#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
DNAJC11	55735	broad.mit.edu	37	1	6738499	6738499	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:6738499G>A	ENST00000377577.5	-	3	354	c.231C>T	c.(229-231)atC>atT	p.I77I	DNAJC11_ENST00000349363.6_Silent_p.I39I|DNAJC11_ENST00000377573.5_Intron|DNAJC11_ENST00000294401.7_Silent_p.I77I|DNAJC11_ENST00000542246.1_Silent_p.I39I	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	77	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		ATATATCATAGATGGCCCTGG	0.388																																						uc001aof.2		NA																	0				ovary(1)|skin(1)	2						c.(229-231)ATC>ATT		DnaJ (Hsp40) homolog, subfamily C, member 11							94.0	89.0	90.0					1																	6738499		2203	4300	6503	SO:0001819	synonymous_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6738499G>A	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.231C>T	1.37:g.6738499G>A						DNAJC11_uc010nzt.1_Silent_p.I39I|DNAJC11_uc001aog.2_Silent_p.I77I|DNAJC11_uc010nzu.1_Intron	p.I77I	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	3	337	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	77			J.		Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	37	c.231C>T	CCDS87.1																																																																																				0.388	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		11	48	0	0	0	0	11	48				
SLC2A7	155184	broad.mit.edu	37	1	9067373	9067373	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:9067373C>T	ENST00000400906.1	-	10	1187	c.1188G>A	c.(1186-1188)ggG>ggA	p.G396G		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	396					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ACTCACTGGGCCCAATGGAAT	0.602																																						uc009vmo.1		NA																	0					0						c.(1186-1188)GGG>GGA		intestinal facilitative glucose transporter 7							147.0	114.0	125.0					1																	9067373		2203	4300	6503	SO:0001819	synonymous_variant	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9067373C>T	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.1188G>A	1.37:g.9067373C>T							p.G396G	NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	10	1188	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	396			Helical; (Potential).		A2A333	Silent	SNP	ENST00000400906.1	37	c.1188G>A	CCDS98.2																																																																																				0.602	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420		4	53	0	0	0	0	4	53				
ZBTB17	7709	broad.mit.edu	37	1	16273491	16273491	+	Silent	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:16273491G>C	ENST00000375743.4	-	4	565	c.333C>G	c.(331-333)ctC>ctG	p.L111L	ZBTB17_ENST00000537142.1_Nonsense_Mutation_p.S22*|ZBTB17_ENST00000448462.2_Intron|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000375733.2_Silent_p.L111L	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	111					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGTGACTTGAGGGCATGGC	0.602																																						uc001axl.3		NA																	0					0						c.(331-333)CTC>CTG		zinc finger and BTB domain containing 17							72.0	68.0	70.0					1																	16273491		2203	4300	6503	SO:0001819	synonymous_variant	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16273491G>C	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.333C>G	1.37:g.16273491G>C						ZBTB17_uc010obq.1_Nonsense_Mutation_p.S21*|ZBTB17_uc010obr.1_Silent_p.L111L|ZBTB17_uc010obs.1_Silent_p.L35L|ZBTB17_uc010obt.1_Intron|ZBTB17_uc010obu.1_Silent_p.L35L|ZBTB17_uc009vom.1_Intron|ZBTB17_uc010obv.1_Silent_p.L111L	p.L111L	NM_003443	NP_003434	Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	4	572	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	111					A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Silent	SNP	ENST00000375743.4	37	c.333C>G	CCDS165.1	.	.	.	.	.	.	.	.	.	.	G	37	6.263038	0.97421	.	.	ENSG00000116809	ENST00000537142	.	.	.	5.48	3.57	0.40892	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	11.2513	0.49028	0.0:0.1372:0.72:0.1428	.	.	.	.	X	22	.	ENSP00000438529:S22X	S	-	2	0	ZBTB17	16146078	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	1.242000	0.32755	0.642000	0.30620	0.561000	0.74099	TCA		0.602	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		8	45	0	0	0	0	8	45				
HSPG2	3339	broad.mit.edu	37	1	22170783	22170783	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:22170783C>T	ENST00000374695.3	-	65	8553	c.8474G>A	c.(8473-8475)gGa>gAa	p.G2825E		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2825	Ig-like C2-type 13.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGGTGGGGCTCCACCTGGGGC	0.682																																						uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(8473-8475)GGA>GAA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						41.0	44.0	43.0					1																	22170783		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22170783C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8474G>A	1.37:g.22170783C>T	ENSP00000363827:p.Gly2825Glu					HSPG2_uc009vqd.2_Missense_Mutation_p.G2826E	p.G2825E	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	65	8514	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2825			Ig-like C2-type 13.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8474G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	3.579	-0.085928	0.07097	.	.	ENSG00000142798	ENST00000374695	T	0.75477	-0.94	4.82	1.37	0.22104	.	1.079250	0.07380	N	0.887307	T	0.60444	0.2269	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.002	T	0.42699	-0.9436	10	0.21540	T	0.41	.	7.0355	0.24991	0.443:0.4686:0.0:0.0884	.	765;2825	Q59EG0;P98160	.;PGBM_HUMAN	E	2825	ENSP00000363827:G2825E	ENSP00000363827:G2825E	G	-	2	0	HSPG2	22043370	0.000000	0.05858	0.015000	0.15790	0.507000	0.33981	-0.087000	0.11215	0.410000	0.25675	0.561000	0.74099	GGA		0.682	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		10	67	0	0	0	0	10	67				
XKR8	55113	broad.mit.edu	37	1	28293631	28293631	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:28293631C>A	ENST00000373884.5	+	3	1716	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	370					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		TCAGCTGCCTCAGAACAGGCG	0.577																																						uc001bph.1		NA																	0					0						c.(1108-1110)CAG>AAG		XK, Kell blood group complex subunit-related							53.0	54.0	54.0					1																	28293631		2203	4300	6503	SO:0001583	missense	55113					integral to membrane		g.chr1:28293631C>A	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.1108C>A	1.37:g.28293631C>A	ENSP00000362991:p.Gln370Lys						p.Q370K	NM_018053	NP_060523	Q9H6D3	XKR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)	3	1185	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	370						Missense_Mutation	SNP	ENST00000373884.5	37	c.1108C>A	CCDS315.1	.	.	.	.	.	.	.	.	.	.	C	8.157	0.788635	0.16258	.	.	ENSG00000158156	ENST00000373884	.	.	.	4.0	0.828	0.18841	.	1.535680	0.04095	N	0.311994	T	0.33644	0.0870	L	0.60455	1.87	0.09310	N	1	B	0.27498	0.18	B	0.23018	0.043	T	0.15954	-1.0419	9	0.05959	T	0.93	.	5.5006	0.16827	0.0:0.4833:0.3996:0.1171	.	370	Q9H6D3	XKR8_HUMAN	K	370	.	ENSP00000362991:Q370K	Q	+	1	0	XKR8	28166218	0.016000	0.18221	0.085000	0.20634	0.681000	0.39784	0.514000	0.22786	0.188000	0.20168	0.591000	0.81541	CAG		0.577	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1	NM_018053		10	71	1	0	9.7e-10	1.07e-09	10	71				
SERINC2	347735	broad.mit.edu	37	1	31897634	31897634	+	Silent	SNP	C	C	T	rs35593581		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:31897634C>T	ENST00000373709.3	+	3	456	c.306C>T	c.(304-306)ttC>ttT	p.F102F	SERINC2_ENST00000536384.1_Silent_p.F106F|SERINC2_ENST00000536859.1_Silent_p.F106F|SERINC2_ENST00000373710.1_Silent_p.F111F|SERINC2_ENST00000491976.1_3'UTR	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	102					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GCATGTGCTTCGCCACGGCGG	0.657													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16951	0.0		0.0	False		,,,				2504	0.0					uc010ogh.1		NA																	0					0						c.(316-318)TTC>TTT		tumor differentially expressed 2-like		C	,,,,	0,4406		0,0,2203	31.0	31.0	31.0		318,333,141,318,306	-4.3	0.5	1	dbSNP_126	31	9,8589	7.1+/-27.0	0,9,4290	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SERINC2	NM_001199037.1,NM_001199038.1,NM_001199039.1,NM_018565.3,NM_178865.4	,,,,	0,9,6493	TT,TC,CC		0.1047,0.0,0.0692	,,,,	106/460,111/465,47/401,106/460,102/456	31897634	9,12995	2203	4299	6502	SO:0001819	synonymous_variant	347735					integral to membrane		g.chr1:31897634C>T	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.306C>T	1.37:g.31897634C>T						SERINC2_uc010ogg.1_Silent_p.F103F|SERINC2_uc009vtw.1_Silent_p.F102F|SERINC2_uc001bst.2_Silent_p.F102F|SERINC2_uc001bsu.2_Silent_p.F47F|SERINC2_uc001bsv.2_Silent_p.F47F	p.F106F	NM_178865	NP_849196	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	3	519	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	102			Helical; (Potential).		A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Silent	SNP	ENST00000373709.3	37	c.318C>T	CCDS30662.1																																																																																				0.657	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		3	22	0	0	0	0	3	22				
COL16A1	1307	broad.mit.edu	37	1	32165443	32165443	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:32165443C>T	ENST00000373672.3	-	4	753	c.237G>A	c.(235-237)ctG>ctA	p.L79L	COL16A1_ENST00000271069.6_Silent_p.L79L|COL16A1_ENST00000373668.3_Silent_p.L79L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	79	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGCCGCCCCCAGGCGCAGGA	0.592																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1		NA																	0				ovary(8)	8						c.(235-237)CTG>CTA		alpha 1 type XVI collagen precursor							64.0	67.0	66.0					1																	32165443		1935	4136	6071	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32165443C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.237G>A	1.37:g.32165443C>T						COL16A1_uc001btj.1_5'Flank|COL16A1_uc001btl.3_Silent_p.L79L	p.L79L	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	4	602	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	79			TSP N-terminal.		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.237G>A	CCDS41297.1																																																																																				0.592	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		14	83	0	0	0	0	14	83				
INPP5B	3633	broad.mit.edu	37	1	38345771	38345771	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:38345771G>A	ENST00000373026.1	-	14	1767	c.1767C>T	c.(1765-1767)gaC>gaT	p.D589D	INPP5B_ENST00000373027.1_Silent_p.D345D|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373024.3_Silent_p.D509D|INPP5B_ENST00000373023.2_Silent_p.D589D			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	589	5-phosphatase. {ECO:0000250}.			GSDDWDTSEKCRAPAWCDRI -> RALTTGIPVRSAVLLPG VIGF (in Ref. 5; AA sequence). {ECO:0000305}.	in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TATCCCAGTCGTCAGAGCCCG	0.478																																						uc001ccg.1		NA																	0				urinary_tract(1)	1						c.(1525-1527)GAC>GAT		inositol polyphosphate-5-phosphatase, 75kDa							103.0	98.0	100.0					1																	38345771		1860	4099	5959	SO:0001819	synonymous_variant	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38345771G>A	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1767C>T	1.37:g.38345771G>A						INPP5B_uc009vvk.1_Silent_p.D450D|INPP5B_uc001ccf.1_Silent_p.D345D|INPP5B_uc010oij.1_RNA	p.D509D	NM_005540	NP_005531	P32019	I5P2_HUMAN			15	1621	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	589	GSDDWDTSEKCRAPAWCDRI -> RALTTGIPVRSAVLLPG VIGF (in Ref. 5; AA sequence).				C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Silent	SNP	ENST00000373026.1	37	c.1527C>T																																																																																					0.478	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		19	78	0	0	0	0	19	78				
IPO13	9670	broad.mit.edu	37	1	44422118	44422118	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:44422118C>T	ENST00000372343.3	+	3	1610	c.948C>T	c.(946-948)ggC>ggT	p.G316G	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	316					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)				TGGCCCTGGGCGAGAACCACT	0.597																																						uc001ckx.2		NA																	0				central_nervous_system(1)	1						c.(946-948)GGC>GGT		importin 13							61.0	57.0	58.0					1																	44422118		2203	4300	6503	SO:0001819	synonymous_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44422118C>T	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.948C>T	1.37:g.44422118C>T							p.G316G	NM_014652	NP_055467	O94829	IPO13_HUMAN			3	1743	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	316					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	ENST00000372343.3	37	c.948C>T	CCDS503.1																																																																																				0.597	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		16	52	0	0	0	0	16	52				
UROD	7389	broad.mit.edu	37	1	45480410	45480410	+	Silent	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:45480410C>A	ENST00000246337.4	+	8	896	c.777C>A	c.(775-777)atC>atA	p.I259I	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	259					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTTTCTAGATCATCTTTGCTA	0.527									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cna.1		NA																	0					0						c.(775-777)ATC>ATA		uroporphyrinogen decarboxylase							76.0	75.0	76.0					1																	45480410		2203	4300	6503	SO:0001819	synonymous_variant	7389	Porphyria_Cutanea_Tarda_Type_II	Familial Cancer Database	PCT-II		cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity	g.chr1:45480410C>A	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.777C>A	1.37:g.45480410C>A			OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	UROD_uc001cnb.1_Silent_p.I224I|UROD_uc010olj.1_3'UTR|UROD_uc001cnc.1_Silent_p.I164I	p.I259I	NM_000374	NP_000365	P06132	DCUP_HUMAN			8	885	+	Acute lymphoblastic leukemia(166;0.155)		259					A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Silent	SNP	ENST00000246337.4	37	c.777C>A	CCDS518.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456426	0.26161	.	.	ENSG00000126088	ENST00000428106	.	.	.	5.89	3.06	0.35304	.	.	.	.	.	T	0.58878	0.2153	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52124	-0.8617	4	.	.	.	-5.2249	9.5043	0.39037	0.0:0.6666:0.0:0.3334	.	.	.	.	N	199	.	.	H	+	1	0	UROD	45252997	0.999000	0.42202	1.000000	0.80357	0.933000	0.57130	0.599000	0.24089	0.416000	0.25844	-0.140000	0.14226	CAT		0.527	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1	NM_000374		4	33	1	0	0.00909568	0.00940813	4	33				
