:40999824T>G	ENST00000399564.4	-	40	4990	c.4540A>C	c.(4540-4542)Acc>Ccc	p.T1514P	MROH2B_ENST00000506092.2_Missense_Mutation_p.T1069P	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1514																	CAGGTGCTGGTGAAGAAGGTG	0.468																																						uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(4540-4542)ACC>CCC		HEAT repeat family member 7B2							184.0	188.0	187.0					5																	40999824		1927	4136	6063	SO:0001583	missense	133558						binding	g.chr5:40999824T>G		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4540A>C	5.37:g.40999824T>G	ENSP00000382476:p.Thr1514Pro					HEATR7B2_uc003jmi.3_Missense_Mutation_p.T1069P	p.T1514P	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			40	5030	-			1514					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.4540A>C	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	7.150	0.583530	0.13749	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.65549	-0.16;-0.16	4.84	2.46	0.29980	Armadillo-like helical (1);Armadillo-type fold (1);	0.574348	0.16801	N	0.198980	T	0.41328	0.1154	N	0.22421	0.69	0.27086	N	0.962975	P	0.34757	0.467	B	0.29176	0.099	T	0.28933	-1.0028	10	0.54805	T	0.06	.	6.154	0.20328	0.0:0.2007:0.0:0.7993	.	1514	Q7Z745	HTRB2_HUMAN	P	1069;1219;1514	ENSP00000441504:T1069P;ENSP00000382476:T1514P	ENSP00000296803:T1219P	T	-	1	0	HEATR7B2	41035581	0.918000	0.31147	0.887000	0.34795	0.102000	0.19082	1.319000	0.33655	0.358000	0.24211	-0.250000	0.11733	ACC		0.468	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		3	63	0	0	0	0	3	63				
RNF180	285671	broad.mit.edu	37	5	63509383	63509383	+	Splice_Site	SNP	A	A	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:63509383A>T	ENST00000389100.4	+	4	303		c.e4-1		RNF180_ENST00000296615.6_Splice_Site|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180						adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		TATTACCTGTAGGCCCAGTGG	0.398																																						uc003jti.2		NA																	0					0						c.e4-2		ring finger protein 180 isoform 1							112.0	124.0	120.0					5																	63509383		2201	4299	6500	SO:0001630	splice_region_variant	285671					integral to membrane|nuclear envelope	zinc ion binding	g.chr5:63509383A>T	AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.232-1A>T	5.37:g.63509383A>T						RNF180_uc003jth.3_Splice_Site_p.A78_splice|RNF180_uc010iws.2_Intron	p.A78_splice	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN		Lung(70;0.114)	4	342	+		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)						Q0JSU3|Q495A8|Q8NBD1	Splice_Site	SNP	ENST00000389100.4	37	c.232_splice	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242137	0.58995	.	.	ENSG00000164197	ENST00000296615;ENST00000389100;ENST00000504296	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2843	0.73816	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF180	63545139	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.913000	0.87471	2.209000	0.71365	0.533000	0.62120	.		0.398	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532	Intron	28	107	0	0	0	0	28	107				
GPR98	84059	broad.mit.edu	37	5	90004696	90004696	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:90004696G>T	ENST00000405460.2	+	39	8890	c.8794G>T	c.(8794-8796)Gct>Tct	p.A2932S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2932					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTTACCATGGCTGCTTCAAC	0.343																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(8794-8796)GCT>TCT		G protein-coupled receptor 98 precursor							171.0	168.0	169.0					5																	90004696		1835	4083	5918	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90004696G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8794G>T	5.37:g.90004696G>T	ENSP00000384582:p.Ala2932Ser					GPR98_uc003kjt.2_Missense_Mutation_p.A638S|GPR98_uc003kjv.2_Missense_Mutation_p.A532S	p.A2932S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	39	8890	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2932			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.8794G>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.41|11.41	1.629171|1.629171	0.28978|0.28978	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.35605|.	1.3|.	5.44|5.44	4.57|4.57	0.56435|0.56435	.|.	0.158574|.	0.56097|.	D|.	0.000030|.	T|T	0.41282|0.41282	0.1152|0.1152	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;P|.	0.46220|.	0.397;0.874|.	B;B|.	0.39339|.	0.093;0.297|.	T|T	0.26780|0.26780	-1.0093|-1.0093	10|5	0.34782|.	T|.	0.22|.	.|.	4.7331|4.7331	0.12975|0.12975	0.2464:0.1648:0.5888:0.0|0.2464:0.1648:0.5888:0.0	.|.	2932;2932|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	S|C	2932|497	ENSP00000384582:A2932S|.	ENSP00000296619:A2932S|.	A|W	+|+	1|3	0|0	GPR98|GPR98	90040452|90040452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	2.860000|2.860000	0.48372|0.48372	1.291000|1.291000	0.44653|0.44653	0.563000|0.563000	0.77884|0.77884	GCT|TGG		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		32	52	1	0	6.06e-23	1.4e-21	32	52				
SLC22A5	6584	broad.mit.edu	37	5	131714117	131714117	+	Silent	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:131714117C>T	ENST00000245407.3	+	2	662	c.441C>T	c.(439-441)tcC>tcT	p.S147S	SLC22A5_ENST00000435065.2_Silent_p.S171S	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	147					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	TCACAATCTCCTTGTTCTTCG	0.507																																						uc003kww.3		NA																	0					0						c.(439-441)TCC>TCT		solute carrier family 22 member 5	L-Carnitine(DB00583)						320.0	315.0	317.0					5																	131714117		2203	4300	6503	SO:0001819	synonymous_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131714117C>T	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.441C>T	5.37:g.131714117C>T						SLC22A5_uc003kwx.3_Silent_p.S171S	p.S147S	NM_003060	NP_003051	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	705	+		all_cancers(142;0.0751)|Breast(839;0.198)	147			Helical; Name=2; (Potential).		A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Silent	SNP	ENST00000245407.3	37	c.441C>T	CCDS4154.1																																																																																				0.507	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		18	117	0	0	0	0	18	117				
CXXC5	51523	broad.mit.edu	37	5	139060331	139060331	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:139060331C>T	ENST00000302517.3	+	2	937	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	CXXC5_ENST00000511048.1_Missense_Mutation_p.R75C	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	75					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.R75C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCTGCGCCGCTCCCGCCC	0.647																																						uc010jfg.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(1)	1						c.(223-225)CGC>TGC		CXXC finger 5							56.0	74.0	68.0					5																	139060331		2109	4209	6318	SO:0001583	missense	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060331C>T	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.223C>T	5.37:g.139060331C>T	ENSP00000302543:p.Arg75Cys					CXXC5_uc003let.2_Missense_Mutation_p.R75C	p.R75C	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	513	+			75					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Missense_Mutation	SNP	ENST00000302517.3	37	c.223C>T	CCDS43370.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558054	0.65538	.	.	ENSG00000171604	ENST00000504944;ENST00000302517;ENST00000504844;ENST00000502336;ENST00000520967;ENST00000511048;ENST00000509238;ENST00000502716;ENST00000503511;ENST00000511457	.	.	.	5.41	3.48	0.39840	.	0.210247	0.39341	N	0.001399	T	0.35799	0.0944	N	0.19112	0.55	0.50171	D	0.999857	D	0.76494	0.999	P	0.50490	0.642	T	0.02789	-1.1110	8	.	.	.	-18.3037	7.3435	0.26650	0.2902:0.5776:0.1322:0.0	.	75	Q7LFL8	CXXC5_HUMAN	C	75	.	.	R	+	1	0	CXXC5	139040515	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	3.941000	0.56607	2.531000	0.85337	0.561000	0.74099	CGC		0.647	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		7	24	0	0	0	0	7	24				
PCDHA5	56143	broad.mit.edu	37	5	140202711	140202711	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:140202711G>A	ENST00000529859.1	+	1	1351	c.1351G>A	c.(1351-1353)Gct>Act	p.A451T	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A451T|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A451T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	451	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCTCCGGCGTT	0.667																																						uc003lhl.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1351-1353)GCT>ACT		protocadherin alpha 5 isoform 1 precursor							74.0	77.0	76.0					5																	140202711		2203	4300	6503	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202711G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1351G>A	5.37:g.140202711G>A	ENSP00000436557:p.Ala451Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A451T|PCDHA5_uc003lhj.1_Missense_Mutation_p.A451T	p.A451T	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1351	+			451			Extracellular (Potential).|Cadherin 4.		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1351G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615470	0.46631	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.61742	0.08;0.08;0.08	3.77	3.77	0.43336	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.62527	0.2435	M	0.76727	2.345	0.21579	N	0.999639	P;D;D	0.58620	0.789;0.97;0.983	P;B;B	0.44561	0.453;0.366;0.366	T	0.60772	-0.7197	9	0.54805	T	0.06	.	16.0345	0.80612	0.0:0.0:1.0:0.0	.	451;451;451	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	T	451	ENSP00000433416:A451T;ENSP00000436557:A451T;ENSP00000367366:A451T	ENSP00000367366:A451T	A	+	1	0	PCDHA5	140182895	0.000000	0.05858	0.987000	0.45799	0.802000	0.45316	0.425000	0.21346	1.817000	0.53016	0.558000	0.71614	GCT		0.667	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		11	23	0	0	0	0	11	23				
PCDHA7	56141	broad.mit.edu	37	5	140216085	140216085	+	Missense_Mutation	SNP	C	C	T	rs547705434		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:140216085C>T	ENST00000525929.1	+	1	2117	c.2117C>T	c.(2116-2118)gCg>gTg	p.A706V	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A706V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	706					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCATCTGCGCGGTGTCCAGT	0.617																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0				ovary(2)|skin(2)	4						c.(2116-2118)GCG>GTG		protocadherin alpha 7 isoform 1 precursor							120.0	101.0	108.0					5																	140216085		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140216085C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2117C>T	5.37:g.140216085C>T	ENSP00000436426:p.Ala706Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A706V	p.A706V	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2117	+			706			Helical; (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.2117C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851053	0.32699	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.17370	2.28;2.28	3.57	2.69	0.31865	.	0.301613	0.16782	U	0.199735	T	0.29524	0.0736	M	0.93763	3.455	0.22034	N	0.999404	B;B	0.32010	0.351;0.239	B;B	0.29176	0.099;0.057	T	0.24548	-1.0157	10	0.56958	D	0.05	.	10.9446	0.47294	0.0:0.9065:0.0:0.0935	.	706;706	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	706	ENSP00000436426:A706V;ENSP00000367365:A706V	ENSP00000367365:A706V	A	+	2	0	PCDHA7	140196269	0.000000	0.05858	0.928000	0.36995	0.139000	0.21198	0.277000	0.18734	0.819000	0.34492	0.462000	0.41574	GCG		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		7	19	0	0	0	0	7	19				
