#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
CD52	1043	broad.mit.edu	37	1	26644515	26644515	+	Missense_Mutation	SNP	C	C	T	rs141117966	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:26644515C>T	ENST00000374213.2	+	1	68	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	UBXN11_ENST00000374222.1_Intron|UBXN11_ENST00000374217.2_Intron|CD52_ENST00000492808.1_3'UTR	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule	3					positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory burst (GO:0045730)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				large_intestine(1)	1		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	CAAAATGAAGCGCTTCCTCTT	0.512																																						uc001bmc.2		NA																	0					0						c.(7-9)CGC>TGC		CD52 antigen precursor	Alemtuzumab(DB00087)	C	CYS/ARG,	4,4402	8.1+/-20.4	0,4,2199	259.0	191.0	214.0		7,	-0.2	1.0	1	dbSNP_134	214	0,8600		0,0,4300	no	missense,intron	CD52,UBXN11	NM_001803.2,NM_145345.2	180,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	possibly-damaging,	3/62,	26644515	4,13002	2203	4300	6503	SO:0001583	missense	1043				elevation of cytosolic calcium ion concentration|respiratory burst	anchored to membrane|integral to plasma membrane|membrane fraction		g.chr1:26644515C>T		CCDS30647.1	1p36	2008-02-05	2006-03-28	2005-02-07	ENSG00000169442	ENSG00000169442		"""CD molecules"""	1804	protein-coding gene	gene with protein product		114280	"""CD52 antigen (CAMPATH-1 antigen)"""	CDW52		1711975	Standard	NM_001803		Approved		uc001bmc.3	P31358	OTTHUMG00000003491	ENST00000374213.2:c.7C>T	1.37:g.26644515C>T	ENSP00000363330:p.Arg3Cys					UBXN11_uc001bma.2_Intron|CD52_uc009vsg.1_RNA	p.R3C	NM_001803	NP_001794	P31358	CD52_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	1	105	+		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	3					Q5T138|Q9BW46	Missense_Mutation	SNP	ENST00000374213.2	37	c.7C>T	CCDS30647.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460749	0.26248	9.08E-4	0.0	ENSG00000169442	ENST00000374213	T	0.36699	1.24	4.05	-0.178	0.13303	.	0.788204	0.10392	N	0.680354	T	0.37128	0.0992	.	.	.	0.28087	N	0.931965	D	0.62365	0.991	P	0.51324	0.666	T	0.28396	-1.0045	9	0.52906	T	0.07	.	4.7137	0.12884	0.1908:0.3708:0.4384:0.0	.	3	P31358	CD52_HUMAN	C	3	ENSP00000363330:R3C	ENSP00000363330:R3C	R	+	1	0	CD52	26517102	0.996000	0.38824	0.962000	0.40283	0.123000	0.20343	0.059000	0.14322	-0.018000	0.14079	-0.419000	0.06015	CGC		0.512	CD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009704.1	NM_001803		41	109	0	0	0	0	41	109				
RPS6KA1	6195	broad.mit.edu	37	1	26888041	26888041	+	Missense_Mutation	SNP	C	C	T	rs535204806		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:26888041C>T	ENST00000374168.2	+	17	1631	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R401W|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R477W|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R482W|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R502W|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R401W	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	493	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGAGCTGATGCGGGGTGGGGA	0.572																																						uc001bmr.1		NA																	0				lung(1)	1						c.(1477-1479)CGG>TGG		ribosomal protein S6 kinase, 90kDa, polypeptide							174.0	158.0	164.0					1																	26888041		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26888041C>T	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1477C>T	1.37:g.26888041C>T	ENSP00000363283:p.Arg493Trp					RPS6KA1_uc010ofe.1_Missense_Mutation_p.R401W|RPS6KA1_uc010off.1_Missense_Mutation_p.R477W|RPS6KA1_uc001bms.1_Missense_Mutation_p.R502W|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R336W	p.R493W	NM_002953	NP_002944	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	17	1640	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	493			Protein kinase 2.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.1477C>T	CCDS284.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260718	0.80246	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382;ENST00000403732	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.81	5.84	4.9	0.64082	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	L	0.49350	1.555	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.69654	0.878;0.965;0.948	T	0.60895	-0.7172	10	0.87932	D	0	.	13.9714	0.64242	0.3416:0.6584:0.0:0.0	.	477;502;493	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	W	493;482;401;401;477;171;502;109	ENSP00000363283:R493W;ENSP00000363281:R482W;ENSP00000431651:R401W;ENSP00000363277:R401W;ENSP00000432281:R477W;ENSP00000435412:R502W;ENSP00000383967:R109W	ENSP00000363277:R401W	R	+	1	2	RPS6KA1	26760628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.149000	0.31626	1.425000	0.47237	0.655000	0.94253	CGG		0.572	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		8	211	0	0	0	0	8	211				
EIF3I	8668	broad.mit.edu	37	1	32694413	32694413	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:32694413A>G	ENST00000373586.1	+	8	797	c.725A>G	c.(724-726)gAc>gGc	p.D242G	EIF3I_ENST00000471486.1_3'UTR|MTMR9LP_ENST00000441044.1_RNA	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I											breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CCCAACTATGACCATGTAAGA	0.507																																					Colon(102;1138 2140 2180 17876)	uc001bur.3		NA																	0				ovary(1)	1						c.(724-726)GAC>GGC		eukaryotic translation initiation factor 3,							149.0	156.0	154.0					1																	32694413		2203	4300	6503	SO:0001583	missense	8668					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr1:32694413A>G	U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"""WD repeat domain containing"""	3272	protein-coding gene	gene with protein product		603911	"""eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"""	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.725A>G	1.37:g.32694413A>G	ENSP00000362688:p.Asp242Gly					EIF3I_uc009vuc.2_Missense_Mutation_p.D242G|EIF3I_uc001bus.2_Missense_Mutation_p.D194G	p.D242G	NM_003757	NP_003748	Q13347	EIF3I_HUMAN			9	1258	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	242						Missense_Mutation	SNP	ENST00000373586.1	37	c.725A>G	CCDS357.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.337747	0.81911	.	.	ENSG00000084623	ENST00000373586	T	0.81330	-1.48	4.61	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90995	0.7168	M	0.92833	3.35	0.80722	D	1	D	0.64830	0.994	D	0.64687	0.928	D	0.93223	0.6610	10	0.87932	D	0	-14.2213	14.2995	0.66336	1.0:0.0:0.0:0.0	.	242	Q13347	EIF3I_HUMAN	G	242	ENSP00000362688:D242G	ENSP00000362688:D242G	D	+	2	0	EIF3I	32467000	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	8.935000	0.92923	1.852000	0.53769	0.379000	0.24179	GAC		0.507	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019282.2	NM_003757		96	319	0	0	0	0	96	319				
AK2	204	broad.mit.edu	37	1	33480136	33480136	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:33480136G>C	ENST00000373449.2	-	5	526	c.485C>G	c.(484-486)cCc>cGc	p.P162R	AK2_ENST00000548033.1_Missense_Mutation_p.P120R|AK2_ENST00000491241.1_5'Flank|AK2_ENST00000467905.1_Missense_Mutation_p.P162R|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000480134.1_Silent_p.A130A|AK2_ENST00000354858.6_Missense_Mutation_p.P162R	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1			adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATCTTTCATGGGCTCTTTTGG	0.413																																						uc001bwp.1		NA																	0					0						c.(484-486)CCC>CGC		adenylate kinase 2 isoform a							219.0	230.0	226.0					1																	33480136		2203	4300	6503	SO:0001583	missense	204				nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding	g.chr1:33480136G>C	U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000373449.2:c.485C>G	1.37:g.33480136G>C	ENSP00000362548:p.Pro162Arg					uc001bwn.2_Intron|AK2_uc001bwo.1_Missense_Mutation_p.P162R|AK2_uc010ohq.1_Missense_Mutation_p.P154R|AK2_uc009vud.1_Missense_Mutation_p.P120R|AK2_uc010ohr.1_Missense_Mutation_p.P114R|AK2_uc001bwq.1_Missense_Mutation_p.P114R	p.P162R	NM_001625	NP_001616	P54819	KAD2_HUMAN			5	527	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	162						Missense_Mutation	SNP	ENST00000373449.2	37	c.485C>G	CCDS373.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610699	0.66558	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000354858;ENST00000398192	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.12	5.12	0.69794	Adenylate kinase, active site lid domain (1);	0.321128	0.38005	N	0.001858	D	0.84651	0.5519	M	0.87269	2.87	0.80722	D	1	P;P;P;B	0.38440	0.539;0.631;0.594;0.369	P;B;B;B	0.46110	0.504;0.141;0.434;0.307	D	0.86116	0.1565	10	0.54805	T	0.06	-8.7633	15.2434	0.73488	0.0:0.0:0.8511:0.1489	.	154;120;162;162	P54819-5;F8VY04;P54819;P54819-2	.;.;KAD2_HUMAN;.	R	162;120;162;162;162	ENSP00000362548:P162R;ENSP00000449003:P120R;ENSP00000447082:P162R;ENSP00000346921:P162R	ENSP00000346921:P162R	P	-	2	0	AK2	33252723	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.455000	0.35190	2.760000	0.94817	0.655000	0.94253	CCC		0.413	AK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011884.1	NM_001625		70	398	0	0	0	0	70	398				
TRIM62	55223	broad.mit.edu	37	1	33625294	33625294	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:33625294G>A	ENST00000291416.5	-	3	989	c.756C>T	c.(754-756)tcC>tcT	p.S252S	TRIM62_ENST00000543586.1_Silent_p.S131S|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	252					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CTTACCGCTCGGACAGTGAGG	0.682																																						uc001bxb.2		NA																	0					0						c.(754-756)TCC>TCT		tripartite motif-containing 62							26.0	28.0	27.0					1																	33625294		2203	4299	6502	SO:0001819	synonymous_variant	55223					intracellular	zinc ion binding	g.chr1:33625294G>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.756C>T	1.37:g.33625294G>A							p.S252S	NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN			3	1394	-		Myeloproliferative disorder(586;0.0393)	252					B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	ENST00000291416.5	37	c.756C>T	CCDS376.1																																																																																				0.682	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		14	31	0	0	0	0	14	31				
IPO13	9670	broad.mit.edu	37	1	44422613	44422613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:44422613G>A	ENST00000372343.3	+	5	1898	c.1236G>A	c.(1234-1236)tgG>tgA	p.W412*	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	412					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATGGATTCTGGTCCTCAGACG	0.507																																						uc001ckx.2		NA																	0				central_nervous_system(1)	1						c.(1234-1236)TGG>TGA		importin 13							65.0	62.0	63.0					1																	44422613		2203	4300	6503	SO:0001587	stop_gained	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44422613G>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1236G>A	1.37:g.44422613G>A	ENSP00000361418:p.Trp412*						p.W412*	NM_014652	NP_055467	O94829	IPO13_HUMAN			5	2031	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	412			HEAT 6.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Nonsense_Mutation	SNP	ENST00000372343.3	37	c.1236G>A	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	43	10.245057	0.99367	.	.	ENSG00000117408	ENST00000372343	.	.	.	6.03	6.03	0.97812	.	0.058540	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.854	20.5596	0.99324	0.0:0.0:1.0:0.0	.	.	.	.	X	412	.	ENSP00000361418:W412X	W	+	3	0	IPO13	44195200	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.570000	0.98174	2.868000	0.98415	0.555000	0.69702	TGG		0.507	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		34	90	0	0	0	0	34	90				
C1orf177	163747	broad.mit.edu	37	1	55277720	55277720	+	Splice_Site	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:55277720G>A	ENST00000371273.3	+	6	635	c.620G>A	c.(619-621)gGg>gAg	p.G207E	C1orf177_ENST00000358193.3_Splice_Site_p.G207E	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	207										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GTGCTCTAGGGGAGTGGTCTG	0.627																																						uc001cyb.3		NA																	0					0						c.(619-621)GGG>GAG		hypothetical protein LOC163747 isoform 2							84.0	92.0	89.0					1																	55277720		2203	4300	6503	SO:0001630	splice_region_variant	163747							g.chr1:55277720G>A	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.619-1G>A	1.37:g.55277720G>A						C1orf177_uc001cya.3_Missense_Mutation_p.G207E	p.G207E	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN			6	674	+			207					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.620G>A	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873455	0.72180	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.26660	1.72;1.72	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000006	T	0.49898	0.1584	M	0.71581	2.175	0.52501	D	0.999954	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.52786	-0.8529	10	0.87932	D	0	-6.0E-4	13.9201	0.63926	0.0:0.0:1.0:0.0	.	207;207	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	E	207	ENSP00000350924:G207E;ENSP00000360320:G207E	ENSP00000350924:G207E	G	+	2	0	C1orf177	55050308	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	5.204000	0.65180	2.341000	0.79615	0.462000	0.41574	GGG		0.627	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607	Missense_Mutation	53	164	0	0	0	0	53	164				
TBX15	6913	broad.mit.edu	37	1	119456776	119456776	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:119456776G>C	ENST00000369429.3	-	6	897	c.888C>G	c.(886-888)aaC>aaG	p.N296K	TBX15_ENST00000207157.3_Missense_Mutation_p.N190K			Q96SF7	TBX15_HUMAN	T-box 15	296					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TAGCAAAAGGGTTTCGGTCAA	0.353																																						uc001ehl.1		NA																	0				large_intestine(1)|pancreas(1)	2						c.(568-570)AAC>AAG		T-box 15							101.0	102.0	102.0					1																	119456776		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119456776G>C	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.888C>G	1.37:g.119456776G>C	ENSP00000358437:p.Asn296Lys						p.N190K	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	6	885	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	296			T-box.		Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.570C>G		.	.	.	.	.	.	.	.	.	.	G	20.7	4.038100	0.75617	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429	D;D	0.92752	-3.1;-3.1	5.68	5.68	0.88126	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97592	0.9211	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98465	1.0598	10	0.87932	D	0	.	14.012	0.64503	0.072:0.0:0.928:0.0	.	296	Q96SF7	TBX15_HUMAN	K	60;190;296	ENSP00000207157:N190K;ENSP00000358437:N296K	ENSP00000207157:N190K	N	-	3	2	TBX15	119258299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.647000	0.46639	2.674000	0.91012	0.655000	0.94253	AAC		0.353	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		13	88	0	0	0	0	13	88				
ITGA10	8515	broad.mit.edu	37	1	145535761	145535761	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:145535761C>T	ENST00000369304.3	+	16	2124	c.1949C>T	c.(1948-1950)cCa>cTa	p.P650L	ITGA10_ENST00000538811.1_Missense_Mutation_p.P519L|ITGA10_ENST00000539363.1_Missense_Mutation_p.P507L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	650					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATCTGACCCCATCACTGGAG	0.562																																						uc001eoa.2		NA																	0				lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(1948-1950)CCA>CTA		integrin, alpha 10 precursor							125.0	119.0	121.0					1																	145535761		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145535761C>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1949C>T	1.37:g.145535761C>T	ENSP00000358310:p.Pro650Leu					NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.P519L|ITGA10_uc009wiw.2_Missense_Mutation_p.P507L|ITGA10_uc010oyw.1_Missense_Mutation_p.P595L	p.P650L	NM_003637	NP_003628	O75578	ITA10_HUMAN			16	2025	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		650			Extracellular (Potential).|FG-GAP 7.		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1949C>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076199	0.36662	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.55052	0.54;0.54;0.54	4.93	4.93	0.64822	Integrin alpha-2 (1);	0.359807	0.26776	N	0.022548	T	0.28067	0.0692	N	0.08118	0	0.45867	D	0.998722	B;B;P;P	0.45531	0.411;0.232;0.86;0.467	B;B;P;B	0.46510	0.176;0.176;0.519;0.27	T	0.11665	-1.0578	10	0.34782	T	0.22	.	16.0491	0.80744	0.0:1.0:0.0:0.0	.	616;519;507;650	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	L	650;616;507;519	ENSP00000358310:P650L;ENSP00000439894:P507L;ENSP00000440011:P519L	ENSP00000358310:P650L	P	+	2	0	ITGA10	144247118	0.003000	0.15002	0.104000	0.21259	0.658000	0.38924	1.494000	0.35616	2.726000	0.93360	0.655000	0.94253	CCA		0.562	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		7	301	0	0	0	0	7	301				
FLG	2312	broad.mit.edu	37	1	152278060	152278060	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:152278060G>C	ENST00000368799.1	-	3	9337	c.9302C>G	c.(9301-9303)tCa>tGa	p.S3101*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3101	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)			TTGGGATGCTGAGTGCCTGGA	0.582									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(9301-9303)TCA>TGA		filaggrin							177.0	228.0	212.0					1																	152278060		1952	4210	6162	SO:0001587	stop_gained	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.chr1:152278060G>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.9302C>G	1.37:g.152278060G>C	ENSP00000357789:p.Ser3101*						p.S3101*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9338	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3101			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.9302C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	49	15.026742	0.99819	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	11.8374	0.52333	0.0:0.0:1.0:0.0	.	.	.	.	X	3101	.	ENSP00000357789:S3101X	S	-	2	0	FLG	150544684	0.000000	0.05858	0.017000	0.16124	0.040000	0.13550	0.166000	0.16583	1.886000	0.54624	0.449000	0.29647	TCA		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		110	485	0	0	0	0	110	485				
PAPPA2	60676	broad.mit.edu	37	1	176525520	176525520	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:176525520C>T	ENST00000367662.3	+	2	1226	c.62C>T	c.(61-63)tCt>tTt	p.S21F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S21F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	21					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCACTCTGTTCTGCCAACTCT	0.512																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(61-63)TCT>TTT		pappalysin 2 isoform 1							100.0	101.0	101.0					1																	176525520		2016	4193	6209	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525520C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.62C>T	1.37:g.176525520C>T	ENSP00000356634:p.Ser21Phe					PAPPA2_uc001gky.1_Missense_Mutation_p.S21F|PAPPA2_uc009www.2_RNA	p.S21F	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	1226	+			21					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.62C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	6.654	0.489205	0.12641	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.34072	4.61;1.38	4.82	3.68	0.42216	.	0.870075	0.09432	U	0.802974	T	0.24586	0.0596	N	0.22421	0.69	0.09310	N	1	B;P	0.36438	0.104;0.553	B;B	0.32465	0.03;0.146	T	0.11518	-1.0584	10	0.87932	D	0	-1.1716	8.889	0.35420	0.0:0.8778:0.0:0.1222	.	21;21	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	F	21	ENSP00000356634:S21F;ENSP00000356633:S21F	ENSP00000356633:S21F	S	+	2	0	PAPPA2	174792143	0.003000	0.15002	0.026000	0.17262	0.240000	0.25518	1.669000	0.37492	2.232000	0.73038	0.561000	0.74099	TCT		0.512	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			49	170	0	0	0	0	49	170				
ASTN1	460	broad.mit.edu	37	1	176915237	176915237	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:176915237G>A	ENST00000367654.3	-	13	2309	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F	ASTN1_ENST00000424564.2_Missense_Mutation_p.L692F|ASTN1_ENST00000367657.3_Missense_Mutation_p.L692F|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.L692F	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	700	EGF-like 3.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCACACCAAGCTTGTAGTCC	0.517																																						uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2074-2076)CTT>TTT		astrotactin isoform 1							103.0	90.0	95.0					1																	176915237		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176915237G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2098C>T	1.37:g.176915237G>A	ENSP00000356626:p.Leu700Phe					ASTN1_uc001glb.1_Missense_Mutation_p.L692F|ASTN1_uc001gld.1_Missense_Mutation_p.L692F|ASTN1_uc009wwx.1_Missense_Mutation_p.L692F	p.L692F	NM_004319	NP_004310	O14525	ASTN1_HUMAN			13	2286	-			700			EGF-like 3.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2074C>T		.	.	.	.	.	.	.	.	.	.	G	22.2	4.252166	0.80135	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13	5.4	5.4	0.78164	.	0.059022	0.64402	D	0.000003	D	0.98065	0.9362	L	0.32530	0.975	0.54753	D	0.999984	D;D;D	0.63880	0.993;0.983;0.983	P;P;P	0.56563	0.801;0.731;0.731	D	0.99780	1.1027	10	0.87932	D	0	-15.4934	18.787	0.91959	0.0:0.0:1.0:0.0	.	700;692;692	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	F	692;692;700;692;692	ENSP00000356629:L692F;ENSP00000354536:L692F;ENSP00000356626:L700F;ENSP00000395041:L692F	ENSP00000354536:L692F	L	-	1	0	ASTN1	175181860	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.139000	0.77314	2.537000	0.85549	0.655000	0.94253	CTT		0.517	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		6	116	0	0	0	0	6	116				
EDEM3	80267	broad.mit.edu	37	1	184688698	184688698	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:184688698T>C	ENST00000318130.8	-	10	1222	c.956A>G	c.(955-957)tAt>tGt	p.Y319C	EDEM3_ENST00000367512.3_Missense_Mutation_p.Y276C	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	319				HY -> VS (in Ref. 4; AAI05587). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TATGGCATCATAGTGCTAAAA	0.363																																						uc010pok.1		NA																	0				skin(1)	1						c.(955-957)TAT>TGT		ER degradation enhancer, mannosidase alpha-like							83.0	77.0	79.0					1																	184688698		2203	4300	6503	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184688698T>C	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.956A>G	1.37:g.184688698T>C	ENSP00000318147:p.Tyr319Cys					EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.Y319C	p.Y319C	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN			10	1217	-			319	HY -> VS (in Ref. 4; AAI05587).				B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.956A>G	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	T	21.0	4.080529	0.76528	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.72725	-0.68;-0.68	5.13	5.13	0.70059	.	0.060073	0.64402	D	0.000002	D	0.88930	0.6571	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92444	0.5964	10	0.87932	D	0	.	14.949	0.71057	0.0:0.0:0.0:1.0	.	319	Q9BZQ6	EDEM3_HUMAN	C	319;276	ENSP00000318147:Y319C;ENSP00000356482:Y276C	ENSP00000318147:Y319C	Y	-	2	0	EDEM3	182955321	1.000000	0.71417	0.858000	0.33744	0.927000	0.56198	7.883000	0.87264	1.931000	0.55961	0.383000	0.25322	TAT		0.363	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		17	78	0	0	0	0	17	78				
PTPRC	5788	broad.mit.edu	37	1	198703458	198703458	+	Splice_Site	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:198703458T>C	ENST00000367376.2	+	22	2346	c.2175T>C	c.(2173-2175)ggT>ggC	p.G725G	PTPRC_ENST00000352140.3_Splice_Site_p.G677G|PTPRC_ENST00000348564.6_Splice_Site_p.G566G|PTPRC_ENST00000594404.1_Splice_Site_p.G564G|PTPRC_ENST00000442510.2_Splice_Site_p.G727G	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	725	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACCTCCTAGGTCCCAGGGATG	0.338																																						uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(2173-2175)GGT>GGC		protein tyrosine phosphatase, receptor type, C							262.0	275.0	270.0					1																	198703458		2203	4299	6502	SO:0001630	splice_region_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198703458T>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2174-1T>C	1.37:g.198703458T>C						PTPRC_uc001gus.1_Silent_p.G677G|PTPRC_uc001gut.1_Silent_p.G564G|PTPRC_uc010ppg.1_Silent_p.G661G	p.G725G	NM_002838	NP_002829	P08575	PTPRC_HUMAN			22	2355	+			725			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.2175T>C																																																																																					0.338	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Silent	15	725	0	0	0	0	15	725				
SLC26A9	115019	broad.mit.edu	37	1	205904837	205904837	+	Missense_Mutation	SNP	G	G	A	rs551668115		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:205904837G>A	ENST00000367135.3	-	2	225	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	SLC26A9_ENST00000367134.2_Missense_Mutation_p.R38C|RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000340781.4_Missense_Mutation_p.R38C	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	38					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)	p.R38C(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AAGGCATTGCGAAGTTTCTCT	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21305	0.0		0.0	False		,,,				2504	0.0					uc001hdq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(112-114)CGC>TGC		solute carrier family 26, member 9 isoform a							228.0	198.0	208.0					1																	205904837		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205904837G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.112C>T	1.37:g.205904837G>A	ENSP00000356103:p.Arg38Cys					SLC26A9_uc001hdp.2_Missense_Mutation_p.R38C	p.R38C	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		2	226	-	Breast(84;0.201)		38					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.112C>T	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.549593	0.45383	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.93604	-3.25;-3.21;-3.25	5.45	2.49	0.30216	.	0.369254	0.23912	N	0.043340	D	0.86066	0.5844	L	0.29908	0.895	0.37524	D	0.917668	B;B	0.13594	0.004;0.008	B;B	0.06405	0.001;0.002	T	0.79869	-0.1621	10	0.51188	T	0.08	.	5.0215	0.14363	0.1629:0.0:0.3886:0.4485	.	38;38	Q7LBE3;B1AVM8	S26A9_HUMAN;.	C	38	ENSP00000341682:R38C;ENSP00000356103:R38C;ENSP00000356102:R38C	ENSP00000341682:R38C	R	-	1	0	SLC26A9	204171460	0.977000	0.34250	0.963000	0.40424	0.997000	0.91878	3.194000	0.51005	0.647000	0.30713	0.655000	0.94253	CGC		0.552	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		50	152	0	0	0	0	50	152				
LYST	1130	broad.mit.edu	37	1	235915445	235915445	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:235915445A>G	ENST00000389794.3	-	27	7661	c.7487T>C	c.(7486-7488)cTt>cCt	p.L2496P	LYST_ENST00000389793.2_Missense_Mutation_p.L2496P			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2496					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATCACAAGCAAGCAATTTATA	0.313																																						uc001hxj.2		NA																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(7486-7488)CTT>CCT		lysosomal trafficking regulator							53.0	50.0	51.0					1																	235915445		2203	4298	6501	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235915445A>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7487T>C	1.37:g.235915445A>G	ENSP00000374444:p.Leu2496Pro					LYST_uc009xga.1_Missense_Mutation_p.L78P	p.L2496P	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		27	7662	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2496					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.7487T>C	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094391	0.76870	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.74002	-0.8;-0.8	5.23	5.23	0.72850	.	0.125415	0.53938	D	0.000056	D	0.85044	0.5607	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86008	0.1499	10	0.52906	T	0.07	.	15.4457	0.75228	1.0:0.0:0.0:0.0	.	2496	Q99698	LYST_HUMAN	P	2496	ENSP00000374444:L2496P;ENSP00000374443:L2496P	ENSP00000374443:L2496P	L	-	2	0	LYST	233982068	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	8.525000	0.90583	2.107000	0.64212	0.533000	0.62120	CTT		0.313	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			24	69	0	0	0	0	24	69				
DDX21	9188	broad.mit.edu	37	10	70741337	70741337	+	Splice_Site	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr10:70741337G>A	ENST00000354185.4	+	14	2180	c.2082G>A	c.(2080-2082)caG>caA	p.Q694Q		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	694					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGAAATACAGGTATTCTTTT	0.328																																						uc001jov.1		NA																	0				ovary(2)|kidney(1)	3						c.(2080-2082)CAG>CAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 21							165.0	151.0	156.0					10																	70741337		2203	4300	6503	SO:0001630	splice_region_variant	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70741337G>A	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.2082+1G>A	10.37:g.70741337G>A						DDX21_uc001jow.1_Silent_p.Q626Q	p.Q694Q	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN			14	2172	+			694					B2RDL0|Q13436|Q5VX41|Q68D35	Silent	SNP	ENST00000354185.4	37	c.2082G>A	CCDS31211.1																																																																																				0.328	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728	Silent	4	130	0	0	0	0	4	130				
RBMXL2	27288	broad.mit.edu	37	11	7110534	7110534	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:7110534C>T	ENST00000306904.5	+	1	370	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	61	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCCCGCAGACGCCAAGGCCG	0.617																																						uc001mfc.2		NA																	0					0						c.(181-183)GAC>GAT		testes-specific heterogenous nuclear							26.0	25.0	25.0					11																	7110534		2196	4296	6492	SO:0001819	synonymous_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7110534C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.183C>T	11.37:g.7110534C>T							p.D61D	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	370	+			61			RRM.		Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	37	c.183C>T	CCDS7777.1																																																																																				0.617	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		4	28	0	0	0	0	4	28				
PAMR1	25891	broad.mit.edu	37	11	35513609	35513609	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:35513609G>A	ENST00000378880.2	-	3	808	c.363C>T	c.(361-363)taC>taT	p.Y121Y	PAMR1_ENST00000532848.1_Silent_p.Y81Y|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Silent_p.Y121Y|PAMR1_ENST00000278360.3_Silent_p.Y121Y	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	121						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.Y121Y(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGTCTCCTCCGTACCAGCCTG	0.493																																						uc001mwg.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(361-363)TAC>TAT		regeneration associated muscle protease isoform							174.0	163.0	167.0					11																	35513609		2202	4298	6500	SO:0001819	synonymous_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513609G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.363C>T	11.37:g.35513609G>A						PAMR1_uc001mwf.2_Silent_p.Y121Y|PAMR1_uc010rew.1_Silent_p.Y121Y|PAMR1_uc010rex.1_Silent_p.Y81Y	p.Y121Y	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			3	406	-			121					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	c.363C>T	CCDS31460.1																																																																																				0.493	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		57	191	0	0	0	0	57	191				
OR5A2	219981	broad.mit.edu	37	11	59189802	59189802	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:59189802T>C	ENST00000302040.4	-	1	647	c.625A>G	c.(625-627)Ata>Gta	p.I209V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ACAGACACTATTCCAACGACA	0.498																																						uc010rkt.1		NA																	0					0						c.(625-627)ATA>GTA		olfactory receptor, family 5, subfamily A,							125.0	104.0	111.0					11																	59189802		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189802T>C	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.625A>G	11.37:g.59189802T>C	ENSP00000303834:p.Ile209Val						p.I209V	NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN			1	625	-			209			Helical; Name=5; (Potential).		B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.625A>G	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	T	1.005	-0.689848	0.03328	.	.	ENSG00000172324	ENST00000302040	T	0.36520	1.25	5.29	-1.72	0.08107	GPCR, rhodopsin-like superfamily (1);	0.654024	0.12309	N	0.480351	T	0.12475	0.0303	N	0.04994	-0.135	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.32877	-0.9890	10	0.08381	T	0.77	.	5.017	0.14341	0.1656:0.2472:0.0:0.5872	.	209	Q8NGI9	OR5A2_HUMAN	V	209	ENSP00000303834:I209V	ENSP00000303834:I209V	I	-	1	0	OR5A2	58946378	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.267000	0.02839	-0.120000	0.11809	-0.472000	0.04984	ATA		0.498	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		14	75	0	0	0	0	14	75				
ATL3	25923	broad.mit.edu	37	11	63403702	63403702	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:63403702G>A	ENST00000398868.3	-	9	1231	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	ATL3_ENST00000538786.1_Missense_Mutation_p.R301W|ATL3_ENST00000332645.4_Missense_Mutation_p.R346W|RP11-697H9.2_ENST00000540307.1_RNA	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	319					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AGTAGTCCCCGACAGGTGACC	0.358											OREG0021036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001nxk.1		NA																	0				pancreas(1)	1						c.(955-957)CGG>TGG		atlastin 3							124.0	116.0	119.0					11																	63403702		1830	4083	5913	SO:0001583	missense	25923				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr11:63403702G>A		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.955C>T	11.37:g.63403702G>A	ENSP00000381844:p.Arg319Trp		OREG0021036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1068	ATL3_uc010rms.1_Missense_Mutation_p.R301W|ATL3_uc010rmr.1_5'Flank	p.R319W	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN			9	1231	-			319			Cytoplasmic.		Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	ENST00000398868.3	37	c.955C>T	CCDS41663.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941095	0.53079	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	T;T;T	0.57107	0.42;0.42;0.42	5.55	3.55	0.40652	Guanylate-binding protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.72748	0.3499	M	0.90814	3.15	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.75204	-0.3400	10	0.87932	D	0	-15.1796	6.5817	0.22598	0.0859:0.0:0.6404:0.2737	.	319	Q6DD88	ATLA3_HUMAN	W	319;346;301	ENSP00000381844:R319W;ENSP00000329034:R346W;ENSP00000437593:R301W	ENSP00000329034:R346W	R	-	1	2	ATL3	63160278	1.000000	0.71417	0.997000	0.53966	0.603000	0.37013	1.727000	0.38095	1.477000	0.48234	0.563000	0.77884	CGG		0.358	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459		45	186	0	0	0	0	45	186				