MUTYH	4595	broad.mit.edu	37	1	45797203	45797203	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:45797203G>A	ENST00000372098.3	-	13	1336	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	MUTYH_ENST00000372110.3_Silent_p.F391F|MUTYH_ENST00000372115.3_Silent_p.F390F|MUTYH_ENST00000448481.1_Silent_p.F387F|MUTYH_ENST00000529984.1_Silent_p.F71F|MUTYH_ENST00000528332.2_Silent_p.F85F|MUTYH_ENST00000528013.2_Silent_p.F390F|MUTYH_ENST00000372104.1_Silent_p.F376F|MUTYH_ENST00000355498.2_Silent_p.F376F|MUTYH_ENST00000354383.6_Silent_p.F377F|MUTYH_ENST00000450313.1_Silent_p.F404F|MUTYH_ENST00000372100.5_Silent_p.F387F|MUTYH_ENST00000456914.2_Silent_p.F376F|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000488731.2_Silent_p.F71F			Q9UIF7	MUTYH_HUMAN	mutY homolog	401	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TCACGGACGGGAACTCCCACA	0.657			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													uc001cnm.2		NA	yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0					0						c.(1201-1203)TTC>TTT	BER_DNA_glycosylases	mutY homolog isoform 1							30.0	32.0	32.0					1																	45797203		2203	4300	6503	SO:0001819	synonymous_variant	4595	MUTYH-associated_polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45797203G>A	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1203C>T	1.37:g.45797203G>A						MUTYH_uc009vxn.2_Silent_p.F226F|MUTYH_uc001cnf.2_Silent_p.F376F|MUTYH_uc009vxo.2_Silent_p.F376F|MUTYH_uc001cng.2_Silent_p.F387F|MUTYH_uc001cnj.2_Silent_p.F284F|MUTYH_uc001cni.2_Silent_p.F376F|MUTYH_uc001cnh.2_Silent_p.F377F|MUTYH_uc001cno.2_Silent_p.F284F|MUTYH_uc001cnk.2_Silent_p.F261F|MUTYH_uc010oll.1_Silent_p.F85F|MUTYH_uc001cnl.2_Silent_p.F390F|MUTYH_uc009vxp.2_Silent_p.F404F|MUTYH_uc001cnn.2_Silent_p.F391F	p.F401F	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN			13	1419	-	Acute lymphoblastic leukemia(166;0.155)		401			Nudix hydrolase.		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Silent	SNP	ENST00000372098.3	37	c.1203C>T	CCDS520.1	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151455	0.21371	.	.	ENSG00000132781	ENST00000529892	.	.	.	5.55	4.64	0.57946	.	.	.	.	.	T	0.59473	0.2196	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57323	-0.7831	4	.	.	.	-17.694	8.7889	0.34839	0.2248:0.0:0.7752:0.0	.	.	.	.	F	68	.	.	S	-	2	0	MUTYH	45569790	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	0.990000	0.29642	1.346000	0.45694	0.655000	0.94253	TCC		0.657	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		15	56	0	0	0	0	15	56				
TACSTD2	4070	broad.mit.edu	37	1	59042150	59042150	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:59042150C>T	ENST00000371225.2	-	1	1016	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	227					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					ATGTCCCTCTCGAAGTAGTAG	0.632																																						uc001cyz.3		NA																	0					0	GRCh37	CM074587	TACSTD2	M		c.(679-681)GAG>AAG		tumor-associated calcium signal transducer 2							15.0	18.0	17.0					1																	59042150		2199	4297	6496	SO:0001583	missense	4070				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity	g.chr1:59042150C>T	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.679G>A	1.37:g.59042150C>T	ENSP00000360269:p.Glu227Lys						p.E227K	NM_002353	NP_002344	P09758	TACD2_HUMAN			1	1017	-	all_cancers(7;6.54e-05)		227			Extracellular (Potential).		Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Missense_Mutation	SNP	ENST00000371225.2	37	c.679G>A	CCDS609.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938388	0.92526	.	.	ENSG00000184292	ENST00000371225	D	0.84873	-1.91	4.77	4.77	0.60923	.	0.134922	0.52532	D	0.000066	D	0.92280	0.7551	M	0.80183	2.485	0.48341	D	0.999637	D	0.89917	1.0	D	0.78314	0.991	D	0.93323	0.6694	10	0.87932	D	0	-19.7326	16.1584	0.81681	0.0:1.0:0.0:0.0	.	227	P09758	TACD2_HUMAN	K	227	ENSP00000360269:E227K	ENSP00000360269:E227K	E	-	1	0	TACSTD2	58814738	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.218000	0.58554	2.461000	0.83175	0.655000	0.94253	GAG		0.632	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027818.1	NM_002353		4	20	0	0	0	0	4	20				
KIAA1324	57535	broad.mit.edu	37	1	109714534	109714534	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:109714534G>A	ENST00000369939.3	+	4	697	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	KIAA1324_ENST00000529753.1_Missense_Mutation_p.E172K	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	172					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.E172K(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CAACACGGACGAATGCACAGC	0.532																																						uc001dwq.2		NA																	1	Substitution - Missense(1)		cervix(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5						c.(514-516)GAA>AAA		hypothetical protein LOC57535 precursor							122.0	97.0	106.0					1																	109714534		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109714534G>A	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.514G>A	1.37:g.109714534G>A	ENSP00000358955:p.Glu172Lys					KIAA1324_uc009wex.1_Missense_Mutation_p.E172K|KIAA1324_uc009wey.2_Missense_Mutation_p.E172K|KIAA1324_uc010ovg.1_Missense_Mutation_p.E70K	p.E172K	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	5	650	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	172			Extracellular (Potential).		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.514G>A	CCDS794.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135353	0.94517	.	.	ENSG00000116299	ENST00000531664;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.99	5.99	0.97316	.	0.048155	0.85682	D	0.000000	T	0.47040	0.1424	M	0.61703	1.905	0.44181	D	0.996999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.999	T	0.07271	-1.0781	10	0.30078	T	0.28	-13.8172	20.0857	0.97800	0.0:0.0:1.0:0.0	.	172;172;172;172	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	K	172	ENSP00000431349:E172K;ENSP00000358955:E172K;ENSP00000393964:E172K;ENSP00000434595:E172K	ENSP00000358955:E172K	E	+	1	0	KIAA1324	109516057	1.000000	0.71417	0.984000	0.44739	0.892000	0.51952	9.791000	0.99081	2.844000	0.97970	0.650000	0.86243	GAA		0.532	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		17	71	0	0	0	0	17	71				
CELSR2	1952	broad.mit.edu	37	1	109815344	109815344	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:109815344C>A	ENST00000271332.3	+	30	8198	c.8137C>A	c.(8137-8139)Cag>Aag	p.Q2713K	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2713					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCAAGACCAGCAGCATGGTGA	0.622																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(8137-8139)CAG>AAG		cadherin EGF LAG seven-pass G-type receptor 2							41.0	45.0	43.0					1																	109815344		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109815344C>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8137C>A	1.37:g.109815344C>A	ENSP00000271332:p.Gln2713Lys						p.Q2713K	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	30	8198	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2713			Cytoplasmic (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.8137C>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	9.386	1.074213	0.20227	.	.	ENSG00000143126	ENST00000271332	T	0.66099	-0.19	5.42	5.42	0.78866	.	.	.	.	.	T	0.17916	0.0430	N	0.04959	-0.14	0.27584	N	0.949504	B	0.17667	0.023	B	0.12156	0.007	T	0.02533	-1.1145	9	0.06494	T	0.89	.	12.9347	0.58307	0.1619:0.8381:0.0:0.0	.	2713	Q9HCU4	CELR2_HUMAN	K	2713	ENSP00000271332:Q2713K	ENSP00000271332:Q2713K	Q	+	1	0	CELSR2	109616867	0.988000	0.35896	1.000000	0.80357	0.856000	0.48823	0.300000	0.19156	2.549000	0.85964	0.561000	0.74099	CAG		0.622	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		12	50	1	0	0.000978159	0.00103547	12	50				
LRIG2	9860	broad.mit.edu	37	1	113657144	113657144	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:113657144C>T	ENST00000361127.5	+	15	2374	c.2176C>T	c.(2176-2178)Cgt>Tgt	p.R726C	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	726	Ig-like C2-type 3.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TCCTGCCCCTCGTCTCAACTG	0.498																																						uc001edf.1		NA																	0				ovary(3)	3						c.(2176-2178)CGT>TGT		leucine-rich repeats and immunoglobulin-like							102.0	93.0	96.0					1																	113657144		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113657144C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2176C>T	1.37:g.113657144C>T	ENSP00000355396:p.Arg726Cys					LRIG2_uc009wgn.1_Missense_Mutation_p.R623C	p.R726C	NM_014813	NP_055628	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	15	2374	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	726			Ig-like C2-type 3.|Extracellular (Potential).		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.2176C>T	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805101	0.90623	.	.	ENSG00000198799	ENST00000361127	T	0.68025	-0.3	5.3	5.3	0.74995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79411	0.4441	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81360	-0.0968	10	0.66056	D	0.02	.	18.9455	0.92621	0.0:1.0:0.0:0.0	.	726	O94898	LRIG2_HUMAN	C	726	ENSP00000355396:R726C	ENSP00000355396:R726C	R	+	1	0	LRIG2	113458667	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.461000	0.83175	0.561000	0.74099	CGT		0.498	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		11	70	0	0	0	0	11	70				
VPS45	11311	broad.mit.edu	37	1	150040002	150040002	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:150040002G>C	ENST00000369130.3	+	1	634	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	VPS45_ENST00000369128.5_Intron|VPS45_ENST00000535106.1_Missense_Mutation_p.E30Q	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	30					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.E30Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATGGATAAAGAGACGGTGAG	0.433																																						uc001etp.2		NA																	1	Substitution - Missense(1)		breast(1)	central_nervous_system(1)|skin(1)	2						c.(88-90)GAG>CAG		vacuolar protein sorting 45A							131.0	132.0	132.0					1																	150040002		2203	4300	6503	SO:0001583	missense	11311				blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		g.chr1:150040002G>C	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.88G>C	1.37:g.150040002G>C	ENSP00000358126:p.Glu30Gln					VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_5'UTR|VPS45_uc010pbs.1_Intron|VPS45_uc009wlm.1_Missense_Mutation_p.E30Q|VPS45_uc010pbr.1_Intron	p.E30Q	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	661	+	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		30					D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	ENST00000369130.3	37	c.88G>C	CCDS944.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389295	0.82902	.	.	ENSG00000136631	ENST00000369130;ENST00000535106;ENST00000419023	T;T;T	0.78246	-1.16;-1.16;-1.16	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.70885	0.3275	L	0.50333	1.59	0.80722	D	1	B;B	0.28760	0.221;0.221	B;B	0.38921	0.285;0.285	T	0.66901	-0.5806	10	0.27082	T	0.32	.	18.945	0.92618	0.0:0.0:1.0:0.0	.	30;30	Q53FR8;Q9NRW7	.;VPS45_HUMAN	Q	30	ENSP00000358126:E30Q;ENSP00000440690:E30Q;ENSP00000400143:E30Q	ENSP00000358126:E30Q	E	+	1	0	VPS45	148306626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.106000	0.94253	2.821000	0.97095	0.650000	0.86243	GAG		0.433	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259		4	49	0	0	0	0	4	49				
FLG	2312	broad.mit.edu	37	1	152284258	152284258	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:152284258G>C	ENST00000368799.1	-	3	3139	c.3104C>G	c.(3103-3105)tCc>tGc	p.S1035C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1035	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)			CTGGTGGCGGGATCCGTGTCT	0.567									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3103-3105)TCC>TGC		filaggrin							362.0	360.0	361.0					1																	152284258		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284258G>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.3104C>G	1.37:g.152284258G>C	ENSP00000357789:p.Ser1035Cys					uc001ezv.2_5'Flank	p.S1035C	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3140	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1035			Filaggrin 6.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3104C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	7.009	0.556324	0.13436	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.10477	2.87	3.61	-2.83	0.05769	.	.	.	.	.	T	0.10637	0.0260	M	0.66939	2.045	0.09310	N	1	D	0.76494	0.999	P	0.62813	0.907	T	0.04509	-1.0946	9	0.66056	D	0.02	.	6.8265	0.23887	0.0:0.348:0.3972:0.2549	.	1035	P20930	FILA_HUMAN	C	1035;242	ENSP00000357789:S1035C	ENSP00000357789:S1035C	S	-	2	0	FLG	150550882	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-1.409000	0.02483	-0.931000	0.03746	0.299000	0.19835	TCC		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		41	651	0	0	0	0	41	651				
LCE2C	353140	broad.mit.edu	37	1	152648718	152648718	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:152648718A>G	ENST00000368783.1	+	2	282	c.227A>G	c.(226-228)cAc>cGc	p.H76R	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	76	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGCCACCACAGGCCCCGT	0.682																																						uc001fah.2		NA																	0					0						c.(226-228)CAC>CGC		late cornified envelope 2C							46.0	56.0	53.0					1																	152648718		2203	4300	6503	SO:0001583	missense	353140				keratinization			g.chr1:152648718A>G		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.227A>G	1.37:g.152648718A>G	ENSP00000357772:p.His76Arg						p.H76R	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	282	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		76			Cys-rich.			Missense_Mutation	SNP	ENST00000368783.1	37	c.227A>G	CCDS1019.1	.	.	.	.	.	.	.	.	.	.	A	4.313	0.057482	0.08339	.	.	ENSG00000187180	ENST00000368783	T	0.08720	3.06	3.15	1.96	0.26148	.	.	.	.	.	T	0.04452	0.0122	M	0.79805	2.47	0.21445	N	0.999682	B	0.17667	0.023	B	0.18263	0.021	T	0.34179	-0.9839	9	0.87932	D	0	.	5.3471	0.16016	0.8595:0.0:0.1405:0.0	.	76	Q5TA81	LCE2C_HUMAN	R	76	ENSP00000357772:H76R	ENSP00000357772:H76R	H	+	2	0	LCE2C	150915342	0.997000	0.39634	1.000000	0.80357	0.398000	0.30690	0.203000	0.17315	0.393000	0.25203	0.460000	0.39030	CAC		0.682	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		4	143	0	0	0	0	4	143				