PCDHA7	56141	broad.mit.edu	37	5	140216146	140216146	+	Silent	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:140216146G>A	ENST00000525929.1	+	1	2178	c.2178G>A	c.(2176-2178)ccG>ccA	p.P726P	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.P726P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	726					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGCGCCGTCCTCTGAGG	0.612																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0				ovary(2)|skin(2)	4						c.(2176-2178)CCG>CCA		protocadherin alpha 7 isoform 1 precursor							89.0	77.0	81.0					5																	140216146		2203	4300	6503	SO:0001819	synonymous_variant	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140216146G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2178G>A	5.37:g.140216146G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.P726P	p.P726P	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2178	+			726			Cytoplasmic (Potential).		O75282	Silent	SNP	ENST00000525929.1	37	c.2178G>A	CCDS54918.1																																																																																				0.612	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		11	16	0	0	0	0	11	16				
PCDHA11	56138	broad.mit.edu	37	5	140250594	140250594	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:140250594C>A	ENST00000398640.2	+	1	1906	c.1906C>A	c.(1906-1908)Ctg>Atg	p.L636M	PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	636	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGCGTGCCCTGGACGAGGC	0.662																																						uc003lia.2		NA																	0				breast(1)	1						c.(1906-1908)CTG>ATG		protocadherin alpha 11 isoform 1 precursor							45.0	52.0	50.0					5																	140250594		2203	4298	6501	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250594C>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1906C>A	5.37:g.140250594C>A	ENSP00000381636:p.Leu636Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.L636M	p.L636M	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2764	+			636			Extracellular (Potential).|Cadherin 6.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1906C>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	3.496	-0.102835	0.06967	.	.	ENSG00000249158	ENST00000398640	T	0.74842	-0.88	4.78	2.95	0.34219	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83275	0.5219	M	0.85373	2.75	0.09310	N	1	D;D	0.61697	0.987;0.99	P;D	0.63957	0.841;0.92	T	0.70956	-0.4731	9	0.51188	T	0.08	.	5.0887	0.14696	0.1446:0.6154:0.0:0.24	.	636;636	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	M	636	ENSP00000381636:L636M	ENSP00000381636:L636M	L	+	1	2	PCDHA11	140230778	0.000000	0.05858	0.913000	0.36048	0.044000	0.14063	-0.296000	0.08287	0.416000	0.25844	0.556000	0.70494	CTG		0.662	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		6	23	1	0	3.6e-05	0.000728797	6	23				
PCDHB11	56125	broad.mit.edu	37	5	140579439	140579439	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:140579439G>A	ENST00000354757.3	+	1	92	c.92G>A	c.(91-93)tGg>tAg	p.W31*	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	31					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGAAACCTGGAGCTTTTCT	0.527																																						uc003liy.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(91-93)TGG>TAG		protocadherin beta 11 precursor							82.0	89.0	87.0					5																	140579439		2203	4300	6503	SO:0001587	stop_gained	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579439G>A	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.92G>A	5.37:g.140579439G>A	ENSP00000346802:p.Trp31*					PCDHB11_uc011daj.1_Intron	p.W31*	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	92	+			31			Extracellular (Potential).		B4DSF7|Q2M223	Nonsense_Mutation	SNP	ENST00000354757.3	37	c.92G>A	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720355	0.30503	.	.	ENSG00000197479	ENST00000354757	.	.	.	2.79	1.84	0.25277	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	8.9611	0.35847	0.0:0.0:0.3629:0.6371	.	.	.	.	X	31	.	ENSP00000346802:W31X	W	+	2	0	PCDHB11	140559623	0.039000	0.19947	0.001000	0.08648	0.004000	0.04260	1.741000	0.38238	0.426000	0.26116	0.460000	0.39030	TGG		0.527	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		7	29	0	0	0	0	7	29				
PCDHGA4	56111	broad.mit.edu	37	5	140735676	140735676	+	Silent	SNP	A	A	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:140735676A>T	ENST00000571252.1	+	1	909	c.909A>T	c.(907-909)atA>atT	p.I303I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATAACAATATTGGGGGGTC	0.443																																						uc003ljq.1		NA																	0					0						c.(907-909)ATA>ATT		protocadherin gamma subfamily A, 4 isoform 1							48.0	49.0	48.0					5																	140735676		1846	4091	5937	SO:0001819	synonymous_variant	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140735676A>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.909A>T	5.37:g.140735676A>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.I303I	p.I303I	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	909	+			303			Cadherin 3.|Extracellular (Potential).		Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.909A>T	CCDS58979.1																																																																																				0.443	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		5	18	0	0	0	0	5	18				
PCDHGB6	56100	broad.mit.edu	37	5	140788007	140788007	+	Missense_Mutation	SNP	G	G	C	rs574019995	byFrequency	TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:140788007G>C	ENST00000520790.1	+	1	238	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTAGACGCGGAGAGCGGGGA	0.537													.|||	2	0.000399361	0.0	0.0	5008	,	,		16266	0.002		0.0	False		,,,				2504	0.0					uc003lkj.1		NA																	0					0						c.(238-240)GAG>CAG		protocadherin gamma subfamily B, 6 isoform 1							133.0	139.0	137.0					5																	140788007		1960	4149	6109	SO:0001583	missense	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140788007G>C	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.238G>C	5.37:g.140788007G>C	ENSP00000428603:p.Glu80Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.E80Q	p.E80Q	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	238	+			80			Extracellular (Potential).|Cadherin 1.		Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.238G>C	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	c	12.18	1.861847	0.32884	.	.	ENSG00000253305	ENST00000520790	T	0.28255	1.62	5.38	3.58	0.41010	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.27697	0.0681	L	0.46157	1.445	0.09310	N	1	B;B	0.34161	0.167;0.439	B;B	0.35727	0.168;0.209	T	0.12915	-1.0529	9	0.39692	T	0.17	.	8.7887	0.34837	0.1138:0.2693:0.6169:0.0	.	80;80	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	Q	80	ENSP00000428603:E80Q	ENSP00000428603:E80Q	E	+	1	0	PCDHGB6	140768191	0.000000	0.05858	0.978000	0.43139	0.932000	0.56968	0.698000	0.25571	0.633000	0.30452	-0.354000	0.07668	GAG		0.537	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		18	34	0	0	0	0	18	34				
STK32A	202374	broad.mit.edu	37	5	146752790	146752790	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:146752790C>A	ENST00000397936.3	+	10	1169	c.836C>A	c.(835-837)cCg>cAg	p.P279Q	STK32A_ENST00000398523.3_Missense_Mutation_p.P279Q	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.P279Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAACTTCCCGTATATGAAT	0.398																																						uc010jgn.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(835-837)CCG>CAG		serine/threonine kinase 32A isoform 1							166.0	154.0	158.0					5																	146752790		1568	3582	5150	SO:0001583	missense	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146752790C>A		CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.836C>A	5.37:g.146752790C>A	ENSP00000381030:p.Pro279Gln					STK32A_uc003lom.2_Missense_Mutation_p.P279Q|STK32A_uc011dbw.1_Missense_Mutation_p.P279Q	p.P279Q	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1116	+			279			Protein kinase.		B3KSY0	Missense_Mutation	SNP	ENST00000397936.3	37	c.836C>A	CCDS47299.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653447	0.67472	.	.	ENSG00000169302	ENST00000397936;ENST00000398523	T;T	0.31247	1.5;1.5	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.170944	0.28187	N	0.016272	T	0.55924	0.1951	M	0.77313	2.365	0.80722	D	1	D;D;P	0.58620	0.983;0.961;0.861	P;P;P	0.60117	0.869;0.593;0.533	T	0.58803	-0.7572	10	0.72032	D	0.01	.	18.5479	0.91054	0.0:1.0:0.0:0.0	.	279;279;279	B7Z9H7;Q8WU08;Q8WU08-3	.;ST32A_HUMAN;.	Q	279	ENSP00000381030:P279Q;ENSP00000381535:P279Q	ENSP00000381030:P279Q	P	+	2	0	STK32A	146732983	1.000000	0.71417	0.960000	0.40013	0.482000	0.33219	5.407000	0.66363	2.676000	0.91093	0.591000	0.81541	CCG		0.398	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001		7	90	1	0	0.000157383	0.0030423	7	90				
LARP1	23367	broad.mit.edu	37	5	154179306	154179306	+	Silent	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:154179306C>T	ENST00000336314.4	+	9	1326	c.1302C>T	c.(1300-1302)taC>taT	p.Y434Y		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	511	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTCAGCACTACCAAAAGGAGA	0.527																																						uc003lvp.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1531-1533)TAC>TAT		la related protein isoform 2							141.0	140.0	141.0					5																	154179306		2203	4300	6503	SO:0001819	synonymous_variant	23367						protein binding|RNA binding	g.chr5:154179306C>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1302C>T	5.37:g.154179306C>T						LARP1_uc003lvo.2_Silent_p.Y434Y|LARP1_uc010jie.1_Silent_p.Y306Y	p.Y511Y	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		9	1962	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	511					O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	ENST00000336314.4	37	c.1533C>T	CCDS4328.1																																																																																				0.527	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		18	26	0	0	0	0	18	26				
KIF4B	285643	broad.mit.edu	37	5	154394225	154394225	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:154394225G>A	ENST00000435029.4	+	1	966	c.806G>A	c.(805-807)tGc>tAc	p.C269Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	269	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCCTCCTATGCTTGGGAAAT	0.443																																						uc010jih.1		NA																	0				ovary(1)	1						c.(805-807)TGC>TAC		kinesin family member 4B							148.0	149.0	148.0					5																	154394225		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394225G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.806G>A	5.37:g.154394225G>A	ENSP00000387875:p.Cys269Tyr						p.C269Y	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	966	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	269			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.806G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	11.19	1.566760	0.28003	.	.	ENSG00000226650	ENST00000435029	T	0.74737	-0.87	1.48	1.48	0.22813	Kinesin, motor domain (3);	.	.	.	.	T	0.67776	0.2929	N	0.13327	0.33	0.40094	D	0.976295	D	0.57571	0.98	P	0.60236	0.871	T	0.68750	-0.5326	9	0.87932	D	0	.	6.3773	0.21515	0.0:0.0:1.0:0.0	.	269	Q2VIQ3	KIF4B_HUMAN	Y	269	ENSP00000387875:C269Y	ENSP00000387875:C269Y	C	+	2	0	KIF4B	154374418	0.929000	0.31497	0.999000	0.59377	0.793000	0.44817	1.416000	0.34759	1.138000	0.42230	0.563000	0.77884	TGC		0.443	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			15	58	0	0	0	0	15	58				