NAALADL1	10004	broad.mit.edu	37	11	64825682	64825682	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:64825682C>T	ENST00000358658.3	-	2	253	c.226G>A	c.(226-228)Gat>Aat	p.D76N	NAALADL1_ENST00000340252.4_Missense_Mutation_p.D76N|NAALADL1_ENST00000355721.3_Missense_Mutation_p.D76N|NAALADL1_ENST00000356632.3_Missense_Mutation_p.D76N|NAALADL1_ENST00000339885.2_Missense_Mutation_p.D76N|NAALADL1_ENST00000355369.2_Missense_Mutation_p.D76N	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						AGGTCCTCATCCCGAGGGCTG	0.677																																						uc001ocn.2		NA																	0					0						c.(226-228)GAT>AAT		N-acetylated alpha-linked acidic							21.0	20.0	21.0					11																	64825682		2200	4296	6496	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64825682C>T	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.226G>A	11.37:g.64825682C>T	ENSP00000351484:p.Asp76Asn					NAALADL1_uc010rnw.1_5'UTR	p.D76N	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			2	242	-			76			Extracellular (Potential).		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.226G>A	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	C	9.278	1.047500	0.19827	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	L	0.39467	1.215	0.54753	D	0.999989	B	0.28713	0.22	B	0.21360	0.034	T	0.10200	-1.0640	10	0.02654	T	1	-28.455	14.4846	0.67609	0.0:1.0:0.0:0.0	.	76	Q9UQQ1	NALDL_HUMAN	N	76	ENSP00000351484:D76N;ENSP00000347530:D76N;ENSP00000340111:D76N;ENSP00000344244:D76N;ENSP00000347955:D76N;ENSP00000349045:D76N	ENSP00000340111:D76N	D	-	1	0	NAALADL1	64582258	1.000000	0.71417	0.210000	0.23637	0.301000	0.27625	6.215000	0.72206	2.294000	0.77228	0.561000	0.74099	GAT		0.677	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		14	42	0	0	0	0	14	42				
NPAS4	266743	broad.mit.edu	37	11	66190251	66190251	+	Silent	SNP	A	A	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:66190251A>T	ENST00000311034.2	+	4	713	c.537A>T	c.(535-537)ggA>ggT	p.G179G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	179					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACCCACCTGGAGCCTACTGGG	0.632																																						uc001ohx.1		NA																	0					0						c.(535-537)GGA>GGT		neuronal PAS domain protein 4							107.0	104.0	105.0					11																	66190251		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66190251A>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.537A>T	11.37:g.66190251A>T						NPAS4_uc010rpc.1_Missense_Mutation_p.E6V	p.G179G	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			4	713	+			179					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.537A>T	CCDS8138.1																																																																																				0.632	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		44	181	0	0	0	0	44	181				
DLG2	1740	broad.mit.edu	37	11	84245683	84245683	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:84245683G>A	ENST00000532653.1	-	2	436	c.134C>T	c.(133-135)tCa>tTa	p.S45L	DLG2_ENST00000524982.1_Missense_Mutation_p.S45L|DLG2_ENST00000543673.1_Missense_Mutation_p.S150L|DLG2_ENST00000398309.2_Missense_Mutation_p.S45L|DLG2_ENST00000376104.2_Missense_Mutation_p.S150L			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTTCTTTTCTGATACATGCAC	0.418																																						uc001paj.2		NA																	0				ovary(3)|pancreas(2)|skin(1)	6						c.(133-135)TCA>TTA		chapsyn-110 isoform 2							182.0	170.0	174.0					11																	84245683		1872	4110	5982	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:84245683G>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.134C>T	11.37:g.84245683G>A	ENSP00000435849:p.Ser45Leu					DLG2_uc010rsz.1_Missense_Mutation_p.S45L|DLG2_uc010rta.1_Missense_Mutation_p.S45L|DLG2_uc001pak.2_Missense_Mutation_p.S150L|DLG2_uc001pal.1_Missense_Mutation_p.S45L	p.S45L	NM_001364	NP_001355	Q15700	DLG2_HUMAN			2	437	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	45					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.134C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.778800	0.96929	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000527088	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.88	5.88	0.94601	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.000000	0.46442	D	0.000294	T	0.69717	0.3142	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.59357	0.985;0.975;0.981;0.975	D;P;D;P	0.72338	0.977;0.904;0.962;0.843	T	0.66614	-0.5879	9	.	.	.	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	45;45;150;45	B7Z2T4;E9PN83;Q15700-2;Q15700	.;.;.;DLG2_HUMAN	L	45;150;150;45;45;150;66	ENSP00000381355:S45L;ENSP00000365272:S150L;ENSP00000441994:S150L;ENSP00000432894:S45L;ENSP00000435849:S45L;ENSP00000435809:S66L	.	S	-	2	0	DLG2	83923331	1.000000	0.71417	0.973000	0.42090	0.996000	0.88848	9.270000	0.95690	2.778000	0.95560	0.655000	0.94253	TCA		0.418	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		44	245	0	0	0	0	44	245				
FAT3	120114	broad.mit.edu	37	11	92534195	92534195	+	Silent	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:92534195A>G	ENST00000298047.6	+	9	8033	c.8016A>G	c.(8014-8016)acA>acG	p.T2672T	FAT3_ENST00000409404.2_Silent_p.T2672T|FAT3_ENST00000525166.1_Silent_p.T2522T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2672	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAAAATACAGTGCTTTCGT	0.483										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(8014-8016)ACA>ACG		FAT tumor suppressor homolog 3							45.0	42.0	43.0					11																	92534195		1899	4121	6020	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534195A>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8016A>G	11.37:g.92534195A>G		TCGA Ovarian(4;0.039)					p.T2672T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	8033	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2672			Cadherin 24.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.8016A>G																																																																																					0.483	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	43	0	0	0	0	6	43				
KDM4D	55693	broad.mit.edu	37	11	94731017	94731017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:94731017C>T	ENST00000335080.5	+	3	1313	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	KDM4D_ENST00000536741.1_Nonsense_Mutation_p.Q161*	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	161	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGGAACAATTCAGGACCTGCT	0.448																																						uc001pfe.2		NA																	0					0						c.(481-483)CAG>TAG		jumonji domain containing 2D							106.0	105.0	105.0					11																	94731017		2201	4298	6499	SO:0001587	stop_gained	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731017C>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.481C>T	11.37:g.94731017C>T	ENSP00000334181:p.Gln161*						p.Q161*	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	1313	+			161			JmjC.		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Nonsense_Mutation	SNP	ENST00000335080.5	37	c.481C>T	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	C	39	7.374573	0.98245	.	.	ENSG00000186280	ENST00000335080	.	.	.	3.91	3.01	0.34805	.	0.227417	0.29822	U	0.011111	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-15.0965	9.8466	0.41030	0.0:0.8976:0.0:0.1024	.	.	.	.	X	161	.	ENSP00000334181:Q161X	Q	+	1	0	KDM4D	94370665	0.080000	0.21391	0.822000	0.32727	0.598000	0.36846	0.823000	0.27366	1.243000	0.43853	-0.251000	0.11542	CAG		0.448	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		32	93	0	0	0	0	32	93				
ATM	472	broad.mit.edu	37	11	108143452	108143452	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:108143452G>A	ENST00000452508.2	+	23	3346	c.3157G>A	c.(3157-3159)Gat>Aat	p.D1053N	ATM_ENST00000278616.4_Missense_Mutation_p.D1053N			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1053					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CCCGTAGGCTGATCCTTATTC	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(3157-3159)GAT>AAT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							88.0	84.0	85.0					11																	108143452		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108143452G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3157G>A	11.37:g.108143452G>A	ENSP00000388058:p.Asp1053Asn	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.D1053N	p.D1053N	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	22	3542	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1053					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.3157G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161895	0.78226	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.72835	-0.69;-0.69;-0.69	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83266	0.5217	M	0.71581	2.175	0.47407	D	0.99941	D	0.89917	1.0	D	0.91635	0.999	T	0.77950	-0.2395	10	0.20519	T	0.43	.	20.0499	0.97621	0.0:0.0:1.0:0.0	.	1053	Q13315	ATM_HUMAN	N	1053	ENSP00000435747:D1053N;ENSP00000278616:D1053N;ENSP00000388058:D1053N	ENSP00000278616:D1053N	D	+	1	0	ATM	107648662	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	7.958000	0.87877	2.798000	0.96311	0.655000	0.94253	GAT		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		21	78	0	0	0	0	21	78				
DSCAML1	57453	broad.mit.edu	37	11	117302401	117302401	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:117302401C>T	ENST00000321322.6	-	31	5404	c.5403G>A	c.(5401-5403)cgG>cgA	p.R1801R	DSCAML1_ENST00000527706.1_Silent_p.R1531R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1741					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGTACCGGTTCCGGGTGCTGT	0.612																																						uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(5401-5403)CGG>CGA		Down syndrome cell adhesion molecule like 1							145.0	138.0	140.0					11																	117302401		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117302401C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5403G>A	11.37:g.117302401C>T							p.R1801R	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	31	5405	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1741			Cytoplasmic (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.5403G>A	CCDS8384.1																																																																																				0.612	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		48	130	0	0	0	0	48	130				
KCNA1	3736	broad.mit.edu	37	12	5021875	5021875	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:5021875G>A	ENST00000382545.3	+	2	2438	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	444					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.R444H(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CTCAGTCGCCGCAGTTCCTCT	0.468																																						uc001qnh.2		NA																	1	Substitution - Missense(1)		NS(1)	ovary(1)|skin(1)	2						c.(1330-1332)CGC>CAC		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						200.0	197.0	198.0					12																	5021875		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021875G>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1331G>A	12.37:g.5021875G>A	ENSP00000371985:p.Arg444His						p.R444H	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	2436	+			444					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.1331G>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218385	0.58560	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96491	-4.03	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.94670	0.8281	L	0.49126	1.545	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	D	0.90960	0.4812	10	0.56958	D	0.05	.	18.5892	0.91202	0.0:0.0:1.0:0.0	.	444	Q09470	KCNA1_HUMAN	H	444	ENSP00000371985:R444H	ENSP00000228858:R444H	R	+	2	0	KCNA1	4892136	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	CGC		0.468	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		80	320	0	0	0	0	80	320				
VWF	7450	broad.mit.edu	37	12	6173440	6173440	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:6173440G>A	ENST00000261405.5	-	12	1658	c.1404C>T	c.(1402-1404)ggC>ggT	p.G468G		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	468	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGACGTCCTGGCCATCCATGG	0.632																																						uc001qnn.1		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(1402-1404)GGC>GGT		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						103.0	69.0	81.0					12																	6173440		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6173440G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1404C>T	12.37:g.6173440G>A						VWF_uc010set.1_Silent_p.G468G	p.G468G	NM_000552	NP_000543	P04275	VWF_HUMAN			12	1654	-			468			VWFD 2.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.1404C>T	CCDS8539.1																																																																																				0.632	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		17	70	0	0	0	0	17	70				
CD27	939	broad.mit.edu	37	12	6554350	6554350	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:6554350G>A	ENST00000266557.3	+	1	318	c.89G>A	c.(88-90)aGg>aAg	p.R30K	CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	30					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TGCCCAGAGAGGCACTACTGG	0.637																																						uc001qod.2		NA																	0					0						c.(88-90)AGG>AAG		tumor necrosis factor receptor superfamily,							26.0	28.0	28.0					12																	6554350		2203	4300	6503	SO:0001583	missense	939				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity	g.chr12:6554350G>A	M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11922	protein-coding gene	gene with protein product		186711	"""tumor necrosis factor receptor superfamily, member 7"""	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.89G>A	12.37:g.6554350G>A	ENSP00000266557:p.Arg30Lys					LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_Intron|CD27_uc001qoe.2_5'Flank	p.R30K	NM_001242	NP_001233	P26842	CD27_HUMAN			1	300	+			30			Extracellular (Potential).|TNFR-Cys 1.		B2RDZ0	Missense_Mutation	SNP	ENST00000266557.3	37	c.89G>A	CCDS8545.1	.	.	.	.	.	.	.	.	.	.	G	8.648	0.897677	0.17686	.	.	ENSG00000139193	ENST00000266557	D	0.90900	-2.75	4.91	-1.55	0.08558	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.898303	0.09385	N	0.809428	T	0.71187	0.3310	N	0.02247	-0.625	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.61540	-0.7042	10	0.02654	T	1	-3.2953	8.6128	0.33813	0.5318:0.0:0.4682:0.0	.	30	P26842	CD27_HUMAN	K	30	ENSP00000266557:R30K	ENSP00000266557:R30K	R	+	2	0	CD27	6424611	0.000000	0.05858	0.093000	0.20910	0.802000	0.45316	-0.106000	0.10890	-0.143000	0.11334	0.557000	0.71058	AGG		0.637	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399258.1			11	35	0	0	0	0	11	35				
GPR162	27239	broad.mit.edu	37	12	6939120	6939120	+	IGR	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:6939120G>A	ENST00000311268.3	+	0	2768				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						AAGTACAGACGAATGTCGGGA	0.592																																						uc001qra.1		NA																	0					0						c.(595-597)CGA>CAA		leprecan-like 2 precursor	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						70.0	76.0	74.0					12																	6939120		2011	4173	6184	SO:0001628	intergenic_variant	10536				negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr12:6939120G>A	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538			12.37:g.6939120G>A						LEPREL2_uc001qqz.1_Missense_Mutation_p.R6Q|LEPREL2_uc001qrb.1_Missense_Mutation_p.R6Q|GPR162_uc001qqy.1_Missense_Mutation_p.R134Q	p.R199Q	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN			4	630	+			199					Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	c.596G>A	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661516	0.88154	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.52295	0.67;0.67	4.85	4.85	0.62838	.	0.088440	0.64402	D	0.000011	T	0.62171	0.2406	.	.	.	0.25521	N	0.987365	D;D	0.89917	1.0;0.999	D;P	0.63957	0.92;0.792	T	0.55749	-0.8092	9	0.45353	T	0.12	-16.1036	13.8485	0.63481	0.0:0.153:0.847:0.0	.	199;222	Q8IVL6;Q13513	P3H3_HUMAN;.	Q	198;14	ENSP00000379951:R198Q;ENSP00000290510:R14Q	ENSP00000290510:R14Q	R	+	2	0	LEPREL2	6809381	0.999000	0.42202	0.061000	0.19648	0.964000	0.63967	5.793000	0.69060	2.515000	0.84797	0.491000	0.48974	CGA		0.592	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		40	149	0	0	0	0	40	149				
GNB3	2784	broad.mit.edu	37	12	6952179	6952179	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:6952179C>T	ENST00000229264.3	+	5	547	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	GNB3_ENST00000435982.2_Missense_Mutation_p.R48W|CDCA3_ENST00000604599.1_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	48					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GATGCGGACGCGGCGGACGTT	0.597																																						uc001qrd.2		NA																	0					0						c.(142-144)CGG>TGG		guanine nucleotide-binding protein, beta-3							110.0	91.0	97.0					12																	6952179		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952179C>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.142C>T	12.37:g.6952179C>T	ENSP00000229264:p.Arg48Trp					GNB3_uc001qrc.2_Missense_Mutation_p.R4W|GNB3_uc009zfe.2_Missense_Mutation_p.R48W	p.R48W	NM_002075	NP_002066	P16520	GBB3_HUMAN			5	547	+			48					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.142C>T	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058274	0.76074	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.01347	4.99;4.99;4.99;4.99	5.26	2.3	0.28687	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.06554	0.0168	M	0.64260	1.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01697	-1.1293	10	0.87932	D	0	-11.9777	13.8349	0.63404	0.5316:0.4684:0.0:0.0	.	48;48	E9PCP0;P16520	.;GBB3_HUMAN	W	48	ENSP00000229264:R48W;ENSP00000442002:R48W;ENSP00000414734:R48W;ENSP00000445967:R48W	ENSP00000229264:R48W	R	+	1	2	GNB3	6822440	0.949000	0.32298	0.909000	0.35828	0.975000	0.68041	2.131000	0.42074	0.172000	0.19760	0.491000	0.48974	CGG		0.597	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		5	72	0	0	0	0	5	72				
BICD1	636	broad.mit.edu	37	12	32446959	32446959	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:32446959G>A	ENST00000281474.5	+	3	561	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	BICD1_ENST00000548411.1_Missense_Mutation_p.R153Q	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	153					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CAGAGAATACGGATGAAGGAT	0.388																																						uc001rku.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(457-459)CGG>CAG		bicaudal D homolog 1 isoform 1							70.0	71.0	70.0					12																	32446959		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32446959G>A	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.458G>A	12.37:g.32446959G>A	ENSP00000281474:p.Arg153Gln					BICD1_uc001rkv.2_Missense_Mutation_p.R153Q|BICD1_uc010skd.1_RNA	p.R153Q	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		3	539	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		153			Potential.		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.458G>A	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113457	0.94339	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.52057	0.68;0.68	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.59756	0.2217	L	0.41415	1.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.49995	-0.8879	10	0.17369	T	0.5	.	18.7935	0.91983	0.0:0.0:1.0:0.0	.	153;153	F8W113;Q96G01	.;BICD1_HUMAN	Q	153	ENSP00000446793:R153Q;ENSP00000281474:R153Q	ENSP00000281474:R153Q	R	+	2	0	BICD1	32338226	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.305000	0.96197	2.663000	0.90544	0.555000	0.69702	CGG		0.388	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		3	56	0	0	0	0	3	56				
RAB3IP	117177	broad.mit.edu	37	12	70149312	70149312	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:70149312C>T	ENST00000247833.7	+	2	500	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	RAB3IP_ENST00000483530.2_Missense_Mutation_p.R42W|RAB3IP_ENST00000550536.1_Missense_Mutation_p.R58W|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Missense_Mutation_p.R42W|RAB3IP_ENST00000362025.5_Missense_Mutation_p.R58W					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TGTCATCTACCGGCCACACCC	0.468																																						uc001svp.2		NA																	0				ovary(1)	1						c.(172-174)CGG>TGG		RAB3A interacting protein isoform alpha 2							186.0	162.0	170.0					12																	70149312		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70149312C>T		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.124C>T	12.37:g.70149312C>T	ENSP00000247833:p.Arg42Trp					RAB3IP_uc001svl.1_Missense_Mutation_p.R42W|RAB3IP_uc001svm.2_Missense_Mutation_p.R42W|RAB3IP_uc001svn.2_Missense_Mutation_p.R42W|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Missense_Mutation_p.R58W|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA	p.R58W	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		2	619	+	Esophageal squamous(21;0.187)		58						Missense_Mutation	SNP	ENST00000247833.7	37	c.172C>T	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533387	0.85812	.	.	ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025	T;T	0.62498	0.07;0.02	5.93	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.993;0.999;0.999	T	0.75196	-0.3403	10	0.72032	D	0.01	.	16.6751	0.85276	0.1307:0.8693:0.0:0.0	.	58;58;42;42	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.;RAB3I_HUMAN;.;.	W	42;42;42;42;58;58	ENSP00000247833:R42W;ENSP00000447300:R58W	ENSP00000247833:R42W	R	+	1	2	RAB3IP	68435579	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.603000	0.46266	1.514000	0.48869	0.655000	0.94253	CGG		0.468	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		31	106	0	0	0	0	31	106				
SYT1	6857	broad.mit.edu	37	12	79611355	79611355	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:79611355C>T	ENST00000261205.4	+	4	713	c.56C>T	c.(55-57)gCg>gTg	p.A19V	SYT1_ENST00000393240.3_Missense_Mutation_p.A19V|SYT1_ENST00000457153.2_Missense_Mutation_p.A19V|SYT1_ENST00000552744.1_Missense_Mutation_p.A19V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	19					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACCACTGTCGCGACTGTTCTG	0.527																																						uc001sys.2		NA																	0				skin(3)|pancreas(2)|ovary(1)	6						c.(55-57)GCG>GTG		synaptotagmin I							56.0	56.0	56.0					12																	79611355		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79611355C>T		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.56C>T	12.37:g.79611355C>T	ENSP00000261205:p.Ala19Val					SYT1_uc001syt.2_Missense_Mutation_p.A19V|SYT1_uc001syu.2_Missense_Mutation_p.A19V|SYT1_uc001syv.2_Missense_Mutation_p.A19V	p.A19V	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			5	727	+			19			Vesicular (Potential).		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.56C>T	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903371	0.52333	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T	0.60424	0.2;0.2;0.19;0.2;1.85;2.43	5.51	4.62	0.57501	.	0.303302	0.37095	N	0.002258	T	0.51686	0.1689	L	0.58101	1.795	0.54753	D	0.999986	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.47058	-0.9146	10	0.30078	T	0.28	.	11.4254	0.50007	0.0:0.8545:0.0:0.1455	.	19;19	Q6AI31;P21579	.;SYT1_HUMAN	V	19	ENSP00000376932:A19V;ENSP00000261205:A19V;ENSP00000391056:A19V;ENSP00000447575:A19V;ENSP00000448861:A19V;ENSP00000401559:A19V	ENSP00000261205:A19V	A	+	2	0	SYT1	78135486	0.948000	0.32251	0.059000	0.19551	0.141000	0.21300	4.276000	0.58933	1.321000	0.45227	0.643000	0.83706	GCG		0.527	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		17	53	0	0	0	0	17	53				
PPFIA2	8499	broad.mit.edu	37	12	81657105	81657105	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:81657105T>C	ENST00000549396.1	-	31	3780	c.3620A>G	c.(3619-3621)cAt>cGt	p.H1207R	PPFIA2_ENST00000549325.1_Missense_Mutation_p.H1192R|PPFIA2_ENST00000552948.1_Missense_Mutation_p.H1186R|PPFIA2_ENST00000550584.2_Missense_Mutation_p.H1207R|PPFIA2_ENST00000541570.2_Missense_Mutation_p.H743R|PPFIA2_ENST00000541017.1_Missense_Mutation_p.H393R|PPFIA2_ENST00000333447.7_Missense_Mutation_p.H1195R|PPFIA2_ENST00000548586.1_Missense_Mutation_p.H1201R|PPFIA2_ENST00000443686.3_Missense_Mutation_p.H1102R|PPFIA2_ENST00000550359.2_Missense_Mutation_p.H1054R|PPFIA2_ENST00000407050.4_Missense_Mutation_p.H1106R|PPFIA2_ENST00000545296.2_Intron	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1207					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCTGATTCCATGTACTTCACG	0.443																																						uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(3619-3621)CAT>CGT		PTPRF interacting protein alpha 2							130.0	125.0	126.0					12																	81657105		1975	4156	6131	SO:0001583	missense	8499							g.chr12:81657105T>C	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3620A>G	12.37:g.81657105T>C	ENSP00000450337:p.His1207Arg					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.H1207R	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			31	3781	-			1106					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.3620A>G	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	1.869	-0.460611	0.04508	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.27104	2.45;2.46;2.13;1.69;2.14;2.46;2.45;2.13;2.45	5.14	5.14	0.70334	.	0.056069	0.64402	D	0.000001	T	0.10637	0.0260	N	0.11284	0.12	0.51482	D	0.999928	P	0.39391	0.671	B	0.29785	0.107	T	0.12553	-1.0543	10	0.02654	T	1	-15.874	14.9488	0.71054	0.0:0.0:0.0:1.0	.	1207	O75334	LIPA2_HUMAN	R	1207;1192;743;393;1106;1220;1195;1201;1102;1186	ENSP00000450337:H1207R;ENSP00000450298:H1192R;ENSP00000438337:H743R;ENSP00000445532:H393R;ENSP00000385093:H1106R;ENSP00000327416:H1195R;ENSP00000449338:H1201R;ENSP00000388373:H1102R;ENSP00000447868:H1186R	ENSP00000327416:H1195R	H	-	2	0	PPFIA2	80181236	1.000000	0.71417	0.980000	0.43619	0.944000	0.59088	4.981000	0.63819	1.946000	0.56461	0.477000	0.44152	CAT		0.443	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			33	56	0	0	0	0	33	56				
EP400	57634	broad.mit.edu	37	12	132546772	132546772	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:132546772C>T	ENST00000333577.4	+	47	8219	c.8110C>T	c.(8110-8112)Cga>Tga	p.R2704*	EP400_ENST00000389562.2_Nonsense_Mutation_p.R2667*|EP400_ENST00000332482.4_Nonsense_Mutation_p.R2631*|EP400_ENST00000389561.2_Nonsense_Mutation_p.R2668*|EP400_ENST00000330386.6_Nonsense_Mutation_p.R2587*			Q96L91	EP400_HUMAN	E1A binding protein p400	2704	Interaction with ZNF42. {ECO:0000250}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCAGGGTGTTCGAGCGGTCAC	0.667																																						uc001ujn.2		NA																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(8002-8004)CGA>TGA		E1A binding protein p400							53.0	54.0	54.0					12																	132546772		2203	4300	6503	SO:0001587	stop_gained	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132546772C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8110C>T	12.37:g.132546772C>T	ENSP00000333602:p.Arg2704*					EP400_uc001ujl.2_Nonsense_Mutation_p.R2667*|EP400_uc001ujm.2_Nonsense_Mutation_p.R2587*|EP400_uc001ujp.2_5'Flank	p.R2668*	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	45	8037	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2704			Interaction with ZNF42 (By similarity).		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_Mutation	SNP	ENST00000333577.4	37	c.8002C>T		.	.	.	.	.	.	.	.	.	.	C	50	16.255444	0.99858	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	.	.	.	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8565	0.88765	0.0:1.0:0.0:0.0	.	.	.	.	X	2704;2668;2667;2631;2587;2668	.	ENSP00000330620:R2587X	R	+	1	2	EP400	131112725	0.995000	0.38212	0.908000	0.35775	0.703000	0.40648	3.252000	0.51461	2.212000	0.71576	0.561000	0.74099	CGA		0.667	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		28	109	0	0	0	0	28	109				
WASF3	10810	broad.mit.edu	37	13	27216530	27216530	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr13:27216530G>A	ENST00000335327.5	+	3	301	c.123G>A	c.(121-123)ctG>ctA	p.L41L	WASF3_ENST00000361042.4_Silent_p.L41L|WASF3-AS1_ENST00000586418.1_RNA|WASF3-AS1_ENST00000585599.1_RNA|WASF3-AS1_ENST00000413063.1_RNA|WASF3_ENST00000496788.1_3'UTR	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	41					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TACGCCAGCTGAGCAGTCTGA	0.418																																						uc001uqv.2		NA																	0				pancreas(1)	1						c.(121-123)CTG>CTA		WAS protein family, member 3							141.0	136.0	138.0					13																	27216530		2203	4300	6503	SO:0001819	synonymous_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27216530G>A	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.123G>A	13.37:g.27216530G>A						WASF3_uc001uqw.2_Silent_p.L41L	p.L41L	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	3	348	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	41					O94974|Q86VQ2	Silent	SNP	ENST00000335327.5	37	c.123G>A	CCDS9318.1																																																																																				0.418	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			7	217	0	0	0	0	7	217				
AKAP11	11215	broad.mit.edu	37	13	42876708	42876708	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr13:42876708A>G	ENST00000025301.2	+	8	4001	c.3826A>G	c.(3826-3828)Aaa>Gaa	p.K1276E		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1276					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAAAATAGCAAAAGTCCGAAA	0.373																																						uc001uys.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3826-3828)AAA>GAA		A-kinase anchor protein 11							71.0	73.0	72.0					13																	42876708		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876708A>G	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3826A>G	13.37:g.42876708A>G	ENSP00000025301:p.Lys1276Glu						p.K1276E	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4001	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1276					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.3826A>G	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.976313	0.34848	.	.	ENSG00000023516	ENST00000025301	T	0.52295	0.67	5.61	5.61	0.85477	.	0.277829	0.31167	N	0.008130	T	0.41328	0.1154	L	0.50333	1.59	0.26310	N	0.977832	P	0.46142	0.873	B	0.41412	0.356	T	0.40961	-0.9535	10	0.29301	T	0.29	.	10.187	0.43004	0.9259:0.0:0.0741:0.0	.	1276	Q9UKA4	AKA11_HUMAN	E	1276	ENSP00000025301:K1276E	ENSP00000025301:K1276E	K	+	1	0	AKAP11	41774708	1.000000	0.71417	0.986000	0.45419	0.676000	0.39594	3.460000	0.53028	2.132000	0.65825	0.533000	0.62120	AAA		0.373	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		26	95	0	0	0	0	26	95				
AKAP11	11215	broad.mit.edu	37	13	42876731	42876731	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr13:42876731C>T	ENST00000025301.2	+	8	4024	c.3849C>T	c.(3847-3849)ttC>ttT	p.F1283F		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1283					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTATGCTTTTCAAGCAAAAGA	0.383																																						uc001uys.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3847-3849)TTC>TTT		A-kinase anchor protein 11							69.0	70.0	70.0					13																	42876731		2203	4300	6503	SO:0001819	synonymous_variant	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876731C>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3849C>T	13.37:g.42876731C>T							p.F1283F	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4024	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1283					O75124|Q9NUK7	Silent	SNP	ENST00000025301.2	37	c.3849C>T	CCDS9383.1																																																																																				0.383	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		25	94	0	0	0	0	25	94				
OR4N5	390437	broad.mit.edu	37	14	20612693	20612693	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:20612693G>T	ENST00000333629.1	+	1	799	c.799G>T	c.(799-801)Gct>Tct	p.A267S	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GGCTTTCCCAGCTGACAAGGT	0.428																																						uc010tla.1		NA																	0				ovary(1)	1						c.(799-801)GCT>TCT		olfactory receptor, family 4, subfamily N,							184.0	188.0	187.0					14																	20612693		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612693G>T		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.799G>T	14.37:g.20612693G>T	ENSP00000332110:p.Ala267Ser						p.A267S	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	799	+	all_cancers(95;0.00108)		267			Extracellular (Potential).		Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.799G>T	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270249	0.40194	.	.	ENSG00000184394	ENST00000333629	T	0.00051	8.81	3.88	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000547	T	0.00178	0.0005	N	0.21324	0.655	0.31260	N	0.692988	P	0.49783	0.928	P	0.51657	0.676	T	0.69650	-0.5088	10	0.56958	D	0.05	.	11.5361	0.50639	0.0:0.0:1.0:0.0	.	267	Q8IXE1	OR4N5_HUMAN	S	267	ENSP00000332110:A267S	ENSP00000332110:A267S	A	+	1	0	OR4N5	19682533	0.001000	0.12720	0.998000	0.56505	0.376000	0.30014	0.406000	0.21032	2.158000	0.67659	0.655000	0.94253	GCT		0.428	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			106	402	1	0	1.98e-57	2.28e-57	106	402				
FAM179B	23116	broad.mit.edu	37	14	45473350	45473350	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:45473350A>T	ENST00000361577.3	+	4	2639	c.2425A>T	c.(2425-2427)Agt>Tgt	p.S809C	FAM179B_ENST00000382233.2_Missense_Mutation_p.S809C|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361462.2_Missense_Mutation_p.S809C	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	809										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCAAAATCCAAGTCCAGGAGC	0.398																																						uc001wvv.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(2425-2427)AGT>TGT		hypothetical protein LOC23116							110.0	97.0	102.0					14																	45473350		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45473350A>T	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2425A>T	14.37:g.45473350A>T	ENSP00000355045:p.Ser809Cys					FAM179B_uc001wvw.2_Missense_Mutation_p.S809C|FAM179B_uc010anc.2_RNA|FAM179B_uc001wvu.2_Missense_Mutation_p.S809C	p.S809C	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			4	2634	+			809					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.2425A>T	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.569814	0.45798	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233;ENST00000555874	T;T;T;T	0.15487	2.42;2.42;3.62;3.62	5.34	4.21	0.49690	Armadillo-type fold (1);	0.205841	0.42294	D	0.000733	T	0.13500	0.0327	N	0.24115	0.695	0.20196	N	0.999927	D;P;P	0.55800	0.973;0.933;0.933	P;P;P	0.46339	0.513;0.513;0.513	T	0.08027	-1.0742	10	0.72032	D	0.01	-4.5807	7.4349	0.27150	0.8294:0.0:0.1706:0.0	.	809;809;809	G3XAE9;Q9Y4F4;Q9Y4F4-2	.;F179B_HUMAN;.	C	809;809;809;809;128	ENSP00000355045:S809C;ENSP00000354917:S809C;ENSP00000371668:S809C;ENSP00000451141:S128C	ENSP00000354917:S809C	S	+	1	0	FAM179B	44543100	0.008000	0.16893	0.585000	0.28666	0.429000	0.31625	1.378000	0.34328	0.887000	0.36136	0.460000	0.39030	AGT		0.398	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		4	89	0	0	0	0	4	89				
TMEM30B	161291	broad.mit.edu	37	14	61746909	61746909	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:61746909G>A	ENST00000555868.1	-	1	1649	c.957C>T	c.(955-957)atC>atT	p.I319I	TMEM30B_ENST00000355702.2_Silent_p.I319I|TMEM30B_ENST00000557163.1_5'UTR	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	319					lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		CCAGGTAGGCGATGCCCAGGA	0.602																																						uc001xfl.2		NA																	0					0						c.(955-957)ATC>ATT		transmembrane protein 30B							70.0	59.0	63.0					14																	61746909		2203	4300	6503	SO:0001819	synonymous_variant	161291					integral to membrane		g.chr14:61746909G>A	AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.957C>T	14.37:g.61746909G>A						PRKCH_uc010tsa.1_Intron|TMEM30B_uc010apr.1_RNA	p.I319I	NM_001017970	NP_001017970	Q3MIR4	CC50B_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)	1	1622	-			319			Helical; (Potential).		B3KR84|Q14D00	Silent	SNP	ENST00000555868.1	37	c.957C>T	CCDS32093.1																																																																																				0.602	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413358.1	XM_090844		10	42	0	0	0	0	10	42				