PEA15	8682	broad.mit.edu	37	1	160181434	160181434	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:160181434G>A	ENST00000360472.4	+	2	288	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	PEA15_ENST00000368077.1_Missense_Mutation_p.E34K|PEA15_ENST00000488858.1_3'UTR|PEA15_ENST00000368076.1_Missense_Mutation_p.E55K|RP11-536C5.7_ENST00000418602.1_RNA	NM_003768.3	NP_003759.1	Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	34	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|DNA damage checkpoint (GO:0000077)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of glucose import (GO:0046325)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|response to morphine (GO:0043278)|transport (GO:0006810)	cytoplasm (GO:0005737)|microtubule associated complex (GO:0005875)				large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCCCCAGCGAAAAGAGTGA	0.557																																						uc001fvk.2		NA																	0					0						c.(100-102)GAA>AAA		phosphoprotein enriched in astrocytes 15							127.0	107.0	114.0					1																	160181434		2203	4300	6503	SO:0001583	missense	8682				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding	g.chr1:160181434G>A	Y13736	CCDS1199.1, CCDS72954.1	1q21.1	2008-07-18			ENSG00000162734	ENSG00000162734			8822	protein-coding gene	gene with protein product	"""Phosphoprotein enriched in astrocytes, 15kD"", ""homolog of mouse MAT-1 oncogene"""	603434				9205133	Standard	XM_005245564		Approved	HMAT1, MAT1, PED, PEA-15, MAT1H, HUMMAT1H	uc001fvk.3	Q15121	OTTHUMG00000031605	ENST00000360472.4:c.100G>A	1.37:g.160181434G>A	ENSP00000353660:p.Glu34Lys					uc001fvj.1_5'Flank|PEA15_uc001fvl.2_Missense_Mutation_p.E55K|PEA15_uc001fvm.2_Missense_Mutation_p.E34K	p.E34K	NM_003768	NP_003759	Q15121	PEA15_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	290	+	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		34			DED.		B1AKZ3|O00511	Missense_Mutation	SNP	ENST00000360472.4	37	c.100G>A	CCDS1199.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691943	0.68271	.	.	ENSG00000162734	ENST00000360472;ENST00000368077;ENST00000368076	D;D;D	0.82344	-1.6;-1.6;-1.6	4.81	4.81	0.61882	DEATH-like (2);Death effector (3);	0.117629	0.56097	D	0.000027	T	0.73393	0.3581	N	0.24115	0.695	0.80722	D	1	P;P;B	0.46220	0.607;0.874;0.001	B;P;B	0.49665	0.054;0.618;0.004	T	0.73861	-0.3849	10	0.31617	T	0.26	5.123	16.7984	0.85608	0.0:0.0:1.0:0.0	.	34;55;34	B1AKZ5;B1AKZ3;Q15121	.;.;PEA15_HUMAN	K	34;34;55	ENSP00000353660:E34K;ENSP00000357056:E34K;ENSP00000357055:E55K	ENSP00000353660:E34K	E	+	1	0	PEA15	158448058	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.687000	0.91255	2.498000	0.84270	0.561000	0.74099	GAA		0.557	PEA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077407.1	NM_003768		12	75	0	0	0	0	12	75				
KLHL20	27252	broad.mit.edu	37	1	173744918	173744918	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:173744918G>C	ENST00000209884.4	+	10	1711	c.1575G>C	c.(1573-1575)gaG>gaC	p.E525D	KLHL20_ENST00000546011.1_Missense_Mutation_p.E336D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	525					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GCAGTGCTGAGAGATACAACC	0.507																																					GBM(159;862 2695 6559 23041)	uc001gjc.2		NA																	0				ovary(1)	1						c.(1573-1575)GAG>GAC		kelch-like 20							121.0	119.0	119.0					1																	173744918		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173744918G>C	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1575G>C	1.37:g.173744918G>C	ENSP00000209884:p.Glu525Asp					KLHL20_uc010pmr.1_Missense_Mutation_p.E336D|KLHL20_uc009wwf.2_Missense_Mutation_p.E507D	p.E525D	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN			10	1754	+			525			Kelch 5.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.1575G>C	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041563	0.75732	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	D;D	0.84070	-1.8;-1.8	5.32	5.32	0.75619	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.90253	0.6952	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.91568	0.5269	10	0.87932	D	0	.	8.2334	0.31612	0.1692:0.0:0.8308:0.0	.	336;525	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	D	336;525	ENSP00000443121:E336D;ENSP00000209884:E525D	ENSP00000209884:E525D	E	+	3	2	KLHL20	172011541	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.835000	0.55805	2.491000	0.84063	0.655000	0.94253	GAG		0.507	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		5	75	0	0	0	0	5	75				
TNN	63923	broad.mit.edu	37	1	175097823	175097823	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:175097823G>A	ENST00000239462.4	+	15	3384	c.3271G>A	c.(3271-3273)Gat>Aat	p.D1091N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1091	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTGCATGGCGATGCCAGCCG	0.602																																						uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(3271-3273)GAT>AAT		tenascin N precursor							99.0	94.0	95.0					1																	175097823		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175097823G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3271G>A	1.37:g.175097823G>A	ENSP00000239462:p.Asp1091Asn						p.D1091N	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	15	3384	+		Breast(1374;0.000962)	1091			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3271G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785264	0.49997	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.76578	-1.03	5.11	5.11	0.69529	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.049663	0.85682	D	0.000000	T	0.67590	0.2909	L	0.38953	1.18	0.42806	D	0.993945	P	0.37731	0.607	B	0.33799	0.17	T	0.67772	-0.5584	10	0.28530	T	0.3	.	15.2509	0.73545	0.0:0.0:1.0:0.0	.	1091	Q9UQP3	TENN_HUMAN	N	1091;914	ENSP00000239462:D1091N	ENSP00000239462:D1091N	D	+	1	0	TNN	173364446	1.000000	0.71417	0.051000	0.19133	0.154000	0.21943	3.010000	0.49559	2.385000	0.81259	0.462000	0.41574	GAT		0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		10	82	0	0	0	0	10	82				
PAPPA2	60676	broad.mit.edu	37	1	176740227	176740227	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:176740227C>T	ENST00000367662.3	+	17	5790	c.4626C>T	c.(4624-4626)ctC>ctT	p.L1542L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1542	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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						CTCACTGCCTCCAGGACAACC	0.488																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4624-4626)CTC>CTT		pappalysin 2 isoform 1							127.0	121.0	123.0					1																	176740227		2081	4225	6306	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176740227C>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.4626C>T	1.37:g.176740227C>T						PAPPA2_uc009www.2_RNA	p.L1542L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			17	5790	+			1542			Sushi 3.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.4626C>T	CCDS41438.1																																																																																				0.488	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			7	61	0	0	0	0	7	61				
LAMC1	3915	broad.mit.edu	37	1	183103932	183103932	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:183103932G>C	ENST00000258341.4	+	23	4244	c.3987G>C	c.(3985-3987)aaG>aaC	p.K1329N		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1329	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AGAAAGGCAAGACTGAACAGC	0.428																																						uc001gpy.3		NA																	0				ovary(3)|large_intestine(1)|kidney(1)	5						c.(3985-3987)AAG>AAC		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						114.0	128.0	124.0					1																	183103932		2203	4299	6502	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183103932G>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3987G>C	1.37:g.183103932G>C	ENSP00000258341:p.Lys1329Asn						p.K1329N	NM_002293	NP_002284	P11047	LAMC1_HUMAN			23	4244	+			1329			Potential.|Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.3987G>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906230	0.52333	.	.	ENSG00000135862	ENST00000258341	T	0.78707	-1.2	5.64	2.58	0.30949	.	0.144811	0.64402	D	0.000009	T	0.73892	0.3645	M	0.72118	2.19	0.54753	D	0.999989	P	0.45902	0.868	B	0.42319	0.383	T	0.69621	-0.5096	10	0.45353	T	0.12	.	8.209	0.31473	0.3641:0.0:0.6359:0.0	.	1329	P11047	LAMC1_HUMAN	N	1329	ENSP00000258341:K1329N	ENSP00000258341:K1329N	K	+	3	2	LAMC1	181370555	1.000000	0.71417	0.245000	0.24217	0.816000	0.46133	1.506000	0.35747	0.236000	0.21180	-0.140000	0.14226	AAG		0.428	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		32	174	0	0	0	0	32	174				
LAMC1	3915	broad.mit.edu	37	1	183106903	183106903	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:183106903G>C	ENST00000258341.4	+	26	4671	c.4414G>C	c.(4414-4416)Gaa>Caa	p.E1472Q	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1472	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E1472*(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GCAGGAAGCAGAAAAAGAGCT	0.428																																						uc001gpy.3		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(3)|large_intestine(1)|kidney(1)	5						c.(4414-4416)GAA>CAA		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						89.0	85.0	86.0					1																	183106903		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183106903G>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4414G>C	1.37:g.183106903G>C	ENSP00000258341:p.Glu1472Gln						p.E1472Q	NM_002293	NP_002284	P11047	LAMC1_HUMAN			26	4671	+			1472			Potential.|Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.4414G>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773346	0.90108	.	.	ENSG00000135862	ENST00000258341	D	0.82619	-1.63	5.64	5.64	0.86602	.	0.095731	0.64402	D	0.000001	D	0.82614	0.5075	L	0.32530	0.975	0.80722	D	1	D	0.59767	0.986	P	0.49637	0.617	D	0.84121	0.0406	10	0.59425	D	0.04	.	19.7095	0.96089	0.0:0.0:1.0:0.0	.	1472	P11047	LAMC1_HUMAN	Q	1472	ENSP00000258341:E1472Q	ENSP00000258341:E1472Q	E	+	1	0	LAMC1	181373526	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	8.810000	0.91950	2.647000	0.89833	0.655000	0.94253	GAA		0.428	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		6	32	0	0	0	0	6	32				
PRG4	10216	broad.mit.edu	37	1	186276564	186276565	+	Missense_Mutation	DNP	CA	CA	TG	rs534202903|rs558640103	byFrequency	TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:186276564_186276565CA>TG	ENST00000445192.2	+	7	1758_1759	c.1713_1714CA>TG	c.(1711-1716)acCAcc>acTGcc	p.T572A	PRG4_ENST00000367485.4_Missense_Mutation_p.T479A|PRG4_ENST00000367483.4_Missense_Mutation_p.T531A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T529A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	572	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T572A(1)|p.T571T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACCACCCCCAAGAA	0.644																																						uc001gru.3		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|prostate(1)	skin(1)	1						c.(1711-1716)ACCACC>ACTGCC		proteoglycan 4 isoform A																																				SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276564_186276565CA>TG	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	Exception_encountered	1.37:g.186276564_186276565delinsTG	ENSP00000399679:p.Thr572Ala					PRG4_uc001grt.3_Missense_Mutation_p.T531A|PRG4_uc009wyl.2_Missense_Mutation_p.T479A|PRG4_uc009wym.2_Missense_Mutation_p.T438A|PRG4_uc010poo.1_Intron	p.T572A	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1764_1765	+			572			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|29.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	DNP	ENST00000445192.2	37	c.1713_1714CA>TG	CCDS1369.1																																																																																				0.644	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	106	0	0	0	0	4	106				
PRG4	10216	broad.mit.edu	37	1	186277112	186277112	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:186277112C>G	ENST00000445192.2	+	7	2306	c.2261C>G	c.(2260-2262)cCt>cGt	p.P754R	PRG4_ENST00000367485.4_Missense_Mutation_p.P661R|PRG4_ENST00000367483.4_Missense_Mutation_p.P713R|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.P711R	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	754	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCAACTACCCCTAAGGGGACT	0.602																																						uc001gru.3		NA																	0				skin(1)	1						c.(2260-2262)CCT>CGT		proteoglycan 4 isoform A							164.0	186.0	178.0					1																	186277112		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277112C>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2261C>G	1.37:g.186277112C>G	ENSP00000399679:p.Pro754Arg					PRG4_uc001grt.3_Missense_Mutation_p.P713R|PRG4_uc009wyl.2_Missense_Mutation_p.P661R|PRG4_uc009wym.2_Missense_Mutation_p.P620R|PRG4_uc010poo.1_Intron	p.P754R	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	2312	+			754			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|47; approximate.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2261C>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	4.780	0.145011	0.09134	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.06218	3.34;3.56;3.33;3.53	2.78	0.675	0.17952	.	0.000000	0.41712	U	0.000829	T	0.06050	0.0157	L	0.43923	1.385	0.09310	N	0.999997	P;P;P;P	0.41784	0.762;0.762;0.649;0.762	B;B;B;B	0.42422	0.387;0.272;0.14;0.272	T	0.29731	-1.0002	9	.	.	.	.	5.3982	0.16281	0.0:0.6612:0.2065:0.1323	.	620;661;754;713	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	R	711;620;713;661;754	ENSP00000356456:P711R;ENSP00000356453:P713R;ENSP00000356455:P661R;ENSP00000399679:P754R	.	P	+	2	0	PRG4	184543735	0.001000	0.12720	0.000000	0.03702	0.151000	0.21798	0.363000	0.20301	-0.128000	0.11641	0.186000	0.17326	CCT		0.602	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		40	172	0	0	0	0	40	172				
C1orf106	55765	broad.mit.edu	37	1	200880920	200880920	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:200880920G>A	ENST00000367342.4	+	9	1754	c.1554G>A	c.(1552-1554)ccG>ccA	p.P518P	C1orf106_ENST00000413687.2_Silent_p.P433P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	518										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCTATTTCCCGGCGGGGCGGT	0.726																																						uc001gvo.2		NA																	0				skin(2)|ovary(1)	3						c.(1552-1554)CCG>CCA		hypothetical protein LOC55765 isoform 1							11.0	14.0	13.0					1																	200880920		2173	4226	6399	SO:0001819	synonymous_variant	55765							g.chr1:200880920G>A	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1554G>A	1.37:g.200880920G>A						C1orf106_uc010ppm.1_Silent_p.P433P	p.P518P	NM_018265	NP_060735	Q3KP66	CA106_HUMAN			9	1584	+			518					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37	c.1554G>A																																																																																					0.726	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		13	48	0	0	0	0	13	48				