HAVCR1	26762	broad.mit.edu	37	5	156469687	156469687	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:156469687T>C	ENST00000339252.3	-	5	1320	c.788A>G	c.(787-789)aAt>aGt	p.N263S	HAVCR1_ENST00000522693.1_Missense_Mutation_p.N263S|HAVCR1_ENST00000544197.1_Missense_Mutation_p.N263S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.N263S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.N263S|HAVCR1_ENST00000517644.1_5'UTR	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	258					viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACGGTGTCATTCCCATCTAC	0.353																																						uc010jij.1		NA																	0				ovary(1)|skin(1)	2						c.(787-789)AAT>AGT		hepatitis A virus cellular receptor 1							126.0	121.0	123.0					5																	156469687		1839	4087	5926	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156469687T>C	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.788A>G	5.37:g.156469687T>C	ENSP00000344844:p.Asn263Ser					HAVCR1_uc011ddl.1_Missense_Mutation_p.N94S|HAVCR1_uc003lwi.2_Missense_Mutation_p.N263S	p.N263S	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	973	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	258			Extracellular (Potential).		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.788A>G	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	T	8.056	0.767139	0.15983	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197	T;T;T;T;T	0.23348	1.91;2.2;2.2;1.91;2.2	3.71	2.54	0.30619	.	1.677110	0.03292	N	0.187761	T	0.13200	0.0320	N	0.12182	0.205	0.20196	N	0.999925	B;B;B	0.32031	0.226;0.352;0.352	B;B;B	0.27170	0.053;0.077;0.077	T	0.18967	-1.0320	10	0.02654	T	1	-17.2359	8.1394	0.31073	0.0:0.1054:0.0:0.8946	.	263;258;258	E9PFX0;F1CME6;Q96D42	.;.;HAVR1_HUMAN	S	263	ENSP00000428524:N263S;ENSP00000427898:N263S;ENSP00000344844:N263S;ENSP00000403333:N263S;ENSP00000440258:N263S	ENSP00000344844:N263S	N	-	2	0	HAVCR1	156402265	0.984000	0.35163	0.830000	0.32933	0.785000	0.44390	1.639000	0.37176	0.276000	0.22118	-1.139000	0.01908	AAT		0.353	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			16	83	0	0	0	0	16	83				
UBTD2	92181	broad.mit.edu	37	5	171639129	171639129	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:171639129T>C	ENST00000393792.2	-	3	815	c.410A>G	c.(409-411)gAg>gGg	p.E137G		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	137						cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATCCAGAGTCTCTATGTCGCT	0.488																																						uc003mbp.1		NA																	0					0						c.(409-411)GAG>GGG		dendritic cell-derived ubiquitin-like protein							158.0	145.0	149.0					5																	171639129		2203	4300	6503	SO:0001583	missense	92181					cytoplasm		g.chr5:171639129T>C	AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"""dendritic cell derived ubiquitin like protein"""	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.410A>G	5.37:g.171639129T>C	ENSP00000377381:p.Glu137Gly						p.E137G	NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	536	-	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	137					Q8TDQ3	Missense_Mutation	SNP	ENST00000393792.2	37	c.410A>G	CCDS4379.2	.	.	.	.	.	.	.	.	.	.	T	16.01	3.000769	0.54254	.	.	ENSG00000168246	ENST00000393792	T	0.48836	0.8	5.96	5.96	0.96718	.	0.044079	0.85682	D	0.000000	T	0.43100	0.1232	L	0.47716	1.5	0.58432	D	0.999999	B	0.06786	0.001	B	0.12837	0.008	T	0.22800	-1.0206	10	0.34782	T	0.22	.	14.4005	0.67041	0.0:0.0:0.0:1.0	.	137	Q8WUN7	UBTD2_HUMAN	G	137	ENSP00000377381:E137G	ENSP00000377381:E137G	E	-	2	0	UBTD2	171571734	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.732000	0.55021	2.285000	0.76669	0.533000	0.62120	GAG		0.488	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252936.1	NM_152277		32	29	0	0	0	0	32	29				
NKAPL	222698	broad.mit.edu	37	6	28227756	28227756	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr6:28227756G>C	ENST00000343684.3	+	1	659	c.607G>C	c.(607-609)Gat>Cat	p.D203H	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	203	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAAATATTCTGATAGTGACAG	0.333																																						uc003nkt.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(607-609)GAT>CAT		NFKB activating protein-like							33.0	39.0	37.0					6																	28227756		2186	4295	6481	SO:0001583	missense	222698							g.chr6:28227756G>C	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.607G>C	6.37:g.28227756G>C	ENSP00000345716:p.Asp203His					ZKSCAN4_uc011dlb.1_5'Flank	p.D203H	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			1	659	+			203			Lys-rich.		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.607G>C	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	G	0.397	-0.920442	0.02396	.	.	ENSG00000189134	ENST00000343684	T	0.12774	2.65	3.9	2.1	0.27182	.	0.390162	0.29266	N	0.012650	T	0.03348	0.0097	L	0.42245	1.32	0.09310	N	1	P	0.44309	0.832	B	0.37198	0.243	T	0.37079	-0.9721	10	0.38643	T	0.18	.	6.3544	0.21393	0.2316:0.0:0.7684:0.0	.	203	Q5M9Q1	NKAPL_HUMAN	H	203	ENSP00000345716:D203H	ENSP00000345716:D203H	D	+	1	0	NKAPL	28335735	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	1.104000	0.31074	0.423000	0.26033	-0.251000	0.11542	GAT		0.333	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			19	51	0	0	0	0	19	51				
CEP85L	387119	broad.mit.edu	37	6	118790380	118790380	+	Silent	SNP	T	T	C	rs77465615		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr6:118790380T>C	ENST00000368491.3	-	12	2730	c.2109A>G	c.(2107-2109)aaA>aaG	p.K703K	CEP85L_ENST00000368488.5_Silent_p.K706K	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	703						centrosome (GO:0005813)|cytoplasm (GO:0005737)											ATAGTGGCCGTTTGGAAAGAA	0.418																																						uc003pxz.1		NA																	0				breast(1)	1						c.(2107-2109)AAA>AAG		chromosome 6 open reading frame 204 isoform a							170.0	160.0	163.0					6																	118790380		1905	4135	6040	SO:0001819	synonymous_variant	387119					centrosome		g.chr6:118790380T>C	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2109A>G	6.37:g.118790380T>C							p.K703K	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	12	2697	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	703					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	ENST00000368491.3	37	c.2109A>G	CCDS43498.1																																																																																				0.418	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		30	99	0	0	0	0	30	99				
STXBP5	134957	broad.mit.edu	37	6	147694921	147694921	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr6:147694921G>A	ENST00000321680.6	+	26	3136	c.3136G>A	c.(3136-3138)Gga>Aga	p.G1046R	STXBP5_ENST00000367480.3_Missense_Mutation_p.G993R|STXBP5_ENST00000179882.6_Missense_Mutation_p.G701R|STXBP5_ENST00000367481.3_Missense_Mutation_p.G1010R	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1046					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ACCAAACAGGGGATTCTTTAA	0.348																																						uc003qlz.2		NA																	0					0						c.(3136-3138)GGA>AGA		syntaxin binding protein 5 (tomosyn) isoform b							110.0	111.0	111.0					6																	147694921		2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147694921G>A	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.3136G>A	6.37:g.147694921G>A	ENSP00000321826:p.Gly1046Arg					STXBP5_uc010khz.1_Missense_Mutation_p.G1010R|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.G701R	p.G1046R	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	26	3297	+		Ovarian(120;0.0164)	1046					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.3136G>A	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017322	0.93404	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.17691	2.4;2.26;2.52;2.91	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	M	0.82323	2.585	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	T	0.14172	-1.0482	10	0.39692	T	0.17	.	19.8494	0.96733	0.0:0.0:1.0:0.0	.	1010;1046;701	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	R	1010;1046;993;701	ENSP00000356451:G1010R;ENSP00000321826:G1046R;ENSP00000356450:G993R;ENSP00000179882:G701R	ENSP00000179882:G701R	G	+	1	0	STXBP5	147736614	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.705000	0.92388	0.585000	0.79938	GGA		0.348	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			6	65	0	0	0	0	6	65				
TFB1M	51106	broad.mit.edu	37	6	155632378	155632378	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr6:155632378C>A	ENST00000367166.4	-	2	284	c.229G>T	c.(229-231)Gac>Tac	p.D77Y	TFB1M_ENST00000480390.1_5'UTR	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	77					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TCAGCGACGTCGGCATTAAGA	0.438																																						uc003qqj.3		NA																	0				skin(1)	1						c.(229-231)GAC>TAC		transcription factor B1, mitochondrial							124.0	114.0	118.0					6																	155632378		2203	4300	6503	SO:0001583	missense	51106				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr6:155632378C>A	AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.229G>T	6.37:g.155632378C>A	ENSP00000356134:p.Asp77Tyr					TFB1M_uc003qqk.2_Intron	p.D77Y	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)	2	293	-		Ovarian(120;0.196)	77					Q05DR0|Q9Y384	Missense_Mutation	SNP	ENST00000367166.4	37	c.229G>T	CCDS5248.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033273	0.35893	.	.	ENSG00000029639	ENST00000367166	T	0.30448	1.53	5.96	-11.0	0.00169	Ribosomal RNA adenine methylase transferase, conserved site (1);Ribosomal RNA adenine methylase transferase, N-terminal (1);	0.733086	0.13970	N	0.350221	T	0.06962	0.0177	N	0.17631	0.505	0.09310	N	1	B	0.32573	0.376	B	0.37239	0.244	T	0.42649	-0.9439	10	0.72032	D	0.01	-0.0916	11.5012	0.50439	0.0:0.6677:0.1785:0.1539	.	77	Q8WVM0	TFB1M_HUMAN	Y	77	ENSP00000356134:D77Y	ENSP00000356134:D77Y	D	-	1	0	TFB1M	155674070	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-0.059000	0.11731	-1.124000	0.02936	-0.290000	0.09829	GAC		0.438	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1			22	61	1	0	1.97e-08	4.41e-07	22	61				
RBAK	57786	broad.mit.edu	37	7	5103754	5103754	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:5103754C>G	ENST00000353796.3	+	6	991	c.667C>G	c.(667-669)Cat>Gat	p.H223D	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.H223D|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	223	Required for interaction with RB1.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TTTTATTGCTCATAAGAGAGC	0.348																																						uc010kss.1		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(667-669)CAT>GAT		RB-associated KRAB repressor							42.0	44.0	43.0					7																	5103754		2203	4300	6503	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5103754C>G	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.667C>G	7.37:g.5103754C>G	ENSP00000275423:p.His223Asp					LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.H223D	p.H223D	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	991	+		Ovarian(82;0.0175)	223			Required for interaction with RB1.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.667C>G	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	C	6.673	0.492747	0.12702	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.08807	3.05;3.05	3.67	2.78	0.32641	.	0.489617	0.17558	N	0.169926	T	0.19327	0.0464	H	0.96365	3.81	0.26919	N	0.96672	P	0.37466	0.596	B	0.34991	0.193	T	0.37407	-0.9707	8	.	.	.	.	9.1919	0.37204	0.0:0.8877:0.0:0.1123	.	223	Q9NYW8	RBAK_HUMAN	D	223	ENSP00000275423:H223D;ENSP00000380120:H223D	.	H	+	1	0	RBAK	5070280	0.940000	0.31905	0.018000	0.16275	0.048000	0.14542	4.209000	0.58493	1.117000	0.41842	0.484000	0.47621	CAT		0.348	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		12	45	0	0	0	0	12	45				