SYNE2	23224	broad.mit.edu	37	14	64464044	64464044	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:64464044A>G	ENST00000344113.4	+	25	3390	c.3178A>G	c.(3178-3180)Aga>Gga	p.R1060G	SYNE2_ENST00000554584.1_Missense_Mutation_p.R1060G|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.R1060G	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1060					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)		ATCTGAGAATAGAGGAGGGGA	0.383																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(3178-3180)AGA>GGA		spectrin repeat containing, nuclear envelope 2							70.0	67.0	68.0					14																	64464044		1864	4107	5971	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.chr14:64464044A>G	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.3178A>G	14.37:g.64464044A>G	ENSP00000341781:p.Arg1060Gly					SYNE2_uc001xgl.2_Missense_Mutation_p.R1060G	p.R1060G	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)	25	3408	+			1060			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.3178A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	8.797	0.931916	0.18131	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.55930	0.87;0.87;0.49	4.89	3.96	0.45880	.	0.343330	0.21316	N	0.076543	T	0.15478	0.0373	N	0.00368	-1.59	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07158	-1.0787	10	0.12103	T	0.63	.	7.386	0.26882	0.1272:0.0:0.8728:0.0	.	1060;1060	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	G	1060	ENSP00000350719:R1060G;ENSP00000341781:R1060G;ENSP00000452570:R1060G	ENSP00000261678:R1060G	R	+	1	2	SYNE2	63533797	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	2.990000	0.49401	1.329000	0.45376	0.460000	0.39030	AGA		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		6	32	0	0	0	0	6	32				
GABRA5	2558	broad.mit.edu	37	15	27193231	27193231	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:27193231G>A	ENST00000335625.5	+	11	2128	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	GABRA5_ENST00000355395.5_Missense_Mutation_p.E414K|GABRA5_ENST00000400081.3_Missense_Mutation_p.E414K	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	414					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	GAAGACTTCTGAAAGCAAAAA	0.448																																						uc001zbd.1		NA																	0				ovary(1)	1						c.(1240-1242)GAA>AAA		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						47.0	45.0	46.0					15																	27193231		1850	4097	5947	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27193231G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1240G>A	15.37:g.27193231G>A	ENSP00000335592:p.Glu414Lys					GABRA5_uc001zbe.1_RNA	p.E414K	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	12	1579	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	414			Cytoplasmic (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.1240G>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164365	0.78339	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.85955	-2.05;-2.05;-2.05	4.66	4.66	0.58398	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.093104	0.64402	D	0.000001	D	0.85991	0.5826	L	0.48260	1.515	0.58432	D	0.999996	P	0.41978	0.767	P	0.51945	0.685	T	0.81974	-0.0687	10	0.12103	T	0.63	.	16.8882	0.86081	0.0:0.0:1.0:0.0	.	414	P31644	GBRA5_HUMAN	K	414	ENSP00000335592:E414K;ENSP00000347557:E414K;ENSP00000382953:E414K	ENSP00000335592:E414K	E	+	1	0	GABRA5	24775977	1.000000	0.71417	0.929000	0.37066	0.744000	0.42396	9.346000	0.97056	2.297000	0.77311	0.591000	0.81541	GAA		0.448	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			7	18	0	0	0	0	7	18				
GATM	2628	broad.mit.edu	37	15	45658345	45658345	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:45658345T>C	ENST00000396659.3	-	6	1216	c.877A>G	c.(877-879)Atc>Gtc	p.I293V	GATM_ENST00000558336.1_Missense_Mutation_p.I293V	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	293					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	AAGGAGATGATATGCACTCTG	0.418																																						uc001zvc.2		NA																	0					0						c.(877-879)ATC>GTC		L-arginine:glycine amidinotransferase precursor	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)						173.0	152.0	159.0					15																	45658345		2198	4298	6496	SO:0001583	missense	2628				creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	g.chr15:45658345T>C	S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.877A>G	15.37:g.45658345T>C	ENSP00000379895:p.Ile293Val					GATM_uc001zvb.2_Missense_Mutation_p.I164V|GATM_uc010uev.1_Missense_Mutation_p.I346V	p.I293V	NM_001482	NP_001473	P50440	GATM_HUMAN		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	6	1206	-		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	293					B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	ENST00000396659.3	37	c.877A>G	CCDS10122.1	.	.	.	.	.	.	.	.	.	.	T	1.696	-0.502661	0.04261	.	.	ENSG00000171766	ENST00000396659	T	0.43294	0.95	4.95	2.6	0.31112	.	0.135150	0.64402	N	0.000004	T	0.18425	0.0442	N	0.04959	-0.14	0.48087	D	0.999587	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05451	-1.0884	10	0.16896	T	0.51	-9.0844	8.0251	0.30431	0.0:0.1725:0.0:0.8275	.	293;293	P50440-3;P50440	.;GATM_HUMAN	V	293	ENSP00000379895:I293V	ENSP00000379895:I293V	I	-	1	0	GATM	43445637	0.944000	0.32072	0.855000	0.33649	0.905000	0.53344	1.104000	0.31074	0.441000	0.26529	0.533000	0.62120	ATC		0.418	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482		34	92	0	0	0	0	34	92				
CLPX	10845	broad.mit.edu	37	15	65472462	65472462	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:65472462G>A	ENST00000300107.3	-	2	348	c.160C>T	c.(160-162)Ctt>Ttt	p.L54F		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	54					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						AAGGATCTAAGAGGAGCTCTT	0.363																																						uc002aom.2		NA																	0					0						c.(160-162)CTT>TTT		ClpX caseinolytic protease X homolog precursor							102.0	105.0	104.0					15																	65472462		2202	4299	6501	SO:0001583	missense	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65472462G>A	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.160C>T	15.37:g.65472462G>A	ENSP00000300107:p.Leu54Phe					CLPX_uc010uiu.1_RNA|CLPX_uc010bhg.1_Missense_Mutation_p.L54F	p.L54F	NM_006660	NP_006651	O76031	CLPX_HUMAN			2	232	-			54					A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	c.160C>T	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500346	0.26861	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.19669	2.13	5.96	3.86	0.44501	.	0.189239	0.48286	N	0.000192	T	0.12050	0.0293	N	0.22421	0.69	0.35487	D	0.798687	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14227	-1.0480	10	0.27785	T	0.31	.	6.2552	0.20870	0.5494:0.0:0.4506:0.0	.	54;54	Q9H072;O76031	.;CLPX_HUMAN	F	54	ENSP00000300107:L54F	ENSP00000300107:L54F	L	-	1	0	CLPX	63259515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.576000	0.46033	1.291000	0.44653	0.655000	0.94253	CTT		0.363	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		32	154	0	0	0	0	32	154				
KIAA1024	23251	broad.mit.edu	37	15	79760530	79760530	+	Splice_Site	SNP	C	C	T	rs140151474	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:79760530C>T	ENST00000305428.3	+	4	2630	c.2555C>T	c.(2554-2556)aCg>aTg	p.T852M		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	852						integral component of membrane (GO:0016021)		p.T852M(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CGCTTTTAGACGCAAGAATCT	0.378													C|||	16	0.00319489	0.0023	0.0043	5008	,	,		22544	0.0		0.008	False		,,,				2504	0.002					uc002bew.1		NA																	1	Substitution - Missense(1)	p.T852M(1)	pancreas(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(2554-2556)ACG>ATG		hypothetical protein LOC23251		C	MET/THR	8,4384	14.3+/-33.2	0,8,2188	33.0	29.0	31.0		2555	5.7	0.8	15	dbSNP_134	31	43,8543	29.6+/-80.5	0,43,4250	yes	missense-near-splice	KIAA1024	NM_015206.2	81	0,51,6438	TT,TC,CC		0.5008,0.1821,0.393	probably-damaging	852/917	79760530	51,12927	2196	4293	6489	SO:0001630	splice_region_variant	23251					integral to membrane		g.chr15:79760530C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2554-1C>T	15.37:g.79760530C>T						KIAA1024_uc010unk.1_3'UTR	p.T852M	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			4	2630	+			852					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2555C>T	CCDS32306.1	10	0.004578754578754579	3	0.006097560975609756	2	0.0055248618784530384	0	0.0	5	0.006596306068601583	C	14.21	2.467414	0.43839	0.001821	0.005008	ENSG00000169330	ENST00000305428	T	0.52983	0.64	5.67	5.67	0.87782	.	0.292371	0.38436	N	0.001684	T	0.42040	0.1185	N	0.22421	0.69	0.39791	D	0.972435	P	0.52061	0.95	P	0.54401	0.751	T	0.36529	-0.9744	9	.	.	.	.	19.7863	0.96440	0.0:1.0:0.0:0.0	.	852	Q9UPX6	K1024_HUMAN	M	852	ENSP00000307461:T852M	.	T	+	2	0	KIAA1024	77547585	0.990000	0.36364	0.844000	0.33320	0.010000	0.07245	2.874000	0.48483	2.665000	0.90641	0.655000	0.94253	ACG		0.378	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206	Missense_Mutation	18	36	0	0	0	0	18	36				
NMB	4828	broad.mit.edu	37	15	85201301	85201301	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:85201301C>T	ENST00000360476.3	-	1	478	c.83G>A	c.(82-84)aGc>aAc	p.S28N	NMB_ENST00000394588.3_Missense_Mutation_p.S28N			P08949	NMB_HUMAN	neuromedin B	28					arachidonic acid secretion (GO:0050482)|cell-cell signaling (GO:0007267)|glucose homeostasis (GO:0042593)|negative regulation of hormone secretion (GO:0046888)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hormone secretion (GO:0046887)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|neuron projection (GO:0043005)	hormone activity (GO:0005179)			endometrium(1)	1				all cancers(203;3.5e-06)		GAGATCCCAGCTGAGCGGGGC	0.726																																						uc002bkz.2		NA																	0					0						c.(82-84)AGC>AAC		neuromedin B isoform 1							14.0	18.0	16.0					15																	85201301		2188	4280	6468	SO:0001583	missense	4828				cell-cell signaling|neuropeptide signaling pathway	extracellular region|soluble fraction	hormone activity	g.chr15:85201301C>T		CCDS10332.1, CCDS42076.1	15q25.2-q25.3	2013-09-19			ENSG00000197696	ENSG00000197696			7842	protein-coding gene	gene with protein product		162340				2458345	Standard	NM_021077		Approved	MGC2277, MGC3936, MGC17211	uc002bla.3	P08949	OTTHUMG00000148666	ENST00000360476.3:c.83G>A	15.37:g.85201301C>T	ENSP00000353664:p.Ser28Asn					NMB_uc002bla.2_Missense_Mutation_p.S28N	p.S28N	NM_021077	NP_066563	P08949	NMB_HUMAN		all cancers(203;3.5e-06)	1	502	-			28					Q96A06|Q96HH5	Missense_Mutation	SNP	ENST00000360476.3	37	c.83G>A	CCDS10332.1	.	.	.	.	.	.	.	.	.	.	C	8.775	0.926864	0.18056	.	.	ENSG00000197696	ENST00000360476;ENST00000394588	T;T	0.51071	0.76;0.72	4.96	0.939	0.19506	.	0.639319	0.15994	N	0.234666	T	0.24236	0.0587	N	0.17082	0.46	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.11329	0.006;0.002	T	0.21348	-1.0248	10	0.12430	T	0.62	-0.5668	5.2651	0.15595	0.0:0.5038:0.3212:0.1751	.	28;28	P08949-2;P08949	.;NMB_HUMAN	N	28	ENSP00000353664:S28N;ENSP00000378089:S28N	ENSP00000353664:S28N	S	-	2	0	NMB	83002305	0.065000	0.20965	0.032000	0.17829	0.006000	0.05464	-0.160000	0.10041	0.029000	0.15352	0.650000	0.86243	AGC		0.726	NMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308995.1	NM_021077		9	17	0	0	0	0	9	17				
RAB11FIP3	9727	broad.mit.edu	37	16	532707	532707	+	Silent	SNP	C	C	T	rs139755055	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:532707C>T	ENST00000262305.4	+	4	1474	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D	RAB11FIP3_ENST00000450428.1_Silent_p.D66D|RAB11FIP3_ENST00000457159.1_Silent_p.D362D	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	362					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AGGAGCCCGACCATGGTGCCC	0.687													C|||	5	0.000998403	0.0008	0.0014	5008	,	,		14959	0.0		0.001	False		,,,				2504	0.002				Melanoma(160;2366 2595 4474 8099)	uc002chf.2		NA																	0					0						c.(1084-1086)GAC>GAT		rab11-family interacting protein 3 isoform 1		C	,	4,4396		0,4,2196	24.0	22.0	23.0		198,1086	3.2	0.5	16	dbSNP_134	23	16,8576		0,16,4280	no	coding-synonymous,coding-synonymous	RAB11FIP3	NM_001142272.1,NM_014700.3	,	0,20,6476	TT,TC,CC		0.1862,0.0909,0.1539	,	66/461,362/757	532707	20,12972	2200	4296	6496	SO:0001819	synonymous_variant	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:532707C>T	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.1086C>T	16.37:g.532707C>T						RAB11FIP3_uc010uuf.1_Silent_p.D66D|RAB11FIP3_uc010uug.1_Silent_p.D52D	p.D362D	NM_014700	NP_055515	O75154	RFIP3_HUMAN			4	1425	+		Hepatocellular(16;0.0218)	362					B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	ENST00000262305.4	37	c.1086C>T	CCDS32351.1																																																																																				0.687	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		6	16	0	0	0	0	6	16				
MAPK8IP3	23162	broad.mit.edu	37	16	1756596	1756596	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:1756596G>A	ENST00000250894.4	+	1	413	c.256G>A	c.(256-258)Gac>Aac	p.D86N	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.D86N	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	86					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GCTGCGCGAGGACAACGAGCA	0.682																																						uc002cmk.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(256-258)GAC>AAC		mitogen-activated protein kinase 8 interacting							44.0	42.0	43.0					16																	1756596		2198	4300	6498	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1756596G>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.256G>A	16.37:g.1756596G>A	ENSP00000250894:p.Asp86Asn					MAPK8IP3_uc002cmi.1_Missense_Mutation_p.D86N|MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Missense_Mutation_p.D86N|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.D86N	p.D86N	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			1	376	+			86			Potential.		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.256G>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016771	0.75161	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.57595	0.39;0.39	3.67	3.67	0.42095	JNK/Rab-associated protein-1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74465	0.3720	M	0.85373	2.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.996	D;D;D;D	0.97110	1.0;0.999;0.999;0.987	T	0.80852	-0.1197	10	0.87932	D	0	-24.3251	15.1441	0.72637	0.0:0.0:1.0:0.0	.	86;86;86;86	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	N	86	ENSP00000250894:D86N;ENSP00000348290:D86N	ENSP00000250894:D86N	D	+	1	0	MAPK8IP3	1696597	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.256000	0.95535	1.874000	0.54306	0.185000	0.17295	GAC		0.682	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		3	13	0	0	0	0	3	13				
MGRN1	23295	broad.mit.edu	37	16	4731639	4731639	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:4731639C>T	ENST00000399577.5	+	13	1313	c.1220C>T	c.(1219-1221)tCg>tTg	p.S407L	MGRN1_ENST00000262370.7_Missense_Mutation_p.S407L|MGRN1_ENST00000588994.1_Missense_Mutation_p.S385L|MGRN1_ENST00000415496.1_Missense_Mutation_p.S386L|MGRN1_ENST00000586183.1_Missense_Mutation_p.S385L	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	407					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GCCATCCCCTCGGCCCCTCTT	0.637																																						uc002cwz.2		NA																	0				ovary(1)|skin(1)	2						c.(1219-1221)TCG>TTG		mahogunin, ring finger 1 isoform 3							38.0	43.0	42.0					16																	4731639		1967	4140	6107	SO:0001583	missense	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4731639C>T	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.1220C>T	16.37:g.4731639C>T	ENSP00000382487:p.Ser407Leu					MGRN1_uc002cxa.2_Missense_Mutation_p.S407L|MGRN1_uc010btx.2_Missense_Mutation_p.S386L|MGRN1_uc010btw.2_Missense_Mutation_p.S386L|MGRN1_uc002cxb.2_Missense_Mutation_p.S446L|MGRN1_uc010uxo.1_Missense_Mutation_p.S385L|MGRN1_uc010uxp.1_Missense_Mutation_p.S385L|MGRN1_uc010uxq.1_RNA	p.S407L	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN			13	1356	+			407	PSAP->ASAA: Loss of TSG101-binding and drastic reduction of TSG101- ubiquitination.		Required for TSG101-binding.		A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	ENST00000399577.5	37	c.1220C>T	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504735	0.85176	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496	T;T;T	0.36157	1.27;1.29;1.32	5.42	5.42	0.78866	.	0.128139	0.56097	D	0.000036	T	0.41143	0.1146	L	0.34521	1.04	0.80722	D	1	P;P;P;D;P	0.54964	0.833;0.814;0.718;0.969;0.743	P;B;B;P;B	0.52627	0.49;0.284;0.148;0.704;0.296	T	0.17992	-1.0351	10	0.49607	T	0.09	-8.5212	15.9572	0.79896	0.0:1.0:0.0:0.0	.	385;385;386;407;407	O60291-4;O60291-3;E9PB19;O60291-2;O60291	.;.;.;.;MGRN1_HUMAN	L	407;407;386	ENSP00000262370:S407L;ENSP00000382487:S407L;ENSP00000393311:S386L	ENSP00000262370:S407L	S	+	2	0	MGRN1	4671640	1.000000	0.71417	0.115000	0.21578	0.829000	0.46940	7.460000	0.80816	2.539000	0.85634	0.561000	0.74099	TCG		0.637	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			6	128	0	0	0	0	6	128				
C16orf71	146562	broad.mit.edu	37	16	4787863	4787863	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:4787863C>A	ENST00000299320.5	+	3	670	c.192C>A	c.(190-192)gaC>gaA	p.D64E	C16orf71_ENST00000590191.1_Missense_Mutation_p.D64E|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	64										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGATTCCAGACCTGTCGGAGG	0.577																																						uc002cxn.2		NA																	0				central_nervous_system(1)	1						c.(190-192)GAC>GAA		hypothetical protein LOC146562							74.0	71.0	72.0					16																	4787863		2197	4300	6497	SO:0001583	missense	146562							g.chr16:4787863C>A	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.192C>A	16.37:g.4787863C>A	ENSP00000299320:p.Asp64Glu						p.D64E	NM_139170	NP_631909	Q8IYS4	CP071_HUMAN			3	654	+			64					Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	c.192C>A	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.460213	0.63401	.	.	ENSG00000166246	ENST00000299320	T	0.13196	2.61	4.51	3.56	0.40772	.	0.000000	0.44097	D	0.000482	T	0.30479	0.0766	L	0.59436	1.845	0.26069	N	0.981245	D	0.76494	0.999	D	0.87578	0.998	T	0.02567	-1.1140	10	0.87932	D	0	-21.4743	10.3979	0.44211	0.0:0.9088:0.0:0.0912	.	64	Q8IYS4	CP071_HUMAN	E	64	ENSP00000299320:D64E	ENSP00000299320:D64E	D	+	3	2	C16orf71	4727864	1.000000	0.71417	0.996000	0.52242	0.547000	0.35210	1.799000	0.38824	1.290000	0.44636	0.650000	0.86243	GAC		0.577	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		29	98	1	0	2.37e-06	2.53e-06	29	98				
C16orf72	29035	broad.mit.edu	37	16	9210684	9210684	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:9210684A>G	ENST00000327827.7	+	4	1140	c.743A>G	c.(742-744)aAt>aGt	p.N248S		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	248										endometrium(4)|large_intestine(2)|lung(2)	8						CACTTGGACAATGGTGGAACT	0.438																																						uc002czm.2		NA																	0				large_intestine(1)	1						c.(742-744)AAT>AGT		hypothetical protein LOC29035							180.0	149.0	159.0					16																	9210684		2197	4300	6497	SO:0001583	missense	29035							g.chr16:9210684A>G	AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.743A>G	16.37:g.9210684A>G	ENSP00000331720:p.Asn248Ser						p.N248S	NM_014117	NP_054836	Q14CZ0	CP072_HUMAN			4	1108	+			248						Missense_Mutation	SNP	ENST00000327827.7	37	c.743A>G	CCDS10538.1	.	.	.	.	.	.	.	.	.	.	A	0.206	-1.040358	0.02013	.	.	ENSG00000182831	ENST00000327827	T	0.37411	1.2	5.85	4.75	0.60458	.	0.104414	0.64402	D	0.000008	T	0.09468	0.0233	N	0.00419	-1.52	0.36610	D	0.87513	B	0.14438	0.01	B	0.14578	0.011	T	0.29488	-1.0010	10	0.02654	T	1	-10.5057	12.1766	0.54188	0.9321:0.0:0.0679:0.0	.	248	Q14CZ0	CP072_HUMAN	S	248	ENSP00000331720:N248S	ENSP00000331720:N248S	N	+	2	0	C16orf72	9118185	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.847000	0.69451	2.238000	0.73509	0.477000	0.44152	AAT		0.438	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		41	139	0	0	0	0	41	139				
ZNF319	57567	broad.mit.edu	37	16	58031444	58031444	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:58031444C>T	ENST00000299237.2	-	2	1348	c.726G>A	c.(724-726)tcG>tcA	p.S242S	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	242					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)|ovary(1)|urinary_tract(1)	8						CCAGGTGCGACGACTGGCTGA	0.617																																						uc002emx.1		NA																	0					0						c.(724-726)TCG>TCA		zinc finger protein 319							102.0	96.0	98.0					16																	58031444		2198	4300	6498	SO:0001819	synonymous_variant	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031444C>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.726G>A	16.37:g.58031444C>T							p.S242S	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN			2	1349	-			242			C2H2-type 5.		Q52LH8	Silent	SNP	ENST00000299237.2	37	c.726G>A	CCDS32462.1																																																																																				0.617	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			43	155	0	0	0	0	43	155				
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656|rs397516437		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:7577547C>A	ENST00000269305.4	-	7	923	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000420246.2_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CCGGTTCATGCCGCCCATGCA	0.582		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		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245del(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(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	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)GGC>GTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	113.0	126.0					17																	7577547		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577547C>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.734G>T	17.37:g.7577547C>A	ENSP00000269305:p.Gly245Val	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_Missense_Mutation_p.G245V|TP53_uc002gih.2_Missense_Mutation_p.G245V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113V|TP53_uc010cng.1_Missense_Mutation_p.G113V|TP53_uc002gii.1_Missense_Mutation_p.G113V|TP53_uc010cnh.1_Missense_Mutation_p.G245V|TP53_uc010cni.1_Missense_Mutation_p.G245V|TP53_uc002gij.2_Missense_Mutation_p.G245V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152V|TP53_uc002gio.2_Missense_Mutation_p.G113V	p.G245V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	928	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.734G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563102	0.86335	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	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;0.999;1.0;1.0;1.0;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245V;ENSP00000352610:G245V;ENSP00000269305:G245V;ENSP00000398846:G245V;ENSP00000391127:G245V;ENSP00000391478:G245V;ENSP00000425104:G113V;ENSP00000423862:G152V	ENSP00000269305:G245V	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	42	1	0	1.22e-17	1.38e-17	28	42				
CHD3	1107	broad.mit.edu	37	17	7810280	7810280	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:7810280T>C	ENST00000330494.7	+	30	4747	c.4597T>C	c.(4597-4599)Tct>Cct	p.S1533P	SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.S1533P|CHD3_ENST00000380358.4_Missense_Mutation_p.S1592P	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1533					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGAGCCTCCTCTCCTACCAA	0.562																																						uc002gje.2		NA																	0				breast(1)	1						c.(4597-4599)TCT>CCT		chromodomain helicase DNA binding protein 3							143.0	148.0	146.0					17																	7810280		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7810280T>C	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4597T>C	17.37:g.7810280T>C	ENSP00000332628:p.Ser1533Pro					CHD3_uc002gjd.2_Missense_Mutation_p.S1592P|CHD3_uc002gjf.2_Missense_Mutation_p.S1533P|CHD3_uc002gjh.2_Missense_Mutation_p.S109P|CHD3_uc002gjj.2_5'Flank	p.S1533P	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			30	4747	+		Prostate(122;0.202)	1533					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.4597T>C	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049044	0.55110	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90955	-2.76;-2.71;-2.69	4.57	4.57	0.56435	.	0.000000	0.45867	D	0.000328	D	0.89068	0.6610	N	0.08118	0	0.58432	D	0.999999	D;D;D;D	0.71674	0.995;0.997;0.995;0.998	D;D;D;D	0.78314	0.969;0.991;0.979;0.986	D	0.89873	0.4024	10	0.40728	T	0.16	-14.9866	14.0553	0.64764	0.0:0.0:0.0:1.0	.	109;1533;1533;1592	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	P	1592;1533;1533	ENSP00000369716:S1592P;ENSP00000350907:S1533P;ENSP00000332628:S1533P	ENSP00000332628:S1533P	S	+	1	0	CHD3	7751005	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.033000	0.70925	2.038000	0.60285	0.334000	0.21626	TCT		0.562	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		61	260	0	0	0	0	61	260				
PFAS	5198	broad.mit.edu	37	17	8167250	8167250	+	Missense_Mutation	SNP	G	G	A	rs142452570	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:8167250G>A	ENST00000314666.6	+	15	1920	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q	PFAS_ENST00000545834.1_Missense_Mutation_p.R172Q|PFAS_ENST00000585319.1_3'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	596					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	ACTGGAGACCGGAGAGTGAGT	0.597													G|||	4	0.000798722	0.0	0.0014	5008	,	,		18647	0.001		0.002	False		,,,				2504	0.0					uc002gkr.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(1786-1788)CGG>CAG		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	G	GLN/ARG	0,4406		0,0,2203	57.0	58.0	58.0		1787	0.2	1.0	17	dbSNP_134	58	10,8590	7.1+/-27.0	0,10,4290	yes	missense	PFAS	NM_012393.2	43	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	benign	596/1339	8167250	10,12996	2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8167250G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1787G>A	17.37:g.8167250G>A	ENSP00000313490:p.Arg596Gln					PFAS_uc010vuv.1_Missense_Mutation_p.R172Q|PFAS_uc010cnw.1_Intron|PFAS_uc002gks.2_5'Flank	p.R596Q	NM_012393	NP_036525	O15067	PUR4_HUMAN			15	1928	+			596					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.1787G>A	CCDS11136.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	2	0.002638522427440633	G	17.24	3.338079	0.60963	0.0	0.001163	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.28666	1.6;1.6	5.84	0.244	0.15507	AIR synthase-related protein, C-terminal (2);	0.290063	0.37809	N	0.001936	T	0.12902	0.0313	N	0.10733	0.035	0.24539	N	0.99407	B	0.16603	0.018	B	0.11329	0.006	T	0.24799	-1.0150	10	0.23302	T	0.38	-10.483	8.4905	0.33098	0.4804:0.0:0.5196:0.0	.	596	O15067	PUR4_HUMAN	Q	172;596	ENSP00000441706:R172Q;ENSP00000313490:R596Q	ENSP00000313490:R596Q	R	+	2	0	PFAS	8107975	1.000000	0.71417	0.986000	0.45419	0.975000	0.68041	1.947000	0.40293	-0.161000	0.10983	-0.214000	0.12660	CGG		0.597	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			39	118	0	0	0	0	39	118				
MYH13	8735	broad.mit.edu	37	17	10222179	10222179	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:10222179C>T	ENST00000418404.3	-	26	3829	c.3666G>A	c.(3664-3666)gaG>gaA	p.E1222E	RP11-401O9.4_ENST00000609088.1_RNA|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.E1222E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1222					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTTCTCCTTCTCCAGCTTCT	0.557																																						uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(3664-3666)GAG>GAA		myosin, heavy polypeptide 13, skeletal muscle							122.0	113.0	116.0					17																	10222179		2203	4300	6503	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10222179C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3666G>A	17.37:g.10222179C>T							p.E1222E	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			27	3756	-			1222			Potential.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.3666G>A	CCDS45613.1																																																																																				0.557	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		27	168	0	0	0	0	27	168				
MYH8	4626	broad.mit.edu	37	17	10304723	10304723	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:10304723C>A	ENST00000403437.2	-	24	3071	c.2977G>T	c.(2977-2979)Gca>Tca	p.A993S	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	993					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GACAGTTTTGCAATGGTTTCA	0.458									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(2977-2979)GCA>TCA		myosin, heavy chain 8, skeletal muscle,							127.0	129.0	128.0					17																	10304723		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304723C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2977G>T	17.37:g.10304723C>A	ENSP00000384330:p.Ala993Ser					uc002gml.1_Intron	p.A993S	NM_002472	NP_002463	P13535	MYH8_HUMAN			24	3072	-			993			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2977G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321017	0.41096	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.90197	-2.63	5.65	5.65	0.86999	.	0.000000	0.41396	U	0.000884	D	0.84160	0.5411	N	0.16743	0.435	0.44194	D	0.997012	B	0.02656	0.0	B	0.06405	0.002	T	0.77011	-0.2746	10	0.21014	T	0.42	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	993	P13535	MYH8_HUMAN	S	993	ENSP00000384330:A993S	ENSP00000252173:A993S	A	-	1	0	MYH8	10245448	0.954000	0.32549	0.420000	0.26596	0.941000	0.58515	2.242000	0.43106	2.941000	0.99782	0.655000	0.94253	GCA		0.458	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		62	219	1	0	7.42e-26	8.39e-26	62	219				
ALKBH5	54890	broad.mit.edu	37	17	18110247	18110247	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:18110247C>T	ENST00000399138.4	+	3	975	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	324					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					GAAACCCAAGCGGTCCCACCG	0.587																																					Ovarian(166;154 1953 40235 46283 46309)	uc010cpw.2		NA																	0					0						c.(970-972)CGG>TGG		alkB, alkylation repair homolog 5							156.0	161.0	160.0					17																	18110247		1933	4126	6059	SO:0001583	missense	54890					integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:18110247C>T	AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"""Alkylation repair homologs"""	25996	protein-coding gene	gene with protein product		613303	"""oxoglutarate and iron-dependent oxygenase domain containing"", ""alkB, alkylation repair homolog 5 (E. coli)"""	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.970C>T	17.37:g.18110247C>T	ENSP00000382091:p.Arg324Trp					ALKBH5_uc010cpx.2_RNA	p.R324W	NM_017758	NP_060228	Q6P6C2	ALKB5_HUMAN			3	1661	+	all_neural(463;0.228)		324					B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	ENST00000399138.4	37	c.970C>T	CCDS42272.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146800	0.77888	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	.	.	.	5.56	4.57	0.56435	.	0.058861	0.64402	D	0.000002	T	0.65069	0.2656	L	0.29908	0.895	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.67511	-0.5652	9	0.56958	D	0.05	-10.9807	13.877	0.63660	0.2856:0.7144:0.0:0.0	.	324	Q6P6C2-2	.	W	324;313;324	.	ENSP00000261650:R324W	R	+	1	2	ALKBH5	18050972	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.945000	0.49043	1.288000	0.44600	0.655000	0.94253	CGG		0.587	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3	NM_017758		75	319	0	0	0	0	75	319				
ASIC2	40	broad.mit.edu	37	17	31415907	31415907	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:31415907T>C	ENST00000359872.6	-	3	1569	c.808A>G	c.(808-810)Acc>Gcc	p.T270A	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Missense_Mutation_p.T321A	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	270					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GCCACAAAGGTCTGGAACCCT	0.572																																						uc002hhu.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(808-810)ACC>GCC		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						56.0	55.0	55.0					17																	31415907		2203	4300	6503	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31415907T>C	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.808A>G	17.37:g.31415907T>C	ENSP00000352934:p.Thr270Ala					ACCN1_uc002hht.2_Missense_Mutation_p.T321A	p.T270A	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	3	1082	-		Breast(31;0.042)|Ovarian(249;0.202)	270			Extracellular (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.808A>G	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	T	17.65	3.441192	0.63067	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	T;T	0.68025	-0.3;-0.3	5.48	5.48	0.80851	.	0.053248	0.85682	D	0.000000	T	0.78773	0.4336	M	0.70842	2.15	0.80722	D	1	D;D	0.63880	0.993;0.992	D;D	0.70227	0.921;0.968	T	0.76269	-0.3021	10	0.30854	T	0.27	-3.2168	13.501	0.61454	0.0:0.0:0.0:1.0	.	270;321	Q16515;E9PBX2	ACCN1_HUMAN;.	A	321;270;76	ENSP00000225823:T321A;ENSP00000352934:T270A	ENSP00000225823:T321A	T	-	1	0	ACCN1	28440020	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	7.988000	0.88194	2.574000	0.86865	0.491000	0.48974	ACC		0.572	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		13	33	0	0	0	0	13	33				
KRT36	8689	broad.mit.edu	37	17	39643670	39643670	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:39643670G>A	ENST00000328119.6	-	5	919	c.920C>T	c.(919-921)aCg>aTg	p.T307M	KRT36_ENST00000393986.2_Missense_Mutation_p.T257M	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	307	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GATGATCTCCGTCTGGCAGCA	0.612																																						uc002hwt.2		NA																	0					0						c.(919-921)ACG>ATG		keratin 36							74.0	56.0	62.0					17																	39643670		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39643670G>A	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.920C>T	17.37:g.39643670G>A	ENSP00000329165:p.Thr307Met						p.T307M	NM_003771	NP_003762	O76013	KRT36_HUMAN			5	920	-		Breast(137;0.000286)	307			Rod.|Coil 2.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.920C>T	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956722	0.53293	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	T;T	0.77877	-1.13;-1.13	6.07	5.1	0.69264	Filament (1);	0.123002	0.36932	N	0.002336	T	0.75148	0.3810	L	0.35644	1.08	0.22213	N	0.999281	B	0.25563	0.129	B	0.37239	0.244	T	0.70077	-0.4971	10	0.62326	D	0.03	.	15.4522	0.75282	0.0:0.0:0.7357:0.2643	.	307	O76013	KRT36_HUMAN	M	257;307	ENSP00000377555:T257M;ENSP00000329165:T307M	ENSP00000329165:T307M	T	-	2	0	KRT36	36897196	0.023000	0.18921	0.747000	0.31113	0.984000	0.73092	1.984000	0.40658	1.568000	0.49683	0.655000	0.94253	ACG		0.612	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		3	44	0	0	0	0	3	44				
TUBG1	7283	broad.mit.edu	37	17	40765019	40765019	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:40765019G>A	ENST00000251413.3	+	6	596	c.534G>A	c.(532-534)atG>atA	p.M178I	FAM134C_ENST00000585894.1_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	178					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)	AGGACGAGATGAGCGATGTGG	0.542																																					Colon(20;114 698 11420 22864)	uc002ian.2		NA																	0				ovary(1)	1						c.(532-534)ATG>ATA		tubulin, gamma 1							196.0	157.0	170.0					17																	40765019		2203	4300	6503	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.chr17:40765019G>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.534G>A	17.37:g.40765019G>A	ENSP00000251413:p.Met178Ile						p.M178I	NM_001070	NP_001061	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	6	932	+		Breast(137;0.00116)	178					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.534G>A	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911155	0.33721	.	.	ENSG00000131462	ENST00000251413	T	0.66638	-0.22	4.81	4.81	0.61882	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	N	0.01729	-0.75	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36744	-0.9735	10	0.12766	T	0.61	-19.8778	18.0856	0.89456	0.0:0.0:1.0:0.0	.	178	P23258	TBG1_HUMAN	I	178	ENSP00000251413:M178I	ENSP00000251413:M178I	M	+	3	0	TUBG1	38018545	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	9.654000	0.98509	2.500000	0.84329	0.591000	0.81541	ATG		0.542	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		53	138	0	0	0	0	53	138				