CDC42BPA	8476	broad.mit.edu	37	1	227268658	227268658	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:227268658C>A	ENST00000366769.3	-	17	3707	c.2416G>T	c.(2416-2418)Gat>Tat	p.D806Y	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D806Y|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D806Y|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D806Y|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D725Y|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D806Y|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D806Y	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTGCTAGATCTTTAACCTCT	0.358																																						uc001hqr.2		NA																	0				lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(2416-2418)GAT>TAT		CDC42-binding protein kinase alpha isoform B							215.0	193.0	201.0					1																	227268658		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227268658C>A	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2416G>T	1.37:g.227268658C>A	ENSP00000355731:p.Asp806Tyr					CDC42BPA_uc001hqq.2_Missense_Mutation_p.D70Y|CDC42BPA_uc001hqs.2_Missense_Mutation_p.D725Y|CDC42BPA_uc009xes.2_Missense_Mutation_p.D806Y|CDC42BPA_uc010pvs.1_Missense_Mutation_p.D806Y|CDC42BPA_uc001hqp.2_5'UTR|CDC42BPA_uc001hqu.1_5'UTR	p.D806Y	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			17	3359	-		all_cancers(173;0.156)|Prostate(94;0.0792)	806			Potential.			Missense_Mutation	SNP	ENST00000366769.3	37	c.2416G>T	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.415101|4.415101	0.83449|0.83449	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054	T;T;T;T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98;0.98;0.98;0.98|.	5.49|5.49	4.58|4.58	0.56647|0.56647	.|.	0.152289|.	0.56097|.	D|.	0.000021|.	T|T	0.67711|0.67711	0.2922|0.2922	L|L	0.54323|0.54323	1.7|1.7	0.54753|0.54753	D|D	0.999981|0.999981	D;D;D;P;D|.	0.65815|.	0.995;0.98;0.984;0.942;0.98|.	P;P;P;P;P|.	0.62560|.	0.904;0.807;0.894;0.786;0.891|.	T|T	0.65845|0.65845	-0.6069|-0.6069	10|5	0.56958|.	D|.	0.05|.	.|.	14.3755|14.3755	0.66869|0.66869	0.0:0.9284:0.0:0.0716|0.0:0.9284:0.0:0.0716	.|.	806;806;725;806;806|.	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5;Q5VT25-2|.	.;.;.;.;.|.	Y|I	806;725;806;806;806;70;806;806|8;99	ENSP00000355731:D806Y;ENSP00000355729:D725Y;ENSP00000335341:D806Y;ENSP00000355728:D806Y;ENSP00000355726:D806Y;ENSP00000443275:D806Y;ENSP00000355727:D806Y|.	ENSP00000335341:D806Y|.	D|R	-|-	1|2	0|0	CDC42BPA|CDC42BPA	225335281|225335281	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.984000|0.984000	0.73092|0.73092	4.596000|4.596000	0.61055|0.61055	1.311000|1.311000	0.45024|0.45024	0.591000|0.591000	0.81541|0.81541	GAT|AGA		0.358	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		18	64	1	0	2e-07	2.19e-07	18	64				
CUBN	8029	broad.mit.edu	37	10	17164832	17164832	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:17164832C>G	ENST00000377833.4	-	6	620	c.555G>C	c.(553-555)caG>caC	p.Q185H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	185	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCCTCCATTCTGGCAGCTCA	0.383																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(553-555)CAG>CAC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						88.0	76.0	80.0					10																	17164832		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17164832C>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.555G>C	10.37:g.17164832C>G	ENSP00000367064:p.Gln185His						p.Q185H	NM_001081	NP_001072	O60494	CUBN_HUMAN			6	607	-			185			EGF-like 2; calcium-binding (Potential).		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.555G>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897126	0.72639	.	.	ENSG00000107611	ENST00000377833;ENST00000433666	D;T	0.92048	-2.96;1.21	5.22	3.27	0.37495	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.186721	0.26349	N	0.024890	D	0.87653	0.6231	L	0.48642	1.525	0.80722	D	1	P	0.34864	0.473	B	0.35039	0.194	D	0.87123	0.2192	10	0.54805	T	0.06	.	9.6435	0.39853	0.1418:0.7843:0.0:0.0739	.	185	O60494	CUBN_HUMAN	H	185;72	ENSP00000367064:Q185H;ENSP00000415970:Q72H	ENSP00000367064:Q185H	Q	-	3	2	CUBN	17204838	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.502000	0.35704	2.432000	0.82394	0.655000	0.94253	CAG		0.383	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		12	45	0	0	0	0	12	45				
KIAA1462	57608	broad.mit.edu	37	10	30317105	30317105	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:30317105C>G	ENST00000375377.1	-	3	2073	c.1972G>C	c.(1972-1974)Gac>Cac	p.D658H		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	658					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTTTGTCTGTCTTCTTCTGGT	0.517																																						uc001iux.2		NA																	0				ovary(4)	4						c.(1972-1974)GAC>CAC		hypothetical protein LOC57608							158.0	149.0	152.0					10																	30317105		1960	4157	6117	SO:0001583	missense	57608							g.chr10:30317105C>G	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1972G>C	10.37:g.30317105C>G	ENSP00000364526:p.Asp658His					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.D520H|KIAA1462_uc009xle.1_Missense_Mutation_p.D658H	p.D658H	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	2031	-			658					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.1972G>C	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759208	0.49468	.	.	ENSG00000165757	ENST00000375377	T	0.13089	2.62	4.49	1.08	0.20341	.	0.586624	0.19262	N	0.118655	T	0.14830	0.0358	L	0.36672	1.1	0.09310	N	1	D	0.69078	0.997	P	0.60473	0.875	T	0.17715	-1.0360	10	0.13108	T	0.6	-16.5482	3.1057	0.06341	0.322:0.4623:0.1178:0.0978	.	658	Q9P266	K1462_HUMAN	H	658	ENSP00000364526:D658H	ENSP00000364526:D658H	D	-	1	0	KIAA1462	30357111	0.288000	0.24324	0.001000	0.08648	0.443000	0.32047	1.314000	0.33597	0.853000	0.35312	0.561000	0.74099	GAC		0.517	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		8	51	0	0	0	0	8	51				
GRID1	2894	broad.mit.edu	37	10	87487785	87487785	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:87487785C>G	ENST00000327946.7	-	10	1445	c.1360G>C	c.(1360-1362)Gag>Cag	p.E454Q	GRID1_ENST00000536331.1_Missense_Mutation_p.E25Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	454					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						AGGATGTTCTCAGCCACCATC	0.448										Multiple Myeloma(13;0.14)																												uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(1360-1362)GAG>CAG		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						149.0	144.0	146.0					10																	87487785		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87487785C>G	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1360G>C	10.37:g.87487785C>G	ENSP00000330148:p.Glu454Gln	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.E25Q	p.E454Q	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			10	1461	-			454			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1360G>C	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293459	0.80914	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.30182	1.54;1.54	5.62	4.69	0.59074	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.092754	0.64402	D	0.000001	T	0.54447	0.1859	M	0.69823	2.125	0.80722	D	1	D	0.62365	0.991	D	0.72982	0.979	T	0.59348	-0.7471	10	0.72032	D	0.01	.	14.8216	0.70077	0.145:0.855:0.0:0.0	.	454	Q9ULK0	GRID1_HUMAN	Q	454;25	ENSP00000330148:E454Q;ENSP00000444455:E25Q	ENSP00000330148:E454Q	E	-	1	0	GRID1	87477765	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.818000	0.86416	1.322000	0.45245	0.650000	0.86243	GAG		0.448	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		17	156	0	0	0	0	17	156				
FAM35A	54537	broad.mit.edu	37	10	88946848	88946848	+	Silent	SNP	G	G	A	rs533541206	byFrequency	TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:88946848G>A	ENST00000298784.1	+	8	2313	c.2199G>A	c.(2197-2199)gcG>gcA	p.A733A	FAM35A_ENST00000298786.4_Silent_p.A802A	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	733										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GTAGGCCAGCGTTAATGACTG	0.353													G|||	4	0.000798722	0.0	0.0	5008	,	,		15976	0.0		0.0	False		,,,				2504	0.0041				Ovarian(175;703 2004 25460 32514 43441)	uc001kei.3		NA																	0				ovary(2)|skin(2)	4						c.(2197-2199)GCG>GCA		hypothetical protein LOC54537							178.0	147.0	157.0					10																	88946848		2203	4300	6503	SO:0001819	synonymous_variant	54537							g.chr10:88946848G>A	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.2199G>A	10.37:g.88946848G>A						FAM35A_uc001kej.3_Silent_p.A179A	p.A733A	NM_019054	NP_061927	Q86V20	FA35A_HUMAN			8	2313	+			733					O95885|Q9H991	Silent	SNP	ENST00000298784.1	37	c.2199G>A	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	G	4.499	0.092642	0.08632	.	.	ENSG00000122376	ENST00000342900	.	.	.	3.13	0.625	0.17665	.	.	.	.	.	T	0.41719	0.1171	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22977	-1.0201	4	.	.	.	-10.2394	1.0692	0.01618	0.3008:0.0957:0.1602:0.4433	.	.	.	.	I	457	.	.	V	+	1	0	FAM35A	88936828	0.918000	0.31147	0.989000	0.46669	0.049000	0.14656	-0.099000	0.11007	0.026000	0.15269	-1.188000	0.01700	GTT		0.353	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		4	44	0	0	0	0	4	44				
SH3PXD2A	9644	broad.mit.edu	37	10	105362900	105362900	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:105362900G>C	ENST00000369774.4	-	15	2351	c.2075C>G	c.(2074-2076)tCa>tGa	p.S692*	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Nonsense_Mutation_p.S559*|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Nonsense_Mutation_p.S527*|SH3PXD2A_ENST00000355946.2_Nonsense_Mutation_p.S664*			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	692	Ser-rich.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGTGATGGATGAGGAAAAGGA	0.542																																						uc001kxj.1		NA																	0					0						c.(1990-1992)TCA>TGA		SH3 multiple domains 1							113.0	129.0	124.0					10																	105362900		2203	4300	6503	SO:0001587	stop_gained	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362900G>C	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2075C>G	10.37:g.105362900G>C	ENSP00000358789:p.Ser692*					SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Nonsense_Mutation_p.S499*|SH3PXD2A_uc010qqt.1_Nonsense_Mutation_p.S541*|SH3PXD2A_uc009xxn.1_Nonsense_Mutation_p.S499*|SH3PXD2A_uc010qqu.1_Nonsense_Mutation_p.S607*	p.S664*	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	14	2131	-		Colorectal(252;0.0815)|Breast(234;0.131)	692			Ser-rich.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Nonsense_Mutation	SNP	ENST00000369774.4	37	c.1991C>G		.	.	.	.	.	.	.	.	.	.	G	21.9	4.222980	0.79464	.	.	ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.	.	.	5.42	4.45	0.53987	.	0.000000	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-16.8879	11.2972	0.49284	0.0:0.1838:0.8162:0.0	.	.	.	.	X	692;664;499;607;559;527	.	ENSP00000318135:S499X	S	-	2	0	SH3PXD2A	105352890	1.000000	0.71417	0.980000	0.43619	0.975000	0.68041	4.462000	0.60121	2.543000	0.85770	0.561000	0.74099	TCA		0.542	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		26	144	0	0	0	0	26	144				
COL17A1	1308	broad.mit.edu	37	10	105814753	105814753	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:105814753C>G	ENST00000353479.5	-	20	2020	c.1730G>C	c.(1729-1731)aGt>aCt	p.S577T	COL17A1_ENST00000480127.1_5'Flank|COL17A1_ENST00000369733.3_Missense_Mutation_p.S577T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	577	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGGCCTGGACTTCCCATGTC	0.383																																						uc001kxr.2		NA																	0				ovary(4)|pancreas(1)	5						c.(1729-1731)AGT>ACT		alpha 1 type XVII collagen							71.0	66.0	68.0					10																	105814753		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105814753C>G	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1730G>C	10.37:g.105814753C>G	ENSP00000340937:p.Ser577Thr					COL17A1_uc010qqv.1_Missense_Mutation_p.S561T	p.S577T	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	20	1899	-		Colorectal(252;0.103)|Breast(234;0.122)	577			Extracellular (Potential).|Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.1730G>C	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033658	0.35893	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872	D;D	0.93547	-3.24;-3.24	4.82	2.79	0.32731	.	0.387208	0.22037	N	0.065513	D	0.88269	0.6391	L	0.39467	1.215	0.80722	D	1	B;B	0.23128	0.065;0.08	B;B	0.29077	0.059;0.098	T	0.80926	-0.1164	10	0.13853	T	0.58	-2.3353	10.0995	0.42495	0.4937:0.5063:0.0:0.0	.	577;577	Q9UMD9-2;Q9UMD9	.;COHA1_HUMAN	T	577;577;561	ENSP00000340937:S577T;ENSP00000358748:S577T	ENSP00000340937:S577T	S	-	2	0	COL17A1	105804743	0.992000	0.36948	1.000000	0.80357	0.888000	0.51559	0.387000	0.20718	1.238000	0.43771	0.555000	0.69702	AGT		0.383	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		3	26	0	0	0	0	3	26				
BTBD16	118663	broad.mit.edu	37	10	124097537	124097537	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:124097537G>C	ENST00000260723.4	+	16	1709	c.1458G>C	c.(1456-1458)ttG>ttC	p.L486F	BTBD16_ENST00000368994.2_Missense_Mutation_p.L487F	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	486										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTTAGACCTTGAAAATCCAAA	0.403																																						uc001lgc.1		NA																	0				skin(1)	1						c.(1456-1458)TTG>TTC		BTB (POZ) domain containing 16							144.0	138.0	140.0					10																	124097537		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124097537G>C	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1458G>C	10.37:g.124097537G>C	ENSP00000260723:p.Leu486Phe					BTBD16_uc001lgd.1_Missense_Mutation_p.L485F	p.L486F	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN			16	1709	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	486					A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.1458G>C	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774420	0.31411	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.21543	2.0;2.0	5.08	2.22	0.28083	.	28.505900	0.00166	N	0.000000	T	0.20129	0.0484	N	0.20986	0.625	0.30379	N	0.782101	P;P	0.51537	0.946;0.946	P;P	0.46253	0.509;0.509	T	0.15607	-1.0431	10	0.32370	T	0.25	-17.7615	7.43	0.27122	0.2747:0.0:0.7253:0.0	.	487;486	Q32M84-2;Q32M84	.;BTBDG_HUMAN	F	486;487	ENSP00000260723:L486F;ENSP00000357990:L487F	ENSP00000260723:L486F	L	+	3	2	BTBD16	124087527	1.000000	0.71417	0.866000	0.34008	0.816000	0.46133	1.642000	0.37207	0.270000	0.21984	0.650000	0.86243	TTG		0.403	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		6	38	0	0	0	0	6	38				