HDAC9	9734	broad.mit.edu	37	7	18687544	18687544	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:18687544C>T	ENST00000432645.2	+	9	1163	c.1163C>T	c.(1162-1164)cCc>cTc	p.P388L	HDAC9_ENST00000405010.3_Missense_Mutation_p.P388L|HDAC9_ENST00000401921.1_Missense_Mutation_p.P347L|HDAC9_ENST00000406451.4_Missense_Mutation_p.P388L|HDAC9_ENST00000428307.2_Missense_Mutation_p.P344L|HDAC9_ENST00000441542.2_Missense_Mutation_p.P391L|HDAC9_ENST00000417496.2_Missense_Mutation_p.P386L|HDAC9_ENST00000524023.1_Missense_Mutation_p.P311L|HDAC9_ENST00000456174.2_Missense_Mutation_p.P360L|HDAC9_ENST00000406072.1_Missense_Mutation_p.P375L	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	388					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGAAAGCCACCCAACAGCAGC	0.502																																						uc003suh.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1162-1164)CCC>CTC		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						38.0	39.0	39.0					7																	18687544		2035	4196	6231	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18687544C>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1163C>T	7.37:g.18687544C>T	ENSP00000410337:p.Pro388Leu					HDAC9_uc003sue.2_Missense_Mutation_p.P388L|HDAC9_uc011jyd.1_Missense_Mutation_p.P388L|HDAC9_uc003sui.2_Missense_Mutation_p.P391L|HDAC9_uc003suj.2_Missense_Mutation_p.P347L|HDAC9_uc011jya.1_Missense_Mutation_p.P385L|HDAC9_uc003sua.1_Missense_Mutation_p.P366L|HDAC9_uc011jyb.1_Missense_Mutation_p.P344L|HDAC9_uc003sud.1_Missense_Mutation_p.P388L|HDAC9_uc011jyc.1_Missense_Mutation_p.P347L|HDAC9_uc003suf.1_Missense_Mutation_p.P419L|HDAC9_uc010kud.1_Missense_Mutation_p.P391L|HDAC9_uc011jye.1_Missense_Mutation_p.P360L|HDAC9_uc011jyf.1_Missense_Mutation_p.P311L|HDAC9_uc010kue.1_Missense_Mutation_p.P131L	p.P388L	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			9	1204	+	all_lung(11;0.187)		388					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1163C>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938456	0.52972	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.58358	0.89;0.91;0.35;0.9;0.89;0.34;0.35;0.35;0.91;0.91	5.64	4.76	0.60689	.	0.494920	0.18096	N	0.151853	T	0.61776	0.2374	L	0.50333	1.59	0.33866	D	0.634363	B;B;B;B;B;P;B;P;B;B;B;B;B;D	0.63880	0.131;0.012;0.206;0.384;0.131;0.879;0.1;0.95;0.277;0.049;0.03;0.277;0.073;0.993	B;B;B;B;B;B;B;P;B;B;B;B;B;P	0.56343	0.039;0.014;0.124;0.088;0.039;0.37;0.024;0.625;0.074;0.022;0.014;0.074;0.053;0.796	T	0.72204	-0.4361	10	0.49607	T	0.09	.	14.5197	0.67842	0.0:0.9295:0.0:0.0705	.	311;360;388;375;386;388;391;347;391;388;360;388;388;366	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	L	386;389;388;388;344;375;347;388;391;360;311;388	ENSP00000401669:P386L;ENSP00000384382:P388L;ENSP00000384657:P388L;ENSP00000395655:P344L;ENSP00000384017:P375L;ENSP00000383912:P347L;ENSP00000410337:P388L;ENSP00000408617:P391L;ENSP00000388568:P360L;ENSP00000430036:P311L	ENSP00000262069:P389L	P	+	2	0	HDAC9	18654069	1.000000	0.71417	0.992000	0.48379	0.451000	0.32288	3.277000	0.51654	1.399000	0.46721	-0.237000	0.12165	CCC		0.502	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			4	8	0	0	0	0	4	8				
NUPL2	11097	broad.mit.edu	37	7	23240136	23240136	+	Silent	SNP	G	G	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:23240136G>C	ENST00000258742.5	+	7	1303	c.1044G>C	c.(1042-1044)ccG>ccC	p.P348P		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	348	Ser-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGGTAGTCCGGGCTCACATT	0.507																																						uc003svu.2		NA																	0				skin(2)|ovary(1)	3						c.(1042-1044)CCG>CCC		nucleoporin like 2							110.0	105.0	107.0					7																	23240136		2203	4300	6503	SO:0001819	synonymous_variant	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23240136G>C	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.1044G>C	7.37:g.23240136G>C						NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Silent_p.P225P|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_Silent_p.P225P|NUPL2_uc011jyx.1_Silent_p.P120P	p.P348P	NM_007342	NP_031368	O15504	NUPL2_HUMAN			7	1303	+			348			Ser-rich.		A4D143|B4DP42|Q49AE7|Q9BS49	Silent	SNP	ENST00000258742.5	37	c.1044G>C	CCDS5379.1																																																																																				0.507	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		4	95	0	0	0	0	4	95				
SCRN1	9805	broad.mit.edu	37	7	29983623	29983623	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:29983623C>G	ENST00000426154.1	-	4	690	c.514G>C	c.(514-516)Ggg>Cgg	p.G172R	SCRN1_ENST00000434476.2_Missense_Mutation_p.G192R|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172R|SCRN1_ENST00000425819.2_Missense_Mutation_p.G104R|SCRN1_ENST00000494620.1_5'Flank|SCRN1_ENST00000416113.2_Missense_Mutation_p.G63R|SCRN1_ENST00000409497.1_Missense_Mutation_p.G172R	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	172					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CAGTACTTCCCTATGGTCTCG	0.527																																						uc010kvp.2		NA																	0				ovary(2)	2						c.(514-516)GGG>CGG		secernin 1 isoform c							159.0	132.0	141.0					7																	29983623		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29983623C>G	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.514G>C	7.37:g.29983623C>G	ENSP00000409068:p.Gly172Arg					SCRN1_uc011jzy.1_Missense_Mutation_p.G104R|SCRN1_uc003tak.2_Missense_Mutation_p.G172R|SCRN1_uc011jzz.1_Missense_Mutation_p.G172R|SCRN1_uc011kaa.1_Missense_Mutation_p.G192R|SCRN1_uc011jzw.1_Missense_Mutation_p.G104R|SCRN1_uc011jzx.1_Intron	p.G172R	NM_001145515	NP_001138987	Q12765	SCRN1_HUMAN			3	718	-			172					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.514G>C	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063736	0.93898	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000416113;ENST00000434476;ENST00000421434	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;2.2;-0.12;-0.12	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	D	0.86477	0.5942	H	0.96430	3.82	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.90095	0.4180	9	.	.	.	-16.4932	18.6916	0.91585	0.0:1.0:0.0:0.0	.	192;104;172	C9JPG0;B4DIP5;Q12765	.;.;SCRN1_HUMAN	R	172;172;104;172;63;192;172	ENSP00000242059:G172R;ENSP00000409068:G172R;ENSP00000414245:G104R;ENSP00000386872:G172R;ENSP00000407460:G63R;ENSP00000388942:G192R;ENSP00000413184:G172R	.	G	-	1	0	SCRN1	29950148	1.000000	0.71417	0.965000	0.40720	0.812000	0.45895	7.818000	0.86416	2.768000	0.95171	0.561000	0.74099	GGG		0.527	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		7	45	0	0	0	0	7	45				
YWHAG	7532	broad.mit.edu	37	7	75958917	75958917	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:75958917C>T	ENST00000307630.3	-	2	943	c.721G>A	c.(721-723)Gat>Aat	p.D241N		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	241					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						TCGCCGCCATCGTCGTCCTGC	0.587																																						uc011kgj.1		NA																	0				ovary(1)|lung(1)	2						c.(721-723)GAT>AAT		tyrosine 3-monooxygenase/tryptophan							58.0	47.0	51.0					7																	75958917		2203	4300	6503	SO:0001583	missense	7532				G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity	g.chr7:75958917C>T	AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"""14-3-3 gamma"", ""protein phosphatase 1, regulatory subunit 170"""	605356	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"""			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.721G>A	7.37:g.75958917C>T	ENSP00000306330:p.Asp241Asn						p.D241N	NM_012479	NP_036611	P61981	1433G_HUMAN			2	938	-			241					O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Missense_Mutation	SNP	ENST00000307630.3	37	c.721G>A	CCDS5584.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449203	0.63178	.	.	ENSG00000170027	ENST00000307630;ENST00000536755;ENST00000453207	T	0.47528	0.84	5.56	5.56	0.83823	14-3-3 domain (1);	0.146906	0.64402	D	0.000011	T	0.34135	0.0887	N	0.19112	0.55	0.80722	D	1	B	0.33807	0.426	B	0.28139	0.086	T	0.09185	-1.0686	10	0.30854	T	0.27	-22.3542	18.7066	0.91641	0.0:1.0:0.0:0.0	.	241	P61981	1433G_HUMAN	N	241;219;201	ENSP00000306330:D241N	ENSP00000306330:D241N	D	-	1	0	YWHAG	75796853	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.616000	0.83018	2.899000	0.99337	0.655000	0.94253	GAT		0.587	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253002.1	NM_012479		8	8	0	0	0	0	8	8				
SEMA3E	9723	broad.mit.edu	37	7	83035320	83035320	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:83035320G>C	ENST00000307792.3	-	8	1336	c.869C>G	c.(868-870)gCg>gGg	p.A290G	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A230G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	290	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AACGAGTCTCGCTTTTAGGAA	0.348																																						uc003uhy.1		NA																	0				ovary(3)	3						c.(868-870)GCG>GGG		semaphorin 3E precursor							176.0	161.0	166.0					7																	83035320		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83035320G>C	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.869C>G	7.37:g.83035320G>C	ENSP00000303212:p.Ala290Gly						p.A290G	NM_012431	NP_036563	O15041	SEM3E_HUMAN			8	1335	-		Medulloblastoma(109;0.109)	290			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.869C>G	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474844	0.84640	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.30714	1.52;1.52	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.054675	0.64402	D	0.000001	T	0.68026	0.2956	M	0.94142	3.5	0.37026	D	0.896442	D	0.54047	0.964	D	0.66351	0.943	T	0.80002	-0.1565	10	0.87932	D	0	.	19.68	0.95958	0.0:0.0:1.0:0.0	.	290	O15041	SEM3E_HUMAN	G	290;230;290	ENSP00000303212:A290G;ENSP00000405052:A230G	ENSP00000303212:A290G	A	-	2	0	SEMA3E	82873256	1.000000	0.71417	0.915000	0.36163	0.852000	0.48524	7.977000	0.88081	2.641000	0.89580	0.650000	0.86243	GCG		0.348	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		6	154	0	0	0	0	6	154				
ABCB4	5244	broad.mit.edu	37	7	87069700	87069700	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:87069700C>A	ENST00000265723.4	-	13	1486	c.1375G>T	c.(1375-1377)Gat>Tat	p.D459Y	ABCB4_ENST00000359206.3_Missense_Mutation_p.D459Y|ABCB4_ENST00000358400.3_Missense_Mutation_p.D459Y|ABCB4_ENST00000545634.1_Missense_Mutation_p.D459Y|ABCB4_ENST00000453593.1_Missense_Mutation_p.D459Y	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	459	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTCCTAATATCCTGCCCATCA	0.348																																						uc003uiv.1		NA																	0				ovary(4)|skin(1)|pancreas(1)	6						c.(1375-1377)GAT>TAT		ATP-binding cassette, subfamily B, member 4							69.0	71.0	71.0					7																	87069700		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87069700C>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1375G>T	7.37:g.87069700C>A	ENSP00000265723:p.Asp459Tyr					ABCB4_uc003uiw.1_Missense_Mutation_p.D459Y|ABCB4_uc003uix.1_Missense_Mutation_p.D459Y	p.D459Y	NM_018849	NP_061337	P21439	MDR3_HUMAN			13	1451	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		459			ABC transporter 1.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1375G>T	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442955	0.83993	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96	5.51	5.51	0.81932	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97167	0.9074	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.985;0.986;0.992	D	0.97833	1.0264	10	0.87932	D	0	-18.2478	19.419	0.94713	0.0:1.0:0.0:0.0	.	459;459;459	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	Y	459	ENSP00000352135:D459Y;ENSP00000351172:D459Y;ENSP00000265723:D459Y;ENSP00000392983:D459Y;ENSP00000437465:D459Y	ENSP00000265723:D459Y	D	-	1	0	ABCB4	86907636	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.814000	0.86154	2.561000	0.86390	0.650000	0.86243	GAT		0.348	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		9	46	1	0	5.69e-11	1.28e-09	9	46				