AOC2	314	broad.mit.edu	37	17	40996984	40996984	+	Missense_Mutation	SNP	C	C	T	rs373389718		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:40996984C>T	ENST00000253799.3	+	1	368	c.341C>T	c.(340-342)cCc>cTc	p.P114L	AOC2_ENST00000452774.2_Missense_Mutation_p.P114L	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	114					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGGGGGAGCCCCCCACCTGCC	0.677																																						uc002ibu.2		NA																	0				ovary(2)	2						c.(340-342)CCC>CTC		amine oxidase, copper containing 2 isoform b							28.0	32.0	30.0					17																	40996984		2203	4294	6497	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40996984C>T	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.341C>T	17.37:g.40996984C>T	ENSP00000253799:p.Pro114Leu					AOC2_uc002ibt.2_Missense_Mutation_p.P114L	p.P114L	NM_009590	NP_033720	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	376	+		Breast(137;0.000143)	114					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.341C>T	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.411254	0.25465	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.33438	1.41;1.41	5.01	4.02	0.46733	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.336904	0.31156	N	0.008142	T	0.35970	0.0950	L	0.58810	1.83	0.48452	D	0.999659	P;P	0.47409	0.895;0.843	P;B	0.48189	0.57;0.343	T	0.12682	-1.0538	10	0.49607	T	0.09	-31.6696	9.921	0.41464	0.0:0.7412:0.1771:0.0818	.	114;114	O75106;O75106-2	AOC2_HUMAN;.	L	114	ENSP00000253799:P114L;ENSP00000406134:P114L	ENSP00000253799:P114L	P	+	2	0	AOC2	38250510	0.000000	0.05858	0.933000	0.37362	0.053000	0.15095	1.294000	0.33365	1.298000	0.44778	0.563000	0.77884	CCC		0.677	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		29	86	0	0	0	0	29	86				
WNT9B	7484	broad.mit.edu	37	17	44949908	44949908	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:44949908C>G	ENST00000290015.2	+	2	156	c.103C>G	c.(103-105)Ccc>Gcc	p.P35A	WNT9B_ENST00000393461.2_Missense_Mutation_p.P35A	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	35					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGTCCTGACGCCCTTCCCAGG	0.667																																						uc002ikw.1		NA																	0				lung(2)	2						c.(103-105)CCC>GCC		wingless-type MMTV integration site family,							50.0	55.0	53.0					17																	44949908		2201	4297	6498	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44949908C>G	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.103C>G	17.37:g.44949908C>G	ENSP00000290015:p.Pro35Ala					WNT9B_uc002ikx.1_Missense_Mutation_p.P35A	p.P35A	NM_003396	NP_003387	O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		2	140	+			35					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.103C>G	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	C	9.975	1.226426	0.22542	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	T;T	0.77098	-1.07;-0.86	4.62	3.65	0.41850	.	0.590012	0.16537	U	0.210129	T	0.66538	0.2799	L	0.47716	1.5	0.29986	N	0.817334	B;B	0.25105	0.022;0.118	B;B	0.16722	0.006;0.016	T	0.55560	-0.8122	10	0.05620	T	0.96	.	12.8895	0.58064	0.0:0.9211:0.0:0.0789	.	35;35	E7EPC3;O14905	.;WNT9B_HUMAN	A	41;35;35	ENSP00000377105:P35A;ENSP00000290015:P35A	ENSP00000290015:P35A	P	+	1	0	WNT9B	42304907	0.066000	0.20996	0.990000	0.47175	0.971000	0.66376	1.014000	0.29950	1.306000	0.44926	0.561000	0.74099	CCC		0.667	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		51	202	0	0	0	0	51	202				
C17orf67	339210	broad.mit.edu	37	17	54872507	54872507	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:54872507C>T	ENST00000575658.1	-	7	1469	c.263G>A	c.(262-264)cGc>cAc	p.R88H	C17orf67_ENST00000397861.2_Missense_Mutation_p.R64H|C17orf67_ENST00000397862.2_Missense_Mutation_p.R88H	NM_001085430.2	NP_001078899.2	Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	88						extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					CTCCTCAGCGCGATGCTCCAG	0.547																																						uc010dci.2		NA																	0					0						c.(262-264)CGC>CAC		hypothetical protein LOC339210 precursor							90.0	98.0	95.0					17																	54872507		2097	4230	6327	SO:0001583	missense	339210					extracellular region		g.chr17:54872507C>T	BC041467	CCDS42364.1, CCDS42364.2	17q23.2	2012-10-11			ENSG00000214226	ENSG00000214226			27900	protein-coding gene	gene with protein product						12477932	Standard	NM_001085430		Approved		uc002iuq.4	Q0P5P2	OTTHUMG00000132083	ENST00000575658.1:c.263G>A	17.37:g.54872507C>T	ENSP00000461483:p.Arg88His					C17orf67_uc002iuq.2_RNA	p.R88H	NM_001085430	NP_001078899	Q0P5P2	CQ067_HUMAN			3	270	-	Breast(9;2.49e-06)		88						Missense_Mutation	SNP	ENST00000575658.1	37	c.263G>A		.	.	.	.	.	.	.	.	.	.	C	12.26	1.885480	0.33255	.	.	ENSG00000214226	ENST00000397861;ENST00000397862	.	.	.	4.53	3.56	0.40772	.	0.000000	0.47093	U	0.000245	T	0.61085	0.2319	L	0.29908	0.895	0.46222	D	0.998933	D	0.76494	0.999	D	0.64237	0.923	T	0.63849	-0.6544	9	0.72032	D	0.01	-16.6978	11.6147	0.51083	0.0:0.9105:0.0:0.0895	.	88	Q0P5P2	CQ067_HUMAN	H	88	.	ENSP00000380959:R88H	R	-	2	0	C17orf67	52227506	0.531000	0.26338	0.565000	0.28409	0.336000	0.28762	1.393000	0.34497	1.030000	0.39839	0.563000	0.77884	CGC		0.547	C17orf67-202	KNOWN	basic	protein_coding	protein_coding		NM_001085430		13	49	0	0	0	0	13	49				
EPX	8288	broad.mit.edu	37	17	56274611	56274611	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:56274611C>T	ENST00000225371.5	+	7	1223	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	371					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	TCCCCTGCTTCCTGGCAGGTC	0.617																																						uc002ivq.2		NA																	0				ovary(2)	2						c.(1111-1113)TTC>TTT		eosinophil peroxidase preproprotein							44.0	46.0	45.0					17																	56274611		2203	4300	6503	SO:0001819	synonymous_variant	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56274611C>T	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1113C>T	17.37:g.56274611C>T							p.F371F	NM_000502	NP_000493	P11678	PERE_HUMAN			7	1199	+			371					Q4TVP3	Silent	SNP	ENST00000225371.5	37	c.1113C>T	CCDS11602.1																																																																																				0.617	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		28	75	0	0	0	0	28	75				
GH2	2689	broad.mit.edu	37	17	61957832	61957832	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:61957832G>A	ENST00000423893.2	-	5	564	c.503C>T	c.(502-504)tCc>tTc	p.S168F	GH2_ENST00000449787.2_Missense_Mutation_p.S153F|GH2_ENST00000456543.2_Missense_Mutation_p.P167S|GH2_ENST00000332800.7_Silent_p.V252V			P01242	SOM2_HUMAN	growth hormone 2	168					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CTTGCTGTAGGACTGATTGAA	0.542																																						uc002jco.1		NA																	0				upper_aerodigestive_tract(2)|pancreas(1)	3						c.(502-504)TCC>TTC		growth hormone 2 isoform 1							189.0	157.0	168.0					17																	61957832		2203	4300	6503	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61957832G>A	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.503C>T	17.37:g.61957832G>A	ENSP00000409294:p.Ser168Phe					GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Silent_p.V252V|GH2_uc002jcm.1_Missense_Mutation_p.P167S|GH2_uc002jcn.1_Missense_Mutation_p.S153F	p.S168F	NM_002059	NP_002050	P01242	SOM2_HUMAN			5	565	-			168					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.503C>T	CCDS11647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.14|12.14	1.848833|1.848833	0.32699|0.32699	.|.	.|.	ENSG00000136487|ENSG00000136487	ENST00000456543|ENST00000423893;ENST00000449787	D|D;D	0.90732|0.86956	-2.72|-2.19;-2.19	2.74|2.74	2.74|2.74	0.32292|0.32292	.|Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.|.	.|.	.|.	.|.	D|D	0.87136|0.87136	0.6102|0.6102	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|B;B	0.23990|0.21071	0.095|0.051;0.013	B|B;B	0.26094|0.38683	0.066|0.279;0.06	D|D	0.86901|0.86901	0.2054|0.2054	8|8	0.62326|0.87932	D|D	0.03|0	.|.	12.4782|12.4782	0.55827|0.55827	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	167|168;153	O14644|P01242;O14643	.|SOM2_HUMAN;.	S|F	167|168;153	ENSP00000394122:P167S|ENSP00000409294:S168F;ENSP00000410618:S153F	ENSP00000394122:P167S|ENSP00000409294:S168F	P|S	-|-	1|2	0|0	GH2|GH2	59311564|59311564	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.022000|0.022000	0.10575|0.10575	6.244000|6.244000	0.72391|0.72391	1.531000|1.531000	0.49152|0.49152	0.306000|0.306000	0.20318|0.20318	CCT|TCC		0.542	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		38	133	0	0	0	0	38	133				
SCN4A	6329	broad.mit.edu	37	17	62018859	62018859	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:62018859C>T	ENST00000435607.1	-	24	4859	c.4783G>A	c.(4783-4785)Gcc>Acc	p.A1595T	SCN4A_ENST00000578147.1_Missense_Mutation_p.A1595T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1595					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGATGATGGCGATGTACATG	0.517																																						uc002jds.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(4783-4785)GCC>ACC		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						75.0	80.0	79.0					17																	62018859		2197	4294	6491	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018859C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4783G>A	17.37:g.62018859C>T	ENSP00000396320:p.Ala1595Thr						p.A1595T	NM_000334	NP_000325	P35499	SCN4A_HUMAN			24	4860	-			1595			IV.|Helical; Name=S6 of repeat IV; (Potential).		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.4783G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348807	0.82132	.	.	ENSG00000007314	ENST00000435607	D	0.99239	-5.61	3.91	3.91	0.45181	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99622	0.9862	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.97390	0.9988	10	0.87932	D	0	.	15.4415	0.75187	0.0:1.0:0.0:0.0	.	1595	P35499	SCN4A_HUMAN	T	1595	ENSP00000396320:A1595T	ENSP00000396320:A1595T	A	-	1	0	SCN4A	59372591	1.000000	0.71417	0.984000	0.44739	0.864000	0.49448	7.609000	0.82925	2.180000	0.69256	0.561000	0.74099	GCC		0.517	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		22	70	0	0	0	0	22	70				
WIPI1	55062	broad.mit.edu	37	17	66426234	66426234	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:66426234G>T	ENST00000262139.5	-	9	867	c.868C>A	c.(868-870)Ctc>Atc	p.L290I	WIPI1_ENST00000546360.1_Missense_Mutation_p.L208I|RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	290					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGGGTAGGGAGGTAGTTGGTA	0.527																																						uc010dey.2		NA																	0					0						c.(868-870)CTC>ATC		WD repeat domain, phosphoinositide interacting							154.0	125.0	135.0					17																	66426234		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66426234G>T		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.868C>A	17.37:g.66426234G>T	ENSP00000262139:p.Leu290Ile					WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Missense_Mutation_p.L208I|WIPI1_uc002jhe.3_RNA	p.L290I	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN			9	959	-			290					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.868C>A	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504665	0.85176	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.65178	0.33;-0.14	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80171	0.4574	M	0.82132	2.575	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	T	0.80502	-0.1354	10	0.48119	T	0.1	-18.8997	19.4835	0.95020	0.0:0.0:1.0:0.0	.	290	Q5MNZ9	WIPI1_HUMAN	I	290;208	ENSP00000262139:L290I;ENSP00000437345:L208I	ENSP00000262139:L290I	L	-	1	0	WIPI1	63937829	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.199000	0.72112	2.618000	0.88619	0.561000	0.74099	CTC		0.527	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		26	90	1	0	3.18e-06	3.39e-06	26	90				
DCC	1630	broad.mit.edu	37	18	50923746	50923746	+	Silent	SNP	G	G	A	rs144874430	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr18:50923746G>A	ENST00000442544.2	+	18	3373	c.2757G>A	c.(2755-2757)tcG>tcA	p.S919S	DCC_ENST00000581580.1_Silent_p.S554S|DCC_ENST00000412726.1_Silent_p.S747S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	919	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.S919S(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGAATTCTCGGTCATGGTAA	0.413													G|||	3	0.000599042	0.0008	0.0029	5008	,	,		19473	0.0		0.0	False		,,,				2504	0.0					uc002lfe.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(2755-2757)TCG>TCA		netrin receptor DCC precursor		G		1,4405	2.1+/-5.4	0,1,2202	121.0	105.0	110.0		2757	-6.7	0.9	18	dbSNP_134	110	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DCC	NM_005215.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		919/1448	50923746	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50923746G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2757G>A	18.37:g.50923746G>A						DCC_uc010xdr.1_Silent_p.S747S|DCC_uc010dpf.1_Silent_p.S554S	p.S919S	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	18	3344	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	919			Extracellular (Potential).|Fibronectin type-III 5.			Silent	SNP	ENST00000442544.2	37	c.2757G>A	CCDS11952.1																																																																																				0.413	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		3	86	0	0	0	0	3	86				
TXNL1	9352	broad.mit.edu	37	18	54291640	54291640	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr18:54291640C>T	ENST00000217515.6	-	3	452	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	TXNL1_ENST00000540155.1_5'UTR|TXNL1_ENST00000590954.1_Missense_Mutation_p.R83Q	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	83	Thioredoxin.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		CACTTTGTTTCGAAAAAACAA	0.378																																						uc002lgg.2		NA																	0					0						c.(247-249)CGA>CAA		thioredoxin-like 1							182.0	177.0	179.0					18																	54291640		2203	4300	6503	SO:0001583	missense	9352				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity	g.chr18:54291640C>T	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.248G>A	18.37:g.54291640C>T	ENSP00000217515:p.Arg83Gln					TXNL1_uc010xdz.1_RNA|TXNL1_uc002lgh.2_RNA|TXNL1_uc002lgi.2_Missense_Mutation_p.R83Q|TXNL1_uc002lgj.1_Missense_Mutation_p.R83Q	p.R83Q	NM_004786	NP_004777	O43396	TXNL1_HUMAN		READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)	3	497	-			83			Thioredoxin.			Missense_Mutation	SNP	ENST00000217515.6	37	c.248G>A	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.850626	0.91277	.	.	ENSG00000091164	ENST00000217515	T	0.24350	1.86	6.16	5.3	0.74995	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	M	0.64260	1.97	0.80722	D	1	P;P	0.45827	0.846;0.867	B;B	0.37731	0.134;0.257	T	0.05649	-1.0872	10	0.36615	T	0.2	.	15.3935	0.74767	0.0:0.933:0.0:0.067	.	83;83	B2R960;O43396	.;TXNL1_HUMAN	Q	83	ENSP00000217515:R83Q	ENSP00000217515:R83Q	R	-	2	0	TXNL1	52442638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.466000	0.80914	1.622000	0.50330	0.650000	0.86243	CGA		0.378	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2			60	163	0	0	0	0	60	163				
FCHO1	23149	broad.mit.edu	37	19	17888953	17888953	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:17888953G>A	ENST00000596536.1	+	19	1550	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	FCHO1_ENST00000596951.1_Missense_Mutation_p.E423K|FCHO1_ENST00000389133.4_Missense_Mutation_p.E423K|FCHO1_ENST00000595033.1_Missense_Mutation_p.E373K|FCHO1_ENST00000539407.1_Missense_Mutation_p.E423K|FCHO1_ENST00000594202.1_Missense_Mutation_p.E423K|FCHO1_ENST00000600676.1_Missense_Mutation_p.E423K|FCHO1_ENST00000252771.7_Missense_Mutation_p.E423K|FCHO1_ENST00000597512.1_Missense_Mutation_p.E430K	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	423	Mediates interaction with the adaptor protein complex AP-2.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TAGCTGTGCAGAGAGATTGCA	0.537																																						uc010ebb.2		NA																	0				breast(1)	1						c.(1267-1269)GAG>AAG		FCH domain only 1 isoform b							58.0	56.0	56.0					19																	17888953		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17888953G>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.1267G>A	19.37:g.17888953G>A	ENSP00000470731:p.Glu423Lys					FCHO1_uc002nhg.3_Missense_Mutation_p.E423K|FCHO1_uc002nhh.2_Missense_Mutation_p.E423K|FCHO1_uc010xpw.1_Missense_Mutation_p.E373K|FCHO1_uc002nhi.2_5'Flank|FCHO1_uc002nhj.2_5'Flank	p.E423K	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN			18	1456	+			423					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.1267G>A	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789831	0.31685	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.31510	1.49;1.49;1.49	4.82	4.82	0.62117	.	1.083200	0.07022	N	0.826988	T	0.20901	0.0503	N	0.13098	0.295	0.41168	D	0.98614	B;B	0.34015	0.309;0.435	B;B	0.27500	0.037;0.08	T	0.06463	-1.0825	10	0.21014	T	0.42	-17.0042	15.3701	0.74557	0.0:0.0:1.0:0.0	.	423;423	O14526;O14526-2	FCHO1_HUMAN;.	K	423	ENSP00000252771:E423K;ENSP00000373785:E423K;ENSP00000437978:E423K	ENSP00000252771:E423K	E	+	1	0	FCHO1	17749953	1.000000	0.71417	0.319000	0.25293	0.048000	0.14542	4.300000	0.59079	2.217000	0.71921	0.555000	0.69702	GAG		0.537	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		3	95	0	0	0	0	3	95				
ZNF506	440515	broad.mit.edu	37	19	19905666	19905666	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:19905666C>T	ENST00000540806.2	-	4	1118	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N	ZNF506_ENST00000450683.2_Missense_Mutation_p.D312N|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000443905.2_Missense_Mutation_p.D344N|ZNF506_ENST00000587461.1_Intron|CTC-559E9.4_ENST00000590274.1_lincRNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CCACATTCGTCACATTTGTAG	0.413																																						uc010eci.2		NA																	0					0						c.(1030-1032)GAC>AAC		zinc finger protein 506 isoform 1							85.0	90.0	88.0					19																	19905666		2175	4287	6462	SO:0001583	missense	440515				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr19:19905666C>T	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.1030G>A	19.37:g.19905666C>T	ENSP00000440625:p.Asp344Asn					ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.D312N	p.D344N	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN			4	1178	-			344			C2H2-type 6.		B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	c.1030G>A	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	-	9.508	1.105114	0.20632	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.07327	3.2;3.2;3.2	1.01	-0.179	0.13299	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06690	0.0171	L	0.28740	0.885	0.18873	N	0.999985	P;B	0.36183	0.542;0.01	B;B	0.41135	0.348;0.015	T	0.37731	-0.9693	9	0.38643	T	0.18	.	3.3335	0.07093	0.0:0.4131:0.0:0.5869	.	344;312	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	N	344;344;312	ENSP00000393835:D344N;ENSP00000440625:D344N;ENSP00000408892:D312N	ENSP00000393835:D344N	D	-	1	0	ZNF506	19766666	0.000000	0.05858	0.115000	0.21578	0.092000	0.18411	-2.338000	0.01103	0.430000	0.26230	0.430000	0.28490	GAC		0.413	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218		5	174	0	0	0	0	5	174				
ZNF99	7652	broad.mit.edu	37	19	22939037	22939037	+	IGR	SNP	A	A	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:22939037A>T	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.H1028Q|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GAATTATCTTATGTTTAGTAA	0.333																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(3079-3081)CAT>CAA		zinc finger protein 99							49.0	68.0	62.0					19																	22939037		1953	4246	6199	SO:0001628	intergenic_variant	7652							g.chr19:22939037A>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939037A>T							p.H1027Q	NM_001080409	NP_001073878					8	3081	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.3081T>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	11.07	1.531676	0.27387	.	.	ENSG00000213973	ENST00000397104	D	0.99974	-10.2	0.918	0.918	0.19386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.99955	0.9981	.	.	.	0.21782	N	0.999547	D	0.57257	0.979	P	0.54100	0.742	D	0.99985	1.3062	8	0.87932	D	0	.	6.9013	0.24285	1.0:0.0:0.0:0.0	.	1027	A8MXY4	ZNF99_HUMAN	Q	1028	ENSP00000380293:H1028Q	ENSP00000380293:H1028Q	H	-	3	2	ZNF99	22730877	0.002000	0.14202	0.002000	0.10522	0.004000	0.04260	-0.424000	0.07025	0.363000	0.24346	0.063000	0.15292	CAT		0.333	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		52	135	0	0	0	0	52	135				
DYRK1B	9149	broad.mit.edu	37	19	40319149	40319149	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:40319149C>A	ENST00000593685.1	-	6	1063	c.595G>T	c.(595-597)Gac>Tac	p.D199Y	DYRK1B_ENST00000597639.1_Missense_Mutation_p.D199Y|DYRK1B_ENST00000348817.3_Missense_Mutation_p.D199Y|DYRK1B_ENST00000430012.2_Missense_Mutation_p.D199Y|DYRK1B_ENST00000323039.5_Missense_Mutation_p.D199Y			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	199	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CGCAGGAGGTCGTACAGGTTG	0.622																																						uc002omj.2		NA																	0				ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7						c.(595-597)GAC>TAC		dual-specificity tyrosine-(Y)-phosphorylation							80.0	76.0	77.0					19																	40319149		2203	4300	6503	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40319149C>A	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.595G>T	19.37:g.40319149C>A	ENSP00000469863:p.Asp199Tyr					DYRK1B_uc002omi.2_Missense_Mutation_p.D199Y|DYRK1B_uc002omk.2_Missense_Mutation_p.D199Y	p.D199Y	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		6	875	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		199			Protein kinase.		O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.595G>T	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883369	0.91740	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.24538	1.85;1.85;1.85	5.95	5.95	0.96441	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56891	0.2016	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.998	T	0.59888	-0.7369	10	0.87932	D	0	.	17.8657	0.88794	0.0:1.0:0.0:0.0	.	199;199;199	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	Y	199	ENSP00000312789:D199Y;ENSP00000221803:D199Y;ENSP00000403182:D199Y	ENSP00000312789:D199Y	D	-	1	0	DYRK1B	45010989	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	7.796000	0.85898	2.826000	0.97356	0.491000	0.48974	GAC		0.622	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		6	10	1	0	0.00116845	0.0012234	6	10				
DHX34	9704	broad.mit.edu	37	19	47856739	47856739	+	Missense_Mutation	SNP	G	G	A	rs149967464	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:47856739G>A	ENST00000328771.4	+	2	801	c.452G>A	c.(451-453)cGt>cAt	p.R151H		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	151					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCATTTGGGCGTCTGGCCAAG	0.647													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18083	0.0		0.001	False		,,,				2504	0.0					uc010xyn.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(451-453)CGT>CAT		DEAH (Asp-Glu-Ala-His) box polypeptide 34		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	51.0	50.0	51.0		452	3.5	0.8	19	dbSNP_134	51	0,8600		0,0,4300	no	missense	DHX34	NM_014681.5	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	151/1144	47856739	2,13004	2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47856739G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.452G>A	19.37:g.47856739G>A	ENSP00000331907:p.Arg151His					DHX34_uc010elc.1_Missense_Mutation_p.R151H	p.R151H	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	2	793	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	151					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.452G>A	CCDS12700.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.43	3.122509	0.56613	4.54E-4	0.0	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.09817	2.94	5.79	3.54	0.40534	DEAD-like helicase (1);	0.183165	0.26258	N	0.025407	T	0.19167	0.0460	L	0.49778	1.585	0.19945	N	0.999943	D;D	0.71674	0.998;0.997	P;P	0.59288	0.855;0.739	T	0.02345	-1.1173	10	0.87932	D	0	.	7.4318	0.27132	0.302:0.0:0.698:0.0	.	151;151	Q14147;B4E3G3	DHX34_HUMAN;.	H	151	ENSP00000331907:R151H	ENSP00000257252:R151H	R	+	2	0	DHX34	52548579	0.993000	0.37304	0.755000	0.31263	0.386000	0.30323	4.181000	0.58303	1.451000	0.47736	0.555000	0.69702	CGT		0.647	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		35	65	0	0	0	0	35	65				
RASIP1	54922	broad.mit.edu	37	19	49238477	49238477	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:49238477C>T	ENST00000222145.4	-	4	1359	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	385					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGCCCTGGAGCAGCAGGAAGT	0.637																																						uc002pki.2		NA																	0				pancreas(1)	1						c.(1153-1155)CTG>CTA		Ras-interacting protein 1							26.0	30.0	29.0					19																	49238477		2203	4300	6503	SO:0001819	synonymous_variant	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49238477C>T	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1155G>A	19.37:g.49238477C>T							p.L385L	NM_017805	NP_060275	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	4	1352	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	385					Q6U676	Silent	SNP	ENST00000222145.4	37	c.1155G>A	CCDS12731.1																																																																																				0.637	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		7	30	0	0	0	0	7	30				
ZNF808	388558	broad.mit.edu	37	19	53057763	53057763	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:53057763C>G	ENST00000359798.4	+	5	1774	c.1594C>G	c.(1594-1596)Ctt>Gtt	p.L532V		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	532					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(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CCATCGTAGACTTCACACTCT	0.413																																						uc010epq.1		NA																	0					0						c.(1594-1596)CTT>GTT		zinc finger protein 808							148.0	161.0	157.0					19																	53057763		2202	4300	6502	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53057763C>G	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1594C>G	19.37:g.53057763C>G	ENSP00000352846:p.Leu532Val					ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	p.L532V	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	1771	+			532			C2H2-type 11.		Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1594C>G	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	4.749	0.139203	0.09083	.	.	ENSG00000198482	ENST00000359798	T	0.16196	2.36	1.5	-1.64	0.08318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	N	0.01242	-0.935	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35226	-0.9797	9	0.36615	T	0.2	.	3.5336	0.07786	0.6098:0.2331:0.1571:0.0	.	532	Q8N4W9	ZN808_HUMAN	V	532	ENSP00000352846:L532V	ENSP00000352846:L532V	L	+	1	0	ZNF808	57749575	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.082000	0.14847	-0.805000	0.04404	0.195000	0.17529	CTT		0.413	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		59	251	0	0	0	0	59	251				
PPP6R1	22870	broad.mit.edu	37	19	55752732	55752732	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:55752732T>C	ENST00000412770.2	-	9	1602	c.1036A>G	c.(1036-1038)Atg>Gtg	p.M346V	PPP6R1_ENST00000587283.1_Missense_Mutation_p.M346V	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	346	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						GGAGCCAGCATGCCCCATGTC	0.667																																						uc002qjw.3		NA																	0					0						c.(1036-1038)ATG>GTG		SAPS domain family, member 1							33.0	38.0	37.0					19																	55752732		2138	4264	6402	SO:0001583	missense	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55752732T>C	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1036A>G	19.37:g.55752732T>C	ENSP00000414202:p.Met346Val					SAPS1_uc002qjv.2_Missense_Mutation_p.M408V	p.M346V	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	9	1278	-		Renal(1328;0.245)	346			Interaction with PPP6C.		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	c.1036A>G	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.043414	0.00398	.	.	ENSG00000105063	ENST00000412770	T	0.37584	1.19	4.27	3.23	0.37069	.	0.655875	0.14283	N	0.329420	T	0.07863	0.0197	N	0.00128	-2.045	0.23787	N	0.996847	B	0.02656	0.0	B	0.01281	0.0	T	0.30563	-0.9974	10	0.12430	T	0.62	-4.4136	9.4102	0.38487	0.1598:0.0:0.0:0.8402	.	346	Q9UPN7	PP6R1_HUMAN	V	346	ENSP00000414202:M346V	ENSP00000414202:M346V	M	-	1	0	PPP6R1	60444544	0.003000	0.15002	0.941000	0.38009	0.038000	0.13279	1.021000	0.30040	0.772000	0.33382	0.374000	0.22700	ATG		0.667	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		12	40	0	0	0	0	12	40				
ZNF134	7693	broad.mit.edu	37	19	58132398	58132398	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:58132398T>A	ENST00000396161.5	+	3	1221	c.911T>A	c.(910-912)gTt>gAt	p.V304D		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	304					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)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TCTACACTTGTTCAGCATGAG	0.408																																						uc002qpn.2		NA																	0					0						c.(910-912)GTT>GAT		zinc finger protein 134							119.0	122.0	121.0					19																	58132398		2200	4300	6500	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132398T>A	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.911T>A	19.37:g.58132398T>A	ENSP00000379464:p.Val304Asp					ZNF134_uc002qpo.2_Missense_Mutation_p.V131D|ZNF211_uc010yhb.1_5'UTR	p.V304D	NM_003435	NP_003426	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1010	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	304			C2H2-type 7.		Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.911T>A	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824594	0.50739	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.36340	1.26	4.45	-1.54	0.08584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16041	0.0386	N	0.11427	0.14	0.09310	N	1	B	0.33413	0.411	B	0.34242	0.178	T	0.17137	-1.0379	9	0.59425	D	0.04	.	1.4429	0.02358	0.1214:0.2798:0.2477:0.3512	.	304	P52741	ZN134_HUMAN	D	371;224;304	ENSP00000379464:V304D	ENSP00000379464:V304D	V	+	2	0	ZNF134	62824210	0.000000	0.05858	0.004000	0.12327	0.964000	0.63967	0.382000	0.20635	-0.483000	0.06772	0.459000	0.35465	GTT		0.408	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		57	211	0	0	0	0	57	211				
C19orf18	147685	broad.mit.edu	37	19	58472909	58472909	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:58472909G>A	ENST00000314391.3	-	5	483	c.382C>T	c.(382-384)Cag>Tag	p.Q128*		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	128						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TCCTCAGCCTGTGCCAGTCGA	0.428																																						uc002qqv.2		NA																	0				ovary(1)	1						c.(382-384)CAG>TAG		hypothetical protein LOC147685 precursor							119.0	110.0	113.0					19																	58472909		2203	4300	6503	SO:0001587	stop_gained	147685					integral to membrane		g.chr19:58472909G>A	BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.382C>T	19.37:g.58472909G>A	ENSP00000321519:p.Gln128*						p.Q128*	NM_152474	NP_689687	Q8NEA5	CS018_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)	5	486	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	128			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000314391.3	37	c.382C>T	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914460	0.33815	.	.	ENSG00000177025	ENST00000314391	.	.	.	4.14	1.97	0.26223	.	0.156711	0.29767	N	0.011258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-31.4543	5.2997	0.15772	0.0:0.16:0.4854:0.3546	.	.	.	.	X	128	.	ENSP00000321519:Q128X	Q	-	1	0	C19orf18	63164721	0.165000	0.22948	0.009000	0.14445	0.143000	0.21401	1.095000	0.30964	0.558000	0.29135	0.462000	0.41574	CAG		0.428	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474		50	147	0	0	0	0	50	147				
EML4	27436	broad.mit.edu	37	2	42557335	42557335	+	Silent	SNP	G	G	A	rs147316565		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:42557335G>A	ENST00000318522.5	+	23	3196	c.2934G>A	c.(2932-2934)tcG>tcA	p.S978S	EML4_ENST00000402711.2_Silent_p.S920S|EML4_ENST00000401738.3_Silent_p.S989S|EML4_ENST00000453191.2_Silent_p.S242S	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	978			S -> L (in dbSNP:rs28364731).		microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AAGACCCTTCGCCCTCGTCCT	0.517			T	ALK	NSCLC																																	uc002rsi.2		NA		Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(246)	0				lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						c.(2932-2934)TCG>TCA		echinoderm microtubule associated protein like 4		G	,	0,4406		0,0,2203	38.0	33.0	35.0		2760,2934	-11.1	0.0	2	dbSNP_134	35	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EML4	NM_001145076.1,NM_019063.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	920/924,978/982	42557335	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42557335G>A	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2934G>A	2.37:g.42557335G>A						EML4_uc010fap.2_Silent_p.S920S|EML4_uc002rsj.2_Silent_p.S667S|EML4_uc010faq.2_Silent_p.S323S|EML4_uc010ynv.1_Silent_p.S242S	p.S978S	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN			23	3196	+			978					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	ENST00000318522.5	37	c.2934G>A	CCDS1807.1																																																																																				0.517	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		18	45	0	0	0	0	18	45				
GPR75-ASB3	100302652	broad.mit.edu	37	2	53927532	53927532	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:53927532C>G	ENST00000263634.3	-	8	1248	c.1114G>C	c.(1114-1116)Gga>Cga	p.G372R	GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.G299R|ASB3_ENST00000406625.2_Missense_Mutation_p.G407R|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.G410R|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.G299R|GPR75-ASB3_ENST00000482829.1_5'UTR	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		TTCCATGGTCCCAATGAGCAA	0.388																																						uc002rxg.1		NA																	0				ovary(1)|kidney(1)	2						c.(1114-1116)GGA>CGA		ankyrin repeat and SOCS box-containing protein 3							118.0	114.0	115.0					2																	53927532		2203	4300	6503	SO:0001583	missense	51130				intracellular signal transduction			g.chr2:53927532C>G		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.1114G>C	2.37:g.53927532C>G	ENSP00000263634:p.Gly372Arg					ASB3_uc002rxh.1_Missense_Mutation_p.G299R|ASB3_uc002rxi.3_Missense_Mutation_p.G410R|ASB3_uc002rxf.1_RNA	p.G372R	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		8	1249	-			372			ANK 11.			Missense_Mutation	SNP	ENST00000263634.3	37	c.1114G>C	CCDS1846.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.864|7.864	0.726590|0.726590	0.15439|0.15439	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000406053|ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049	.|T;T;T;T;T	.|0.67698	.|-0.23;-0.17;-0.28;-0.28;-0.2	5.56|5.56	0.633|0.633	0.17712|0.17712	.|Ankyrin repeat-containing domain (1);	0.858855|0.858855	0.09946|0.09946	N|N	0.735311|0.735311	T|T	0.53110|0.53110	0.1776|0.1776	L|L	0.42245|0.42245	1.32|1.32	.|.	.|.	.|.	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.06405	.|0.002;0.001	T|T	0.46275|0.46275	-0.9203|-0.9203	5|9	.|0.30078	.|T	.|0.28	-1.8269|-1.8269	5.4011|5.4011	0.16297|0.16297	0.0:0.3783:0.2152:0.4065|0.0:0.3783:0.2152:0.4065	.|.	.|407;372	.|Q2TAI4;Q9Y575	.|.;ASB3_HUMAN	A|R	364|372;407;299;299;410;291	.|ENSP00000263634:G372R;ENSP00000385085:G407R;ENSP00000384728:G299R;ENSP00000378206:G299R;ENSP00000313756:G410R	.|ENSP00000263634:G372R	G|G	-|-	2|1	0|0	ASB3|ASB3	53781036|53781036	0.019000|0.019000	0.18553|0.18553	0.000000|0.000000	0.03702|0.03702	0.787000|0.787000	0.44495|0.44495	-0.099000|-0.099000	0.11007|0.11007	-0.172000|-0.172000	0.10779|0.10779	-0.253000|-0.253000	0.11424|0.11424	GGG|GGA		0.388	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			26	121	0	0	0	0	26	121				