DUSP8	1850	broad.mit.edu	37	11	1579116	1579116	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:1579116G>A	ENST00000397374.3	-	6	856	c.729C>T	c.(727-729)atC>atT	p.I243I	DUSP8_ENST00000331588.4_Silent_p.I243I|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	243	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GACAGTGGACGATGACTTGGC	0.617																																						uc001lts.2		NA																	0					0						c.(727-729)ATC>ATT		dual specificity phosphatase 8							136.0	124.0	128.0					11																	1579116		2202	4299	6501	SO:0001819	synonymous_variant	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1579116G>A		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.729C>T	11.37:g.1579116G>A							p.I243I	NM_004420	NP_004411	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	6	857	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	243			Tyrosine-protein phosphatase.		Q86SS8	Silent	SNP	ENST00000397374.3	37	c.729C>T	CCDS7724.1																																																																																				0.617	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		13	60	0	0	0	0	13	60				
TRIM68	55128	broad.mit.edu	37	11	4622349	4622349	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:4622349G>C	ENST00000300747.5	-	6	1104	c.815C>G	c.(814-816)tCt>tGt	p.S272C		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	272					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S272F(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAAGCTCCAAGATTTGCTCCT	0.547																																						uc001lzf.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(814-816)TCT>TGT		ring finger protein 137							100.0	97.0	98.0					11																	4622349		2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4622349G>C	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.815C>G	11.37:g.4622349G>C	ENSP00000300747:p.Ser272Cys					TRIM68_uc001lzg.1_Missense_Mutation_p.S49C|TRIM68_uc010qyj.1_Intron	p.S272C	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	6	1053	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	272					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.815C>G	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739946	0.49045	.	.	ENSG00000167333	ENST00000300747;ENST00000526337	T;T	0.04758	3.56;3.56	5.12	5.12	0.69794	.	0.129364	0.36167	N	0.002746	T	0.09949	0.0244	M	0.78049	2.395	0.54753	D	0.999985	B	0.06786	0.001	B	0.09377	0.004	T	0.01729	-1.1286	10	0.59425	D	0.04	.	14.7603	0.69602	0.0:0.0:1.0:0.0	.	272	Q6AZZ1	TRI68_HUMAN	C	272;49	ENSP00000300747:S272C;ENSP00000434681:S49C	ENSP00000300747:S272C	S	-	2	0	TRIM68	4578925	0.006000	0.16342	1.000000	0.80357	0.904000	0.53231	0.681000	0.25320	2.764000	0.94973	0.561000	0.74099	TCT		0.547	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		12	95	0	0	0	0	12	95				
OR52E2	119678	broad.mit.edu	37	11	5080352	5080352	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:5080352G>A	ENST00000321522.2	-	1	505	c.506C>T	c.(505-507)cCc>cTc	p.P169L		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	169						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(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCACAGAAGGGCAACCGCAA	0.418																																						uc010qyw.1		NA																	0				ovary(2)|skin(1)	3						c.(505-507)CCC>CTC		olfactory receptor, family 52, subfamily E,							83.0	77.0	79.0					11																	5080352		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080352G>A	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.506C>T	11.37:g.5080352G>A	ENSP00000322088:p.Pro169Leu						p.P169L	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	506	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	169			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000321522.2	37	c.506C>T	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514033	0.27123	.	.	ENSG00000176787	ENST00000321522	T	0.00158	8.65	3.76	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000072	T	0.00496	0.0016	M	0.91920	3.255	0.09310	N	0.999997	D	0.60575	0.988	D	0.65323	0.934	T	0.16660	-1.0395	10	0.72032	D	0.01	.	10.9779	0.47478	0.0956:0.0:0.9044:0.0	.	169	Q8NGJ4	O52E2_HUMAN	L	169	ENSP00000322088:P169L	ENSP00000322088:P169L	P	-	2	0	OR52E2	5036928	0.000000	0.05858	0.402000	0.26371	0.353000	0.29299	0.640000	0.24705	1.197000	0.43143	0.644000	0.83932	CCC		0.418	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		3	24	0	0	0	0	3	24				
OR56A1	120796	broad.mit.edu	37	11	6048851	6048851	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:6048851C>G	ENST00000316650.5	-	1	120	c.84G>C	c.(82-84)caG>caC	p.Q28H		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGCCAACTCTGGAAGTTGG	0.577																																						uc010qzw.1		NA																	0				ovary(2)|breast(1)	3						c.(82-84)CAG>CAC		olfactory receptor, family 56, subfamily A,							95.0	92.0	93.0					11																	6048851		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048851C>G	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.84G>C	11.37:g.6048851C>G	ENSP00000321246:p.Gln28His						p.Q28H	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	84	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	28			Extracellular (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.84G>C	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	0.386	-0.926305	0.02377	.	.	ENSG00000180934	ENST00000316650	T	0.00378	7.67	4.27	1.17	0.20885	.	0.000000	0.40554	N	0.001072	T	0.00210	0.0006	N	0.02842	-0.48	0.09310	N	1	P	0.48016	0.904	P	0.54924	0.764	T	0.56360	-0.7992	10	0.87932	D	0	.	5.3844	0.16211	0.0:0.4995:0.3212:0.1793	.	28	Q8NGH5	O56A1_HUMAN	H	28	ENSP00000321246:Q28H	ENSP00000321246:Q28H	Q	-	3	2	OR56A1	6005427	0.657000	0.27393	0.000000	0.03702	0.041000	0.13682	0.639000	0.24690	0.140000	0.18849	-0.176000	0.13171	CAG		0.577	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		7	111	0	0	0	0	7	111				
ANO5	203859	broad.mit.edu	37	11	22301307	22301307	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:22301307T>C	ENST00000324559.8	+	22	3055	c.2738T>C	c.(2737-2739)cTc>cCc	p.L913P		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	913					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAATCAACACTCTAATCAGTA	0.408																																						uc001mqi.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(2737-2739)CTC>CCC		anoctamin 5 isoform a							39.0	42.0	41.0					11																	22301307		2201	4298	6499	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22301307T>C	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2738T>C	11.37:g.22301307T>C	ENSP00000315371:p.Leu913Pro					ANO5_uc001mqj.2_Missense_Mutation_p.L912P	p.L913P	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			22	3055	+			913			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.2738T>C	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.485348	0.26686	.	.	ENSG00000171714	ENST00000324559	T	0.73047	-0.71	5.53	-0.41	0.12374	.	1.441890	0.03769	N	0.259430	T	0.50429	0.1615	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46233	-0.9206	10	0.87932	D	0	.	5.7226	0.17995	0.0:0.2532:0.1722:0.5745	.	913	Q75V66	ANO5_HUMAN	P	913	ENSP00000315371:L913P	ENSP00000315371:L913P	L	+	2	0	ANO5	22257883	0.008000	0.16893	0.000000	0.03702	0.003000	0.03518	1.033000	0.30191	0.094000	0.17404	-0.290000	0.09829	CTC		0.408	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		5	22	0	0	0	0	5	22				
TTC17	55761	broad.mit.edu	37	11	43436245	43436245	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:43436245G>C	ENST00000039989.4	+	16	2184	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	TTC17_ENST00000299240.6_Missense_Mutation_p.E724Q|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	724					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.E724Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAAATGTCCAGAGTGTGAAAA	0.438																																						uc001mxi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(2170-2172)GAG>CAG		tetratricopeptide repeat domain 17							152.0	158.0	156.0					11																	43436245		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43436245G>C	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2170G>C	11.37:g.43436245G>C	ENSP00000039989:p.Glu724Gln					TTC17_uc001mxh.2_Missense_Mutation_p.E724Q|TTC17_uc010rfj.1_Missense_Mutation_p.E667Q|TTC17_uc001mxj.2_Missense_Mutation_p.E494Q	p.E724Q	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			16	2184	+			724					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2170G>C	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445639	0.43429	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.58940	0.3;0.3	5.3	5.3	0.74995	Tetratricopeptide-like helical (1);	0.050300	0.85682	D	0.000000	T	0.40094	0.1103	N	0.12746	0.255	0.38167	D	0.939218	P;B;P	0.43578	0.714;0.192;0.811	B;B;B	0.36534	0.113;0.046;0.227	T	0.42882	-0.9425	10	0.28530	T	0.3	-17.9129	18.9556	0.92657	0.0:0.0:1.0:0.0	.	724;724;724	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	Q	724	ENSP00000299240:E724Q;ENSP00000039989:E724Q	ENSP00000039989:E724Q	E	+	1	0	TTC17	43392821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.745000	0.68672	2.464000	0.83262	0.563000	0.77884	GAG		0.438	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		9	91	0	0	0	0	9	91				
PYGM	5837	broad.mit.edu	37	11	64521767	64521767	+	Silent	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:64521767C>G	ENST00000164139.3	-	9	1448	c.1050G>C	c.(1048-1050)ctG>ctC	p.L350L	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Silent_p.L262L	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	350					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGATCCTCATCAGCTCGGGGA	0.632																																						uc001oax.3		NA																	0				ovary(2)	2						c.(1048-1050)CTG>CTC		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						74.0	73.0	73.0					11																	64521767		2201	4297	6498	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64521767C>G		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1050G>C	11.37:g.64521767C>G						PYGM_uc001oay.3_Silent_p.L262L	p.L350L	NM_005609	NP_005600	P11217	PYGM_HUMAN			9	1867	-			350					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.1050G>C	CCDS8079.1																																																																																				0.632	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		5	66	0	0	0	0	5	66				
SF3B2	10992	broad.mit.edu	37	11	65829169	65829169	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:65829169G>A	ENST00000322535.6	+	15	1841	c.1792G>A	c.(1792-1794)Gag>Aag	p.E598K	SF3B2_ENST00000528302.1_Missense_Mutation_p.E581K	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	598					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GAAGGAGTTCGAGACACGACT	0.498																																						uc001ogy.1		NA																	0				ovary(2)|breast(1)	3						c.(1792-1794)GAG>AAG		splicing factor 3B subunit 2							117.0	114.0	115.0					11																	65829169		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65829169G>A	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1792G>A	11.37:g.65829169G>A	ENSP00000318861:p.Glu598Lys						p.E598K	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			15	1832	+			598					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.1792G>A	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	G	36	5.613738	0.96637	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.78	5.78	0.91487	.	0.048251	0.85682	N	0.000000	D	0.87184	0.6114	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90182	0.4243	9	0.87932	D	0	-37.1684	17.5142	0.87768	0.0:0.0:1.0:0.0	.	598	Q13435	SF3B2_HUMAN	K	581;598;502	.	ENSP00000318861:E598K	E	+	1	0	SF3B2	65585745	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.324000	0.96373	2.729000	0.93468	0.650000	0.86243	GAG		0.498	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			8	35	0	0	0	0	8	35				
DPP3	10072	broad.mit.edu	37	11	66272236	66272236	+	Missense_Mutation	SNP	C	C	T	rs199617262		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:66272236C>T	ENST00000360510.2	+	17	2097	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C	DPP3_ENST00000532677.1_Missense_Mutation_p.R697C|DPP3_ENST00000541961.1_Missense_Mutation_p.R678C|DPP3_ENST00000530165.1_Missense_Mutation_p.R648C|DPP3_ENST00000531863.1_Missense_Mutation_p.R698C|DPP3_ENST00000453114.1_Missense_Mutation_p.R678C			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	678			R -> H (in dbSNP:rs2305535). {ECO:0000269|PubMed:9425109, ECO:0000269|Ref.1}.		proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCCCAACACTCGCCTTGAAGG	0.567																																						uc001oig.1		NA																	0				ovary(1)|skin(1)	2						c.(2032-2034)CGC>TGC		dipeptidyl peptidase III							113.0	100.0	104.0					11																	66272236		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66272236C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.2032C>T	11.37:g.66272236C>T	ENSP00000353701:p.Arg678Cys					DPP3_uc001oif.1_Missense_Mutation_p.R678C|DPP3_uc010rpe.1_Missense_Mutation_p.R667C|DPP3_uc001oih.1_Silent_p.L45L	p.R678C	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN			17	2094	+			678					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.2032C>T	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813354	0.32053	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807;ENST00000347422	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.43	4.32	0.51571	.	0.391294	0.27691	N	0.018250	T	0.22742	0.0549	L	0.43152	1.355	0.27715	N	0.945338	B;B	0.17852	0.024;0.007	B;B	0.17098	0.016;0.017	T	0.07809	-1.0753	10	0.41790	T	0.15	.	12.4791	0.55831	0.0:0.9045:0.0:0.0955	.	697;678	G3V1D3;Q9NY33	.;DPP3_HUMAN	C	698;697;678;678;678;648;576;258	ENSP00000432782:R698C;ENSP00000435284:R697C;ENSP00000353701:R678C;ENSP00000389943:R678C;ENSP00000440502:R678C;ENSP00000436941:R648C	ENSP00000309957:R258C	R	+	1	0	DPP3	66028812	0.994000	0.37717	0.995000	0.50966	0.982000	0.71751	2.952000	0.49097	2.612000	0.88384	0.549000	0.68633	CGC		0.567	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			19	101	0	0	0	0	19	101				
CTSF	8722	broad.mit.edu	37	11	66335085	66335085	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:66335085G>A	ENST00000310325.5	-	3	470	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	121					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTCCTTCCGCAGCAGCACG	0.592																																						uc001oip.2		NA																	0					0						c.(361-363)CGG>TGG		cathepsin F precursor							92.0	94.0	93.0					11																	66335085		2200	4295	6495	SO:0001583	missense	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66335085G>A	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.361C>T	11.37:g.66335085G>A	ENSP00000310832:p.Arg121Trp						p.R121W	NM_003793	NP_003784	Q9UBX1	CATF_HUMAN			3	451	-			121					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.361C>T	CCDS8144.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954797	0.34471	.	.	ENSG00000174080	ENST00000310325;ENST00000526010	T;T	0.74947	-0.89;0.6	4.97	1.26	0.21427	.	0.413240	0.23303	N	0.049648	T	0.62282	0.2415	L	0.29908	0.895	0.33206	D	0.552746	D	0.69078	0.997	P	0.47299	0.543	T	0.68409	-0.5416	10	0.66056	D	0.02	.	5.7876	0.18343	0.0:0.0938:0.3455:0.5607	.	121	Q9UBX1	CATF_HUMAN	W	121;29	ENSP00000310832:R121W;ENSP00000435822:R29W	ENSP00000310832:R121W	R	-	1	2	CTSF	66091661	0.443000	0.25641	0.993000	0.49108	0.013000	0.08279	0.139000	0.16036	0.317000	0.23160	-0.521000	0.04368	CGG		0.592	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		12	135	0	0	0	0	12	135				