MUC17	140453	broad.mit.edu	37	7	100681270	100681270	+	Silent	SNP	T	T	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:100681270T>C	ENST00000306151.4	+	3	6637	c.6573T>C	c.(6571-6573)ccT>ccC	p.P2191P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2191	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGCACACCTGTGACCAATT	0.483																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(6571-6573)CCT>CCC		mucin 17 precursor							276.0	280.0	278.0					7																	100681270		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681270T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6573T>C	7.37:g.100681270T>C						MUC17_uc010lho.1_RNA	p.P2191P	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	6626	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2191			Extracellular (Potential).|35.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6573T>C	CCDS34711.1																																																																																				0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		21	192	0	0	0	0	21	192				
LRRC17	10234	broad.mit.edu	37	7	102574878	102574878	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:102574878C>T	ENST00000339431.4	+	2	813	c.518C>T	c.(517-519)aCg>aTg	p.T173M	LRRC17_ENST00000249377.4_Missense_Mutation_p.T173M|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	173	LRRCT 1.				bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAGATAGAAACGCTTATTTCA	0.433																																						uc003vau.2		NA																	0				ovary(1)	1						c.(517-519)ACG>ATG		leucine rich repeat containing 17 isoform 1							132.0	132.0	132.0					7																	102574878		2203	4300	6503	SO:0001583	missense	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102574878C>T	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.518C>T	7.37:g.102574878C>T	ENSP00000344242:p.Thr173Met					FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Missense_Mutation_p.T173M	p.T173M	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN			2	907	+			173			LRRCT 1.		Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	c.518C>T	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325609	0.60743	.	.	ENSG00000128606	ENST00000339431;ENST00000249377	T;D	0.90004	3.6;-2.6	5.41	4.53	0.55603	Cysteine-rich flanking region, C-terminal (1);	0.104529	0.42172	D	0.000741	D	0.92264	0.7546	L	0.60455	1.87	0.39772	D	0.972179	D;D	0.89917	1.0;1.0	P;D	0.63703	0.828;0.917	D	0.93515	0.6856	10	0.87932	D	0	-8.3164	14.4103	0.67111	0.0:0.9287:0.0:0.0713	.	173;173	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	M	173	ENSP00000344242:T173M;ENSP00000249377:T173M	ENSP00000249377:T173M	T	+	2	0	LRRC17	102362114	1.000000	0.71417	0.114000	0.21550	0.991000	0.79684	5.125000	0.64715	1.428000	0.47296	0.557000	0.71058	ACG		0.433	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		12	103	0	0	0	0	12	103				
RELN	5649	broad.mit.edu	37	7	103207105	103207105	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:103207105G>C	ENST00000428762.1	-	32	4849	c.4690C>G	c.(4690-4692)Ctg>Gtg	p.L1564V	RELN_ENST00000424685.2_Missense_Mutation_p.L1564V|RELN_ENST00000343529.5_Missense_Mutation_p.L1564V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1564					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCTGTGGCAGGTCAATGGAA	0.473																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4690-4692)CTG>GTG		reelin isoform a							119.0	102.0	108.0					7																	103207105		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103207105G>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4690C>G	7.37:g.103207105G>C	ENSP00000392423:p.Leu1564Val					RELN_uc010liz.2_Missense_Mutation_p.L1564V	p.L1564V	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	32	4850	-			1564					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4690C>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328248	0.60743	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.43294	1.46;0.95;1.46	6.08	3.83	0.44106	.	0.000000	0.64402	D	0.000001	T	0.52500	0.1738	L	0.56769	1.78	0.43160	D	0.994942	D;D	0.76494	0.999;0.974	D;D	0.78314	0.991;0.957	T	0.49735	-0.8908	10	0.40728	T	0.16	.	5.3663	0.16115	0.1895:0.1955:0.615:0.0	.	1564;1564	P78509-2;P78509	.;RELN_HUMAN	V	1564	ENSP00000392423:L1564V;ENSP00000345694:L1564V;ENSP00000388446:L1564V	ENSP00000345694:L1564V	L	-	1	2	RELN	102994341	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.581000	0.36558	2.894000	0.99253	0.591000	0.81541	CTG		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	41	0	0	0	0	7	41				
CPED1	79974	broad.mit.edu	37	7	120629688	120629688	+	Missense_Mutation	SNP	C	C	G	rs374473383		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:120629688C>G	ENST00000310396.5	+	2	480	c.13C>G	c.(13-15)Cca>Gca	p.P5A	CPED1_ENST00000340646.5_Missense_Mutation_p.P5A|CPED1_ENST00000450913.2_Missense_Mutation_p.P5A|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	5						endoplasmic reticulum (GO:0005783)											GGTCTGTCGCCCAGTGTTCCC	0.522																																						uc003vjq.3		NA																	0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(13-15)CCA>GCA		hypothetical protein LOC79974 isoform 1							134.0	118.0	124.0					7																	120629688		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120629688C>G		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.13C>G	7.37:g.120629688C>G	ENSP00000309772:p.Pro5Ala					C7orf58_uc003vjr.1_Missense_Mutation_p.P5A|C7orf58_uc003vjs.3_Missense_Mutation_p.P5A	p.P5A	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			2	460	+	all_neural(327;0.117)		5					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.13C>G	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.700182	0.30142	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.64	3.83	0.44106	.	0.310803	0.29916	N	0.010861	T	0.34193	0.0889	L	0.57536	1.79	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.09377	0.004;0.002	T	0.27400	-1.0075	10	0.12430	T	0.62	.	9.1146	0.36750	0.0:0.7763:0.1465:0.0772	.	5;5	A4D0V7-2;A4D0V7	.;CG058_HUMAN	A	5	ENSP00000309772:P5A;ENSP00000398082:P5A;ENSP00000406122:P5A;ENSP00000345235:P5A	ENSP00000309772:P5A	P	+	1	0	C7orf58	120416924	0.930000	0.31532	0.004000	0.12327	0.952000	0.60782	3.255000	0.51484	0.742000	0.32697	0.655000	0.94253	CCA		0.522	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		10	59	0	0	0	0	10	59				
PTPRZ1	5803	broad.mit.edu	37	7	121701229	121701229	+	Silent	SNP	A	A	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:121701229A>C	ENST00000393386.2	+	30	7314	c.6903A>C	c.(6901-6903)gcA>gcC	p.A2301A	PTPRZ1_ENST00000449182.1_Silent_p.A1434A	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2301					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATGGTGCAGCATTGCCTGATG	0.448																																						uc003vjy.2		NA																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(6901-6903)GCA>GCC		protein tyrosine phosphatase, receptor-type,							99.0	98.0	98.0					7																	121701229		2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121701229A>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6903A>C	7.37:g.121701229A>C						PTPRZ1_uc003vjz.2_Silent_p.A1434A|PTPRZ1_uc011knt.1_Silent_p.A891A	p.A2301A	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			30	7298	+			2301			Cytoplasmic (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.6903A>C	CCDS34740.1																																																																																				0.448	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		24	38	0	0	0	0	24	38				
IQUB	154865	broad.mit.edu	37	7	123097503	123097503	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:123097503G>A	ENST00000466202.1	-	12	2701	c.2125C>T	c.(2125-2127)Ccc>Tcc	p.P709S	RNU6-296P_ENST00000384608.1_RNA|RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Missense_Mutation_p.P709S	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	709					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CAGTTCCAGGGGGACCACTCC	0.453																																						uc003vkn.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(2125-2127)CCC>TCC		IQ motif and ubiquitin domain containing							139.0	142.0	141.0					7																	123097503		2203	4300	6503	SO:0001583	missense	154865							g.chr7:123097503G>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.2125C>T	7.37:g.123097503G>A	ENSP00000417769:p.Pro709Ser					IQUB_uc011kny.1_Missense_Mutation_p.P42S|IQUB_uc003vko.2_Missense_Mutation_p.P709S|IQUB_uc010lkt.2_RNA	p.P709S	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			12	2702	-			709					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.2125C>T	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982201	0.93044	.	.	ENSG00000164675	ENST00000466202;ENST00000324698	T;T	0.33216	1.42;1.42	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.63498	0.2516	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67393	-0.5682	10	0.87932	D	0	.	20.1127	0.97915	0.0:0.0:1.0:0.0	.	709	Q8NA54	IQUB_HUMAN	S	709	ENSP00000417769:P709S;ENSP00000324882:P709S	ENSP00000324882:P709S	P	-	1	0	IQUB	122884739	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	9.075000	0.94004	2.755000	0.94549	0.637000	0.83480	CCC		0.453	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		18	96	0	0	0	0	18	96				
FLNC	2318	broad.mit.edu	37	7	128492757	128492757	+	Silent	SNP	G	G	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:128492757G>A	ENST00000325888.8	+	36	6216	c.5955G>A	c.(5953-5955)tcG>tcA	p.S1985S	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.S1952S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1985					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGCCCCCTCGGGCAACGAGG	0.657																																						uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(5953-5955)TCG>TCA		gamma filamin isoform a							39.0	44.0	43.0					7																	128492757		2043	4186	6229	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128492757G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5955G>A	7.37:g.128492757G>A						FLNC_uc003voa.3_Silent_p.S1952S	p.S1985S	NM_001458	NP_001449	Q14315	FLNC_HUMAN			36	6164	+			1985			Filamin 18.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.5955G>A	CCDS43644.1																																																																																				0.657	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			6	22	0	0	0	0	6	22				
CNTNAP2	26047	broad.mit.edu	37	7	147183067	147183067	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr7:147183067C>G	ENST00000361727.3	+	11	2227	c.1711C>G	c.(1711-1713)Caa>Gaa	p.Q571E		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	571	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAGTGCTCGCAAACATGGGA	0.443										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1711-1713)CAA>GAA		cell recognition molecule Caspr2 precursor							192.0	170.0	178.0					7																	147183067		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147183067C>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1711C>G	7.37:g.147183067C>G	ENSP00000354778:p.Gln571Glu	HNSCC(39;0.1)					p.Q571E	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		11	2227	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	571			EGF-like 1.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1711C>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721222	0.89205	.	.	ENSG00000174469	ENST00000361727	D	0.82255	-1.59	5.88	5.88	0.94601	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000007	D	0.88559	0.6469	L	0.45744	1.44	0.80722	D	1	D	0.61080	0.989	D	0.70016	0.967	D	0.87215	0.2250	10	0.44086	T	0.13	.	18.8161	0.92077	0.0:1.0:0.0:0.0	.	571	Q9UHC6	CNTP2_HUMAN	E	571	ENSP00000354778:Q571E	ENSP00000354778:Q571E	Q	+	1	0	CNTNAP2	146814000	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.709000	0.84645	2.779000	0.95612	0.650000	0.86243	CAA		0.443	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			17	77	0	0	0	0	17	77				