LOXL3	84695	broad.mit.edu	37	2	74777400	74777400	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:74777400C>T	ENST00000264094.3	-	3	460	c.389G>A	c.(388-390)gGg>gAg	p.G130E	DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409249.1_Missense_Mutation_p.G130E|LOXL3_ENST00000409986.1_Missense_Mutation_p.G130E|LOXL3_ENST00000409549.1_Missense_Mutation_p.G130E|LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000393937.2_Missense_Mutation_p.G130E	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	130	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GTCACTGTTCCCCCAGCCCCG	0.587																																						uc002smp.1		NA																	0					0						c.(388-390)GGG>GAG		lysyl oxidase-like 3 precursor							108.0	93.0	98.0					2																	74777400		2203	4300	6503	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74777400C>T	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.389G>A	2.37:g.74777400C>T	ENSP00000264094:p.Gly130Glu					LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Missense_Mutation_p.G130E|LOXL3_uc002smq.1_Missense_Mutation_p.G130E|LOXL3_uc010ffn.1_Missense_Mutation_p.G130E|DOK1_uc002smr.2_Intron	p.G130E	NM_032603	NP_115992	P58215	LOXL3_HUMAN			3	461	-			130			SRCR 1.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.389G>A	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089888	0.94149	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000393937;ENST00000409549;ENST00000409986;ENST00000413469	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	4.98	4.98	0.66077	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	M	0.86420	2.815	0.80722	D	1	B;D;B;D	0.89917	0.075;1.0;0.065;1.0	B;D;B;D	0.97110	0.145;1.0;0.103;0.999	T	0.77778	-0.2460	10	0.62326	D	0.03	.	16.1049	0.81213	0.0:1.0:0.0:0.0	.	130;130;130;130	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	E	130	ENSP00000264094:G130E;ENSP00000387103:G130E;ENSP00000377512:G130E;ENSP00000386696:G130E;ENSP00000386545:G130E;ENSP00000398260:G130E	ENSP00000264094:G130E	G	-	2	0	LOXL3	74630908	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.747000	0.85070	2.470000	0.83445	0.462000	0.41574	GGG		0.587	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		8	148	0	0	0	0	8	148				
SLC9A2	6549	broad.mit.edu	37	2	103324903	103324903	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:103324903G>A	ENST00000233969.2	+	12	2536	c.2394G>A	c.(2392-2394)tcG>tcA	p.S798S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	798					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GGAGGGCATCGGAACCTGGAA	0.567																																						uc002tca.2		NA																	0				central_nervous_system(3)|skin(3)|breast(2)	8						c.(2392-2394)TCG>TCA		solute carrier family 9 (sodium/hydrogen							59.0	70.0	67.0					2																	103324903		2203	4300	6503	SO:0001819	synonymous_variant	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103324903G>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2394G>A	2.37:g.103324903G>A							p.S798S	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			12	2536	+			798			Cytoplasmic (Potential).		B2RMS2	Silent	SNP	ENST00000233969.2	37	c.2394G>A	CCDS2062.1																																																																																				0.567	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			42	97	0	0	0	0	42	97				
LRP1B	53353	broad.mit.edu	37	2	142238095	142238095	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:142238095C>T	ENST00000389484.3	-	3	1184	c.213G>A	c.(211-213)gaG>gaA	p.E71E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	71					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTCTACCTCCTCGGGACCTG	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(211-213)GAG>GAA		low density lipoprotein-related protein 1B							116.0	107.0	110.0					2																	142238095		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142238095C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.213G>A	2.37:g.142238095C>T		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.E71E	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	3	1185	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	71			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.213G>A	CCDS2182.1																																																																																				0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		24	89	0	0	0	0	24	89				
TTN	7273	broad.mit.edu	37	2	179594257	179594257	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:179594257T>A	ENST00000591111.1	-	62	17899	c.17675A>T	c.(17674-17676)gAg>gTg	p.E5892V	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4965V|TTN_ENST00000589042.1_Missense_Mutation_p.E6209V			Q8WZ42	TITIN_HUMAN	titin	12688	Ig-like 40.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTACTACCTCCACAGGCTT	0.468																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14893-14895)GAG>GTG		titin isoform N2-A							95.0	89.0	91.0					2																	179594257		1854	4103	5957	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594257T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17675A>T	2.37:g.179594257T>A	ENSP00000465570:p.Glu5892Val					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1626V	p.E4965V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		61	15118	-			5892					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.14894A>T		.	.	.	.	.	.	.	.	.	.	T	14.55	2.570350	0.45798	.	.	ENSG00000155657	ENST00000342992	T	0.67171	-0.25	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75539	0.3863	L	0.38531	1.155	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.78076	-0.2345	9	0.87932	D	0	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	5892	Q8WZ42	TITIN_HUMAN	V	4965	ENSP00000343764:E4965V	ENSP00000343764:E4965V	E	-	2	0	TTN	179302502	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.698000	0.84413	2.255000	0.74692	0.533000	0.62120	GAG		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	120	0	0	0	0	34	120				
TTN	7273	broad.mit.edu	37	2	179606186	179606186	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:179606186A>T	ENST00000591111.1	-	46	11047	c.10823T>A	c.(10822-10824)gTg>gAg	p.V3608E	TTN_ENST00000359218.5_Missense_Mutation_p.V3687E|TTN_ENST00000460472.2_Missense_Mutation_p.V3562E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V3754E|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V3925E			Q8WZ42	TITIN_HUMAN	titin	13919					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATTTTGCCACTGCTGATTC	0.433																																						uc010zfh.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11260-11262)GTG>GAG		titin isoform novex-2							159.0	153.0	155.0					2																	179606186		1907	4116	6023	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606186A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10823T>A	2.37:g.179606186A>T	ENSP00000465570:p.Val3608Glu					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.V3687E|TTN_uc010zfj.1_Missense_Mutation_p.V3562E|TTN_uc002umz.1_Intron	p.V3754E	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11485	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11261T>A		.	.	.	.	.	.	.	.	.	.	A	4.134	0.023193	0.08006	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.62364	0.08;0.06;0.03	5.87	0.663	0.17885	.	.	.	.	.	T	0.35008	0.0917	N	0.04203	-0.255	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.25012	-1.0144	9	0.87932	D	0	.	4.4391	0.11564	0.6009:0.0:0.1508:0.2483	.	3562;3687;3754	D3DPF9;E7EQE6;E7ET18	.;.;.	E	3562;3754;3687;3562	ENSP00000434586:V3562E;ENSP00000340554:V3754E;ENSP00000352154:V3687E	ENSP00000340554:V3754E	V	-	2	0	TTN	179314431	0.055000	0.20627	0.001000	0.08648	0.233000	0.25261	2.410000	0.44592	0.169000	0.19679	0.533000	0.62120	GTG		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		82	230	0	0	0	0	82	230				
MDH1B	130752	broad.mit.edu	37	2	207611051	207611051	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:207611051C>T	ENST00000374412.3	-	8	1591	c.1316G>A	c.(1315-1317)aGt>aAt	p.S439N	MDH1B_ENST00000454776.2_Missense_Mutation_p.S439N|MDH1B_ENST00000392214.2_Missense_Mutation_p.S226N|MDH1B_ENST00000449792.1_Missense_Mutation_p.S341N	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	439					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TATTTGTTCACTTATTTCAAC	0.393																																					Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2		NA																	0				ovary(3)|kidney(1)	4						c.(1315-1317)AGT>AAT		malate dehydrogenase 1B, NAD (soluble)							160.0	136.0	144.0					2																	207611051		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207611051C>T		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1316G>A	2.37:g.207611051C>T	ENSP00000363533:p.Ser439Asn					MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Missense_Mutation_p.S439N|MDH1B_uc010fuj.2_Missense_Mutation_p.S341N|MDH1B_uc002vbt.2_RNA	p.S439N	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	8	1371	-			439					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.1316G>A	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414784	0.42817	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776;ENST00000392214	T;T;T;T	0.68025	-0.3;-0.3;-0.3;2.56	5.63	-2.93	0.05598	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.593042	0.18571	N	0.137353	T	0.50565	0.1623	L	0.43646	1.37	0.09310	N	1	B;B	0.14012	0.007;0.009	B;B	0.16289	0.005;0.015	T	0.41106	-0.9527	10	0.42905	T	0.14	-8.8114	7.7495	0.28888	0.0:0.2045:0.3587:0.4367	.	439;439	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	N	439;341;439;226	ENSP00000363533:S439N;ENSP00000416577:S341N;ENSP00000389916:S439N;ENSP00000376049:S226N	ENSP00000363533:S439N	S	-	2	0	MDH1B	207319296	0.007000	0.16637	0.016000	0.15963	0.589000	0.36550	-0.161000	0.10026	-0.228000	0.09869	0.591000	0.81541	AGT		0.393	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		32	74	0	0	0	0	32	74				
PAX3	5077	broad.mit.edu	37	2	223163270	223163270	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:223163270C>A	ENST00000350526.4	-	1	201	c.65G>T	c.(64-66)cGt>cTt	p.R22L	PAX3_ENST00000409828.3_Missense_Mutation_p.R22L|PAX3_ENST00000258387.5_Missense_Mutation_p.R22L|PAX3_ENST00000392069.2_Missense_Mutation_p.R22L|PAX3_ENST00000392070.2_Missense_Mutation_p.R22L|PAX3_ENST00000344493.4_Missense_Mutation_p.R22L|PAX3_ENST00000336840.6_Missense_Mutation_p.R22L|CCDC140_ENST00000295226.1_Intron|PAX3_ENST00000409551.3_Missense_Mutation_p.R22L	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	22					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAACCCGCTACGCGGGTAGTT	0.701			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.2		NA		Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	0				soft_tissue(761)|ovary(4)|skin(1)	766						c.(64-66)CGT>CTT		paired box 3 isoform PAX3							8.0	9.0	9.0					2																	223163270		2171	4269	6440	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223163270C>A		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.65G>T	2.37:g.223163270C>A	ENSP00000343052:p.Arg22Leu					PAX3_uc002vmt.1_Missense_Mutation_p.R22L|PAX3_uc002vmy.1_Missense_Mutation_p.R22L|PAX3_uc002vmv.1_Missense_Mutation_p.R22L|PAX3_uc002vmw.1_Missense_Mutation_p.R22L|PAX3_uc002vmx.1_Missense_Mutation_p.R22L|PAX3_uc002vmz.1_Missense_Mutation_p.R22L|PAX3_uc002vna.1_Missense_Mutation_p.R22L|CCDC140_uc002vnb.1_Intron	p.R22L	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	431	-		Renal(207;0.0183)	22					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.65G>T	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569297	0.86439	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99462	-3.54;-3.51;-3.53;-3.51;-3.48;-3.53;-5.93;-5.94	5.22	5.22	0.72569	.	0.105089	0.64402	D	0.000003	D	0.98664	0.9552	L	0.34521	1.04	0.80722	D	1	B;P;P;B;P;P;P	0.46064	0.311;0.868;0.872;0.19;0.553;0.664;0.507	B;P;P;B;B;B;B	0.49999	0.233;0.628;0.6;0.091;0.196;0.313;0.186	D	0.99890	1.1133	10	0.52906	T	0.07	.	18.3632	0.90382	0.0:1.0:0.0:0.0	.	22;22;22;22;22;22;22	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	L	22	ENSP00000375921:R22L;ENSP00000342092:R22L;ENSP00000343052:R22L;ENSP00000375922:R22L;ENSP00000338767:R22L;ENSP00000386750:R22L;ENSP00000386817:R22L;ENSP00000258387:R22L	ENSP00000258387:R22L	R	-	2	0	PAX3	222871514	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.279000	0.78599	2.415000	0.81967	0.655000	0.94253	CGT		0.701	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			6	18	1	0	0.00116845	0.0012234	6	18				
DOCK10	55619	broad.mit.edu	37	2	225670158	225670158	+	Silent	SNP	C	C	T	rs201468439		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:225670158C>T	ENST00000258390.7	-	35	3970	c.3903G>A	c.(3901-3903)gaG>gaA	p.E1301E	DOCK10_ENST00000409592.3_Silent_p.E1295E	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1301					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CACTGCTCTTCTCATTGGTAC	0.423													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20952	0.0		0.0	False		,,,				2504	0.0					uc010fwz.1		NA																	0				ovary(2)	2						c.(3901-3903)GAG>GAA		dedicator of cytokinesis 10							173.0	166.0	168.0					2																	225670158		2081	4215	6296	SO:0001819	synonymous_variant	55619						GTP binding	g.chr2:225670158C>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3903G>A	2.37:g.225670158C>T						DOCK10_uc002vob.2_Silent_p.E1295E|DOCK10_uc002voa.2_5'UTR|DOCK10_uc002voc.2_Silent_p.E155E	p.E1301E	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	35	4142	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1301					B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	c.3903G>A	CCDS46528.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.046	0.563502	0.13498	.	.	ENSG00000135905	ENST00000422684	.	.	.	5.74	4.78	0.61160	.	.	.	.	.	T	0.54743	0.1877	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54098	-0.8344	4	.	.	.	.	5.0585	0.14546	0.0:0.6481:0.0:0.3519	.	.	.	.	K	183	.	.	R	-	2	0	DOCK10	225378402	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.589000	0.36644	1.470000	0.48102	0.561000	0.74099	AGA		0.423	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			16	69	0	0	0	0	16	69				
PYGB	5834	broad.mit.edu	37	20	25239913	25239913	+	Missense_Mutation	SNP	C	C	T	rs370514593		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr20:25239913C>T	ENST00000216962.4	+	2	394	c.284C>T	c.(283-285)aCg>aTg	p.T95M		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	95					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						ATGGGTCGCACGCTGCAGAAC	0.498																																						uc002wup.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(283-285)ACG>ATG		brain glycogen phosphorylase	Pyridoxal Phosphate(DB00114)	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	111.0	111.0	111.0		284	4.4	0.6	20		111	0,8600		0,0,4300	no	missense	PYGB	NM_002862.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	95/844	25239913	1,13005	2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25239913C>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.284C>T	20.37:g.25239913C>T	ENSP00000216962:p.Thr95Met						p.T95M	NM_002862	NP_002853	P11216	PYGB_HUMAN			2	393	+			95					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.284C>T	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204862	0.79127	2.27E-4	0.0	ENSG00000100994	ENST00000216962	D	0.85339	-1.97	4.38	4.38	0.52667	.	0.162156	0.53938	D	0.000045	D	0.82981	0.5155	L	0.58969	1.84	0.80722	D	1	P	0.47962	0.903	B	0.40677	0.337	D	0.85552	0.1222	10	0.52906	T	0.07	-18.073	16.214	0.82191	0.0:1.0:0.0:0.0	.	95	P11216	PYGB_HUMAN	M	95	ENSP00000216962:T95M	ENSP00000216962:T95M	T	+	2	0	PYGB	25187913	1.000000	0.71417	0.650000	0.29550	0.987000	0.75469	7.185000	0.77714	2.431000	0.82371	0.655000	0.94253	ACG		0.498	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		31	102	0	0	0	0	31	102				
PLCG1	5335	broad.mit.edu	37	20	39792085	39792085	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr20:39792085G>T	ENST00000373271.1	+	9	1262	c.857G>T	c.(856-858)cGa>cTa	p.R286L	PLCG1_ENST00000373272.2_Missense_Mutation_p.R286L|PLCG1_ENST00000244007.3_Missense_Mutation_p.R286L	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	286					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GACCCCTTACGAGAGATCGAG	0.567																																						uc002xjp.1		NA																	0				lung(3)|breast(3)|skin(2)	8						c.(856-858)CGA>CTA		phospholipase C, gamma 1 isoform b							60.0	55.0	57.0					20																	39792085		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39792085G>T	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.857G>T	20.37:g.39792085G>T	ENSP00000362368:p.Arg286Leu					PLCG1_uc002xjo.1_Missense_Mutation_p.R286L|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.2_5'Flank	p.R286L	NM_182811	NP_877963	P19174	PLCG1_HUMAN			9	978	+		Myeloproliferative disorder(115;0.00878)	286					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.857G>T	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121339	0.94385	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.18338	2.22;2.22;2.22	5.69	5.69	0.88448	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);	0.058036	0.64402	D	0.000002	T	0.46328	0.1387	M	0.83223	2.63	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.63113	0.911;0.911	T	0.45745	-0.9240	10	0.62326	D	0.03	.	19.8182	0.96579	0.0:0.0:1.0:0.0	.	286;286	P19174;A2A284	PLCG1_HUMAN;.	L	286	ENSP00000244007:R286L;ENSP00000362368:R286L;ENSP00000362369:R286L	ENSP00000244007:R286L	R	+	2	0	PLCG1	39225499	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.419000	0.97397	2.700000	0.92200	0.561000	0.74099	CGA		0.567	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		17	61	1	0	4.35e-09	4.77e-09	17	61				
SERINC3	10955	broad.mit.edu	37	20	43133498	43133498	+	Missense_Mutation	SNP	G	G	A	rs149223322		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr20:43133498G>A	ENST00000342374.4	-	7	975	c.818C>T	c.(817-819)tCc>tTc	p.S273F	SERINC3_ENST00000541235.1_Missense_Mutation_p.S218F|SERINC3_ENST00000255175.1_Missense_Mutation_p.S273F	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	273					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GGTGATGAGGGAGGACTGCAA	0.478																																						uc002xme.2		NA																	0				skin(3)	3						c.(817-819)TCC>TTC		tumor differentially expressed protein 1							145.0	125.0	132.0					20																	43133498		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43133498G>A	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.818C>T	20.37:g.43133498G>A	ENSP00000340243:p.Ser273Phe					SERINC3_uc002xmf.1_Missense_Mutation_p.S273F|SERINC3_uc010ggs.1_Missense_Mutation_p.S266F|SERINC3_uc010zwp.1_Missense_Mutation_p.S218F	p.S273F	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		7	952	-		Myeloproliferative disorder(115;0.0122)	273			Cytoplasmic (Potential).		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.818C>T	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854779	0.91355	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.34	5.34	0.76211	.	0.050241	0.85682	D	0.000000	T	0.61751	0.2372	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.73754	-0.3883	10	0.87932	D	0	.	19.2357	0.93858	0.0:0.0:1.0:0.0	.	273;273	Q53GK8;Q13530	.;SERC3_HUMAN	F	12;273;273;240;218	ENSP00000414197:S12F;ENSP00000255175:S273F;ENSP00000340243:S273F;ENSP00000440966:S218F	ENSP00000255175:S273F	S	-	2	0	SERINC3	42566912	1.000000	0.71417	0.954000	0.39281	0.826000	0.46750	9.560000	0.98139	2.767000	0.95098	0.591000	0.81541	TCC		0.478	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		14	57	0	0	0	0	14	57				
YWHAB	7529	broad.mit.edu	37	20	43530177	43530177	+	Start_Codon_SNP	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr20:43530177G>A	ENST00000372839.3	+	3	277	c.3G>A	c.(1-3)atG>atA	p.M1I	YWHAB_ENST00000353703.4_Start_Codon_SNP_p.M1I|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	1					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				TCTAGGGAATGACAATGGATA	0.473																																						uc002xmt.2		NA																	0				kidney(2)|ovary(1)|breast(1)	4						c.(1-3)ATG>ATA		tyrosine 3-monooxygenase/tryptophan							58.0	61.0	60.0					20																	43530177		2203	4300	6503	SO:0001582	initiator_codon_variant	7529				activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding	g.chr20:43530177G>A	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.3G>A	20.37:g.43530177G>A	ENSP00000361930:p.Met1Ile					YWHAB_uc002xmu.2_Missense_Mutation_p.M1I	p.M1I	NM_003404	NP_003395	P31946	1433B_HUMAN			3	285	+		Myeloproliferative disorder(115;0.0122)	1					A8K9K2|E1P616	Missense_Mutation	SNP	ENST00000372839.3	37	c.3G>A	CCDS13339.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615741	0.28801	.	.	ENSG00000166913	ENST00000353703;ENST00000372839;ENST00000428262;ENST00000445830	T;T	0.41400	1.0;1.0	5.66	1.45	0.22620	.	0.274240	0.32563	N	0.005921	T	0.25717	0.0626	.	.	.	0.31461	N	0.66957	B	0.06786	0.001	B	0.06405	0.002	T	0.17930	-1.0353	9	0.87932	D	0	-1.55	0.9276	0.01328	0.3186:0.1525:0.3725:0.1564	.	1	P31946	1433B_HUMAN	I	1	ENSP00000300161:M1I;ENSP00000361930:M1I	ENSP00000300161:M1I	M	+	3	0	YWHAB	42963591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.637000	0.37155	0.400000	0.25396	0.655000	0.94253	ATG		0.473	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	NM_003404	Missense_Mutation	20	91	0	0	0	0	20	91				
NFATC2	4773	broad.mit.edu	37	20	50139752	50139752	+	Missense_Mutation	SNP	C	C	T	rs374413124		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr20:50139752C>T	ENST00000396009.3	-	2	1247	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	NFATC2_ENST00000609507.1_Missense_Mutation_p.R124H|NFATC2_ENST00000414705.1_Missense_Mutation_p.R323H|NFATC2_ENST00000371564.3_Missense_Mutation_p.R343H|NFATC2_ENST00000610033.1_Missense_Mutation_p.R124H|NFATC2_ENST00000609943.1_Missense_Mutation_p.R323H	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	343					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GTAGATGTGGCGAGGCAGGCC	0.682																																						uc002xwd.2		NA																	0				ovary(2)	2						c.(1027-1029)CGC>CAC		nuclear factor of activated T-cells,		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4403		0,1,2201	38.0	49.0	45.0		968,1028,1028	4.9	1.0	20		45	0,8594		0,0,4297	no	missense,missense,missense	NFATC2	NM_001136021.1,NM_012340.3,NM_173091.2	29,29,29	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	323/902,343/922,343/926	50139752	1,12997	2202	4297	6499	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50139752C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1028G>A	20.37:g.50139752C>T	ENSP00000379330:p.Arg343His					NFATC2_uc002xwc.2_Missense_Mutation_p.R343H|NFATC2_uc010zyv.1_Missense_Mutation_p.R124H|NFATC2_uc010zyw.1_Missense_Mutation_p.R124H|NFATC2_uc010zyx.1_Missense_Mutation_p.R323H|NFATC2_uc010zyy.1_Missense_Mutation_p.R124H|NFATC2_uc010zyz.1_Missense_Mutation_p.R124H|NFATC2_uc002xwe.2_Missense_Mutation_p.R323H	p.R343H	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	1248	-	Hepatocellular(150;0.248)		343					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.1028G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228626	0.39399	2.27E-4	0.0	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.14266	2.52;2.52;2.53	5.8	4.86	0.63082	.	0.289141	0.30428	N	0.009647	T	0.17874	0.0429	L	0.34521	1.04	0.27592	N	0.949248	D;D;D;D	0.71674	0.997;0.997;0.998;0.997	P;P;P;P	0.54100	0.65;0.65;0.742;0.67	T	0.09357	-1.0678	10	0.15066	T	0.55	-25.3543	14.6082	0.68495	0.0:0.9302:0.0:0.0698	.	323;323;343;343	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	H	343;343;124;323	ENSP00000360619:R343H;ENSP00000379330:R343H;ENSP00000396471:R323H	ENSP00000360619:R343H	R	-	2	0	NFATC2	49573159	0.995000	0.38212	0.994000	0.49952	0.200000	0.23975	3.127000	0.50484	1.450000	0.47717	0.455000	0.32223	CGC		0.682	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		6	149	0	0	0	0	6	149				
TPTE	7179	broad.mit.edu	37	21	10934945	10934945	+	Missense_Mutation	SNP	T	T	A	rs550201639	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr21:10934945T>A	ENST00000361285.4	-	15	1177	c.848A>T	c.(847-849)aAt>aTt	p.N283I	TPTE_ENST00000298232.7_Missense_Mutation_p.N265I|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.N245I	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	283	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTGCATAGATTGTAGACTCG	0.328																																						uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(847-849)AAT>ATT		transmembrane phosphatase with tensin homology							262.0	231.0	242.0					21																	10934945		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934945T>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.848A>T	21.37:g.10934945T>A	ENSP00000355208:p.Asn283Ile					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.N265I|TPTE_uc002yir.1_Missense_Mutation_p.N245I|TPTE_uc010gkv.1_Missense_Mutation_p.N145I	p.N283I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	15	1216	-			283			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.848A>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	12.47	1.948177	0.34377	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.30714	1.52;1.52;1.52	2.25	2.25	0.28309	Phosphatase tensin type (1);	0.110120	0.64402	U	0.000012	T	0.57681	0.2070	M	0.92317	3.295	0.49213	D	0.999769	D;D;D	0.89917	0.994;0.994;1.0	D;D;D	0.75484	0.909;0.909;0.986	T	0.61888	-0.6970	10	0.87932	D	0	-46.2964	6.47	0.22003	0.0:0.0:0.0:1.0	.	245;265;283	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	265;283;245	ENSP00000298232:N265I;ENSP00000355208:N283I;ENSP00000344441:N245I	ENSP00000298232:N265I	N	-	2	0	TPTE	9956816	1.000000	0.71417	0.986000	0.45419	0.239000	0.25481	5.852000	0.69488	1.295000	0.44724	0.163000	0.16589	AAT		0.328	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			15	237	0	0	0	0	15	237				
SERPIND1	3053	broad.mit.edu	37	22	21133858	21133858	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr22:21133858C>T	ENST00000215727.5	+	2	541	c.258C>T	c.(256-258)ttC>ttT	p.F86F	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.F86F|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	86	2 X 11 AA approximate repeats, Asp/Glu- rich (acidic) (hirudin-like).				blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	AGAAGATATTCAGTGAAGACG	0.527																																						uc002ztb.1		NA																	0					0						c.(256-258)TTC>TTT		heparin cofactor II precursor	Ardeparin(DB00407)						85.0	74.0	78.0					22																	21133858		2203	4300	6503	SO:0001819	synonymous_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21133858C>T	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.258C>T	22.37:g.21133858C>T						PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.F114F	p.F86F	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	325	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	86			2 X 11 AA approximate repeats, Asp/Glu- rich (acidic) (hirudin-like).		B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	37	c.258C>T	CCDS13783.1																																																																																				0.527	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		29	76	0	0	0	0	29	76				
CNTN6	27255	broad.mit.edu	37	3	1427421	1427421	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:1427421T>C	ENST00000446702.2	+	20	3271	c.2644T>C	c.(2644-2646)Tac>Cac	p.Y882H	CNTN6_ENST00000539053.1_Missense_Mutation_p.Y810H|CNTN6_ENST00000350110.2_Missense_Mutation_p.Y882H			Q9UQ52	CNTN6_HUMAN	contactin 6	882	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CGTAAGAGCTTACAACACTGC	0.443																																						uc003boz.2		NA																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(2644-2646)TAC>CAC		contactin 6 precursor							173.0	173.0	173.0					3																	1427421		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1427421T>C	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2644T>C	3.37:g.1427421T>C	ENSP00000407822:p.Tyr882His					CNTN6_uc011asj.1_Missense_Mutation_p.Y810H|CNTN6_uc003bpa.2_Missense_Mutation_p.Y882H	p.Y882H	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	20	2911	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	882			Fibronectin type-III 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2644T>C	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.125868	0.77436	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.57595	0.39;0.39;0.39	5.75	4.61	0.57282	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000053	T	0.46889	0.1416	L	0.52905	1.665	0.49582	D	0.999805	B	0.28419	0.211	B	0.25614	0.062	T	0.52230	-0.8603	10	0.72032	D	0.01	.	11.1932	0.48698	0.0:0.0711:0.0:0.9289	.	882	Q9UQ52	CNTN6_HUMAN	H	882;810;882	ENSP00000407822:Y882H;ENSP00000442791:Y810H;ENSP00000341882:Y882H	ENSP00000341882:Y882H	Y	+	1	0	CNTN6	1402421	0.977000	0.34250	0.997000	0.53966	0.941000	0.58515	3.724000	0.54962	2.188000	0.69820	0.528000	0.53228	TAC		0.443	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		69	200	0	0	0	0	69	200				
SLC22A14	9389	broad.mit.edu	37	3	38357068	38357068	+	Silent	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:38357068C>G	ENST00000273173.4	+	8	1489	c.1398C>G	c.(1396-1398)ctC>ctG	p.L466L	SLC22A14_ENST00000448498.1_Silent_p.L466L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	466			L -> P (in dbSNP:rs34256819).		organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GCCTCAGACTCAAGTGGCCAC	0.592																																						uc010hhc.1		NA																	0					0						c.(1396-1398)CTC>CTG		organic cation transporter like 4							97.0	86.0	90.0					3																	38357068		2203	4300	6503	SO:0001819	synonymous_variant	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38357068C>G	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1398C>G	3.37:g.38357068C>G						SLC22A14_uc003cib.2_Silent_p.L466L|SLC22A14_uc011ayo.1_RNA	p.L466L	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	9	1440	+			466			Extracellular (Potential).		A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	ENST00000273173.4	37	c.1398C>G	CCDS2677.1																																																																																				0.592	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		6	89	0	0	0	0	6	89				
ZNF445	353274	broad.mit.edu	37	3	44491047	44491047	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:44491047G>C	ENST00000396077.2	-	7	1236	c.889C>G	c.(889-891)Cag>Gag	p.Q297E	ZNF445_ENST00000425708.2_Missense_Mutation_p.Q297E	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	297	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGAGCTGCCTGCATGTTCAGG	0.532																																						uc003cnf.2		NA																	0				ovary(1)	1						c.(889-891)CAG>GAG		zinc finger protein 445							115.0	102.0	107.0					3																	44491047		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44491047G>C	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.889C>G	3.37:g.44491047G>C	ENSP00000379387:p.Gln297Glu					ZNF445_uc011azv.1_Missense_Mutation_p.Q285E|ZNF445_uc011azw.1_Missense_Mutation_p.Q297E	p.Q297E	NM_181489	NP_852466	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	1237	-			297			KRAB.		Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.889C>G	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.330580	0.01298	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674	T;T	0.04970	3.52;3.52	3.84	0.319	0.15873	Krueppel-associated box (1);	1.074070	0.07326	N	0.878437	T	0.03348	0.0097	N	0.16478	0.41	0.09310	N	1	P;P	0.44690	0.841;0.841	B;B	0.36244	0.16;0.22	T	0.39461	-0.9613	10	0.11485	T	0.65	.	7.2928	0.26376	0.3963:0.0:0.6037:0.0	.	285;297	B7ZKX2;P59923	.;ZN445_HUMAN	E	297;297;290	ENSP00000413073:Q297E;ENSP00000379387:Q297E	ENSP00000342436:Q290E	Q	-	1	0	ZNF445	44466051	0.039000	0.19947	0.000000	0.03702	0.006000	0.05464	2.601000	0.46249	0.055000	0.16094	0.484000	0.47621	CAG		0.532	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		3	89	0	0	0	0	3	89				
HTR1F	3355	broad.mit.edu	37	3	88039929	88039929	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:88039929C>G	ENST00000319595.4	+	1	84	c.30C>G	c.(28-30)aaC>aaG	p.N10K		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	10					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CTGATCAAAACTTGACCTCAG	0.373																																						uc003dqr.2		NA																	0				ovary(3)	3						c.(28-30)AAC>AAG		5-hydroxytryptamine (serotonin) receptor 1F	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						92.0	96.0	95.0					3																	88039929		2203	4300	6503	SO:0001583	missense	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88039929C>G	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.30C>G	3.37:g.88039929C>G	ENSP00000322924:p.Asn10Lys						p.N10K	NM_000866	NP_000857	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	2	188	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	10			Extracellular (By similarity).			Missense_Mutation	SNP	ENST00000319595.4	37	c.30C>G	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	C	8.045	0.764792	0.15914	.	.	ENSG00000179097	ENST00000319595	T	0.38401	1.14	5.96	-0.551	0.11822	.	0.175036	0.47852	D	0.000216	T	0.14570	0.0352	N	0.08118	0	0.29242	N	0.872591	B	0.31581	0.329	B	0.25987	0.065	T	0.11060	-1.0603	10	0.62326	D	0.03	.	6.4023	0.21646	0.0:0.4971:0.1221:0.3808	.	10	P30939	5HT1F_HUMAN	K	10	ENSP00000322924:N10K	ENSP00000322924:N10K	N	+	3	2	HTR1F	88122619	0.009000	0.17119	0.998000	0.56505	0.243000	0.25628	-0.479000	0.06567	0.045000	0.15804	0.585000	0.79938	AAC		0.373	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		45	107	0	0	0	0	45	107				
NPHP3	27031	broad.mit.edu	37	3	132407968	132407968	+	Missense_Mutation	SNP	G	G	A	rs553037540	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:132407968G>A	ENST00000337331.5	-	20	2919	c.2833C>T	c.(2833-2835)Ctt>Ttt	p.L945F	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	945					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTTTCATAAAGATCAGCTAAG	0.448																																						uc003epe.1		NA																	0				ovary(1)	1						c.(2833-2835)CTT>TTT		nephrocystin 3							144.0	134.0	137.0					3																	132407968		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132407968G>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2833C>T	3.37:g.132407968G>A	ENSP00000338766:p.Leu945Phe					NPHP3_uc003epd.1_Missense_Mutation_p.L187F	p.L945F	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			20	2910	-			945			TPR 4.		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.2833C>T	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077709	0.76528	.	.	ENSG00000113971	ENST00000393144;ENST00000393156;ENST00000337331	D	0.94758	-3.51	5.86	5.86	0.93980	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95427	0.8513	10	0.25751	T	0.34	-18.6145	20.1858	0.98214	0.0:0.0:1.0:0.0	.	945	Q7Z494	NPHP3_HUMAN	F	225;7;945	ENSP00000338766:L945F	ENSP00000338766:L945F	L	-	1	0	NPHP3	133890658	1.000000	0.71417	0.671000	0.29857	0.345000	0.29048	7.420000	0.80191	2.777000	0.95525	0.591000	0.81541	CTT		0.448	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		31	220	0	0	0	0	31	220				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	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	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		1582	Substitution - Missense(1582)	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	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.(3139-3141)CAT>CGT		phosphoinositide-3-kinase, catalytic, alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	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.chr3:178952085A>G		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.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	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)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			37	77	0	0	0	0	37	77				
DVL3	1857	broad.mit.edu	37	3	183873499	183873499	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:183873499G>A	ENST00000313143.3	+	1	324	c.76G>A	c.(76-78)Gag>Aag	p.E26K	DVL3_ENST00000431765.1_Missense_Mutation_p.E26K|EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000462665.1_3'UTR	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	26	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCTGCCCGCCGAGCGCGTCAC	0.617																																						uc003fms.2		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(76-78)GAG>AAG		dishevelled 3							65.0	60.0	62.0					3																	183873499		2203	4300	6503	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183873499G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.76G>A	3.37:g.183873499G>A	ENSP00000316054:p.Glu26Lys					DVL3_uc011bqw.1_Missense_Mutation_p.E26K|DVL3_uc003fmt.2_5'Flank	p.E26K	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		1	216	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		26			DIX.		B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.76G>A	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	g	24.0	4.479891	0.84747	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.48522	0.81;0.81	3.33	3.33	0.38152	DIX (3);	0.250280	0.32287	U	0.006309	T	0.41190	0.1148	L	0.60012	1.86	0.54753	D	0.999984	P;P	0.52061	0.95;0.95	B;B	0.37550	0.253;0.253	T	0.53472	-0.8434	10	0.59425	D	0.04	-17.2115	13.622	0.62143	0.0:0.0:1.0:0.0	.	26;26	B4E3E5;Q92997	.;DVL3_HUMAN	K	26	ENSP00000316054:E26K;ENSP00000405885:E26K	ENSP00000316054:E26K	E	+	1	0	DVL3	185356193	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.473000	0.90410	1.708000	0.51301	0.400000	0.26472	GAG		0.617	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		24	84	0	0	0	0	24	84				