APOA5	116519	broad.mit.edu	37	11	116662530	116662530	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:116662530G>A	ENST00000227665.4	-	1	81	c.47C>T	c.(46-48)tCa>tTa	p.S16L	APOA5_ENST00000542499.1_Missense_Mutation_p.S16L			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	16					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		AGACCCACCTGAAAGAAGAGC	0.632											OREG0003485|OREG0021366	type=REGULATORY REGION|Gene=APOA5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ppr.2		NA																	0					0						c.(46-48)TCA>TTA		apolipoprotein AV precursor							60.0	51.0	54.0					11																	116662530		2201	4296	6497	SO:0001583	missense	116519				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116662530G>A	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.47C>T	11.37:g.116662530G>A	ENSP00000227665:p.Ser16Leu		OREG0021366|OREG0003485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|Gene=APOA5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1475	APOA5_uc009yze.2_Missense_Mutation_p.S16L|APOA5_uc009yzf.2_Missense_Mutation_p.S16L|APOA5_uc009yzg.2_Intron	p.S16L	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	1	55	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	16					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.47C>T	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799914	0.50208	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	T;T;T	0.76578	-0.61;-0.61;-1.03	5.41	3.56	0.40772	.	0.643109	0.13779	N	0.363380	T	0.70081	0.3183	L	0.46157	1.445	0.23893	N	0.996545	B	0.06786	0.001	B	0.08055	0.003	T	0.61836	-0.6981	10	0.59425	D	0.04	-1.6294	8.7332	0.34512	0.24:0.0:0.76:0.0	.	16	Q6Q788	APOA5_HUMAN	L	16	ENSP00000227665:S16L;ENSP00000445002:S16L;ENSP00000399701:S16L	ENSP00000227665:S16L	S	-	2	0	APOA5	116167740	0.986000	0.35501	0.992000	0.48379	0.764000	0.43329	1.887000	0.39698	0.861000	0.35504	0.561000	0.74099	TCA		0.632	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			4	30	0	0	0	0	4	30				
ABCG4	64137	broad.mit.edu	37	11	119025544	119025544	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:119025544C>G	ENST00000449422.2	+	6	793	c.605C>G	c.(604-606)tCt>tGt	p.S202C	ABCG4_ENST00000307417.3_Missense_Mutation_p.S202C|ABCG4_ENST00000531739.1_Missense_Mutation_p.S202C	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	202	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S202Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCCCTGCTCTCTGGCGGGCAG	0.622																																						uc001pvs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(604-606)TCT>TGT		ATP-binding cassette, subfamily G, member 4							117.0	109.0	112.0					11																	119025544		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119025544C>G	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.605C>G	11.37:g.119025544C>G	ENSP00000406874:p.Ser202Cys					ABCG4_uc009zar.2_Missense_Mutation_p.S202C	p.S202C	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	941	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	202			Cytoplasmic (Potential).|ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.605C>G	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268819	0.80469	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.74106	-0.81;-0.81;-0.81	5.11	4.13	0.48395	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.167823	0.56097	D	0.000040	D	0.91815	0.7410	H	0.99435	4.565	0.58432	D	0.999996	D	0.89917	1.0	D	0.72982	0.979	D	0.94822	0.7988	10	0.87932	D	0	-26.1318	14.3175	0.66463	0.1491:0.8509:0.0:0.0	.	202	Q9H172	ABCG4_HUMAN	C	202	ENSP00000304111:S202C;ENSP00000406874:S202C;ENSP00000434318:S202C	ENSP00000304111:S202C	S	+	2	0	ABCG4	118530754	1.000000	0.71417	0.962000	0.40283	0.870000	0.49936	5.989000	0.70587	2.386000	0.81285	0.491000	0.48974	TCT		0.622	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		17	142	0	0	0	0	17	142				
OR8B4	283162	broad.mit.edu	37	11	124294739	124294739	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:124294739G>A	ENST00000356130.3	-	1	50	c.29C>T	c.(28-30)aCt>aTt	p.T10I		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GATAAACTCAGTCACTGAGGA	0.488																																						uc010sak.1		NA																	0				skin(1)	1						c.(28-30)ACT>ATT		olfactory receptor, family 8, subfamily B,							44.0	41.0	42.0					11																	124294739		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294739G>A	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.29C>T	11.37:g.124294739G>A	ENSP00000348449:p.Thr10Ile						p.T10I	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	29	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	10			Extracellular (Potential).		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.29C>T	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	g	11.63	1.697063	0.30142	.	.	ENSG00000198657	ENST00000356130	T	0.02158	4.42	4.7	2.79	0.32731	.	0.113872	0.39274	N	0.001403	T	0.04543	0.0124	M	0.79693	2.465	0.21105	N	0.999786	B	0.12630	0.006	B	0.14578	0.011	T	0.19877	-1.0292	10	0.62326	D	0.03	.	9.8002	0.40759	0.1652:0.0:0.8348:0.0	.	10	Q96RC9	OR8B4_HUMAN	I	10	ENSP00000348449:T10I	ENSP00000348449:T10I	T	-	2	0	OR8B4	123799949	0.060000	0.20803	0.977000	0.42913	0.996000	0.88848	1.643000	0.37217	0.686000	0.31488	0.655000	0.94253	ACT		0.488	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		6	45	0	0	0	0	6	45				
C12orf5	57103	broad.mit.edu	37	12	4459054	4459054	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:4459054C>T	ENST00000179259.4	+	4	329	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	88					intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410)	intracellular (GO:0005622)	fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			CTCAAGACTTCGGGAAAGGGT	0.353																																					Colon(1;100 192 35375 49454 52532)	uc001qmp.2		NA																	0				skin(1)	1						c.(262-264)CGG>TGG		TP53-induced glycolysis and apoptosis regulator							88.0	90.0	90.0					12																	4459054		2203	4300	6503	SO:0001583	missense	57103					intracellular	fructose-2,6-bisphosphate 2-phosphatase activity	g.chr12:4459054C>T	AJ272206	CCDS8525.1	12p13.32	2014-05-29	2009-11-24	2009-11-24	ENSG00000078237	ENSG00000078237	3.1.3.46		1185	protein-coding gene	gene with protein product	"""TP53-induced glycolysis and apoptosis regulator"""	610775				16140933, 16839880, 18945750, 19713938	Standard	NM_020375		Approved	TIGAR	uc001qmp.3	Q9NQ88		ENST00000179259.4:c.262C>T	12.37:g.4459054C>T	ENSP00000179259:p.Arg88Trp						p.R88W	NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)		4	341	+			88					B2R840	Missense_Mutation	SNP	ENST00000179259.4	37	c.262C>T	CCDS8525.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.888035	0.72524	.	.	ENSG00000078237	ENST00000179259	T	0.75260	-0.92	4.58	4.58	0.56647	Histidine phosphatase superfamily, clade-1 (2);	0.060855	0.64402	D	0.000004	D	0.89128	0.6627	M	0.91717	3.235	0.50313	D	0.999867	D	0.89917	1.0	D	0.91635	0.999	D	0.91562	0.5265	10	0.72032	D	0.01	-14.6441	17.9219	0.88969	0.0:1.0:0.0:0.0	.	88	Q9NQ88	TIGAR_HUMAN	W	88	ENSP00000179259:R88W	ENSP00000179259:R88W	R	+	1	2	C12orf5	4329315	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	5.004000	0.63966	2.536000	0.85505	0.655000	0.94253	CGG		0.353	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398290.1	NM_020375		8	27	0	0	0	0	8	27				
PCBP2	5094	broad.mit.edu	37	12	53849783	53849783	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:53849783G>T	ENST00000439930.3	+	4	263	c.241G>T	c.(241-243)Gag>Tag	p.E81*	PCBP2_ENST00000603815.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000549863.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000548933.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000546463.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000359462.5_Nonsense_Mutation_p.E81*|PCBP2_ENST00000552296.2_Nonsense_Mutation_p.E81*|PCBP2_ENST00000541275.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000455667.3_Nonsense_Mutation_p.E81*|PCBP2_ENST00000552819.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000437231.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000359282.5_Nonsense_Mutation_p.E81*|PCBP2_ENST00000447282.1_Nonsense_Mutation_p.E81*|RP11-793H13.8_ENST00000547717.1_RNA			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	81					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CAAACTGGAAGAGGTTTGTTG	0.413																																						uc001sdl.3		NA																	0					0						c.(241-243)GAG>TAG		poly(rC) binding protein 2 isoform d							230.0	220.0	224.0					12																	53849783		2203	4300	6503	SO:0001587	stop_gained	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53849783G>T	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.241G>T	12.37:g.53849783G>T	ENSP00000408949:p.Glu81*					PCBP2_uc001sdc.3_Nonsense_Mutation_p.E81*|PCBP2_uc001sdb.3_Nonsense_Mutation_p.E81*|PCBP2_uc001sde.3_Nonsense_Mutation_p.E81*|PCBP2_uc001sdi.3_Nonsense_Mutation_p.E81*|PCBP2_uc001sdd.3_Nonsense_Mutation_p.E81*|PCBP2_uc001sdf.3_Nonsense_Mutation_p.E81*|PCBP2_uc009zna.2_Intron|PCBP2_uc010soh.1_Nonsense_Mutation_p.E81*|PCBP2_uc009zmz.1_Intron	p.E81*	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN			5	591	+			81					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Nonsense_Mutation	SNP	ENST00000439930.3	37	c.241G>T	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773486	0.90108	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000546463;ENST00000551104;ENST00000550520;ENST00000552296;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000546652;ENST00000379777	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.2185	0.89894	0.0:0.0:1.0:0.0	.	.	.	.	X	81;81;81;81;81;81;81;81;81;73;81;81;81;81;62;43	.	ENSP00000352228:E81X	E	+	1	0	PCBP2	52136050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.407000	0.97325	2.838000	0.97847	0.655000	0.94253	GAG		0.413	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		15	189	1	0	2.35e-11	2.61e-11	15	189				
GRIP1	23426	broad.mit.edu	37	12	66786483	66786483	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:66786483G>T	ENST00000398016.3	-	17	2155	c.2087C>A	c.(2086-2088)aCc>aAc	p.T696N	GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000286445.7_Missense_Mutation_p.T748N|GRIP1_ENST00000359742.4_Missense_Mutation_p.T748N	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AATTTTCAAGGTGACAGTCTC	0.428																																						uc001stk.2		NA																	0				ovary(2)	2						c.(2086-2088)ACC>AAC		glutamate receptor interacting protein 1							159.0	148.0	151.0					12																	66786483		1882	4113	5995	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66786483G>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2087C>A	12.37:g.66786483G>T	ENSP00000381098:p.Thr696Asn					GRIP1_uc010sta.1_Missense_Mutation_p.T640N|GRIP1_uc001stj.2_Missense_Mutation_p.T478N|GRIP1_uc001stl.1_Missense_Mutation_p.T588N|GRIP1_uc001stm.2_Missense_Mutation_p.T696N	p.T696N	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	17	2328	-			748			PDZ 6.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2087C>A	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.555505|4.555505	0.86231|0.86231	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|T;T;T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51;1.51;1.51	4.9|4.9	4.9|4.9	0.64082|0.64082	.|PDZ/DHR/GLGF (4);	.|0.093237	.|0.64402	.|D	.|0.000001	T|T	0.54532|0.54532	0.1864|0.1864	M|M	0.70108|0.70108	2.13|2.13	0.80722|0.80722	D|D	1|1	.|P;B;B;D	.|0.65815	.|0.863;0.389;0.149;0.995	.|P;B;B;D	.|0.66497	.|0.494;0.292;0.26;0.944	T|T	0.52480|0.52480	-0.8570|-0.8570	5|9	.|.	.|.	.|.	-20.3857|-20.3857	18.6552|18.6552	0.91450|0.91450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|696;748;696;748	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	T|N	563|696;748;748;696;640;588	.|ENSP00000381098:T696N;ENSP00000352780:T748N;ENSP00000286445:T748N;ENSP00000446047:T696N;ENSP00000446024:T640N;ENSP00000446011:T588N	.|.	P|T	-|-	1|2	0|0	GRIP1|GRIP1	65072750|65072750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.657000|9.657000	0.98554|0.98554	2.728000|2.728000	0.93425|0.93425	0.462000|0.462000	0.41574|0.41574	CCT|ACC		0.428	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			10	94	1	0	0.000442599	0.000474089	10	94				
PTPRB	5787	broad.mit.edu	37	12	70931979	70931979	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:70931979C>G	ENST00000261266.5	-	26	5277	c.5248G>C	c.(5248-5250)Gat>Cat	p.D1750H	RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1660H|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1880H|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1660H|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1660H|PTPRB_ENST00000334414.6_Missense_Mutation_p.D1968H	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1750	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D1750Y(2)|p.D1968Y(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGATCATCATCTACATTGGAG	0.478																																						uc001swb.3		NA																	3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(5248-5250)GAT>CAT		protein tyrosine phosphatase, receptor type, B							186.0	183.0	184.0					12																	70931979		2109	4262	6371	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70931979C>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5248G>C	12.37:g.70931979C>G	ENSP00000261266:p.Asp1750His					uc001svz.2_RNA|PTPRB_uc010sto.1_Missense_Mutation_p.D1660H|PTPRB_uc010stp.1_Missense_Mutation_p.D1660H|PTPRB_uc001swc.3_Missense_Mutation_p.D1968H|PTPRB_uc001swa.3_Missense_Mutation_p.D1880H	p.D1750H	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		26	5278	-	Renal(347;0.236)		1750			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5248G>C	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993381	0.93167	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67	5.67	5.67	0.87782	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.047128	0.85682	D	0.000000	T	0.36524	0.0970	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.73708	0.96;0.96;0.981;0.976;0.941	T	0.01492	-1.1341	10	0.56958	D	0.05	.	19.7763	0.96395	0.0:1.0:0.0:0.0	.	1660;1660;1968;1750;1880	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	H	1968;1660;1880;1660;1660;1750	ENSP00000334928:D1968H;ENSP00000393028:D1660H;ENSP00000448058:D1880H;ENSP00000438927:D1660H;ENSP00000447302:D1660H;ENSP00000261266:D1750H	ENSP00000261266:D1750H	D	-	1	0	PTPRB	69218246	1.000000	0.71417	0.897000	0.35233	0.915000	0.54546	6.079000	0.71291	2.687000	0.91594	0.563000	0.77884	GAT		0.478	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			10	58	0	0	0	0	10	58				