SLC35G5	83650	broad.mit.edu	37	8	11189001	11189001	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr8:11189001A>G	ENST00000382435.4	+	1	605	c.386A>G	c.(385-387)aAc>aGc	p.N129S		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	129	EamA 1.					integral component of membrane (GO:0016021)											CCCGCTGGCAACGCTGCCACT	0.612																																						uc003wtp.1		NA																	0					0						c.(385-387)AAC>AGC		acyl-malonyl condensing enzyme							155.0	146.0	149.0					8																	11189001		2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11189001A>G	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.386A>G	8.37:g.11189001A>G	ENSP00000371872:p.Asn129Ser						p.N129S	NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)	1	507	+			129			DUF6 1.		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.386A>G	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.971596	0.34754	.	.	ENSG00000177710	ENST00000382435	T	0.53640	0.61	0.34	-0.68	0.11346	.	0.000000	0.51477	D	0.000081	T	0.34629	0.0904	L	0.32530	0.975	0.30900	N	0.729395	P	0.41710	0.76	P	0.45538	0.484	T	0.38112	-0.9676	10	0.59425	D	0.04	-6.7723	3.4171	0.07380	0.6552:0.0:0.0:0.3447	.	129	Q96KT7	S35G5_HUMAN	S	129	ENSP00000371872:N129S	ENSP00000371872:N129S	N	+	2	0	SLC35G5	11226411	0.983000	0.35010	0.801000	0.32222	0.208000	0.24298	2.081000	0.41596	-0.937000	0.03719	0.076000	0.15429	AAC		0.612	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		13	57	0	0	0	0	13	57				
TUSC3	7991	broad.mit.edu	37	8	15519695	15519695	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr8:15519695G>T	ENST00000503731.1	+	5	746	c.598G>T	c.(598-600)Ggt>Tgt	p.G200C	TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000382020.4_Missense_Mutation_p.G200C|TUSC3_ENST00000506802.1_Missense_Mutation_p.G200C|TUSC3_ENST00000509380.1_Missense_Mutation_p.G200C	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	200					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CAACTACTCTGGTACCATTGC	0.368																																						uc003wwt.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(598-600)GGT>TGT		tumor suppressor candidate 3 isoform a							166.0	163.0	164.0					8																	15519695		2203	4299	6502	SO:0001583	missense	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15519695G>T	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.598G>T	8.37:g.15519695G>T	ENSP00000424544:p.Gly200Cys					TUSC3_uc003wwr.2_Missense_Mutation_p.G200C|TUSC3_uc003wws.2_Missense_Mutation_p.G200C|TUSC3_uc003wwu.2_Missense_Mutation_p.G200C|TUSC3_uc003wwv.2_Missense_Mutation_p.G200C|TUSC3_uc003www.2_Missense_Mutation_p.G200C|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.G200C	p.G200C	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	5	808	+			200			Helical; (Potential).		A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	c.598G>T	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680266	0.88542	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.88789	0.6532	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D	0.91635	0.999;0.996;0.999;0.997;0.998;0.913	D	0.88793	0.3279	10	0.44086	T	0.13	-6.0409	17.7492	0.88429	0.0:0.0:1.0:0.0	.	200;200;200;200;200;200	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	C	200	ENSP00000371450:G200C;ENSP00000425777:G200C;ENSP00000423426:G200C;ENSP00000424544:G200C	ENSP00000221167:G200C	G	+	1	0	TUSC3	15564066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.524000	0.85096	0.655000	0.94253	GGT		0.368	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		8	117	1	0	0.000274275	0.00521276	8	117				
HMBOX1	79618	broad.mit.edu	37	8	28906499	28906499	+	Silent	SNP	A	A	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr8:28906499A>T	ENST00000397358.3	+	10	1763	c.1059A>T	c.(1057-1059)atA>atT	p.I353I	HMBOX1_ENST00000519047.1_Silent_p.I352I|HMBOX1_ENST00000355231.5_Silent_p.I352I|HMBOX1_ENST00000517386.1_3'UTR|HMBOX1_ENST00000444075.1_Silent_p.I352I|HMBOX1_ENST00000523613.1_Silent_p.I353I|HMBOX1_ENST00000558662.1_Silent_p.I352I|RNA5SP260_ENST00000363849.1_RNA|HMBOX1_ENST00000287701.10_Silent_p.I353I|HMBOX1_ENST00000524238.1_Silent_p.I352I	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	353					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GTCATGGGATAGATGTGCAGA	0.473																																						uc003xhd.3		NA																	0				ovary(1)	1						c.(1057-1059)ATA>ATT		homeobox containing 1							167.0	160.0	162.0					8																	28906499		2203	4300	6503	SO:0001819	synonymous_variant	79618				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:28906499A>T	AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.1059A>T	8.37:g.28906499A>T						HMBOX1_uc010lvd.2_Silent_p.I353I|HMBOX1_uc003xhc.3_Silent_p.I352I|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Silent_p.I353I|HMBOX1_uc011lay.1_Silent_p.I352I|HMBOX1_uc003xhf.2_Silent_p.I339I|HMBOX1_uc003xhg.2_Silent_p.I340I	p.I353I	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)	9	1401	+		Ovarian(32;0.0192)	353					A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Silent	SNP	ENST00000397358.3	37	c.1059A>T	CCDS6071.1																																																																																				0.473	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4	NM_024567		13	127	0	0	0	0	13	127				
ARMC1	55156	broad.mit.edu	37	8	66525539	66525539	+	Silent	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr8:66525539C>A	ENST00000276569.3	-	4	649	c.405G>T	c.(403-405)ctG>ctT	p.L135L	ARMC1_ENST00000458464.2_Intron|ARMC1_ENST00000523384.1_5'Flank	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	135					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TTGTAGTTCCCAGAAAAAATT	0.393																																						uc003xvl.2		NA																	0				skin(1)	1						c.(403-405)CTG>CTT		armadillo repeat-containing protein							148.0	138.0	141.0					8																	66525539		2203	4300	6503	SO:0001819	synonymous_variant	55156				metal ion transport		metal ion binding	g.chr8:66525539C>A	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.405G>T	8.37:g.66525539C>A						ARMC1_uc011leo.1_Intron	p.L135L	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		4	640	-			135					B4E2W7|Q9H018|Q9H820	Silent	SNP	ENST00000276569.3	37	c.405G>T	CCDS6181.1																																																																																				0.393	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		8	128	1	0	0.000442599	0.00827283	8	128				
PEX2	5828	broad.mit.edu	37	8	77896369	77896369	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr8:77896369T>A	ENST00000419564.2	-	4	510	c.46A>T	c.(46-48)Aga>Tga	p.R16*	PEX2_ENST00000357039.4_Nonsense_Mutation_p.R16*|PEX2_ENST00000520103.1_Nonsense_Mutation_p.R16*|PEX2_ENST00000522527.1_Nonsense_Mutation_p.R16*	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	16					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						TGGCTTATTCTTAGCACTCTG	0.423																																						uc003yax.2		NA																	0				ovary(1)	1						c.(46-48)AGA>TGA		peroxin 2							144.0	139.0	141.0					8																	77896369		2203	4300	6503	SO:0001587	stop_gained	5828				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	g.chr8:77896369T>A	M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.46A>T	8.37:g.77896369T>A	ENSP00000400984:p.Arg16*					PEX2_uc003yay.2_Nonsense_Mutation_p.R16*|PEX2_uc003yaz.2_Nonsense_Mutation_p.R16*	p.R16*	NM_000318	NP_000309	P28328	PEX2_HUMAN			4	504	-			16					Q567S6|Q9BW41	Nonsense_Mutation	SNP	ENST00000419564.2	37	c.46A>T	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	T	38	7.271989	0.98179	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527;ENST00000518986	.	.	.	5.9	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.3736	12.3212	0.54985	0.0:0.0:0.2489:0.7511	.	.	.	.	X	16	.	ENSP00000349543:R16X	R	-	1	2	PEX2	78058924	0.998000	0.40836	0.999000	0.59377	0.991000	0.79684	2.594000	0.46189	2.254000	0.74563	0.460000	0.39030	AGA		0.423	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		14	104	0	0	0	0	14	104				
ZNF7	7553	broad.mit.edu	37	8	146068464	146068465	+	Missense_Mutation	DNP	GG	GG	TT	rs370485110		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr8:146068464_146068465GG>TT	ENST00000528372.1	+	5	2212_2213	c.1972_1973GG>TT	c.(1972-1974)GGg>TTg	p.G658L	ZNF7_ENST00000446747.2_Missense_Mutation_p.G669L|ZNF7_ENST00000544249.1_Missense_Mutation_p.G562L|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.G658L			P17097	ZNF7_HUMAN	zinc finger protein 7	658					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AATTCACACCGGGGAGAAGCCT	0.386																																						uc003zeg.3		NA																	0				ovary(4)	4						c.(1972-1974)GGG>TTG		zinc finger protein 7																																				SO:0001583	missense	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146068464_146068465GG>TT	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	Exception_encountered	8.37:g.146068464_146068465delinsTT	ENSP00000432724:p.Gly658Leu					ZNF7_uc010mge.2_Missense_Mutation_p.G669L|ZNF7_uc011lln.1_Missense_Mutation_p.G562L|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Missense_Mutation_p.G562L|COMMD5_uc003zel.1_Intron	p.G658L	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	5	2109_2110	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	658					B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	DNP	ENST00000528372.1	37	c.1972_1973GG>TT	CCDS6435.1																																																																																				0.386	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		7	116	0	0	0	0	7	116				
NFIB	4781	broad.mit.edu	37	9	14146797	14146797	+	Silent	SNP	G	G	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr9:14146797G>T	ENST00000380959.3	-	6	1289	c.816C>A	c.(814-816)ccC>ccA	p.P272P	NFIB_ENST00000380953.1_Silent_p.P272P|NFIB_ENST00000397575.3_Silent_p.P272P|NFIB_ENST00000397579.2_Silent_p.P272P|NFIB_ENST00000380924.1_Silent_p.P20P|NFIB_ENST00000543693.1_Silent_p.P20P|NFIB_ENST00000397581.2_Silent_p.P272P|NFIB_ENST00000380934.4_Silent_p.P298P	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	272					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		ATATAGTTTTGGGTCTTTTGC	0.378			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	uc003zle.2		NA		Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	MYB|HGMA2		adenoid cystic carcinoma|lipoma		0					0						c.(814-816)CCC>CCA		nuclear factor I/B							181.0	188.0	186.0					9																	14146797		2203	4300	6503	SO:0001819	synonymous_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14146797G>T	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.816C>A	9.37:g.14146797G>T						NFIB_uc003zld.2_Silent_p.P20P|NFIB_uc003zlf.2_Silent_p.P272P|NFIB_uc011lmo.1_Silent_p.P272P	p.P272P	NM_005596	NP_005587	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	6	1251	-			272					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Silent	SNP	ENST00000380959.3	37	c.816C>A	CCDS6474.1																																																																																				0.378	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		10	223	1	0	0.00010058	0.00197235	10	223				
ELAVL2	1993	broad.mit.edu	37	9	23704954	23704954	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr9:23704954C>G	ENST00000397312.2	-	4	723	c.449G>C	c.(448-450)cGc>cCc	p.R150P	ELAVL2_ENST00000223951.6_Missense_Mutation_p.R150P|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R150P|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R150P|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R179P	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	150	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AGTAATAATGCGTCCATATTG	0.423																																						uc003zpu.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(448-450)CGC>CCC		ELAV (embryonic lethal, abnormal vision,							166.0	151.0	156.0					9																	23704954		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23704954C>G	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.449G>C	9.37:g.23704954C>G	ENSP00000380479:p.Arg150Pro					ELAVL2_uc003zps.2_Missense_Mutation_p.R150P|ELAVL2_uc003zpt.2_Missense_Mutation_p.R150P|ELAVL2_uc003zpv.2_Missense_Mutation_p.R150P|ELAVL2_uc003zpw.2_Missense_Mutation_p.R150P	p.R150P	NM_004432	NP_004423	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	4	724	-			150			RRM 2.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.449G>C	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220102	0.58560	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	T;T;T;T;T;T	0.33654	1.4;2.52;2.52;2.52;1.4;2.52	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	N	0.04508	-0.205	0.80722	D	1	B;P	0.48162	0.293;0.906	B;P	0.54460	0.268;0.753	T	0.24012	-1.0172	10	0.37606	T	0.19	.	15.0044	0.71501	0.0:0.9301:0.0:0.0699	.	150;150	Q12926;Q12926-2	ELAV2_HUMAN;.	P	150;150;150;150;150;178;15;150	ENSP00000223951:R150P;ENSP00000380479:R150P;ENSP00000440998:R150P;ENSP00000369460:R150P;ENSP00000391757:R15P;ENSP00000412602:R150P	ENSP00000223951:R150P	R	-	2	0	ELAVL2	23694954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.766000	0.68843	2.704000	0.92352	0.655000	0.94253	CGC		0.423	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		9	120	0	0	0	0	9	120				