SLIT2	9353	broad.mit.edu	37	4	20619158	20619158	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:20619158T>A	ENST00000504154.1	+	36	4485	c.4233T>A	c.(4231-4233)gaT>gaA	p.D1411E	SLIT2_ENST00000503837.1_Missense_Mutation_p.D1407E|SLIT2_ENST00000273739.5_Missense_Mutation_p.D1424E|SLIT2_ENST00000503823.1_Missense_Mutation_p.D1403E	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1411					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGAGGAGGATCTGTTTAACC	0.552																																						uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(4231-4233)GAT>GAA		slit homolog 2 precursor							117.0	99.0	105.0					4																	20619158		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20619158T>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4233T>A	4.37:g.20619158T>A	ENSP00000422591:p.Asp1411Glu					SLIT2_uc003gps.1_Missense_Mutation_p.D1403E	p.D1411E	NM_004787	NP_004778	O94813	SLIT2_HUMAN			36	4437	+			1411					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.4233T>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	T	8.768	0.925213	0.18056	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80214	-1.34;-1.35;-1.29;-1.32	5.61	0.0486	0.14285	.	0.342007	0.34291	N	0.004096	T	0.58821	0.2149	N	0.25426	0.745	0.34969	D	0.752922	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40515	-0.9559	10	0.20519	T	0.43	.	0.8263	0.01121	0.1943:0.1634:0.1937:0.4486	.	1403;1411	O94813-3;O94813	.;SLIT2_HUMAN	E	1403;1411;1424;1407;1407	ENSP00000427548:D1403E;ENSP00000422591:D1411E;ENSP00000273739:D1424E;ENSP00000422261:D1407E	ENSP00000273739:D1424E	D	+	3	2	SLIT2	20228256	0.006000	0.16342	0.984000	0.44739	0.678000	0.39670	-1.069000	0.03444	0.401000	0.25424	0.455000	0.32223	GAT		0.552	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			16	51	0	0	0	0	16	51				
KLF3	51274	broad.mit.edu	37	4	38691484	38691484	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:38691484C>T	ENST00000261438.5	+	4	984	c.679C>T	c.(679-681)Caa>Taa	p.Q227*	KLF3_ENST00000514033.1_Nonsense_Mutation_p.Q227*	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	227	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|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(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GTCCCCCCCGCAAGCATTGTT	0.428																																						uc003gth.3		NA																	0				ovary(1)|lung(1)	2						c.(679-681)CAA>TAA		Kruppel-like factor 3 (basic)							135.0	127.0	129.0					4																	38691484		2203	4300	6503	SO:0001587	stop_gained	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38691484C>T	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.679C>T	4.37:g.38691484C>T	ENSP00000261438:p.Gln227*					KLF3_uc003gtg.2_Nonsense_Mutation_p.Q227*	p.Q227*	NM_016531	NP_057615	P57682	KLF3_HUMAN			4	1011	+			227			Pro-rich.		Q6PIR1|Q86TN0|Q9P2X6	Nonsense_Mutation	SNP	ENST00000261438.5	37	c.679C>T	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	C	38	6.831005	0.97869	.	.	ENSG00000109787	ENST00000261438;ENST00000514033	.	.	.	6.17	6.17	0.99709	.	0.220098	0.40385	N	0.001118	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	16.1251	0.81386	0.0:0.8679:0.1321:0.0	.	.	.	.	X	227	.	ENSP00000261438:Q227X	Q	+	1	0	KLF3	38367879	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	3.507000	0.53371	2.941000	0.99782	0.655000	0.94253	CAA		0.428	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			61	205	0	0	0	0	61	205				
ANKRD17	26057	broad.mit.edu	37	4	73990709	73990709	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:73990709T>A	ENST00000358602.4	-	18	3529	c.3413A>T	c.(3412-3414)aAt>aTt	p.N1138I	ANKRD17_ENST00000509867.2_Missense_Mutation_p.N1025I|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.N887I	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1138					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCTGCACCATTGTCCAGCAA	0.463																																						uc003hgp.2		NA																	0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(3412-3414)AAT>ATT		ankyrin repeat domain protein 17 isoform a							150.0	137.0	142.0					4																	73990709		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73990709T>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3413A>T	4.37:g.73990709T>A	ENSP00000351416:p.Asn1138Ile					ANKRD17_uc003hgo.2_Missense_Mutation_p.N1025I|ANKRD17_uc003hgq.2_Missense_Mutation_p.N887I|ANKRD17_uc003hgr.2_Missense_Mutation_p.N1137I|ANKRD17_uc011cbd.1_Missense_Mutation_p.N703I	p.N1138I	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		18	3530	-	Breast(15;0.000295)		1138			ANK 17.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.3413A>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283688	0.80803	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.64803	-0.12;-0.12;-0.12	5.52	5.52	0.82312	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	T	0.65873	0.2733	L	0.33710	1.025	0.46927	D	0.999254	P;P;P;D;P	0.67145	0.769;0.892;0.828;0.996;0.912	P;P;B;P;P	0.60609	0.53;0.467;0.372;0.877;0.602	T	0.68644	-0.5354	10	0.62326	D	0.03	.	11.5467	0.50698	0.0:0.072:0.0:0.928	.	659;1137;887;1138;1025	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	I	1138;887;1025;1138	ENSP00000351416:N1138I;ENSP00000332265:N887I;ENSP00000427151:N1025I	ENSP00000332265:N887I	N	-	2	0	ANKRD17	74209573	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.176000	0.65026	2.088000	0.63022	0.397000	0.26171	AAT		0.463	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		67	172	0	0	0	0	67	172				
HSD17B11	51170	broad.mit.edu	37	4	88312201	88312201	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:88312201G>A	ENST00000358290.4	-	1	337	c.22C>T	c.(22-24)Ctc>Ttc	p.L8F	HSD17B11_ENST00000507286.1_Missense_Mutation_p.L8F	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	8					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AGAAGCAGGAGGATGTCCAGA	0.443																																						uc003hqp.2		NA																	0				ovary(2)	2						c.(22-24)CTC>TTC		estradiol 17-beta-dehydrogenase 11							52.0	60.0	58.0					4																	88312201		2203	4300	6503	SO:0001583	missense	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88312201G>A	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.22C>T	4.37:g.88312201G>A	ENSP00000351035:p.Leu8Phe						p.L8F	NM_016245	NP_057329	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	1	255	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	8					Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	37	c.22C>T	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138543	0.37728	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;D	0.85955	-2.05;-1.93	5.98	-3.11	0.05299	.	0.671685	0.14164	N	0.337157	T	0.68320	0.2988	L	0.33485	1.01	0.20074	N	0.999937	B	0.09022	0.002	B	0.06405	0.002	T	0.51663	-0.8677	10	0.23891	T	0.37	.	0.8147	0.01100	0.2455:0.2932:0.2526:0.2087	.	8	Q8NBQ5	DHB11_HUMAN	F	8	ENSP00000351035:L8F;ENSP00000423775:L8F	ENSP00000351035:L8F	L	-	1	0	HSD17B11	88531225	0.000000	0.05858	0.004000	0.12327	0.118000	0.20060	-0.771000	0.04699	-0.673000	0.05259	0.655000	0.94253	CTC		0.443	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		18	57	0	0	0	0	18	57				
ETNPPL	64850	broad.mit.edu	37	4	109667991	109667991	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:109667991T>A	ENST00000296486.3	-	10	1253	c.1099A>T	c.(1099-1101)Att>Ttt	p.I367F	ETNPPL_ENST00000512646.1_Missense_Mutation_p.I309F|ETNPPL_ENST00000510706.1_Missense_Mutation_p.I327F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.I361F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	367						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TCAATTCCAATAAAAAGGCCA	0.448																																						uc003hzc.2		NA																	0				ovary(1)	1						c.(1099-1101)ATT>TTT		alanine-glyoxylate aminotransferase 2-like 1							148.0	152.0	151.0					4																	109667991		2203	4300	6503	SO:0001583	missense	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109667991T>A	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1099A>T	4.37:g.109667991T>A	ENSP00000296486:p.Ile367Phe					AGXT2L1_uc010imc.2_Missense_Mutation_p.I361F|AGXT2L1_uc011cfm.1_Missense_Mutation_p.I327F|AGXT2L1_uc011cfn.1_Missense_Mutation_p.I294F|AGXT2L1_uc011cfo.1_Missense_Mutation_p.I309F	p.I367F	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	10	1280	-			367					B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.1099A>T	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.487170	0.44249	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.02	1.22	0.21188	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.500976	0.23742	N	0.045015	D	0.88276	0.6393	M	0.72894	2.215	0.38689	D	0.952723	P;P;P	0.46064	0.766;0.723;0.872	P;P;P	0.53006	0.675;0.715;0.58	D	0.85132	0.0975	9	.	.	.	-13.2805	7.866	0.29537	0.0:0.4227:0.0:0.5773	.	309;361;367	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	F	367;361;309;327	ENSP00000296486:I367F;ENSP00000392269:I361F;ENSP00000427065:I309F;ENSP00000423240:I327F	.	I	-	1	0	AGXT2L1	109887440	1.000000	0.71417	0.194000	0.23346	0.457000	0.32468	0.895000	0.28363	0.046000	0.15833	-0.297000	0.09499	ATT		0.448	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		67	202	0	0	0	0	67	202				
SEC24B	10427	broad.mit.edu	37	4	110433145	110433145	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:110433145G>A	ENST00000265175.5	+	9	1864	c.1809G>A	c.(1807-1809)gtG>gtA	p.V603V	SEC24B_ENST00000399100.2_Silent_p.V568V|SEC24B_ENST00000504968.2_Silent_p.V633V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	603					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ATACCATTGTGAGGTGCCGAT	0.388																																						uc003hzk.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1807-1809)GTG>GTA		SEC24 (S. cerevisiae) homolog B isoform a							155.0	141.0	145.0					4																	110433145		1871	4099	5970	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110433145G>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1809G>A	4.37:g.110433145G>A						SEC24B_uc003hzl.2_Silent_p.V568V|SEC24B_uc011cfp.1_Silent_p.V633V|SEC24B_uc011cfq.1_Silent_p.V602V|SEC24B_uc011cfr.1_Silent_p.V567V	p.V603V	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	9	1864	+		Hepatocellular(203;0.217)	603					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.1809G>A	CCDS47124.1																																																																																				0.388	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			40	109	0	0	0	0	40	109				
CFI	3426	broad.mit.edu	37	4	110667591	110667591	+	Missense_Mutation	SNP	G	G	A	rs181729783		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:110667591G>A	ENST00000394634.2	-	11	1423	c.1216C>T	c.(1216-1218)Cgt>Tgt	p.R406C	CFI_ENST00000394635.3_Missense_Mutation_p.R414C|CFI_ENST00000512148.1_Missense_Mutation_p.R399C	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	406	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		ATTACTATACGTTTAAGGTCG	0.333													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16950	0.0		0.0	False		,,,				2504	0.0					uc003hzr.3		NA																	0					0						c.(1216-1218)CGT>TGT		complement factor I preproprotein		G	CYS/ARG	0,4406		0,0,2203	80.0	77.0	78.0		1216	-0.4	0.0	4		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	CFI	NM_000204.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	406/584	110667591	1,13005	2203	4300	6503	SO:0001583	missense	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110667591G>A	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1216C>T	4.37:g.110667591G>A	ENSP00000378130:p.Arg406Cys					CFI_uc003hzq.2_Missense_Mutation_p.R203C|CFI_uc011cft.1_Missense_Mutation_p.R414C|CFI_uc003hzs.3_Missense_Mutation_p.R399C	p.R406C	NM_000204	NP_000195	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	11	1424	-		Hepatocellular(203;0.217)	406			Peptidase S1.		O60442	Missense_Mutation	SNP	ENST00000394634.2	37	c.1216C>T	CCDS34049.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	5.255	0.232554	0.09969	0.0	1.16E-4	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.88975	-2.45;-2.45;-2.45	0.199	-0.397	0.12423	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.167400	0.05959	N	0.640214	D	0.88844	0.6547	L	0.54323	1.7	0.09310	N	1	D;D;D	0.60160	0.984;0.973;0.987	P;B;P	0.54372	0.684;0.275;0.75	T	0.74272	-0.3719	9	0.56958	D	0.05	-1.9519	.	.	.	.	414;399;406	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	C	414;406;399	ENSP00000378131:R414C;ENSP00000378130:R406C;ENSP00000427438:R399C	ENSP00000378130:R406C	R	-	1	0	CFI	110887040	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.664000	0.05292	-1.240000	0.02529	-1.233000	0.01565	CGT		0.333	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		22	72	0	0	0	0	22	72				
MAML3	55534	broad.mit.edu	37	4	140810676	140810676	+	Silent	SNP	C	C	T	rs550080600		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:140810676C>T	ENST00000509479.2	-	2	2770	c.1914G>A	c.(1912-1914)caG>caA	p.Q638Q	MAML3_ENST00000398940.1_Silent_p.Q166Q|MAML3_ENST00000327122.5_Silent_p.Q482Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgttgctgctgctgttgct	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17649	0.0		0.0	False		,,,				2504	0.0					uc003ihz.1		NA																	0				ovary(1)	1						c.(1900-1902)CAG>CAA		mastermind-like 3							65.0	75.0	72.0					4																	140810676		2201	4299	6500	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810676C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1914G>A	4.37:g.140810676C>T						MAML3_uc011chd.1_Intron	p.Q634Q	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN			3	2654	-	all_hematologic(180;0.162)		634			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1902G>A	CCDS54805.1																																																																																				0.592	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			18	42	0	0	0	0	18	42				
FNIP2	57600	broad.mit.edu	37	4	159791528	159791528	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:159791528C>T	ENST00000264433.6	+	14	2931	c.2856C>T	c.(2854-2856)tgC>tgT	p.C952C	FNIP2_ENST00000379346.3_Silent_p.C975C	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	952					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CGGGCTACTGCCCCACATACA	0.522																																						uc003iqe.3		NA																	0					0						c.(2854-2856)TGC>TGT		folliculin interacting protein 2							81.0	84.0	83.0					4																	159791528		2097	4221	6318	SO:0001819	synonymous_variant	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159791528C>T	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2856C>T	4.37:g.159791528C>T							p.C952C	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	14	3039	+	all_hematologic(180;0.24)		952					Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	c.2856C>T	CCDS47155.1																																																																																				0.522	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		4	110	0	0	0	0	4	110				
CDH12	1010	broad.mit.edu	37	5	21760760	21760760	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:21760760C>T	ENST00000382254.1	-	13	2626	c.1540G>A	c.(1540-1542)Gac>Aac	p.D514N	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.D514N|CDH12_ENST00000522262.1_Missense_Mutation_p.D474N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	514	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGATCTCGGTCTGCAGCACTG	0.403										HNSCC(59;0.17)																												uc010iuc.2		NA																	0				ovary(2)	2						c.(1540-1542)GAC>AAC		cadherin 12, type 2 preproprotein							123.0	129.0	127.0					5																	21760760		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21760760C>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1540G>A	5.37:g.21760760C>T	ENSP00000371689:p.Asp514Asn	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.D474N|CDH12_uc003jgk.2_Missense_Mutation_p.D514N|uc003jgj.2_Intron	p.D514N	NM_004061	NP_004052	P55289	CAD12_HUMAN			10	1998	-			514			Extracellular (Potential).|Cadherin 5.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1540G>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	34	5.400639	0.96030	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.73152	-0.72;-0.72;-0.72	5.19	5.19	0.71726	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90017	0.6883	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.93230	0.6616	10	0.87932	D	0	.	19.0842	0.93196	0.0:1.0:0.0:0.0	.	474;514	B7Z2U6;P55289	.;CAD12_HUMAN	N	514;514;474	ENSP00000423577:D514N;ENSP00000371689:D514N;ENSP00000428786:D474N	ENSP00000371689:D514N	D	-	1	0	CDH12	21796517	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.419000	0.80179	2.573000	0.86826	0.650000	0.86243	GAC		0.403	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		62	180	0	0	0	0	62	180				
DROSHA	29102	broad.mit.edu	37	5	31515178	31515178	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:31515178C>T	ENST00000511367.2	-	7	1451	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	DROSHA_ENST00000344624.3_Missense_Mutation_p.E403K|DROSHA_ENST00000513349.1_Missense_Mutation_p.E366K|DROSHA_ENST00000442743.1_Missense_Mutation_p.E366K	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	403					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TCTTCTTCTTCCTCCTCATTC	0.468																																						uc003jhg.2		NA																	0					0						c.(1207-1209)GAA>AAA		ribonuclease III, nuclear isoform 1							172.0	163.0	166.0					5																	31515178		1917	4126	6043	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31515178C>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1207G>A	5.37:g.31515178C>T	ENSP00000425979:p.Glu403Lys					RNASEN_uc003jhh.2_Missense_Mutation_p.E366K|RNASEN_uc003jhi.2_Missense_Mutation_p.E366K|RNASEN_uc010iui.1_Missense_Mutation_p.E326K	p.E403K	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			7	1566	-			403					E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.1207G>A	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.249289|5.249289	0.95305|0.95305	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302|ENST00000512076	T;T;T;T;T|.	0.54866|.	1.42;1.42;0.86;0.86;0.55|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.048128|.	0.85682|.	D|.	0.000000|.	T|T	0.56630|0.56630	0.1998|0.1998	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	D;P;P|.	0.54964|.	0.969;0.596;0.596|.	P;B;B|.	0.50934|.	0.654;0.107;0.107|.	T|T	0.49273|0.49273	-0.8957|-0.8957	10|5	0.42905|.	T|.	0.14|.	-12.7653|-12.7653	19.8465|19.8465	0.96710|0.96710	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	335;366;403|.	Q9NRR4-2;E7EMP9;Q9NRR4|.	.;.;RNC_HUMAN|.	K|E	403;403;366;366;328;359;170|164	ENSP00000425979:E403K;ENSP00000339845:E403K;ENSP00000409335:E366K;ENSP00000424161:E366K;ENSP00000428782:E170K|.	ENSP00000265075:E328K|.	E|G	-|-	1|2	0|0	DROSHA|DROSHA	31550935|31550935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	5.726000|5.726000	0.68515|0.68515	2.769000|2.769000	0.95229|0.95229	0.561000|0.561000	0.74099|0.74099	GAA|GGA		0.468	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		37	192	0	0	0	0	37	192				
UGT3A2	167127	broad.mit.edu	37	5	36037913	36037913	+	Silent	SNP	G	G	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:36037913G>T	ENST00000282507.3	-	6	1382	c.1281C>A	c.(1279-1281)atC>atA	p.I427I	UGT3A2_ENST00000545528.1_Silent_p.I125I|UGT3A2_ENST00000513300.1_Silent_p.I393I|UGT3A2_ENST00000504954.1_5'Flank	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	427					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTCTTCCATGATTTGTTTCA	0.413																																						uc003jjz.1		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1279-1281)ATC>ATA		UDP glycosyltransferase 3 family, polypeptide A2							157.0	143.0	148.0					5																	36037913		2203	4300	6503	SO:0001819	synonymous_variant	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36037913G>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1281C>A	5.37:g.36037913G>T						UGT3A2_uc011cos.1_Silent_p.I393I|UGT3A2_uc011cot.1_Silent_p.I125I	p.I427I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1374	-	all_lung(31;0.000179)		427			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	ENST00000282507.3	37	c.1281C>A	CCDS3914.1																																																																																				0.413	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		61	239	1	0	2.03e-37	2.31e-37	61	239				
NIPBL	25836	broad.mit.edu	37	5	36986340	36986340	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:36986340A>G	ENST00000282516.8	+	10	3557	c.3058A>G	c.(3058-3060)Aga>Gga	p.R1020G	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1020G|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1020					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TATTAAAGATAGAGAGGACAA	0.299																																						uc003jkl.3		NA																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(3058-3060)AGA>GGA		delangin isoform A							93.0	106.0	101.0					5																	36986340		2203	4298	6501	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36986340A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3058A>G	5.37:g.36986340A>G	ENSP00000282516:p.Arg1020Gly					NIPBL_uc003jkk.3_Missense_Mutation_p.R1020G|NIPBL_uc003jkm.1_Missense_Mutation_p.R899G	p.R1020G	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	3557	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1020					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.3058A>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.481670	0.26598	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93906	-3.31;-3.31	6.07	6.07	0.98685	.	0.150760	0.64402	D	0.000013	D	0.87116	0.6097	N	0.24115	0.695	0.41316	D	0.987144	B;B	0.33103	0.276;0.397	B;B	0.28991	0.026;0.097	D	0.85911	0.1440	10	0.37606	T	0.19	.	12.4822	0.55850	0.8607:0.1393:0.0:0.0	.	1020;1020	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	G	1020	ENSP00000282516:R1020G;ENSP00000406266:R1020G	ENSP00000282516:R1020G	R	+	1	2	NIPBL	37022097	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.263000	0.65507	2.326000	0.78906	0.533000	0.62120	AGA		0.299	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		53	156	0	0	0	0	53	156				
CMYA5	202333	broad.mit.edu	37	5	79031362	79031362	+	Silent	SNP	C	C	T	rs201918595		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:79031362C>T	ENST00000446378.2	+	2	6805	c.6774C>T	c.(6772-6774)gaC>gaT	p.D2258D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2258					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATCTGGTGACGGTCAAAACG	0.338													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20429	0.0		0.0	False		,,,				2504	0.0					uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(6772-6774)GAC>GAT		cardiomyopathy associated 5		C		0,3598		0,0,1799	72.0	75.0	74.0		6774	-0.7	0.0	5		74	1,8135		0,1,4067	no	coding-synonymous	CMYA5	NM_153610.3		0,1,5866	TT,TC,CC		0.0123,0.0,0.0085		2258/4070	79031362	1,11733	1799	4068	5867	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79031362C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6774C>T	5.37:g.79031362C>T							p.D2258D	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6846	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2258					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.6774C>T	CCDS47238.1																																																																																				0.338	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		29	123	0	0	0	0	29	123				
MCTP1	79772	broad.mit.edu	37	5	94204039	94204039	+	Splice_Site	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:94204039A>G	ENST00000515393.1	-	17	2434	c.2435T>C	c.(2434-2436)gTg>gCg	p.V812A	MCTP1_ENST00000505208.1_Splice_Site_p.V591A|MCTP1_ENST00000312216.8_Splice_Site_p.V591A|MCTP1_ENST00000505078.1_Splice_Site_p.V328A|MCTP1_ENST00000429576.2_Splice_Site_p.V545A	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	812					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGATCATACCACAAAAGCAGC	0.383																																						uc003kkx.2		NA																	0				ovary(2)	2						c.(2434-2436)GTG>GCG		multiple C2 domains, transmembrane 1 isoform L							71.0	62.0	65.0					5																	94204039		2203	4300	6503	SO:0001630	splice_region_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94204039A>G		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2436+1T>C	5.37:g.94204039A>G						MCTP1_uc003kkv.2_Missense_Mutation_p.V591A|MCTP1_uc003kkw.2_Missense_Mutation_p.V545A|MCTP1_uc003kkz.2_Missense_Mutation_p.V473A|MCTP1_uc003kku.2_Missense_Mutation_p.V328A	p.V812A	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	17	2435	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	812			Helical; (Potential).		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.2435T>C	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792384	0.50102	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568	T;T;T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01	5.7	5.7	0.88788	.	0.122893	0.56097	D	0.000033	T	0.58807	0.2148	L	0.33753	1.03	0.58432	D	0.999999	P;P;P	0.51653	0.947;0.739;0.705	P;B;B	0.47075	0.536;0.34;0.375	T	0.60198	-0.7310	10	0.42905	T	0.14	-13.0309	15.9584	0.79906	1.0:0.0:0.0:0.0	.	812;545;591	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	A	812;545;328;591;532;473;591;413	ENSP00000424126:V812A;ENSP00000391639:V545A;ENSP00000426417:V328A;ENSP00000308957:V591A;ENSP00000423410:V532A;ENSP00000431075:V473A;ENSP00000426438:V591A;ENSP00000426294:V413A	ENSP00000308957:V591A	V	-	2	0	MCTP1	94229795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.927000	0.92846	2.174000	0.68829	0.528000	0.53228	GTG		0.383	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	Missense_Mutation	12	47	0	0	0	0	12	47				
FAM81B	153643	broad.mit.edu	37	5	94764361	94764361	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:94764361G>A	ENST00000283357.5	+	6	757	c.711G>A	c.(709-711)gaG>gaA	p.E237E		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	237						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TCAGGCAAGAGCACCGGCAAA	0.408																																						uc003kla.1		NA																	0				ovary(1)|skin(1)	2						c.(709-711)GAG>GAA		hypothetical protein LOC153643							131.0	121.0	124.0					5																	94764361		1865	4098	5963	SO:0001819	synonymous_variant	153643							g.chr5:94764361G>A		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.711G>A	5.37:g.94764361G>A						FAM81B_uc010jbe.1_Silent_p.E33E	p.E237E	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	6	757	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	237						Silent	SNP	ENST00000283357.5	37	c.711G>A	CCDS43341.1																																																																																				0.408	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		7	240	0	0	0	0	7	240				
SNX2	6643	broad.mit.edu	37	5	122135441	122135441	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:122135441C>T	ENST00000379516.2	+	3	389	c.281C>T	c.(280-282)tCg>tTg	p.S94L	SNX2_ENST00000514949.1_5'UTR|SNX2_ENST00000510372.1_3'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	94					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		ATCCTATCCTCGGAACCTTCT	0.438																																						uc003kte.2		NA																	0				kidney(1)	1						c.(280-282)TCG>TTG		sorting nexin 2							156.0	152.0	153.0					5																	122135441		2203	4300	6503	SO:0001583	missense	6643				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr5:122135441C>T	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"""Sorting nexins"""	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.281C>T	5.37:g.122135441C>T	ENSP00000368831:p.Ser94Leu					SNX2_uc011cwn.1_5'UTR	p.S94L	NM_003100	NP_003091	O60749	SNX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)	3	330	+		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	94					B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	37	c.281C>T	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692622	0.48202	.	.	ENSG00000205302	ENST00000379516;ENST00000505934	T;T	0.47528	0.84;0.84	5.25	5.25	0.73442	.	0.494703	0.22261	N	0.062408	T	0.38825	0.1055	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.15122	-1.0448	10	0.49607	T	0.09	-23.8081	18.8458	0.92205	0.0:1.0:0.0:0.0	.	94	O60749	SNX2_HUMAN	L	94;93	ENSP00000368831:S94L;ENSP00000422413:S93L	ENSP00000368831:S94L	S	+	2	0	SNX2	122163340	1.000000	0.71417	0.865000	0.33974	0.994000	0.84299	4.441000	0.59981	2.465000	0.83290	0.650000	0.86243	TCG		0.438	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		60	233	0	0	0	0	60	233				
PCDHA8	56140	broad.mit.edu	37	5	140222262	140222262	+	Silent	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140222262T>C	ENST00000531613.1	+	1	1356	c.1356T>C	c.(1354-1356)gcT>gcC	p.A452A	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.A452A|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	452	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(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAATGCTCCGGCGTTCG	0.672																																						uc003lhs.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1354-1356)GCT>GCC		protocadherin alpha 8 isoform 1 precursor							63.0	65.0	64.0					5																	140222262		2194	4266	6460	SO:0001819	synonymous_variant	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222262T>C	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1356T>C	5.37:g.140222262T>C						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_uc003lhr.1_Silent_p.A452A	p.A452A	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1356	+			452			Cadherin 4.|Extracellular (Potential).		B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.1356T>C	CCDS54919.1																																																																																				0.672	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		37	101	0	0	0	0	37	101				
PCDHA9	9752	broad.mit.edu	37	5	140229433	140229433	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140229433C>T	ENST00000532602.1	+	1	2386	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.N451N|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	451	Cadherin 4. {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(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCACCAGCGT	0.672																																					Melanoma(55;1800 1972 14909)	uc003lhu.2		NA																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(1351-1353)AAC>AAT		protocadherin alpha 9 isoform 1 precursor							90.0	83.0	85.0					5																	140229433		2196	4270	6466	SO:0001819	synonymous_variant	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229433C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1353C>T	5.37:g.140229433C>T						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_uc003lht.1_Silent_p.N451N	p.N451N	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2077	+			451			Cadherin 4.|Extracellular (Potential).		O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1353C>T	CCDS54920.1																																																																																				0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		6	155	0	0	0	0	6	155				
PCDHB2	56133	broad.mit.edu	37	5	140475977	140475977	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140475977G>A	ENST00000194155.4	+	1	1751	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGTGGGCGCCGCAGACCG	0.692																																						uc003lil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1603-1605)GCC>ACC		protocadherin beta 2 precursor							52.0	58.0	56.0					5																	140475977		2203	4300	6503	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475977G>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1603G>A	5.37:g.140475977G>A	ENSP00000194155:p.Ala535Thr					PCDHB2_uc003lim.1_Missense_Mutation_p.A196T	p.A535T	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1741	+			535			Extracellular (Potential).|Cadherin 5.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1603G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719449	0.89205	.	.	ENSG00000112852	ENST00000194155	T	0.75589	-0.95	4.5	4.5	0.54988	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.92535	0.7629	H	0.99516	4.605	0.53688	D	0.999976	D	0.89917	1.0	D	0.85130	0.997	D	0.96121	0.9085	9	0.87932	D	0	.	17.2624	0.87073	0.0:0.0:1.0:0.0	.	535	Q9Y5E7	PCDB2_HUMAN	T	535	ENSP00000194155:A535T	ENSP00000194155:A535T	A	+	1	0	PCDHB2	140456161	1.000000	0.71417	0.979000	0.43373	0.865000	0.49528	9.587000	0.98229	2.223000	0.72356	0.556000	0.70494	GCC		0.692	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		16	90	0	0	0	0	16	90				
PCDHB11	56125	broad.mit.edu	37	5	140579470	140579470	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140579470C>T	ENST00000354757.3	+	1	123	c.123C>T	c.(121-123)agC>agT	p.S41S	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	41	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			AAATGCAGAGCGGGAGTTTTG	0.522																																						uc003liy.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(121-123)AGC>AGT		protocadherin beta 11 precursor							78.0	88.0	85.0					5																	140579470		2203	4300	6503	SO:0001819	synonymous_variant	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579470C>T	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.123C>T	5.37:g.140579470C>T						PCDHB11_uc011daj.1_Intron	p.S41S	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	123	+			41			Extracellular (Potential).|Cadherin 1.		B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	c.123C>T	CCDS4253.1																																																																																				0.522	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		36	123	0	0	0	0	36	123				
PCDHGA1	56114	broad.mit.edu	37	5	140711947	140711947	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140711947G>A	ENST00000517417.1	+	1	1696	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A566T	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	566					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTACCCCGCCCTCCCCAC	0.667																																						uc003lji.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(1696-1698)GCC>ACC		protocadherin gamma subfamily A, 1 isoform 1							104.0	118.0	114.0					5																	140711947		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140711947G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1696G>A	5.37:g.140711947G>A	ENSP00000431083:p.Ala566Thr					PCDHGA1_uc011dan.1_Missense_Mutation_p.A566T	p.A566T	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1696	+			566			Extracellular (Potential).		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1696G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	0.106	-1.145671	0.01714	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.50548	0.79;0.74	3.82	-0.687	0.11320	Cadherin-like (1);	1.216370	0.06161	N	0.675987	T	0.30854	0.0778	L	0.39514	1.22	0.09310	N	1	B;B	0.20780	0.011;0.048	B;B	0.15484	0.013;0.01	T	0.15150	-1.0447	10	0.18276	T	0.48	.	0.282	0.00246	0.3358:0.1405:0.2635:0.2601	.	566;566	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	T	566	ENSP00000431083:A566T;ENSP00000367345:A566T	ENSP00000367345:A566T	A	+	1	0	PCDHGA1	140692131	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-3.332000	0.00509	-0.249000	0.09569	-0.310000	0.09108	GCC		0.667	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		78	201	0	0	0	0	78	201				
PCDHGA5	56110	broad.mit.edu	37	5	140743969	140743969	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140743969C>A	ENST00000518069.1	+	1	72	c.72C>A	c.(70-72)tgC>tgA	p.C24*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	24					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCTGTGCGAGCCAGGAT	0.627																																						uc003lju.1		NA																	0				ovary(4)	4						c.(70-72)TGC>TGA		protocadherin gamma subfamily A, 5 isoform 1							31.0	40.0	37.0					5																	140743969		2126	4273	6399	SO:0001587	stop_gained	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140743969C>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.72C>A	5.37:g.140743969C>A	ENSP00000429834:p.Cys24*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Nonsense_Mutation_p.C24*	p.C24*	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	72	+			24					Q2M3F5|Q9Y5D2	Nonsense_Mutation	SNP	ENST00000518069.1	37	c.72C>A	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	17.73	3.460399	0.63401	.	.	ENSG00000253485	ENST00000518069	.	.	.	5.42	1.71	0.24356	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	8.5205	0.33273	0.0:0.1787:0.3009:0.5204	.	.	.	.	X	24	.	ENSP00000429834:C24X	C	+	3	2	PCDHGA5	140724153	0.002000	0.14202	0.032000	0.17829	0.021000	0.10359	0.093000	0.15086	0.096000	0.17463	-0.253000	0.11424	TGC		0.627	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		13	43	1	0	2.27e-07	2.45e-07	13	43				