PMCH	5367	broad.mit.edu	37	12	102591364	102591364	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:102591364G>T	ENST00000329406.4	-	1	259	c.185C>A	c.(184-186)tCc>tAc	p.S62Y		NM_002674.2	NP_002665.2	P20382	MCH_HUMAN	pro-melanin-concentrating hormone	62					cell differentiation (GO:0030154)|feeding behavior (GO:0007631)|multicellular organismal development (GO:0007275)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						TTGTTCCAGGGAAGGAGCAAT	0.353																																						uc001tjl.2		NA																	0					0						c.(184-186)TCC>TAC		pro-melanin-concentrating hormone							120.0	116.0	118.0					12																	102591364		2202	4300	6502	SO:0001583	missense	5367				cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity	g.chr12:102591364G>T	M57703	CCDS31885.1	12q23.2	2013-02-26			ENSG00000183395	ENSG00000183395		"""Endogenous ligands"""	9109	protein-coding gene	gene with protein product		176795				2149166	Standard	NM_002674		Approved	MCH	uc001tjl.3	P20382	OTTHUMG00000170479	ENST00000329406.4:c.185C>A	12.37:g.102591364G>T	ENSP00000332225:p.Ser62Tyr						p.S62Y	NM_002674	NP_002665	P20382	MCH_HUMAN			1	251	-			62					Q16044|Q8WVG0	Missense_Mutation	SNP	ENST00000329406.4	37	c.185C>A	CCDS31885.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008427	0.35415	.	.	ENSG00000183395	ENST00000329406	.	.	.	5.52	4.64	0.57946	.	0.464307	0.23916	N	0.043300	T	0.30293	0.0760	L	0.27053	0.805	0.29000	N	0.887538	P	0.37955	0.612	B	0.37833	0.259	T	0.20338	-1.0278	9	0.49607	T	0.09	.	9.6273	0.39759	0.1724:0.0:0.8276:0.0	.	62	P20382	MCH_HUMAN	Y	62	.	ENSP00000332225:S62Y	S	-	2	0	PMCH	101115494	0.876000	0.30132	1.000000	0.80357	0.993000	0.82548	1.619000	0.36965	1.343000	0.45638	0.655000	0.94253	TCC		0.353	PMCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409337.1	NM_002674		10	39	1	0	0.00621372	0.0064766	10	39				
APPL2	55198	broad.mit.edu	37	12	105568151	105568151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:105568151G>A	ENST00000258530.3	-	21	2161	c.1936C>T	c.(1936-1938)Caa>Taa	p.Q646*	APPL2_ENST00000546731.1_Nonsense_Mutation_p.Q89*|APPL2_ENST00000551662.1_Nonsense_Mutation_p.Q652*|APPL2_ENST00000539978.2_Nonsense_Mutation_p.Q603*	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCATCTGGTTGATCGTTTAAC	0.453																																						uc001tlf.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(1936-1938)CAA>TAA		adaptor protein, phosphotyrosine interaction, PH							234.0	192.0	206.0					12																	105568151		2203	4300	6503	SO:0001587	stop_gained	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105568151G>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1936C>T	12.37:g.105568151G>A	ENSP00000258530:p.Gln646*					APPL2_uc010swt.1_Nonsense_Mutation_p.Q603*|APPL2_uc001tlg.1_Nonsense_Mutation_p.Q400*|APPL2_uc010swu.1_Nonsense_Mutation_p.Q652*	p.Q646*	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			21	2154	-			646					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Nonsense_Mutation	SNP	ENST00000258530.3	37	c.1936C>T	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	G	36	5.825135	0.96989	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000546731;ENST00000551662;ENST00000553109	.	.	.	5.93	4.07	0.47477	.	0.164278	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.3534	17.2869	0.87145	0.0:0.3502:0.6498:0.0	.	.	.	.	X	646;603;89;652;177	.	ENSP00000258530:Q646X	Q	-	1	0	APPL2	104092281	0.053000	0.20554	0.987000	0.45799	0.917000	0.54804	1.103000	0.31062	0.818000	0.34468	-0.176000	0.13171	CAA		0.453	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		7	43	0	0	0	0	7	43				
RIC8B	55188	broad.mit.edu	37	12	107245264	107245264	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:107245264G>A	ENST00000392839.2	+	7	1304	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	RIC8B_ENST00000355478.2_Missense_Mutation_p.E360K|RIC8B_ENST00000392837.4_Missense_Mutation_p.E400K|RIC8B_ENST00000549643.1_Intron	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	400					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						AAATCGACCTGAAGTTGGCTC	0.448																																						uc001tlx.2		NA																	0				ovary(1)	1						c.(1198-1200)GAA>AAA		resistance to inhibitors of cholinesterase 8							183.0	157.0	166.0					12																	107245264		2203	4300	6503	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107245264G>A	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.1198G>A	12.37:g.107245264G>A	ENSP00000376583:p.Glu400Lys					RIC8B_uc001tlw.2_Missense_Mutation_p.E400K|RIC8B_uc001tly.2_Missense_Mutation_p.E360K|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA	p.E400K	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN			7	1323	+			400					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.1198G>A	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	G	36	5.832706	0.97003	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478	T;T;T	0.51817	0.69;0.69;0.69	5.59	5.59	0.84812	Synembryn (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.84948	2.725	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.83275	0.994;0.994;0.996	T	0.72620	-0.4238	10	0.36615	T	0.2	-7.5071	19.5832	0.95478	0.0:0.0:1.0:0.0	.	360;400;400	Q9NVN3-3;Q9NVN3;B7WPL0	.;RIC8B_HUMAN;.	K	400;400;360	ENSP00000376582:E400K;ENSP00000376583:E400K;ENSP00000347662:E360K	ENSP00000347662:E360K	E	+	1	0	RIC8B	105769394	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.644000	0.89710	0.585000	0.79938	GAA		0.448	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		8	76	0	0	0	0	8	76				
RIC8B	55188	broad.mit.edu	37	12	107245315	107245315	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:107245315G>A	ENST00000392839.2	+	7	1355	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	RIC8B_ENST00000355478.2_Missense_Mutation_p.D377N|RIC8B_ENST00000392837.4_Missense_Mutation_p.D417N|RIC8B_ENST00000549643.1_Intron	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	417					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GACACATGTTGACCTTGGAGT	0.448																																						uc001tlx.2		NA																	0				ovary(1)	1						c.(1249-1251)GAC>AAC		resistance to inhibitors of cholinesterase 8							166.0	146.0	153.0					12																	107245315		2203	4300	6503	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107245315G>A	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.1249G>A	12.37:g.107245315G>A	ENSP00000376583:p.Asp417Asn					RIC8B_uc001tlw.2_Missense_Mutation_p.D417N|RIC8B_uc001tly.2_Missense_Mutation_p.D377N|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA	p.D417N	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN			7	1374	+			417					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.1249G>A	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	G	35	5.528488	0.96446	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478	T;T;T	0.49432	0.78;0.78;0.78	5.46	5.46	0.80206	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.66196	-0.5984	10	0.26408	T	0.33	-7.4765	19.3026	0.94149	0.0:0.0:1.0:0.0	.	377;417;417	Q9NVN3-3;Q9NVN3;B7WPL0	.;RIC8B_HUMAN;.	N	417;417;377	ENSP00000376582:D417N;ENSP00000376583:D417N;ENSP00000347662:D377N	ENSP00000347662:D377N	D	+	1	0	RIC8B	105769445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.579000	0.87056	0.491000	0.48974	GAC		0.448	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		6	68	0	0	0	0	6	68				
ATXN2	6311	broad.mit.edu	37	12	111956093	111956093	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:111956093G>A	ENST00000377617.3	-	9	1766	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	ATXN2_ENST00000550104.1_Silent_p.F535F|ATXN2_ENST00000389153.4_Silent_p.F270F|ATXN2_ENST00000542287.2_Silent_p.F270F|ATXN2_ENST00000535949.1_Silent_p.F246F|ATXN2_ENST00000608853.1_Silent_p.F375F|ATXN2_ENST00000549455.1_5'Flank	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	535					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AATTCGGGTTGAAATCTGAAG	0.423																																						uc001tsj.2		NA																	0				ovary(1)|breast(1)	2						c.(1603-1605)TTC>TTT		ataxin 2							112.0	109.0	110.0					12																	111956093		2203	4300	6503	SO:0001819	synonymous_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111956093G>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1605C>T	12.37:g.111956093G>A						ATXN2_uc001tsh.2_Silent_p.F270F|ATXN2_uc001tsi.2_Silent_p.F246F|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Silent_p.F270F	p.F535F	NM_002973	NP_002964	Q99700	ATX2_HUMAN			9	1767	-			535					A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	c.1605C>T	CCDS31902.1																																																																																				0.423	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		15	73	0	0	0	0	15	73				
MED13L	23389	broad.mit.edu	37	12	116429339	116429339	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:116429339G>C	ENST00000281928.3	-	17	3626	c.3420C>G	c.(3418-3420)atC>atG	p.I1140M		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1140						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCGCCCCTTTGATGTTCATGT	0.473																																						uc001tvw.2		NA																	0				skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(3418-3420)ATC>ATG		mediator complex subunit 13-like							69.0	68.0	68.0					12																	116429339		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116429339G>C	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.3420C>G	12.37:g.116429339G>C	ENSP00000281928:p.Ile1140Met						p.I1140M	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	17	3475	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1140					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.3420C>G	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859317	0.32884	.	.	ENSG00000123066	ENST00000281928	D	0.85861	-2.04	5.35	3.49	0.39957	.	0.208913	0.50627	D	0.000115	T	0.81465	0.4828	M	0.62088	1.915	0.43394	D	0.995516	P	0.41041	0.736	B	0.39465	0.3	T	0.81955	-0.0696	10	0.62326	D	0.03	.	8.7429	0.34569	0.3288:0.0:0.6712:0.0	.	1140	Q71F56	MD13L_HUMAN	M	1140	ENSP00000281928:I1140M	ENSP00000281928:I1140M	I	-	3	3	MED13L	114913722	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.676000	0.25247	1.500000	0.48636	-0.225000	0.12378	ATC		0.473	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			16	70	0	0	0	0	16	70				
AKAP11	11215	broad.mit.edu	37	13	42873613	42873613	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr13:42873613C>T	ENST00000025301.2	+	8	906	c.731C>T	c.(730-732)tCa>tTa	p.S244L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	244	Ser-rich.				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)		CAGCAGAAGTCATTGGCTAAA	0.443																																						uc001uys.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(730-732)TCA>TTA		A-kinase anchor protein 11							103.0	98.0	100.0					13																	42873613		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42873613C>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.731C>T	13.37:g.42873613C>T	ENSP00000025301:p.Ser244Leu						p.S244L	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	906	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	244			Ser-rich.		O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.731C>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694625	0.48202	.	.	ENSG00000023516	ENST00000025301	T	0.52526	0.66	5.43	5.43	0.79202	.	0.382414	0.25241	N	0.032098	T	0.59609	0.2206	M	0.64997	1.995	0.48830	D	0.999712	P	0.52842	0.956	P	0.51016	0.656	T	0.62248	-0.6894	10	0.62326	D	0.03	.	19.6166	0.95636	0.0:1.0:0.0:0.0	.	244	Q9UKA4	AKA11_HUMAN	L	244	ENSP00000025301:S244L	ENSP00000025301:S244L	S	+	2	0	AKAP11	41771613	0.998000	0.40836	0.975000	0.42487	0.708000	0.40852	1.774000	0.38573	2.721000	0.93114	0.655000	0.94253	TCA		0.443	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		15	56	0	0	0	0	15	56				
PCDH17	27253	broad.mit.edu	37	13	58208221	58208221	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr13:58208221C>T	ENST00000377918.3	+	1	1567	c.1541C>T	c.(1540-1542)tCg>tTg	p.S514L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	514	Cadherin 5. {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)	p.S514L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATCCTGCCCTCGCACATCGGC	0.592																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1540-1542)TCG>TTG		protocadherin 17 precursor							47.0	46.0	46.0					13																	58208221		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208221C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1541C>T	13.37:g.58208221C>T	ENSP00000367151:p.Ser514Leu					PCDH17_uc010aec.1_Missense_Mutation_p.S514L	p.S514L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2433	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	514			Extracellular (Potential).|Cadherin 5.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1541C>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553128	0.65425	.	.	ENSG00000118946	ENST00000377918	T	0.52526	0.66	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.105411	0.64402	D	0.000002	T	0.65893	0.2735	M	0.73430	2.235	0.58432	D	0.999991	D;D	0.69078	0.996;0.997	P;P	0.61397	0.883;0.888	T	0.65768	-0.6088	9	.	.	.	.	15.7959	0.78409	0.0:0.8265:0.1735:0.0	.	514;514	O14917-2;O14917	.;PCD17_HUMAN	L	514	ENSP00000367151:S514L	.	S	+	2	0	PCDH17	57106222	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	5.162000	0.64942	2.740000	0.93945	0.561000	0.74099	TCG		0.592	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		8	39	0	0	0	0	8	39				
RNF219	79596	broad.mit.edu	37	13	79209281	79209281	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr13:79209281C>T	ENST00000282003.6	-	5	660	c.602G>A	c.(601-603)cGa>cAa	p.R201Q		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	201							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AGCCTTCAGTCGTAAATTCTC	0.343																																						uc001vkw.1		NA																	0				large_intestine(2)	2						c.(601-603)CGA>CAA		ring finger protein 219							134.0	133.0	134.0					13																	79209281		2203	4300	6503	SO:0001583	missense	79596						zinc ion binding	g.chr13:79209281C>T	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.602G>A	13.37:g.79209281C>T	ENSP00000282003:p.Arg201Gln					RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Intron	p.R201Q	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	5	661	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	201			Potential.		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	c.602G>A	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	C	36	5.657742	0.96734	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.79076	0.4385	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78856	-0.2039	9	0.72032	D	0.01	-7.9526	20.4082	0.99013	0.0:1.0:0.0:0.0	.	201	Q5W0B1	RN219_HUMAN	Q	201	.	ENSP00000282003:R201Q	R	-	2	0	RNF219	78107282	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.474000	0.66781	2.814000	0.96858	0.655000	0.94253	CGA		0.343	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		7	50	0	0	0	0	7	50				