PLAA	9373	broad.mit.edu	37	9	26905576	26905576	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr9:26905576T>A	ENST00000397292.3	-	14	2738	c.2321A>T	c.(2320-2322)aAg>aTg	p.K774M		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	774	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TGAGGAATACTTTTTTATTTG	0.368																																					Melanoma(175;2670 2735 14091 35526)	uc003zqd.2		NA																	0					0						c.(2320-2322)AAG>ATG		phospholipase A2-activating protein							80.0	80.0	80.0					9																	26905576		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26905576T>A	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.2321A>T	9.37:g.26905576T>A	ENSP00000380460:p.Lys774Met						p.K774M	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	14	2746	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	774			PUL.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.2321A>T	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805048	0.70682	.	.	ENSG00000137055	ENST00000397292	T	0.51325	0.71	6.17	5.05	0.67936	PUL (2);	0.083697	0.85682	D	0.000000	T	0.57932	0.2087	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.59198	-0.7499	10	0.59425	D	0.04	-13.3119	11.8368	0.52330	0.0:0.0673:0.0:0.9327	.	774	Q9Y263	PLAP_HUMAN	M	774	ENSP00000380460:K774M	ENSP00000380460:K774M	K	-	2	0	PLAA	26895576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.585000	0.67497	2.371000	0.80710	0.533000	0.62120	AAG		0.368	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		24	98	0	0	0	0	24	98				
ZNF189	7743	broad.mit.edu	37	9	104170995	104170995	+	Silent	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr9:104170995C>A	ENST00000339664.2	+	3	1074	c.945C>A	c.(943-945)ccC>ccA	p.P315P	ZNF189_ENST00000374861.3_Silent_p.P301P|ZNF189_ENST00000259395.4_Silent_p.P273P	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	315					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGGAAAGACCCCATAAATGTG	0.393																																						uc004bbh.1		NA																	0				ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(943-945)CCC>CCA		zinc finger protein 189 isoform 1							103.0	108.0	106.0					9																	104170995		2203	4300	6503	SO:0001819	synonymous_variant	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104170995C>A	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.945C>A	9.37:g.104170995C>A						ZNF189_uc004bbg.1_Silent_p.P273P|ZNF189_uc004bbi.1_Silent_p.P301P|ZNF189_uc011lvk.1_Silent_p.P300P	p.P315P	NM_003452	NP_003443	O75820	ZN189_HUMAN			3	1221	+		Acute lymphoblastic leukemia(62;0.0559)	315					O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Silent	SNP	ENST00000339664.2	37	c.945C>A	CCDS6754.1																																																																																				0.393	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		9	136	1	0	0.000442599	0.00827283	9	136				
CNTRL	11064	broad.mit.edu	37	9	123911032	123911032	+	Missense_Mutation	SNP	G	G	A	rs369768072		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr9:123911032G>A	ENST00000373855.1	+	24	3802	c.3542G>A	c.(3541-3543)cGc>cAc	p.R1181H	CNTRL_ENST00000373850.1_Missense_Mutation_p.R629H|CNTRL_ENST00000373847.1_Missense_Mutation_p.R629H|CNTRL_ENST00000238341.5_Missense_Mutation_p.R1181H			Q7Z7A1	CNTRL_HUMAN	centriolin	1181					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGAAAACCACGCCCTGGGCAG	0.512																																						uc004bkx.1		NA																	0					0						c.(3541-3543)CGC>CAC		centrosomal protein 110kDa		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	93.0	99.0		3542	-6.5	0.0	9		99	0,8600		0,0,4300	no	missense	CNTRL	NM_007018.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1181/2326	123911032	1,13005	2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123911032G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.3542G>A	9.37:g.123911032G>A	ENSP00000362962:p.Arg1181His					CEP110_uc004bky.1_Missense_Mutation_p.R785H|CEP110_uc004bla.1_Missense_Mutation_p.R629H|CEP110_uc010mvo.1_5'UTR	p.R1181H	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			22	3573	+			1181					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.3542G>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	7.651	0.682920	0.14907	2.27E-4	0.0	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	4.91	-6.47	0.01902	.	.	.	.	.	T	0.18964	0.0455	N	0.01705	-0.755	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29305	-1.0016	9	0.44086	T	0.13	.	11.2167	0.48830	0.2745:0.1067:0.6188:0.0	.	1181;1181	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	H	1181;1181;1181;663;629;629	ENSP00000362962:R1181H;ENSP00000238341:R1181H;ENSP00000362956:R629H;ENSP00000362953:R629H	ENSP00000238341:R1181H	R	+	2	0	CNTRL	122950853	0.000000	0.05858	0.001000	0.08648	0.261000	0.26267	-1.795000	0.01752	-0.778000	0.04566	-0.253000	0.11424	CGC		0.512	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		11	56	0	0	0	0	11	56				
PCDH11X	27328	broad.mit.edu	37	X	91132758	91132758	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chrX:91132758C>A	ENST00000373094.1	+	2	2364	c.1519C>A	c.(1519-1521)Cct>Act	p.P507T	PCDH11X_ENST00000361655.2_Missense_Mutation_p.P507T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P507T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P507T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P507T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P507T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P507T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P507T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P507T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	507	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCTGCTAGGCCCTGATGCTCC	0.423																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(1519-1521)CCT>ACT		protocadherin 11 X-linked isoform c							77.0	63.0	68.0					X																	91132758		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132758C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1519C>A	X.37:g.91132758C>A	ENSP00000362186:p.Pro507Thr					PCDH11X_uc004efl.1_Missense_Mutation_p.P507T|PCDH11X_uc004efo.1_Missense_Mutation_p.P507T|PCDH11X_uc010nmv.1_Missense_Mutation_p.P507T|PCDH11X_uc004efm.1_Missense_Mutation_p.P507T|PCDH11X_uc004efn.1_Missense_Mutation_p.P507T|PCDH11X_uc004efh.1_Missense_Mutation_p.P507T|PCDH11X_uc004efj.1_Missense_Mutation_p.P507T	p.P507T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2364	+			507			Cadherin 5.|Extracellular (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1519C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	1.309	-0.602732	0.03744	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.67865	-0.29;0.74;0.74;-0.29;0.74;-0.29;0.74;0.74;0.74	5.38	-8.66	0.00866	Cadherin (4);Cadherin-like (1);	1.255280	0.05285	N	0.520121	T	0.44932	0.1317	L	0.28776	0.89	0.09310	N	1	B;B;B;B;B;B;B;B	0.09022	0.001;0.001;0.001;0.001;0.001;0.002;0.001;0.0	B;B;B;B;B;B;B;B	0.10450	0.003;0.003;0.003;0.003;0.003;0.005;0.003;0.003	T	0.30592	-0.9973	10	0.48119	T	0.1	.	2.4121	0.04427	0.1555:0.1707:0.3945:0.2793	.	507;507;507;507;507;507;507;507	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	507	ENSP00000378746:P507T;ENSP00000362186:P507T;ENSP00000362189:P507T;ENSP00000355040:P507T;ENSP00000362180:P507T;ENSP00000423762:P507T;ENSP00000355105:P507T;ENSP00000384758:P507T;ENSP00000298274:P507T	ENSP00000298274:P507T	P	+	1	0	PCDH11X	91019414	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.406000	0.07187	-1.310000	0.02312	-0.424000	0.05967	CCT		0.423	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		12	10	1	0	1.09e-07	2.37e-06	12	10				
GPRASP2	114928	broad.mit.edu	37	X	101969805	101969805	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chrX:101969805G>C	ENST00000535209.1	+	4	839	c.8G>C	c.(7-9)gGg>gCg	p.G3A	GPRASP2_ENST00000332262.5_Missense_Mutation_p.G3A|GPRASP2_ENST00000543253.1_Missense_Mutation_p.G3A			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	3						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						accatgactGGGGCAGAGATT	0.498																																						uc004ejk.2		NA																	0				ovary(1)	1						c.(7-9)GGG>GCG		G protein-coupled receptor associated sorting							86.0	87.0	87.0					X																	101969805		2203	4300	6503	SO:0001583	missense	114928					cytoplasm	protein binding	g.chrX:101969805G>C	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.8G>C	X.37:g.101969805G>C	ENSP00000437394:p.Gly3Ala					GPRASP2_uc004ejl.2_Missense_Mutation_p.G3A|GPRASP2_uc004ejm.2_Missense_Mutation_p.G3A|GPRASP2_uc011mrp.1_5'Flank	p.G3A	NM_138437	NP_612446	Q96D09	GASP2_HUMAN			4	1342	+			3					D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.8G>C	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939591	0.34189	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.11604	2.76;2.76;2.76	3.86	3.86	0.44501	.	0.000000	0.41938	D	0.000798	T	0.20129	0.0484	L	0.34521	1.04	0.40056	D	0.975837	D	0.89917	1.0	D	0.85130	0.997	T	0.01048	-1.1469	10	0.66056	D	0.02	-20.328	10.37	0.44049	0.0:0.0:1.0:0.0	.	3	Q96D09	GASP2_HUMAN	A	3	ENSP00000437872:G3A;ENSP00000437394:G3A;ENSP00000339057:G3A	ENSP00000339057:G3A	G	+	2	0	GPRASP2	101856461	1.000000	0.71417	0.997000	0.53966	0.024000	0.10985	3.327000	0.52045	2.205000	0.71048	0.468000	0.43344	GGG		0.498	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		3	39	0	0	0	0	3	39				
CHRDL1	91851	broad.mit.edu	37	X	109919483	109919483	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chrX:109919483C>A	ENST00000372045.1	-	12	1460	c.1329G>T	c.(1327-1329)gaG>gaT	p.E443D	CHRDL1_ENST00000394797.4_Missense_Mutation_p.E449D|CHRDL1_ENST00000482160.1_Missense_Mutation_p.E371D|CHRDL1_ENST00000434224.1_Missense_Mutation_p.E370D|CHRDL1_ENST00000444321.2_Missense_Mutation_p.E450D|CHRDL1_ENST00000218054.4_Missense_Mutation_p.E449D|CHRDL1_ENST00000372042.1_Missense_Mutation_p.E451D			Q9BU40	CRDL1_HUMAN	chordin-like 1	443					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TTTCAGATCTCTCCAGGTACA	0.448																																						uc004eou.3		NA																	0					0						c.(1351-1353)GAG>GAT		chordin-like 1 isoform 1 precursor							184.0	150.0	161.0					X																	109919483		2203	4300	6503	SO:0001583	missense	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109919483C>A	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1329G>T	X.37:g.109919483C>A	ENSP00000361115:p.Glu443Asp					CHRDL1_uc004eov.2_Missense_Mutation_p.E440D|CHRDL1_uc004eow.2_Missense_Mutation_p.E449D|CHRDL1_uc010nps.2_Missense_Mutation_p.E450D|CHRDL1_uc004eot.2_Missense_Mutation_p.E370D|CHRDL1_uc011mss.1_Missense_Mutation_p.E365D	p.E451D	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN			12	1702	-			443					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37	c.1353G>T		.	.	.	.	.	.	.	.	.	.	C	10.43	1.347452	0.24426	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.32988	2.19;1.43;2.19;2.19;2.45;1.44;2.19	4.62	2.68	0.31781	.	0.332630	0.32785	N	0.005651	T	0.14830	0.0358	N	0.14661	0.345	0.31323	N	0.68579	P;B;B;B;B;B	0.39282	0.666;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.37601	0.254;0.001;0.001;0.001;0.001;0.001	T	0.12553	-1.0543	9	.	.	.	-8.691	5.998	0.19505	0.0:0.5401:0.1474:0.3125	.	371;450;430;443;451;370	B4DMP3;E9PGS5;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;CRDL1_HUMAN;.;.	D	443;370;449;449;451;371;450	ENSP00000361115:E443D;ENSP00000389627:E370D;ENSP00000218054:E449D;ENSP00000378276:E449D;ENSP00000361112:E451D;ENSP00000418443:E371D;ENSP00000399739:E450D	.	E	-	3	2	CHRDL1	109806139	0.938000	0.31826	1.000000	0.80357	0.997000	0.91878	-0.212000	0.09319	0.367000	0.24454	0.600000	0.82982	GAG		0.448	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		29	44	1	0	2.46e-21	5.68e-20	29	44				