PCDHGA10	56106	broad.mit.edu	37	5	140794626	140794626	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140794626C>T	ENST00000398610.2	+	1	1884	c.1884C>T	c.(1882-1884)ggC>ggT	p.G628G	PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	628	Cadherin 6. {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(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACACGGGCGAGGTGCGCA	0.697																																						uc003lkl.1		NA																	0					0						c.(1882-1884)GGC>GGT		protocadherin gamma subfamily A, 10 isoform 1							43.0	52.0	49.0					5																	140794626		2202	4297	6499	SO:0001819	synonymous_variant	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140794626C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1884C>T	5.37:g.140794626C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.G628G|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	p.G628G	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1884	+			628			Cadherin 6.|Extracellular (Potential).		Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.1884C>T	CCDS47292.1																																																																																				0.697	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		28	104	0	0	0	0	28	104				
PCDH12	51294	broad.mit.edu	37	5	141336333	141336333	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:141336333G>A	ENST00000231484.3	-	1	2294	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	362	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGACACCAGTGATGGCTGG	0.502																																						uc003llx.2		NA																	0				ovary(3)	3						c.(1084-1086)CTG>TTG		protocadherin 12 precursor							140.0	127.0	131.0					5																	141336333		2203	4300	6503	SO:0001819	synonymous_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336333G>A	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1084C>T	5.37:g.141336333G>A							p.L362L	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2295	-		all_hematologic(541;0.0999)	362			Cadherin 4.|Extracellular (Potential).		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	c.1084C>T	CCDS4269.1																																																																																				0.502	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		46	169	0	0	0	0	46	169				
GEMIN5	25929	broad.mit.edu	37	5	154305443	154305443	+	Silent	SNP	G	G	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:154305443G>T	ENST00000285873.7	-	8	1347	c.1272C>A	c.(1270-1272)ggC>ggA	p.G424G		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	424					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGACTTCACGCCTTGCCAAA	0.373																																						uc003lvx.3		NA																	0				skin(2)|ovary(1)	3						c.(1270-1272)GGC>GGA		gemin 5							71.0	73.0	72.0					5																	154305443		2203	4300	6503	SO:0001819	synonymous_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154305443G>T	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.1272C>A	5.37:g.154305443G>T						GEMIN5_uc011ddk.1_Silent_p.G423G	p.G424G	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		8	1355	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	424			WD 8.		Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	c.1272C>A	CCDS4330.1																																																																																				0.373	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			25	101	1	0	1.64e-13	1.83e-13	25	101				
MAS1L	116511	broad.mit.edu	37	6	29454873	29454873	+	Silent	SNP	C	C	T	rs574752980		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:29454873C>T	ENST00000377127.3	-	1	865	c.807G>A	c.(805-807)tcG>tcA	p.S269S		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	269					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						ACATGGGGGCCGAGATCTGCA	0.517																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.1		NA																	0				ovary(7)|lung(2)	9						c.(805-807)TCG>TCA		MAS1 oncogene-like							36.0	38.0	38.0					6																	29454873		2203	4300	6503	SO:0001819	synonymous_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454873C>T	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.807G>A	6.37:g.29454873C>T							p.S269S	NM_052967	NP_443199	P35410	MAS1L_HUMAN			1	807	-			269			Helical; Name=6; (Potential).		Q5SUN5	Silent	SNP	ENST00000377127.3	37	c.807G>A	CCDS4661.1																																																																																				0.517	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		18	60	0	0	0	0	18	60				
DDR1	780	broad.mit.edu	37	6	30865889	30865889	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:30865889C>T	ENST00000324771.8	+	18	2804	c.2256C>T	c.(2254-2256)tcC>tcT	p.S752S	DDR1_ENST00000452441.1_Silent_p.S752S|DDR1_ENST00000376567.2_Silent_p.S715S|DDR1_ENST00000376568.3_Silent_p.S752S|DDR1_ENST00000513240.1_Silent_p.S758S|DDR1_ENST00000376569.3_Silent_p.S715S|DDR1_ENST00000418800.2_Silent_p.S715S|DDR1_ENST00000376575.3_Silent_p.S758S|DDR1_ENST00000508312.1_Silent_p.S733S|DDR1_ENST00000361741.4_Silent_p.S419S|DDR1_ENST00000376570.4_Silent_p.S715S|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000454612.2_Silent_p.S715S			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	752	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGATCGCCTCCGGCATGCGCT	0.562																																						uc003nrr.2		NA																	0				lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(2254-2256)TCC>TCT		discoidin domain receptor family, member 1	Imatinib(DB00619)						48.0	47.0	48.0					6																	30865889		2203	4300	6503	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30865889C>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2256C>T	6.37:g.30865889C>T						DDR1_uc010jse.2_Silent_p.S715S|DDR1_uc003nrq.2_Silent_p.S715S|DDR1_uc003nrs.2_Silent_p.S752S|DDR1_uc003nrt.2_Silent_p.S715S|DDR1_uc011dms.1_Silent_p.S733S|DDR1_uc003nru.2_Silent_p.S715S|DDR1_uc003nrv.2_Silent_p.S758S|DDR1_uc003nrw.1_Silent_p.S487S|DDR1_uc003nrz.1_Silent_p.S77S	p.S752S	NM_013993	NP_054699	Q08345	DDR1_HUMAN			17	2515	+			752			Cytoplasmic (Potential).|Protein kinase.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.2256C>T	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	7.401	0.632796	0.14322	.	.	ENSG00000204580	ENST00000484556	.	.	.	4.96	-9.92	0.00455	.	.	.	.	.	T	0.20820	0.0501	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58758	-0.7580	4	.	.	.	.	5.213	0.15327	0.0951:0.1404:0.4126:0.3519	.	.	.	.	L	109	.	.	P	+	2	0	DDR1	30973868	0.000000	0.05858	0.016000	0.15963	0.917000	0.54804	-6.312000	0.00071	-4.840000	0.00030	-1.320000	0.01293	CCG		0.562	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		6	47	0	0	0	0	6	47				
NELFE	7936	broad.mit.edu	37	6	31922355	31922355	+	Missense_Mutation	SNP	C	C	T	rs555434140		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:31922355C>T	ENST00000375429.3	-	7	945	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	NELFE_ENST00000375425.5_Missense_Mutation_p.R247Q|NELFE_ENST00000444811.2_Missense_Mutation_p.R210Q|MIR1236_ENST00000408340.1_RNA	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	240	30 X 2 AA approximate tandem repeats of R-[DSNE].				gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|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)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										Ctctcggtctcggtctcgatc	0.577																																						uc003nyk.2		NA																	0					0						c.(718-720)CGA>CAA		RD RNA-binding protein							52.0	58.0	56.0					6																	31922355		2203	4300	6503	SO:0001583	missense	7936				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr6:31922355C>T	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.719G>A	6.37:g.31922355C>T	ENSP00000364578:p.Arg240Gln					RDBP_uc011dot.1_Missense_Mutation_p.R210Q|RDBP_uc003nyl.1_Missense_Mutation_p.R180Q|RDBP_uc003nym.1_Missense_Mutation_p.R235Q	p.R240Q	NM_002904	NP_002895	P18615	NELFE_HUMAN			7	923	-			240			29.|30 X 2 AA approximate tandem repeats of R-[DSNE].		A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	c.719G>A	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919383	0.73098	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289	T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.71358	0.3330	M	0.74647	2.275	0.58432	D	0.999997	D;D;D;D	0.76494	0.997;0.999;0.997;0.997	D;D;D;D	0.72625	0.953;0.978;0.968;0.953	T	0.71303	-0.4633	10	0.46703	T	0.11	-5.5318	18.1657	0.89724	0.0:1.0:0.0:0.0	.	210;235;235;240	B4DUN1;A2ABK1;E9PCL7;P18615	.;.;.;NELFE_HUMAN	Q	240;247;210;235;240;235	ENSP00000364578:R240Q;ENSP00000364574:R247Q;ENSP00000388400:R210Q;ENSP00000397914:R235Q;ENSP00000409389:R240Q;ENSP00000414029:R235Q	ENSP00000364574:R247Q	R	-	2	0	RDBP	32030334	0.999000	0.42202	0.972000	0.41901	0.965000	0.64279	6.288000	0.72679	2.587000	0.87381	0.655000	0.94253	CGA		0.577	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			15	38	0	0	0	0	15	38				
EGFL8	80864	broad.mit.edu	37	6	32134330	32134330	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:32134330T>C	ENST00000395512.1	+	3	262	c.157T>C	c.(157-159)Tac>Cac	p.Y53H	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.Y53H|AGPAT1_ENST00000490711.1_5'Flank			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	53	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CAACGAGTCCTACAGCCAACC	0.592																																						uc003oab.1		NA																	0					0						c.(157-159)TAC>CAC		NG3 protein precursor							115.0	101.0	106.0					6																	32134330		1511	2709	4220	SO:0001583	missense	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32134330T>C	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.157T>C	6.37:g.32134330T>C	ENSP00000378888:p.Tyr53His					PPT2_uc003nzy.1_RNA|PPT2_uc010jtu.1_3'UTR|EGFL8_uc003oac.1_Missense_Mutation_p.Y53H	p.Y53H	NM_030652	NP_085155	Q99944	EGFL8_HUMAN			3	215	+			53			EMI.		B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	ENST00000395512.1	37	c.157T>C	CCDS4743.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.338171	0.81911	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	T;T;T	0.42900	0.96;0.96;0.96	5.93	5.93	0.95920	EMI domain (2);	.	.	.	.	T	0.43055	0.1230	L	0.41710	1.295	0.47476	D	0.999438	D	0.89917	1.0	D	0.91635	0.999	T	0.31641	-0.9936	9	0.28530	T	0.3	-24.0954	12.7716	0.57423	0.0:0.0:0.0:1.0	.	53	Q99944	EGFL8_HUMAN	H	53	ENSP00000333380:Y53H;ENSP00000378888:Y53H;ENSP00000401694:Y53H	ENSP00000333380:Y53H	Y	+	1	0	EGFL8	32242308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.924000	0.56476	2.271000	0.75665	0.533000	0.62120	TAC		0.592	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		30	128	0	0	0	0	30	128				
DAXX	1616	broad.mit.edu	37	6	33288742	33288742	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:33288742G>A	ENST00000374542.5	-	3	1014	c.810C>T	c.(808-810)cgC>cgT	p.R270R	DAXX_ENST00000266000.6_Silent_p.R270R|DAXX_ENST00000414083.2_Silent_p.R195R|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	270	Interaction with histone H3.3.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCCGCTCAATGCGCCTGTTAA	0.597			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	uc003oec.2		NA		Rec	yes		6	6p21.3	1616	Mis|F|N	death-domain associated protein			E			Pancreatic neuroendocrine tumors		0				pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						c.(808-810)CGC>CGT		death-domain associated protein isoform a							87.0	73.0	78.0					6																	33288742		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33288742G>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.810C>T	6.37:g.33288742G>A						DAXX_uc011drd.1_Silent_p.R195R|DAXX_uc011dre.1_Silent_p.R282R|DAXX_uc003oed.2_Silent_p.R270R|DAXX_uc010juw.2_Silent_p.R195R	p.R270R	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN			3	1014	-			270					B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.810C>T	CCDS4776.1																																																																																				0.597	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			51	121	0	0	0	0	51	121				
GPRC6A	222545	broad.mit.edu	37	6	117127943	117127943	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:117127943T>C	ENST00000310357.3	-	3	946	c.925A>G	c.(925-927)Acc>Gcc	p.T309A	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Missense_Mutation_p.T309A	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	309					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTAATCTTGGTGGCAGTTGAC	0.348																																						uc003pxj.1		NA																	0				ovary(4)|skin(2)	6						c.(925-927)ACC>GCC		G protein-coupled receptor, family C, group 6,							116.0	115.0	115.0					6																	117127943		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117127943T>C	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.925A>G	6.37:g.117127943T>C	ENSP00000309493:p.Thr309Ala					GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.T309A	p.T309A	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	3	947	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	309			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.925A>G	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.420761	0.25639	.	.	ENSG00000173612	ENST00000310357;ENST00000368549	D;D	0.82344	-1.6;-1.6	6.16	0.799	0.18667	Extracellular ligand-binding receptor (1);	0.764087	0.11557	N	0.552206	T	0.31702	0.0805	N	0.03948	-0.315	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.001;0.006	T	0.33752	-0.9856	10	0.09084	T	0.74	.	2.9422	0.05834	0.3263:0.3225:0.0:0.3511	.	309;309	Q5T6X5-3;Q5T6X5	.;GPC6A_HUMAN	A	309	ENSP00000309493:T309A;ENSP00000357537:T309A	ENSP00000309493:T309A	T	-	1	0	GPRC6A	117234636	0.950000	0.32346	0.804000	0.32291	0.988000	0.76386	0.584000	0.23864	0.534000	0.28695	0.528000	0.53228	ACC		0.348	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			38	130	0	0	0	0	38	130				
RPS6KA2	6196	broad.mit.edu	37	6	166831722	166831722	+	Silent	SNP	G	G	A	rs149521975	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:166831722G>A	ENST00000265678.4	-	19	2152	c.1929C>T	c.(1927-1929)gaC>gaT	p.D643D	RPS6KA2_ENST00000481261.2_Silent_p.D554D|RPS6KA2_ENST00000405189.3_Silent_p.D554D|RPS6KA2_ENST00000503859.1_Silent_p.D651D|RPS6KA2_ENST00000510118.1_Silent_p.D668D|RPS6KA2_ENST00000509742.1_5'UTR	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	643	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTTTAGCTGCGTCAGATATCG	0.473													g|||	3	0.000599042	0.0008	0.0014	5008	,	,		16972	0.0		0.0	False		,,,				2504	0.001					uc003qvb.1		NA																	0				ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1927-1929)GAC>GAT		ribosomal protein S6 kinase, 90kDa, polypeptide		G	,	0,4406		0,0,2203	98.0	94.0	95.0		1953,1929	-8.8	0.0	6	dbSNP_134	95	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	RPS6KA2	NM_001006932.1,NM_021135.4	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	651/742,643/734	166831722	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166831722G>A	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1929C>T	6.37:g.166831722G>A						RPS6KA2_uc011ego.1_Silent_p.D554D|RPS6KA2_uc010kkl.1_Silent_p.D554D|RPS6KA2_uc003qvc.1_Silent_p.D651D|RPS6KA2_uc003qvd.1_Silent_p.D668D|RPS6KA2_uc010kkk.1_Silent_p.D75D	p.D643D	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	19	2148	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	643			Protein kinase 2.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	c.1929C>T	CCDS5294.1																																																																																				0.473	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		42	149	0	0	0	0	42	149				
THSD7A	221981	broad.mit.edu	37	7	11630143	11630143	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:11630143C>T	ENST00000423059.4	-	4	1648	c.1397G>A	c.(1396-1398)tGc>tAc	p.C466Y		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	466	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGCCTGCACGCAGTACACCTC	0.532										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.(1396-1398)TGC>TAC		thrombospondin, type I, domain containing 7A							78.0	83.0	82.0					7																	11630143		1964	4150	6114	SO:0001583	missense	221981					integral to membrane		g.chr7:11630143C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1397G>A	7.37:g.11630143C>T	ENSP00000406482:p.Cys466Tyr	HNSCC(18;0.044)					p.C466Y	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	4	1649	-			466			Extracellular (Potential).|TSP type-1 4.			Missense_Mutation	SNP	ENST00000423059.4	37	c.1397G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091176	0.76756	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.69040	-0.37	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.87398	0.6167	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89642	0.3863	10	0.72032	D	0.01	.	20.0545	0.97645	0.0:1.0:0.0:0.0	.	466	Q9UPZ6	THS7A_HUMAN	Y	466	ENSP00000406482:C466Y	ENSP00000262042:C466Y	C	-	2	0	THSD7A	11596668	1.000000	0.71417	0.964000	0.40570	0.365000	0.29674	7.818000	0.86416	2.748000	0.94277	0.655000	0.94253	TGC		0.532	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		19	76	0	0	0	0	19	76				
CCDC129	223075	broad.mit.edu	37	7	31617732	31617732	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:31617732T>C	ENST00000407970.3	+	8	892	c.854T>C	c.(853-855)gTt>gCt	p.V285A	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.V311A|CCDC129_ENST00000409210.1_Missense_Mutation_p.V193A	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	285										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GAAGTTTTTGTTCCCTTTACA	0.438																																						uc003tcj.1		NA																	0					0						c.(853-855)GTT>GCT		coiled-coil domain containing 129							56.0	58.0	57.0					7																	31617732		2201	4300	6501	SO:0001583	missense	223075							g.chr7:31617732T>C	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.854T>C	7.37:g.31617732T>C	ENSP00000384416:p.Val285Ala					CCDC129_uc011kad.1_Missense_Mutation_p.V295A|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Missense_Mutation_p.V311A|CCDC129_uc003tck.1_Missense_Mutation_p.V193A	p.V285A	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			8	1847	+			285					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.854T>C	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	T	10.37	1.332640	0.24167	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.18016	2.5;2.49;2.24	5.08	-0.503	0.12000	.	.	.	.	.	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.41805	-0.9488	8	.	.	.	0.021	4.8092	0.13335	0.0:0.3378:0.3283:0.3339	.	311;295;285	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	A	285;311;295;193	ENSP00000384416:V285A;ENSP00000395835:V311A;ENSP00000387214:V193A	.	V	+	2	0	CCDC129	31584257	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.063000	0.03465	0.037000	0.15575	0.533000	0.62120	GTT		0.438	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		15	28	0	0	0	0	15	28				
ZNF716	441234	broad.mit.edu	37	7	57528992	57528992	+	Silent	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:57528992C>G	ENST00000420713.1	+	4	937	c.825C>G	c.(823-825)ggC>ggG	p.G275G		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAGAACGTGGCAAAGTCTTTA	0.423																																						uc011kdi.1		NA																	0				ovary(2)	2						c.(823-825)GGC>GGG		zinc finger protein 716							53.0	51.0	52.0					7																	57528992		692	1591	2283	SO:0001819	synonymous_variant	441234							g.chr7:57528992C>G	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.825C>G	7.37:g.57528992C>G							p.G275G	NM_001159279	NP_001152751					4	937	+									Silent	SNP	ENST00000420713.1	37	c.825C>G	CCDS55112.1																																																																																				0.423	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		13	39	0	0	0	0	13	39				
ALKBH4	54784	broad.mit.edu	37	7	102097843	102097843	+	Nonstop_Mutation	SNP	A	A	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:102097843A>T	ENST00000292566.3	-	3	946	c.907T>A	c.(907-909)Tga>Aga	p.*303R		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	0					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						GAGGCGGTTCACACGGGTCTT	0.602																																						uc003uzl.2		NA																	0					0						c.(907-909)TGA>AGA		alkB, alkylation repair homolog 4							57.0	51.0	53.0					7																	102097843		2203	4300	6503	SO:0001578	stop_lost	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102097843A>T	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"""Alkylation repair homologs"""	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.907T>A	7.37:g.102097843A>T						ALKBH4_uc003uzm.2_Nonstop_Mutation_p.*230R	p.*303R	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN			3	912	-			303					Q53H92|Q9H6A4	Nonstop_Mutation	SNP	ENST00000292566.3	37	c.907T>A	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	A	8.358	0.832561	0.16820	.	.	ENSG00000160993	ENST00000292566	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8348	0.63402	1.0:0.0:0.0:0.0	.	.	.	.	R	303	.	.	X	-	1	0	ALKBH4	101884848	1.000000	0.71417	0.579000	0.28588	0.058000	0.15608	8.041000	0.89428	1.855000	0.53841	0.459000	0.35465	TGA		0.602	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		20	95	0	0	0	0	20	95				
TAS2R41	259287	broad.mit.edu	37	7	143175526	143175526	+	Silent	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:143175526C>A	ENST00000408916.1	+	1	561	c.561C>A	c.(559-561)gtC>gtA	p.V187V	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	187					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGAAACTGGTCATCTGGTCAA	0.378																																						uc003wdc.1		NA																	0				pancreas(1)|skin(1)	2						c.(559-561)GTC>GTA		taste receptor, type 2, member 41							72.0	72.0	72.0					7																	143175526		1875	4112	5987	SO:0001819	synonymous_variant	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175526C>A	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.561C>A	7.37:g.143175526C>A						uc003wda.2_Intron	p.V187V	NM_176883	NP_795364	P59536	T2R41_HUMAN			1	561	+	Melanoma(164;0.15)		187			Helical; Name=5; (Potential).		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Silent	SNP	ENST00000408916.1	37	c.561C>A	CCDS43663.1																																																																																				0.378	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			20	93	1	0	5.04e-11	5.58e-11	20	93				
DCAF4L2	138009	broad.mit.edu	37	8	88886033	88886033	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:88886033C>A	ENST00000319675.3	-	1	263	c.167G>T	c.(166-168)aGg>aTg	p.R56M		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	56										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GACCTTTTTCCTCTGCATGCA	0.507																																						uc003ydz.2		NA																	0				ovary(1)	1						c.(166-168)AGG>ATG		WD repeat domain 21C							123.0	112.0	116.0					8																	88886033		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88886033C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.167G>T	8.37:g.88886033C>A	ENSP00000316496:p.Arg56Met						p.R56M	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	264	-			56						Missense_Mutation	SNP	ENST00000319675.3	37	c.167G>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.937002	0.34189	.	.	ENSG00000176566	ENST00000319675	T	0.71698	-0.59	1.92	0.969	0.19686	WD40 repeat-like-containing domain (1);	0.043517	0.85682	D	0.000000	T	0.77425	0.4128	M	0.71581	2.175	0.09310	N	1	D	0.76494	0.999	D	0.70487	0.969	T	0.66412	-0.5930	10	0.87932	D	0	.	4.7689	0.13146	0.0:0.78:0.0:0.22	.	56	Q8NA75	DC4L2_HUMAN	M	56	ENSP00000316496:R56M	ENSP00000316496:R56M	R	-	2	0	DCAF4L2	88955149	1.000000	0.71417	0.005000	0.12908	0.028000	0.11728	1.027000	0.30115	-0.066000	0.12998	0.467000	0.42956	AGG		0.507	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		70	99	1	0	1.27e-28	1.44e-28	70	99				
RGS22	26166	broad.mit.edu	37	8	101020655	101020655	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:101020655A>G	ENST00000360863.6	-	15	2503	c.2309T>C	c.(2308-2310)cTt>cCt	p.L770P	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.L758P|RGS22_ENST00000523287.1_Missense_Mutation_p.L589P	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	770	Poly-Leu.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGGCTCAAGAAGGAGGAGAAG	0.378																																						uc003yjb.1		NA																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(2308-2310)CTT>CCT		regulator of G-protein signaling 22							156.0	146.0	149.0					8																	101020655		1862	4097	5959	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101020655A>G	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2309T>C	8.37:g.101020655A>G	ENSP00000354109:p.Leu770Pro					RGS22_uc003yja.1_Missense_Mutation_p.L589P|RGS22_uc003yjc.1_Missense_Mutation_p.L758P|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.L770P	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		15	2504	-			770			Poly-Leu.		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.2309T>C	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276985	0.80580	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.9	5.9	0.94986	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000002	T	0.64260	0.2582	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.67173	-0.5737	10	0.87932	D	0	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	758;770;589	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	P	770;758;589;758;85	ENSP00000354109:L770P;ENSP00000429382:L589P;ENSP00000428212:L758P;ENSP00000427754:L85P	ENSP00000354109:L770P	L	-	2	0	RGS22	101089831	1.000000	0.71417	0.980000	0.43619	0.969000	0.65631	7.369000	0.79578	2.251000	0.74343	0.528000	0.53228	CTT		0.378	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		6	230	0	0	0	0	6	230				
RSPO2	340419	broad.mit.edu	37	8	109001434	109001434	+	Missense_Mutation	SNP	A	A	G	rs368908416		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:109001434A>G	ENST00000276659.5	-	3	753	c.133T>C	c.(133-135)Tct>Cct	p.S45P	RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	45					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TTTGAACAAGACAAACAACCC	0.378																																						uc003yms.2		NA																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(133-135)TCT>CCT		R-spondin family, member 2 precursor		A	PRO/SER	0,4406		0,0,2203	99.0	84.0	89.0		133	4.9	1.0	8		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	RSPO2	NM_178565.4	74	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	45/244	109001434	1,13005	2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:109001434A>G	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.133T>C	8.37:g.109001434A>G	ENSP00000276659:p.Ser45Pro					RSPO2_uc003ymq.2_5'UTR|RSPO2_uc003ymr.2_Intron	p.S45P	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		3	791	-			45					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.133T>C	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404719	0.42613	0.0	1.16E-4	ENSG00000147655	ENST00000276659;ENST00000521956;ENST00000520026;ENST00000522333	T;T;T;T	0.79352	-1.09;-1.09;-1.26;-1.09	4.93	4.93	0.64822	Growth factor, receptor (1);	0.375151	0.31949	N	0.006811	T	0.81197	0.4772	M	0.83312	2.635	0.80722	D	1	P	0.47677	0.899	P	0.44990	0.466	T	0.82127	-0.0611	10	0.33940	T	0.23	0.0053	14.8819	0.70540	1.0:0.0:0.0:0.0	.	45	Q6UXX9	RSPO2_HUMAN	P	45;45;17;45	ENSP00000276659:S45P;ENSP00000430010:S45P;ENSP00000429159:S17P;ENSP00000430973:S45P	ENSP00000276659:S45P	S	-	1	0	RSPO2	109070610	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.375000	0.59549	1.984000	0.57885	0.460000	0.39030	TCT		0.378	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		19	92	0	0	0	0	19	92				
PKHD1L1	93035	broad.mit.edu	37	8	110439257	110439257	+	Missense_Mutation	SNP	G	G	A	rs542055349		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:110439257G>A	ENST00000378402.5	+	25	2976	c.2872G>A	c.(2872-2874)Gat>Aat	p.D958N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	958					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCAGCTGCAGATCTGCAGTT	0.562										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(2872-2874)GAT>AAT		fibrocystin L precursor							74.0	77.0	76.0					8																	110439257		1983	4168	6151	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110439257G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2872G>A	8.37:g.110439257G>A	ENSP00000367655:p.Asp958Asn	HNSCC(38;0.096)					p.D958N	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		25	2976	+			958			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.2872G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441865	0.63067	.	.	ENSG00000205038	ENST00000378402	D	0.86627	-2.15	5.45	5.45	0.79879	.	0.064020	0.64402	D	0.000013	D	0.85349	0.5676	M	0.71581	2.175	0.28745	N	0.901737	B	0.33413	0.411	B	0.31946	0.138	T	0.78932	-0.2009	10	0.23302	T	0.38	.	14.7717	0.69684	0.0:0.0:1.0:0.0	.	958	Q86WI1	PKHL1_HUMAN	N	958	ENSP00000367655:D958N	ENSP00000367655:D958N	D	+	1	0	PKHD1L1	110508433	0.988000	0.35896	1.000000	0.80357	0.894000	0.52154	5.249000	0.65427	2.550000	0.86006	0.585000	0.79938	GAT		0.562	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		35	194	0	0	0	0	35	194				
TG	7038	broad.mit.edu	37	8	134042151	134042151	+	Silent	SNP	C	C	T	rs554880708		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:134042151C>T	ENST00000220616.4	+	41	7162	c.7122C>T	c.(7120-7122)ggC>ggT	p.G2374G	TG_ENST00000377869.1_Silent_p.G2317G|TG_ENST00000542445.1_Silent_p.G744G|TG_ENST00000519543.1_Silent_p.G507G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2374					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGATTTGGCGGGGACCCTC	0.652																																						uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(7120-7122)GGC>GGT		thyroglobulin precursor							47.0	48.0	48.0					8																	134042151		2203	4299	6502	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134042151C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7122C>T	8.37:g.134042151C>T						TG_uc010mdw.2_Silent_p.G1133G|TG_uc011ljb.1_Silent_p.G743G|TG_uc011ljc.1_Silent_p.G507G	p.G2374G	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	41	7163	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2374					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.7122C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	c	1.405	-0.576964	0.03854	.	.	ENSG00000042832	ENST00000519178;ENST00000518108	.	.	.	5.47	-10.9	0.00192	.	.	.	.	.	T	0.42743	0.1216	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53500	-0.8430	4	.	.	.	.	6.6116	0.22755	0.1439:0.0853:0.1433:0.6274	.	.	.	.	W	830;170	.	.	R	+	1	2	TG	134111333	0.000000	0.05858	0.059000	0.19551	0.185000	0.23345	-2.934000	0.00686	-2.896000	0.00313	-0.215000	0.12644	CGG		0.652	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		17	40	0	0	0	0	17	40				
TG	7038	broad.mit.edu	37	8	134144071	134144071	+	Silent	SNP	G	G	A	rs376481950		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:134144071G>A	ENST00000220616.4	+	46	7918	c.7878G>A	c.(7876-7878)gcG>gcA	p.A2626A	TG_ENST00000377869.1_Silent_p.A2569A|TG_ENST00000542445.1_Silent_p.A996A|TG_ENST00000519543.1_Silent_p.A759A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2626					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCTGCTGGCGGATGTTCAGT	0.458																																						uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(7876-7878)GCG>GCA		thyroglobulin precursor		G		2,4404	4.2+/-10.8	0,2,2201	70.0	69.0	70.0		7878	-6.3	0.6	8		70	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous	TG	NM_003235.4		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		2626/2769	134144071	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134144071G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7878G>A	8.37:g.134144071G>A						TG_uc010mdw.2_Silent_p.A1385A|TG_uc011ljb.1_Silent_p.A995A|TG_uc011ljc.1_Silent_p.A759A	p.A2626A	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	46	7919	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2626					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.7878G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	5.099	0.203856	0.09704	4.54E-4	1.16E-4	ENSG00000042832	ENST00000519178	.	.	.	5.32	-6.32	0.01995	.	.	.	.	.	T	0.35158	0.0922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44406	-0.9330	4	.	.	.	.	1.2973	0.02072	0.3018:0.1032:0.1582:0.4368	.	.	.	.	R	1082	.	.	G	+	1	0	TG	134213253	0.000000	0.05858	0.608000	0.28969	0.491000	0.33493	-3.091000	0.00609	-0.610000	0.05716	-0.339000	0.08088	GGA		0.458	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		29	95	0	0	0	0	29	95				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	p.R80*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	450	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		7	9	0	0	0	0	7	9				
FGD3	89846	broad.mit.edu	37	9	95765216	95765216	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:95765216C>G	ENST00000375482.3	+	4	959	c.463C>G	c.(463-465)Ccc>Gcc	p.P155A	FGD3_ENST00000337352.6_Missense_Mutation_p.P155A|FGD3_ENST00000416701.2_Missense_Mutation_p.P155A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	155					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCACTCTGGCCCCCAGAAGCT	0.617																																						uc004asw.2		NA																	0				ovary(1)|breast(1)	2						c.(463-465)CCC>GCC		FYVE, RhoGEF and PH domain containing 3							107.0	118.0	115.0					9																	95765216		1998	4177	6175	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95765216C>G	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.463C>G	9.37:g.95765216C>G	ENSP00000364631:p.Pro155Ala					FGD3_uc004asx.2_Missense_Mutation_p.P155A|FGD3_uc004asz.2_Missense_Mutation_p.P155A|FGD3_uc004ata.2_5'UTR	p.P155A	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN			4	1091	+			155					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.463C>G	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769717	0.31320	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352	T;T;T	0.27402	1.67;1.67;1.67	3.84	2.0	0.26442	Dbl homology (DH) domain (2);	0.233436	0.22408	N	0.060448	T	0.24470	0.0593	L	0.45581	1.43	0.19775	N	0.99996	B;B	0.22003	0.063;0.007	B;B	0.21360	0.034;0.009	T	0.17561	-1.0365	10	0.45353	T	0.12	.	8.1671	0.31233	0.0:0.7965:0.0:0.2035	.	155;155	F8W7P2;Q5JSP0	.;FGD3_HUMAN	A	155	ENSP00000364631:P155A;ENSP00000413833:P155A;ENSP00000336914:P155A	ENSP00000336914:P155A	P	+	1	0	FGD3	94805037	0.768000	0.28519	0.013000	0.15412	0.538000	0.34931	2.294000	0.43567	0.589000	0.29677	0.655000	0.94253	CCC		0.617	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		44	306	0	0	0	0	44	306				
SNX30	401548	broad.mit.edu	37	9	115598545	115598545	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:115598545G>T	ENST00000374232.3	+	5	834	c.670G>T	c.(670-672)Gag>Tag	p.E224*		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	224					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CAGAATGGGCGAGTCAGTCAA	0.507																																						uc004bgj.3		NA																	0					0						c.(670-672)GAG>TAG		sorting nexin family member 30							139.0	133.0	135.0					9																	115598545		2004	4177	6181	SO:0001587	stop_gained	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115598545G>T	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"""Sorting nexins"""	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.670G>T	9.37:g.115598545G>T	ENSP00000363349:p.Glu224*					SNX30_uc004bgi.3_5'Flank	p.E224*	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN			5	818	+			224						Nonsense_Mutation	SNP	ENST00000374232.3	37	c.670G>T	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	G	39	7.620550	0.98393	.	.	ENSG00000148158	ENST00000374232	.	.	.	5.8	5.8	0.92144	.	0.051355	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	20.0487	0.97617	0.0:0.0:1.0:0.0	.	.	.	.	X	224	.	ENSP00000363349:E224X	E	+	1	0	SNX30	114638366	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	9.843000	0.99491	2.742000	0.94016	0.655000	0.94253	GAG		0.507	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1			56	194	1	0	5.82e-37	6.62e-37	56	194				
BSPRY	54836	broad.mit.edu	37	9	116116596	116116596	+	Missense_Mutation	SNP	C	C	A	rs368306479		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:116116596C>A	ENST00000374183.4	+	2	317	c.278C>A	c.(277-279)cCg>cAg	p.P93Q	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	93					calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GACGTCCTGCCGGGGAAGAAT	0.522																																						uc004bhg.3		NA																	0				breast(1)	1						c.(277-279)CCG>CAG		B-box and SPRY domain containing							113.0	119.0	117.0					9																	116116596		2067	4220	6287	SO:0001583	missense	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116116596C>A	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.278C>A	9.37:g.116116596C>A	ENSP00000363298:p.Pro93Gln					BSPRY_uc010muw.2_Missense_Mutation_p.P93Q	p.P93Q	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN			2	326	+			93					B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	ENST00000374183.4	37	c.278C>A	CCDS43868.1	.	.	.	.	.	.	.	.	.	.	C	3.557	-0.090461	0.07053	.	.	ENSG00000119411	ENST00000374183	T	0.58940	0.3	5.02	3.1	0.35709	.	0.349077	0.29964	N	0.010758	T	0.29028	0.0721	N	0.11560	0.145	0.22745	N	0.99878	B;B	0.13594	0.008;0.004	B;B	0.13407	0.009;0.002	T	0.28038	-1.0056	10	0.02654	T	1	-8.8256	6.9358	0.24466	0.1787:0.7315:0.0:0.0898	.	93;93	Q5W0U4-2;Q5W0U4	.;BSPRY_HUMAN	Q	93	ENSP00000363298:P93Q	ENSP00000363298:P93Q	P	+	2	0	BSPRY	115156417	0.939000	0.31865	0.254000	0.24359	0.519000	0.34347	2.142000	0.42177	0.471000	0.27319	0.591000	0.81541	CCG		0.522	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688		14	57	1	0	0.000151284	0.000160384	14	57				
LHX3	8022	broad.mit.edu	37	9	139090820	139090820	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:139090820G>A	ENST00000371748.5	-	4	636	c.540C>T	c.(538-540)ccC>ccT	p.P180P	LHX3_ENST00000371746.3_Silent_p.P185P	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	180					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GCGCCGGCTTGGGCGAGGTGT	0.731																																						uc004cha.2		NA																	0				skin(1)	1						c.(538-540)CCC>CCT		LIM homeobox protein 3 isoform a							16.0	19.0	18.0					9																	139090820		2192	4289	6481	SO:0001819	synonymous_variant	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139090820G>A	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.540C>T	9.37:g.139090820G>A						LHX3_uc004cgz.2_Silent_p.P185P	p.P180P	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	4	637	-		Myeloproliferative disorder(178;0.0511)	180			Homeobox.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Silent	SNP	ENST00000371748.5	37	c.540C>T	CCDS6994.1																																																																																				0.731	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			8	23	0	0	0	0	8	23				
TBL1X	6907	broad.mit.edu	37	X	9673050	9673050	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:9673050G>A	ENST00000217964.7	+	13	1772	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N	TBL1X_ENST00000536365.1_Missense_Mutation_p.D327N|TBL1X_ENST00000407597.2_Missense_Mutation_p.D378N|TBL1X_ENST00000424279.1_Missense_Mutation_p.D327N|TBL1X_ENST00000380961.1_Missense_Mutation_p.D327N	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	378					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CCTTGATGTGGACTGGCAGAA	0.527																																						uc010ndq.2		NA																	0				ovary(1)	1						c.(1132-1134)GAC>AAC		transducin beta-like 1X isoform a							221.0	131.0	162.0					X																	9673050		2203	4300	6503	SO:0001583	missense	6907				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:9673050G>A	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1132G>A	X.37:g.9673050G>A	ENSP00000217964:p.Asp378Asn					TBL1X_uc004csq.3_Missense_Mutation_p.D327N|TBL1X_uc010ndr.2_Missense_Mutation_p.D327N|TBL1X_uc004csr.2_Missense_Mutation_p.D378N|TBL1X_uc004css.2_Missense_Mutation_p.D329N	p.D378N	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN			13	1500	+		Hepatocellular(5;0.000888)	378			WD 4.		A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	37	c.1132G>A	CCDS14133.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717926	0.68844	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51	3.75	3.75	0.43078	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89798	0.6819	M	0.86805	2.84	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.973	D	0.90198	0.4255	10	0.36615	T	0.2	.	15.488	0.75582	0.0:0.0:1.0:0.0	.	341;378	Q59F53;O60907	.;TBL1X_HUMAN	N	378;327;327;327;378	ENSP00000385988:D378N;ENSP00000394097:D327N;ENSP00000445317:D327N;ENSP00000370348:D327N;ENSP00000217964:D378N	ENSP00000217964:D378N	D	+	1	0	TBL1X	9633050	1.000000	0.71417	0.870000	0.34147	0.364000	0.29643	9.191000	0.94940	1.630000	0.50440	0.600000	0.82982	GAC		0.527	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		47	152	0	0	0	0	47	152				
MAGEB16	139604	broad.mit.edu	37	X	35821252	35821252	+	Silent	SNP	G	G	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:35821252G>C	ENST00000399989.1	+	2	1218	c.939G>C	c.(937-939)ctG>ctC	p.L313L	MAGEB16_ENST00000399992.1_Silent_p.L345L|MAGEB16_ENST00000399988.1_Silent_p.L313L|MAGEB16_ENST00000399985.1_Silent_p.L313L|MAGEB16_ENST00000399987.1_Silent_p.L313L	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	313										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CGGAAGCTCTGAAAGAGGAAG	0.493																																						uc010ngt.1		NA																	0				lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(937-939)CTG>CTC		melanoma antigen family B, 16							18.0	18.0	18.0					X																	35821252		2152	4275	6427	SO:0001819	synonymous_variant	139604							g.chrX:35821252G>C		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.939G>C	X.37:g.35821252G>C							p.L313L	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			2	1218	+			313					A8MU30	Silent	SNP	ENST00000399989.1	37	c.939G>C	CCDS43927.1																																																																																				0.493	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			7	27	0	0	0	0	7	27				
ZNF41	7592	broad.mit.edu	37	X	47308010	47308010	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:47308010C>G	ENST00000377065.4	-	5	1798	c.1159G>C	c.(1159-1161)Gaa>Caa	p.E387Q	ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.E397Q|ZNF41_ENST00000313116.7_Missense_Mutation_p.E387Q	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	429					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)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TTTCCACATTCACTGCATTCA	0.408																																						uc004dhs.3		NA																	0				ovary(3)	3						c.(1285-1287)GAA>CAA		zinc finger protein 41							68.0	63.0	65.0					X																	47308010		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47308010C>G	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1159G>C	X.37:g.47308010C>G	ENSP00000366265:p.Glu387Gln					ZNF41_uc004dhu.3_Missense_Mutation_p.E421Q|ZNF41_uc004dht.3_Missense_Mutation_p.E301Q|ZNF41_uc004dhv.3_Missense_Mutation_p.E397Q|ZNF41_uc004dhw.3_Missense_Mutation_p.E389Q|ZNF41_uc004dhy.3_Missense_Mutation_p.E387Q|ZNF41_uc004dhx.3_Missense_Mutation_p.E387Q|ZNF41_uc011mlm.1_Missense_Mutation_p.E301Q	p.E429Q	NM_153380	NP_700359	P51814	ZNF41_HUMAN			4	1352	-		all_lung(315;0.000129)	429			C2H2-type 5.		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1285G>C	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	C	0.260	-1.000418	0.02128	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.07444	3.19;3.19;3.19	3.57	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36268	N	0.002700	T	0.06005	0.0156	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B	0.28584	0.117;0.117;0.216;0.117;0.142	B;B;B;B;B	0.30105	0.031;0.031;0.056;0.068;0.111	T	0.35919	-0.9769	10	0.36615	T	0.2	.	12.3357	0.55065	0.0:1.0:0.0:0.0	.	387;389;397;421;429	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	Q	387;387;397	ENSP00000315173:E387Q;ENSP00000366265:E387Q;ENSP00000380243:E397Q	ENSP00000315173:E387Q	E	-	1	0	ZNF41	47192954	0.000000	0.05858	0.923000	0.36655	0.997000	0.91878	-0.059000	0.11731	2.059000	0.61396	0.594000	0.82650	GAA		0.408	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		35	147	0	0	0	0	35	147				
FGD1	2245	broad.mit.edu	37	X	54492271	54492271	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:54492271C>T	ENST00000375135.3	-	7	2088	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	452	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTCTCCAATGCGTGGATAGCG	0.557																																						uc004dtg.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1354-1356)CGC>CAC		faciogenital dysplasia protein							88.0	59.0	69.0					X																	54492271		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54492271C>T	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1355G>A	X.37:g.54492271C>T	ENSP00000364277:p.Arg452His					FGD1_uc011moi.1_Missense_Mutation_p.R210H	p.R452H	NM_004463	NP_004454	P98174	FGD1_HUMAN			7	2089	-			452			DH.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.1355G>A	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061829	0.93846	.	.	ENSG00000102302	ENST00000375135	T	0.63913	-0.07	5.68	5.68	0.88126	Dbl homology (DH) domain (5);	0.000000	0.52532	D	0.000066	D	0.83862	0.5346	M	0.91510	3.215	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.87543	0.2460	10	0.87932	D	0	-17.4595	17.4186	0.87508	0.0:1.0:0.0:0.0	.	210;452	B4DS99;P98174	.;FGD1_HUMAN	H	452	ENSP00000364277:R452H	ENSP00000364277:R452H	R	-	2	0	FGD1	54508996	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.987000	0.70571	2.382000	0.81193	0.594000	0.82650	CGC		0.557	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		16	82	0	0	0	0	16	82				
ACRC	93953	broad.mit.edu	37	X	70830641	70830641	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:70830641G>A	ENST00000373695.1	+	10	2259	c.1722G>A	c.(1720-1722)caG>caA	p.Q574Q	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Silent_p.Q574Q			Q96QF7	ACRC_HUMAN	acidic repeat containing	574	SprT-like.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCAAGATCCAGATTGGCTTGA	0.507																																						uc004eae.2		NA																	0				ovary(3)	3						c.(1720-1722)CAG>CAA		ACRC protein							100.0	70.0	80.0					X																	70830641		2203	4300	6503	SO:0001819	synonymous_variant	93953					nucleus		g.chrX:70830641G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1722G>A	X.37:g.70830641G>A						BCYRN1_uc011mpt.1_Intron	p.Q574Q	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			11	2223	+	Renal(35;0.156)		574					B9EG62	Silent	SNP	ENST00000373695.1	37	c.1722G>A	CCDS35326.1																																																																																				0.507	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			8	33	0	0	0	0	8	33				
KIAA2022	340533	broad.mit.edu	37	X	73963606	73963607	+	Missense_Mutation	DNP	CT	CT	GG			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:73963606_73963607CT>GG	ENST00000055682.6	-	3	1396_1397	c.785_786AG>CC	c.(784-786)gAG>gCC	p.E262A		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	262					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.E262D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAATAAAAGTCTCGAAGTAACC	0.391																																						uc004eby.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(784-786)GAG>GCC		hypothetical protein LOC340533																																				SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963606_73963607CT>GG		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.785_786delinsGG	X.37:g.73963606_73963607delinsGG	ENSP00000055682:p.Glu262Ala						p.E262A	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	1402_1403	-			262					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	DNP	ENST00000055682.6	37	c.785_786AG>CC	CCDS35337.1																																																																																				0.391	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		10	304	0	0	0	0	10	304				
ATP7A	538	broad.mit.edu	37	X	77254135	77254135	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:77254135C>T	ENST00000341514.6	+	5	1652	c.1497C>T	c.(1495-1497)tgC>tgT	p.C499C	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.C499C	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	499	HMA 5. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GCATGACTTGCGCTTCCTGTG	0.408													C|||	1	0.000264901	0.0	0.0	3775	,	,		15560	0.001		0.0	False		,,,				2504	0.0					uc004ecx.3		NA																	0					0						c.(1495-1497)TGC>TGT		ATPase, Cu++ transporting, alpha polypeptide							170.0	152.0	158.0					X																	77254135		2203	4296	6499	SO:0001819	synonymous_variant	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77254135C>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1497C>T	X.37:g.77254135C>T						ATP7A_uc004ecw.2_Silent_p.C499C	p.C499C	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			5	1657	+			499			HMA 5.|Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Silent	SNP	ENST00000341514.6	37	c.1497C>T	CCDS35339.1																																																																																				0.408	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		71	250	0	0	0	0	71	250				
SH2D1A	4068	broad.mit.edu	37	X	123480565	123480565	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:123480565C>A	ENST00000371139.4	+	1	372	c.73C>A	c.(73-75)Ctg>Atg	p.L25M	SH2D1A_ENST00000477673.2_Missense_Mutation_p.L25M|SH2D1A_ENST00000491950.1_3'UTR|SH2D1A_ENST00000360027.4_Missense_Mutation_p.L25M|STAG2_ENST00000469481.1_Intron	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	25	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGCCACTGGGCTGGATGGCAG	0.597																																						uc004euf.3		NA																	0					0						c.(73-75)CTG>ATG		SH2 domain protein 1A isoform 1							140.0	107.0	118.0					X																	123480565		2203	4300	6503	SO:0001583	missense	4068	X-linked_Lymphoproliferative_syndrome			cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	g.chrX:123480565C>A	AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.73C>A	X.37:g.123480565C>A	ENSP00000360181:p.Leu25Met					SH2D1A_uc004euh.3_Missense_Mutation_p.L25M|SH2D1A_uc004eug.3_RNA|SH2D1A_uc010nqw.2_RNA|SH2D1A_uc004eui.3_RNA|SH2D1A_uc010nqx.2_Intron	p.L25M	NM_002351	NP_002342	O60880	SH21A_HUMAN			1	418	+			25			SH2.		A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Missense_Mutation	SNP	ENST00000371139.4	37	c.73C>A	CCDS14608.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.891889	0.52014	.	.	ENSG00000183918	ENST00000371139;ENST00000360027;ENST00000394475	D;D	0.88277	-2.36;-2.36	5.51	4.65	0.58169	SH2 motif (4);	0.346678	0.28062	N	0.016758	T	0.81973	0.4936	N	0.16656	0.425	0.27825	N	0.941674	P;P	0.43024	0.649;0.798	B;P	0.46419	0.291;0.516	T	0.75096	-0.3438	10	0.48119	T	0.1	-7.1031	6.3068	0.21143	0.182:0.7222:0.0:0.0957	.	25;25	O60880-4;O60880	.;SH21A_HUMAN	M	25	ENSP00000360181:L25M;ENSP00000353126:L25M	ENSP00000353126:L25M	L	+	1	2	SH2D1A	123308246	0.850000	0.29656	0.956000	0.39512	0.990000	0.78478	1.479000	0.35453	1.087000	0.41251	0.513000	0.50165	CTG		0.597	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351		19	97	1	0	2.46e-09	2.71e-09	19	97				
CT55	54967	broad.mit.edu	37	X	134305035	134305035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:134305035G>A	ENST00000276241.6	-	1	287	c.61C>T	c.(61-63)Cga>Tga	p.R21*	CXorf48_ENST00000344129.2_Nonsense_Mutation_p.R21*	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		21										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GGGCCCTGTCGCTCTGCAGGG	0.642																																						uc004eyk.1		NA																	0					0						c.(61-63)CGA>TGA		hypothetical protein LOC54967 isoform 1							106.0	89.0	95.0					X																	134305035		2203	4300	6503	SO:0001587	stop_gained	54967							g.chrX:134305035G>A																												ENST00000276241.6:c.61C>T	X.37:g.134305035G>A	ENSP00000276241:p.Arg21*					CXorf48_uc004eyl.1_Nonsense_Mutation_p.R21*	p.R21*	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN			1	717	-	Acute lymphoblastic leukemia(192;0.000127)		21					Q9NWY8	Nonsense_Mutation	SNP	ENST00000276241.6	37	c.61C>T	CCDS35400.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829998	0.71258	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	.	.	.	1.59	-1.66	0.08265	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	3.1389	4.1479	0.10224	0.0:0.3077:0.5014:0.1908	.	.	.	.	X	21	.	ENSP00000276241:R21X	R	-	1	2	CXorf48	134132701	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.922000	0.01568	-0.695000	0.05105	-1.044000	0.02363	CGA		0.642	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			45	117	0	0	0	0	45	117				
ARHGEF6	9459	broad.mit.edu	37	X	135757211	135757211	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:135757211C>T	ENST00000250617.6	-	19	3195	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E510K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E510K|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E537K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	664					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CAGTAGGCTTCGATCACTTTA	0.413																																						uc004fab.2		NA																	0					0						c.(1990-1992)GAA>AAA		Rac/Cdc42 guanine nucleotide exchange factor 6							162.0	137.0	145.0					X																	135757211		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135757211C>T	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1990G>A	X.37:g.135757211C>T	ENSP00000250617:p.Glu664Lys					ARHGEF6_uc011mwd.1_Missense_Mutation_p.E537K|ARHGEF6_uc011mwe.1_Missense_Mutation_p.E510K	p.E664K	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			19	2452	-	Acute lymphoblastic leukemia(192;0.000127)		664					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.1990G>A	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047953	0.75846	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.70164	-0.37;-0.25;-0.25;-0.46	5.59	5.59	0.84812	.	0.045466	0.85682	D	0.000000	D	0.83945	0.5364	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.86296	0.1677	10	0.87932	D	0	.	18.6464	0.91411	0.0:1.0:0.0:0.0	.	537;664	B7Z3C7;Q15052	.;ARHG6_HUMAN	K	664;510;510;510;537	ENSP00000250617:E664K;ENSP00000359654:E510K;ENSP00000359656:E510K;ENSP00000439483:E537K	ENSP00000250617:E664K	E	-	1	0	ARHGEF6	135584877	1.000000	0.71417	0.925000	0.36789	0.224000	0.24922	7.153000	0.77428	2.347000	0.79759	0.600000	0.82982	GAA		0.413	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		16	76	0	0	0	0	16	76				
MAMLD1	10046	broad.mit.edu	37	X	149639448	149639448	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:149639448G>A	ENST00000370401.2	+	4	1913	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	MAMLD1_ENST00000262858.5_Missense_Mutation_p.E535K|MAMLD1_ENST00000432680.2_Missense_Mutation_p.E510K|MAMLD1_ENST00000455522.2_Missense_Mutation_p.E16K|MAMLD1_ENST00000426613.2_Missense_Mutation_p.E510K			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	535					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGCCACGGAGCCATTTAC	0.537																																						uc004fee.1		NA																	0					0						c.(1603-1605)GAG>AAG		mastermind-like domain containing 1							120.0	102.0	108.0					X																	149639448		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639448G>A	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1603G>A	X.37:g.149639448G>A	ENSP00000359428:p.Glu535Lys					MAMLD1_uc011mxt.1_Missense_Mutation_p.E497K|MAMLD1_uc011mxu.1_Missense_Mutation_p.E510K|MAMLD1_uc011mxv.1_Missense_Mutation_p.E510K|MAMLD1_uc011mxw.1_Missense_Mutation_p.E462K	p.E535K	NM_005491	NP_005482	Q13495	MAMD1_HUMAN			3	1679	+	Acute lymphoblastic leukemia(192;6.56e-05)		535					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1603G>A	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878346	0.51801	.	.	ENSG00000013619	ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.45	5.45	0.79879	.	0.079635	0.53938	D	0.000057	D	0.84866	0.5567	M	0.71581	2.175	0.41431	D	0.987868	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.78314	0.991;0.974;0.991	T	0.82182	-0.0584	10	0.21540	T	0.41	-30.4716	18.4488	0.90696	0.0:0.0:1.0:0.0	.	510;510;535	Q13495-4;Q13495-3;Q13495	.;.;MAMD1_HUMAN	K	535;510;535;510;16	ENSP00000359428:E535K;ENSP00000414517:E510K;ENSP00000262858:E535K;ENSP00000397438:E510K;ENSP00000389106:E16K	ENSP00000262858:E535K	E	+	1	0	MAMLD1	149390106	1.000000	0.71417	0.666000	0.29783	0.052000	0.14988	7.483000	0.81158	2.298000	0.77334	0.529000	0.55759	GAG		0.537	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		57	164	0	0	0	0	57	164				
PASD1	139135	broad.mit.edu	37	X	150844493	150844493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:150844493G>T	ENST00000370357.4	+	16	2445	c.2200G>T	c.(2200-2202)Gag>Tag	p.E734*		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	734						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.E734*(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGTAGGAGTCGAGGGACCTCC	0.532																																						uc004fev.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)	3						c.(2200-2202)GAG>TAG		PAS domain containing 1							133.0	121.0	125.0					X																	150844493		2203	4300	6503	SO:0001587	stop_gained	139135					nucleus	signal transducer activity	g.chrX:150844493G>T	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2200G>T	X.37:g.150844493G>T	ENSP00000359382:p.Glu734*						p.E734*	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			16	2532	+	Acute lymphoblastic leukemia(192;6.56e-05)		734					Q3MNE0|Q69HD7|Q8N7X9	Nonsense_Mutation	SNP	ENST00000370357.4	37	c.2200G>T	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590428	0.86851	.	.	ENSG00000166049	ENST00000370357	.	.	.	2.98	0.0112	0.14086	.	.	.	.	.	.	.	.	.	.	.	0.43164	D	0.994955	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	1.1134	0.01709	0.2192:0.3977:0.2345:0.1485	.	.	.	.	X	734	.	ENSP00000359382:E734X	E	+	1	0	PASD1	150595149	0.012000	0.17670	0.002000	0.10522	0.006000	0.05464	-0.063000	0.11655	-0.108000	0.12066	-0.545000	0.04230	GAG		0.532	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		56	261	1	0	2.79e-39	3.19e-39	56	261				
F8	2157	broad.mit.edu	37	X	154194878	154194878	+	Missense_Mutation	SNP	T	T	C	rs375241473		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:154194878T>C	ENST00000360256.4	-	8	1294	c.1094A>G	c.(1093-1095)tAt>tGt	p.Y365C	F8_ENST00000483822.1_5'Flank	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	365			Y -> C (in HEMA; mild). {ECO:0000269|PubMed:11857744, ECO:0000269|PubMed:15810915}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.Y365C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATCATCATCATAGTCTTCCGC	0.423																																						uc004fmt.2		NA																	2	Substitution - Missense(2)		pancreas(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	GRCh37	CM020415	F8	M		c.(1093-1095)TAT>TGT		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	T	CYS/TYR	0,3835		0,0,1632,571	193.0	150.0	165.0		1094	3.7	0.1	X		165	1,6727		0,1,2427,1872	no	missense	F8	NM_000132.3	194	0,1,4059,2443	CC,CT,TT,T		0.0149,0.0,0.0095	probably-damaging	365/2352	154194878	1,10562	2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154194878T>C	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1094A>G	X.37:g.154194878T>C	ENSP00000353393:p.Tyr365Cys						p.Y365C	NM_000132	NP_000123	P00451	FA8_HUMAN			8	1265	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		365		Y -> C (in HEMA; mild).			Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.1094A>G	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997359	0.35226	0.0	1.49E-4	ENSG00000185010	ENST00000360256	D	0.99220	-5.58	4.89	3.71	0.42584	.	0.566224	0.17811	N	0.161208	D	0.98921	0.9634	M	0.78916	2.43	0.26360	N	0.977068	D	0.69078	0.997	P	0.55667	0.781	D	0.96504	0.9373	10	0.62326	D	0.03	-0.6979	8.8848	0.35396	0.0:0.0922:0.0:0.9078	.	365	P00451	FA8_HUMAN	C	365	ENSP00000353393:Y365C	ENSP00000353393:Y365C	Y	-	2	0	F8	153848072	0.508000	0.26154	0.069000	0.20011	0.346000	0.29079	4.059000	0.57470	0.632000	0.30432	0.430000	0.28490	TAT		0.423	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			40	165	0	0	0	0	40	165				
KRT5	3852	broad.mit.edu	37	12	52913851	52913852	+	Frame_Shift_Ins	INS	-	-	ATCAA			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:52913851_52913852insATCAA	ENST00000252242.4	-	1	619_620	c.229_230insTTGAT	c.(229-231)agcfs	p.S77fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	77	Gly-rich.|Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCACTAGTGCTGATGGATATC	0.614																																						uc001san.2		NA																	0					0						c.(229-231)AGCfs		keratin 5																																				SO:0001589	frameshift_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913851_52913852insATCAA		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.229_230insTTGAT	12.37:g.52913851_52913852insATCAA	ENSP00000252242:p.Ser77fs					KRT5_uc009zmh.2_Frame_Shift_Ins_p.S77fs	p.S77fs	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	392_393	-			77			Head.|Gly-rich.		Q6PI71|Q6UBJ0|Q8TA91	Frame_Shift_Ins	INS	ENST00000252242.4	37	c.229_230insTTGAT	CCDS8830.1																																																																																				0.614	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			28	169	NA	NA	NA	NA	28	169	---	---	---	---
KRT5	3852	broad.mit.edu	37	12	52913991	52913992	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:52913991_52913992insGT	ENST00000252242.4	-	1	479_480	c.89_90insAC	c.(88-90)accfs	p.T30fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	30	Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTGAAGCTGGTGCGGGAGAC	0.663																																						uc001san.2		NA																	0					0						c.(88-90)ACCfs		keratin 5																																				SO:0001589	frameshift_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913991_52913992insGT		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.88_89dupAC	12.37:g.52913992_52913993dupGT	ENSP00000252242:p.Thr30fs					KRT5_uc009zmh.2_Frame_Shift_Ins_p.T30fs	p.T30fs	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	252_253	-			30			Head.		Q6PI71|Q6UBJ0|Q8TA91	Frame_Shift_Ins	INS	ENST00000252242.4	37	c.89_90insAC	CCDS8830.1																																																																																				0.663	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			15	68	NA	NA	NA	NA	15	68	---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25222159	25222159	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:25222159delG	ENST00000400100.1	+	10	1293	c.403delG	c.(403-405)gggfs	p.G136fs	SNRPN_ENST00000577565.1_Frame_Shift_Del_p.G136fs|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.G136fs|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Frame_Shift_Del_p.G136fs|SNRPN_ENST00000554227.2_Frame_Shift_Del_p.G140fs|SNHG14_ENST00000551631.2_RNA|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400098.1_Frame_Shift_Del_p.G136fs|SNRPN_ENST00000444203.2_Frame_Shift_Del_p.G140fs|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.G136fs	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	136					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CCGAGGAGTTGGGGGACCATC	0.557									Prader-Willi syndrome																													uc001ywp.1		NA																	0				ovary(1)	1						c.(403-405)GGGfs		small nuclear ribonucleoprotein polypeptide N							37.0	40.0	39.0					15																	25222159		1847	4097	5944	SO:0001589	frameshift_variant	6638	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25222159delG	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.403delG	15.37:g.25222159delG	ENSP00000382972:p.Gly136fs					SNRPN_uc001ywq.1_Frame_Shift_Del_p.G135fs|SNRPN_uc001ywr.1_Frame_Shift_Del_p.G135fs|SNRPN_uc001yws.1_Frame_Shift_Del_p.G135fs|SNRPN_uc001ywt.1_Frame_Shift_Del_p.G135fs|SNRPN_uc001ywv.1_Frame_Shift_Del_p.G138fs|SNRPN_uc001yww.1_Frame_Shift_Del_p.G135fs|SNRPN_uc001ywx.1_Frame_Shift_Del_p.G135fs|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	p.G135fs	NM_022807	NP_073718	P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	10	1293	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	135					B3KVR1|P14648|P17135|Q0D2Q5	Frame_Shift_Del	DEL	ENST00000400100.1	37	c.403delG	CCDS10017.1																																																																																				0.557	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		21	89	NA	NA	NA	NA	21	89	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179612040	179612040	+	Intron	DEL	G	G	-			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:179612040delG	ENST00000591111.1	-	46	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Frame_Shift_Del_p.S5029fs			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAAAGGTGTGGAATATCTTT	0.408																																						uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15085-15087)TCCfs		titin isoform novex-3							59.0	60.0	59.0					2																	179612040		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612040delG	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5392C>-	2.37:g.179612040delG						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.S5029fs	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15311	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.15087delC																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		45	123	NA	NA	NA	NA	45	123	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62860609	62860610	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:62860609_62860610delGC	ENST00000383710.4	-	1	444_445	c.95_96delGC	c.(94-96)cgcfs	p.R32fs	CADPS_ENST00000283269.9_Frame_Shift_Del_p.R32fs|CADPS_ENST00000490353.2_Frame_Shift_Del_p.R32fs|CADPS_ENST00000357948.3_Frame_Shift_Del_p.R32fs	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	32					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGGGAGACAGGCGCGCGCCGGA	0.757																																						uc003dll.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(94-96)CGCfs		Ca2+-dependent secretion activator isoform 1																																				SO:0001589	frameshift_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62860609_62860610delGC	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.95_96delGC	3.37:g.62860615_62860616delGC	ENSP00000373215:p.Arg32fs					CADPS_uc003dlm.2_Frame_Shift_Del_p.R32fs|CADPS_uc003dln.2_Frame_Shift_Del_p.R32fs	p.R32fs	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	1	455_456	-		Lung SC(41;0.0452)	32					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Frame_Shift_Del	DEL	ENST00000383710.4	37	c.95_96delGC	CCDS46858.1																																																																																				0.757	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		7	10	NA	NA	NA	NA	7	10	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89947506	89947507	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:89947506_89947507insA	ENST00000405460.2	+	18	3471_3472	c.3375_3376insA	c.(3376-3378)atafs	p.I1126fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1126	Calx-beta 9. {ECO:0000305|PubMed:11606593}.				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)		CTCTGGAGCCCATAGACAAAGC	0.342																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(3373-3378)CCCATAfs		G protein-coupled receptor 98 precursor																																				SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89947506_89947507insA	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.3376dupA	5.37:g.89947507_89947507dupA	ENSP00000384582:p.Ile1126fs					GPR98_uc003kjt.2_5'UTR	p.P1125fs	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)	18	3471_3472	+		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)	1125_1126			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Ins	INS	ENST00000405460.2	37	c.3375_3376insA	CCDS47246.1																																																																																				0.342	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		10	42	NA	NA	NA	NA	10	42	---	---	---	---
SLC25A2	83884	broad.mit.edu	37	5	140682600	140682610	+	Frame_Shift_Del	DEL	GGGATTGCTCG	GGGATTGCTCG	-			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140682600_140682610delGGGATTGCTCG	ENST00000239451.4	-	1	1002_1012	c.823_833delCGAGCAATCCC	c.(823-834)cgagcaatccctfs	p.RAIP275fs		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	275					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCCATTGGCAGGGATTGCTCGAATCATAGTA	0.441																																						uc003ljf.2		NA																	0				ovary(1)	1						c.(823-834)CGAGCAATCCCTfs		solute carrier family 25 member 2	L-Ornithine(DB00129)																																			SO:0001589	frameshift_variant	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140682600_140682610delGGGATTGCTCG	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.823_833delCGAGCAATCCC	5.37:g.140682600_140682610delGGGATTGCTCG	ENSP00000239451:p.Arg275fs						p.R275fs	NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	1003_1013	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	275_278			Solcar 3.		Q496C1|Q6XUI0|Q8NFZ2	Frame_Shift_Del	DEL	ENST00000239451.4	37	c.823_833delCGAGCAATCCC	CCDS4258.1																																																																																				0.441	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		12	47	NA	NA	NA	NA	12	47	---	---	---	---
CTGF	1490	broad.mit.edu	37	6	132270566	132270567	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:132270566_132270567insT	ENST00000367976.3	-	5	1087_1088	c.887_888insA	c.(886-888)cacfs	p.H296fs	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	296	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.|Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		TGGTGGTTCTGTGGGGGGTGCA	0.53																																					Esophageal Squamous(127;510 1660 12817 24400 38449)	uc003qcz.2		NA																	0					0						c.(886-888)CACfs		connective tissue growth factor precursor																																				SO:0001589	frameshift_variant	1490				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	g.chr6:132270566_132270567insT	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.888dupA	6.37:g.132270567_132270567dupT	ENSP00000356954:p.His296fs						p.H296fs	NM_001901	NP_001892	P29279	CTGF_HUMAN		GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)	5	1093_1094	-	Breast(56;0.0602)		296			CTCK.|Heparin-binding.		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Frame_Shift_Ins	INS	ENST00000367976.3	37	c.887_888insA	CCDS5151.1																																																																																				0.530	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		64	287	NA	NA	NA	NA	64	287	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	105160892	105160892	+	Frame_Shift_Del	DEL	A	A	-	rs184989204		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:105160892delA	ENST00000436393.2	+	23	3445	c.3204delA	c.(3202-3204)acafs	p.T1068fs	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAACATGACAAAAAGCACCA	0.468										HNSCC(12;0.0054)																												uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(3202-3204)ACAfs		regulating synaptic membrane exocytosis 2							69.0	64.0	65.0					8																	105160892		876	1991	2867	SO:0001589	frameshift_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105160892delA	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3204delA	8.37:g.105160892delA	ENSP00000390665:p.Thr1068fs	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Frame_Shift_Del_p.T1057fs|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	p.T1068fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		23	3445	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Frame_Shift_Del	DEL	ENST00000436393.2	37	c.3204delA																																																																																					0.468	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		16	70	NA	NA	NA	NA	16	70	---	---	---	---