SAGE1	55511	broad.mit.edu	37	X	134994090	134994090	+	Silent	SNP	A	A	G			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chrX:134994090A>G	ENST00000370709.3	+	17	2499	c.2499A>G	c.(2497-2499)aaA>aaG	p.K833K	SAGE1_ENST00000537770.1_Silent_p.K457K|SAGE1_ENST00000324447.3_Silent_p.K833K|SAGE1_ENST00000535938.1_Silent_p.K833K			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	833						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AATTAATGAAAGAAGTTCGAA	0.348																																						uc004ezh.2		NA																	0				ovary(2)|skin(1)	3						c.(2497-2499)AAA>AAG		sarcoma antigen 1							42.0	42.0	42.0					X																	134994090		2202	4297	6499	SO:0001819	synonymous_variant	55511							g.chrX:134994090A>G	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2499A>G	X.37:g.134994090A>G						SAGE1_uc010nry.1_Silent_p.K802K|SAGE1_uc011mvv.1_Silent_p.K457K	p.K833K	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			18	2666	+	Acute lymphoblastic leukemia(192;0.000127)		833					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.2499A>G	CCDS14652.1																																																																																				0.348	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		14	61	0	0	0	0	14	61				
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T	rs375424853		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr1:74575212_74575213insT	ENST00000395089.1	-	4	731_732	c.732_733insA	c.(730-735)aaacagfs	p.Q245fs	LRRIQ3_ENST00000354431.4_Frame_Shift_Ins_p.Q245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.Q137fs|LRRIQ3_ENST00000468759.1_5'UTR			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621). {ECO:0000305}.						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327																																						uc001dfy.3		NA																	0				ovary(2)	2						c.(730-735)AAACAGfs		leucine-rich repeats and IQ motif containing 3																																				SO:0001589	frameshift_variant	127255							g.chr1:74575212_74575213insT	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.733dupA	1.37:g.74575221_74575221dupT	ENSP00000378524:p.Gln245fs					LRRIQ3_uc001dfz.3_RNA	p.K244fs	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			5	924_925	-			244_245	QQEKII -> TAGKNY (in Ref. 1; BAD18621).				A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Frame_Shift_Ins	INS	ENST00000395089.1	37	c.732_733insA	CCDS41350.1																																																																																				0.327	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		7	134	NA	NA	NA	NA	7	134	---	---	---	---
UPF2	26019	broad.mit.edu	37	10	12001252	12001253	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr10:12001252_12001253insT	ENST00000356352.2	-	11	2760_2761	c.2287_2288insA	c.(2287-2289)accfs	p.T763fs	UPF2_ENST00000357604.5_Frame_Shift_Ins_p.T763fs|UPF2_ENST00000397053.2_Frame_Shift_Ins_p.T763fs			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	763	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTTTTTCACGGTTTTTTCAGCT	0.416																																						uc001ila.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2287-2289)ACCfs		UPF2 regulator of nonsense transcripts homolog																																				SO:0001589	frameshift_variant	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12001252_12001253insT	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2288dupA	10.37:g.12001258_12001258dupT	ENSP00000348708:p.Thr763fs					UPF2_uc001ilb.2_Frame_Shift_Ins_p.T763fs|UPF2_uc001ilc.2_Frame_Shift_Ins_p.T763fs|UPF2_uc009xiz.1_Frame_Shift_Ins_p.T763fs	p.T763fs	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			11	2761_2762	-		Renal(717;0.228)	763			Sufficient for interaction with UPF3A and UPF3B.|Sufficient for interaction with EIF4A1 and EIF1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Frame_Shift_Ins	INS	ENST00000356352.2	37	c.2287_2288insA	CCDS7086.1																																																																																				0.416	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			17	116	NA	NA	NA	NA	17	116	---	---	---	---
SOCS7	30837	broad.mit.edu	37	17	36508743	36508743	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr17:36508743delC	ENST00000577233.1	+	1	616	c.616delC	c.(616-618)cggfs	p.R206fs	SOCS7_ENST00000331159.5_Frame_Shift_Del_p.R206fs	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	206	Mediates interaction with SORBS3.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GGGTCCTTCTCGGAAGGGCTC	0.697																																						uc002hqa.2		NA																	0				skin(1)	1						c.(616-618)CGGfs		suppressor of cytokine signaling 7							4.0	5.0	5.0					17																	36508743		2111	4173	6284	SO:0001589	frameshift_variant	30837				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding	g.chr17:36508743delC	AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	29846	protein-coding gene	gene with protein product	"""Nck, Ash and phospholipase C binding protein"", ""NCK-associated protein 4"""	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.616delC	17.37:g.36508743delC	ENSP00000464034:p.Arg206fs					SOCS7_uc010cvl.2_Frame_Shift_Del_p.R206fs|SOCS7_uc002hqb.2_RNA	p.R206fs	NM_014598	NP_055413	O14512	SOCS7_HUMAN			1	739	+	Breast(7;3.47e-17)		206			Mediates interaction with SORBS3.		A2VCU2|Q0IJ63	Frame_Shift_Del	DEL	ENST00000577233.1	37	c.616delC	CCDS32637.1																																																																																				0.697	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	XM_371052		2	4	NA	NA	NA	NA	2	4	---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16977273	16977273	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr19:16977273delC	ENST00000248054.5	+	12	1733	c.1712delC	c.(1711-1713)tccfs	p.S571fs	SIN3B_ENST00000379803.1_Frame_Shift_Del_p.S603fs|SIN3B_ENST00000595541.1_Frame_Shift_Del_p.S161fs					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TACCTCAAGTCCCTTGACCAC	0.587																																						uc002ney.1		NA																	0				ovary(2)	2						c.(1807-1809)TCCfs		SIN3 homolog B, transcription regulator							156.0	111.0	127.0					19																	16977273		2203	4300	6503	SO:0001589	frameshift_variant	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16977273delC	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1712delC	19.37:g.16977273delC	ENSP00000248054:p.Ser571fs					SIN3B_uc002nez.1_Frame_Shift_Del_p.S571fs|SIN3B_uc010xpi.1_Frame_Shift_Del_p.S161fs	p.S603fs	NM_015260	NP_056075	O75182	SIN3B_HUMAN			13	1822	+			603						Frame_Shift_Del	DEL	ENST00000248054.5	37	c.1808delC																																																																																					0.587	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		8	26	NA	NA	NA	NA	8	26	---	---	---	---
SEMA3F	6405	broad.mit.edu	37	3	50212549	50212549	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr3:50212549delT	ENST00000002829.3	+	6	961	c.477delT	c.(475-477)actfs	p.T159fs	SEMA3F_ENST00000413852.1_Intron|SEMA3F_ENST00000434342.1_Intron|MIR566_ENST00000385187.1_RNA	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	159	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GGACCCAGACTCAGGCGGTCA	0.697																																						uc003cyj.2		NA																	0				lung(1)|skin(1)	2						c.(475-477)ACTfs		semaphorin 3F precursor							21.0	23.0	22.0					3																	50212549		2199	4298	6497	SO:0001589	frameshift_variant	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50212549delT	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.477delT	3.37:g.50212549delT	ENSP00000002829:p.Thr159fs					SEMA3F_uc003cyk.2_Intron	p.T159fs	NM_004186	NP_004177	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	6	675	+			159	Missing (in Ref. 2).		Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Frame_Shift_Del	DEL	ENST00000002829.3	37	c.477delT	CCDS2811.1																																																																																				0.697	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		2	4	NA	NA	NA	NA	2	4	---	---	---	---
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T	rs533914363		TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr4:76539579_76539580insT	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aaacgafs	p.R75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.R75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322																																						uc003hiq.2		NA																	0				ovary(2)|stomach(2)|breast(2)|skin(1)	7						c.(220-225)AAACGAfs		cyclin-dependent kinase-like 2																																				SO:0001589	frameshift_variant	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76539579_76539580insT	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.223dupA	4.37:g.76539588_76539588dupT	ENSP00000412365:p.Arg75fs					CDKL2_uc011cbp.1_Frame_Shift_Ins_p.K74fs|CDKL2_uc010iix.1_Intron	p.K74fs	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	747_748	-			74_75			Protein kinase.		B2R695	Frame_Shift_Ins	INS	ENST00000429927.2	37	c.222_223insA	CCDS3570.1																																																																																				0.322	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		7	301	NA	NA	NA	NA	7	301	---	---	---	---
FABP6	2172	broad.mit.edu	37	5	159659192	159659192	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-6010-01A-11D-1683-08	TCGA-CN-6010-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2d9693f3-0917-42be-97b8-4dc15cc4d3f6	0aca8971-6bab-418e-a861-c266e085532e	g.chr5:159659192delA	ENST00000402432.3	+	2	283	c.155delA	c.(154-156)cagfs	p.Q52fs	FABP6_ENST00000393980.4_Frame_Shift_Del_p.Q101fs|FABP6_ENST00000393982.1_Frame_Shift_Del_p.Q101fs	NM_001445.2	NP_001436.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	52					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTGGTCCCAGCACTACTCC	0.567																																					Colon(29;562 677 12756 16385 20992)	uc003lya.1		NA																	0					0						c.(154-156)CAGfs		gastrotropin isoform 2							66.0	49.0	54.0					5																	159659192		2203	4300	6503	SO:0001589	frameshift_variant	2172				bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	g.chr5:159659192delA	U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"""Fatty acid binding protein family"""	3561	protein-coding gene	gene with protein product	"""illeal lipid-binding protein"", ""ileal bile acid binding protein"", ""gastrotropin"""	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000402432.3:c.155delA	5.37:g.159659192delA	ENSP00000385433:p.Gln52fs					FABP6_uc003lxx.1_Frame_Shift_Del_p.Q101fs|FABP6_uc003lxz.1_Frame_Shift_Del_p.Q101fs	p.Q52fs	NM_001445	NP_001436	P51161	FABP6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	283	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	52					Q07DR7|Q8TBI3|Q9UGI7	Frame_Shift_Del	DEL	ENST00000402432.3	37	c.155delA	CCDS4349.1																																																																																				0.567	FABP6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320505.2	NM_001040442		2	4	NA	NA	NA	NA	2	4	---	---	---	---