GPC6	10082	broad.mit.edu	37	13	94938726	94938726	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr13:94938726C>A	ENST00000377047.4	+	5	1616	c.1001C>A	c.(1000-1002)tCt>tAt	p.S334Y		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	334					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ATGCAGGTGTCTGCAAAGGTA	0.418																																						uc001vlt.2		NA																	0					0						c.(1000-1002)TCT>TAT		glypican 6 precursor							97.0	87.0	90.0					13																	94938726		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94938726C>A	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1001C>A	13.37:g.94938726C>A	ENSP00000366246:p.Ser334Tyr					GPC6_uc010tig.1_Missense_Mutation_p.S334Y	p.S334Y	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			5	1633	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	334					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.1001C>A	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631372	0.87660	.	.	ENSG00000183098	ENST00000377047	T	0.54479	0.57	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.78941	0.4363	M	0.90252	3.1	0.51233	D	0.999918	D;D	0.69078	0.997;0.997	D;D	0.71184	0.964;0.972	T	0.82657	-0.0349	10	0.87932	D	0	.	19.9283	0.97112	0.0:1.0:0.0:0.0	.	334;334	B4E2M1;Q9Y625	.;GPC6_HUMAN	Y	334	ENSP00000366246:S334Y	ENSP00000366246:S334Y	S	+	2	0	GPC6	93736727	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.478000	0.81082	2.708000	0.92522	0.585000	0.79938	TCT		0.418	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		5	41	1	0	0.00116845	0.0012321	5	41				
CDH24	64403	broad.mit.edu	37	14	23523465	23523465	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:23523465G>A	ENST00000267383.5	-	5	949	c.857C>T	c.(856-858)cCa>cTa	p.P286L	CDH24_ENST00000554034.1_Missense_Mutation_p.P286L|CDH24_ENST00000397359.3_Missense_Mutation_p.P286L|CDH24_ENST00000487137.2_Missense_Mutation_p.P286L			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	286	Cadherin 3. {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)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCCCAGGTCTGGGTCCTGGGC	0.637																																						uc001wil.2		NA																	0				central_nervous_system(1)	1						c.(856-858)CCA>CTA		cadherin-like 24 isoform 1							89.0	91.0	90.0					14																	23523465		2203	4300	6503	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23523465G>A	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.857C>T	14.37:g.23523465G>A	ENSP00000267383:p.Pro286Leu					CDH24_uc010akf.2_Missense_Mutation_p.P286L|CDH24_uc001win.3_Missense_Mutation_p.P286L	p.P286L	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	1117	-	all_cancers(95;3.3e-05)		286			Extracellular (Potential).|Cadherin 3.		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.857C>T	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168610	0.38315	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	0.137657	0.49305	D	0.000154	T	0.54382	0.1855	N	0.25031	0.7	0.50813	D	0.999891	D;B;D	0.89917	0.999;0.209;1.0	D;B;D	0.75484	0.964;0.225;0.986	T	0.52230	-0.8603	10	0.32370	T	0.25	.	16.7124	0.85389	0.0:0.0:1.0:0.0	.	286;286;286	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	L	286	ENSP00000380517:P286L;ENSP00000434821:P286L;ENSP00000452493:P286L;ENSP00000267383:P286L	ENSP00000267383:P286L	P	-	2	0	CDH24	22593305	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	2.248000	0.43160	2.469000	0.83416	0.655000	0.94253	CCA		0.637	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		35	164	0	0	0	0	35	164				
MYH7	4625	broad.mit.edu	37	14	23897712	23897712	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:23897712C>T	ENST00000355349.3	-	15	1737	c.1575G>A	c.(1573-1575)gaG>gaA	p.E525E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	525	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAGGCACCTTCTCGATGAGGT	0.502																																						uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(1573-1575)GAG>GAA		myosin, heavy chain 7, cardiac muscle, beta							208.0	152.0	171.0					14																	23897712		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23897712C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1575G>A	14.37:g.23897712C>T							p.E525E	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	15	1681	-	all_cancers(95;2.54e-05)		525			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.1575G>A	CCDS9601.1																																																																																				0.502	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		7	50	0	0	0	0	7	50				
FAM179B	23116	broad.mit.edu	37	14	45432505	45432505	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:45432505C>G	ENST00000361577.3	+	1	1095	c.881C>G	c.(880-882)tCt>tGt	p.S294C	FAM179B_ENST00000361462.2_Missense_Mutation_p.S294C|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.S294C|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	294										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGGTTTCAATCTTACATTTCT	0.498																																						uc001wvv.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(880-882)TCT>TGT		hypothetical protein LOC23116							71.0	76.0	74.0					14																	45432505		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45432505C>G	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.881C>G	14.37:g.45432505C>G	ENSP00000355045:p.Ser294Cys					FAM179B_uc001wvw.2_Missense_Mutation_p.S294C|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.S294C|FAM179B_uc001wvu.2_Missense_Mutation_p.S294C	p.S294C	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			1	1090	+			294					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.881C>G	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539941	0.27563	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.56776	0.44;0.44;0.44	4.84	4.84	0.62591	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.50627	D	0.000102	T	0.57227	0.2039	N	0.19112	0.55	0.33012	D	0.527653	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.81914	0.984;0.994;0.995;0.984	T	0.67848	-0.5564	10	0.72032	D	0.01	-6.2361	13.3062	0.60352	0.0:1.0:0.0:0.0	.	294;294;294;294	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	C	294	ENSP00000355045:S294C;ENSP00000354917:S294C;ENSP00000371668:S294C	ENSP00000354917:S294C	S	+	2	0	FAM179B	44502255	0.633000	0.27181	0.904000	0.35570	0.045000	0.14185	2.318000	0.43779	2.509000	0.84616	0.561000	0.74099	TCT		0.498	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		20	89	0	0	0	0	20	89				
PPM1A	5494	broad.mit.edu	37	14	60750214	60750214	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:60750214G>C	ENST00000395076.4	+	2	1223	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	PPM1A_ENST00000529574.1_Missense_Mutation_p.E265Q|PPM1A_ENST00000325642.3_Missense_Mutation_p.E338Q|PPM1A_ENST00000325658.3_Missense_Mutation_p.E265Q	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	265					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TGATGACCTTGAGAAAGTTTG	0.348																																						uc010apn.2		NA																	0				skin(1)	1						c.(793-795)GAG>CAG		protein phosphatase 1A isoform 1							137.0	136.0	136.0					14																	60750214		2203	4300	6503	SO:0001583	missense	5494				cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr14:60750214G>C	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.793G>C	14.37:g.60750214G>C	ENSP00000378514:p.Glu265Gln					PPM1A_uc001xew.3_Missense_Mutation_p.E338Q|PPM1A_uc001xex.3_Missense_Mutation_p.E265Q|PPM1A_uc001xey.3_Missense_Mutation_p.E265Q	p.E265Q	NM_021003	NP_066283	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	3	1195	+			265					B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	c.793G>C	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110194	0.56398	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.69	5.69	0.88448	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.15305	0.0369	N	0.25245	0.725	0.80722	D	1	B;B;B	0.34313	0.26;0.241;0.448	B;B;B	0.33042	0.044;0.097;0.157	T	0.03597	-1.1021	10	0.45353	T	0.12	-5.239	19.8148	0.96562	0.0:0.0:1.0:0.0	.	265;265;265	P35813;P35813-2;B2R8E4	PPM1A_HUMAN;.;.	Q	338;265;265;265	ENSP00000327255:E338Q;ENSP00000432966:E265Q;ENSP00000378514:E265Q;ENSP00000314850:E265Q	ENSP00000327255:E338Q	E	+	1	0	PPM1A	59819967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.685000	0.91497	0.585000	0.79938	GAG		0.348	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003		8	86	0	0	0	0	8	86				
ESRRB	2103	broad.mit.edu	37	14	76966231	76966231	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:76966231C>G	ENST00000509242.1	+	9	1420	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C	ESRRB_ENST00000380887.2_Missense_Mutation_p.S441C|ESRRB_ENST00000261532.7_3'UTR|RP11-187O7.3_ENST00000554926.1_lincRNA	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	441					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTTAGAGGATCTCCCAAGGAT	0.512																																						uc001xsr.2		NA																	0				ovary(1)|skin(1)	2						c.(1321-1323)TCT>TGT		estrogen-related receptor beta							104.0	88.0	93.0					14																	76966231		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76966231C>G	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.1322C>G	14.37:g.76966231C>G	ENSP00000422488:p.Ser441Cys					ESRRB_uc001xso.2_RNA	p.S441C	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	10	1693	+			441					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.1322C>G	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	C	8.607	0.888248	0.17540	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000380887	D;D;D	0.93604	-3.25;-3.25;-3.25	3.22	1.26	0.21427	.	.	.	.	.	D	0.83119	0.5185	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.73084	-0.4094	9	0.59425	D	0.04	.	5.3525	0.16043	0.2029:0.4732:0.3239:0.0	.	441	Q5F0P7	.	C	446;441;441	ENSP00000424992:S446C;ENSP00000422488:S441C;ENSP00000370270:S441C	ENSP00000370270:S441C	S	+	2	0	ESRRB	76035984	0.000000	0.05858	0.001000	0.08648	0.142000	0.21351	0.232000	0.17891	0.314000	0.23086	0.650000	0.86243	TCT		0.512	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			6	53	0	0	0	0	6	53				
ASB2	51676	broad.mit.edu	37	14	94417555	94417555	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:94417555G>C	ENST00000315988.4	-	4	1014	c.526C>G	c.(526-528)Ctg>Gtg	p.L176V	ASB2_ENST00000555019.1_Missense_Mutation_p.L224V|MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	176					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGCTGCACCAGAATCTTCACG	0.622																																						uc001ycc.1		NA																	0				ovary(1)|pancreas(1)	2						c.(526-528)CTG>GTG		ankyrin repeat and SOCS box-containing protein							75.0	65.0	68.0					14																	94417555		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94417555G>C	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.526C>G	14.37:g.94417555G>C	ENSP00000320675:p.Leu176Val					ASB2_uc001ycd.2_Missense_Mutation_p.L224V|ASB2_uc001yce.1_Missense_Mutation_p.L122V	p.L176V	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	4	1015	-		all_cancers(154;0.13)	176			ANK 4.		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.526C>G	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060162	0.76074	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000556062	D;D;T;T	0.83673	-1.75;-1.75;-1.38;-1.27	5.62	3.76	0.43208	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	D	0.92831	0.7720	H	0.95850	3.73	0.49483	D	0.999799	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.974;0.998;0.974	D	0.93178	0.6572	10	0.87932	D	0	-59.0637	9.2897	0.37780	0.2245:0.0:0.7755:0.0	.	192;224;176	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	V	224;192;176;122;122;70	ENSP00000451575:L224V;ENSP00000320675:L176V;ENSP00000450940:L122V;ENSP00000451694:L70V	ENSP00000320675:L176V	L	-	1	2	ASB2	93487308	0.999000	0.42202	0.872000	0.34217	0.958000	0.62258	2.851000	0.48302	1.344000	0.45657	0.561000	0.74099	CTG		0.622	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			5	57	0	0	0	0	5	57				
DYNC1H1	1778	broad.mit.edu	37	14	102476268	102476268	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:102476268C>T	ENST00000360184.4	+	30	6230	c.6066C>T	c.(6064-6066)taC>taT	p.Y2022Y		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2022	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCCTGGCTACGCGGGCCGGT	0.552																																						uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(6064-6066)TAC>TAT		cytoplasmic dynein 1 heavy chain 1							57.0	54.0	55.0					14																	102476268		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102476268C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6066C>T	14.37:g.102476268C>T							p.Y2022Y	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			30	6230	+			2022			AAA 1 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.6066C>T	CCDS9966.1																																																																																				0.552	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		7	38	0	0	0	0	7	38				
HSP90AA1	3320	broad.mit.edu	37	14	102552205	102552205	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:102552205G>A	ENST00000216281.8	-	3	624	c.419C>T	c.(418-420)tCt>tTt	p.S140F	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.S262F|HSP90AA1_ENST00000441629.2_Intron	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	140					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	CAAATAAGCAGAATAAAAACC	0.473																																						uc001yku.3		NA																	0				ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(418-420)TCT>TTT		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						86.0	82.0	83.0					14																	102552205		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102552205G>A	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.419C>T	14.37:g.102552205G>A	ENSP00000216281:p.Ser140Phe					HSP90AA1_uc001ykv.3_Missense_Mutation_p.S262F|HSP90AA1_uc001ykw.1_Intron|HSP90AA1_uc001ykx.1_Missense_Mutation_p.S129F	p.S140F	NM_005348	NP_005339	P07900	HS90A_HUMAN			3	609	-			140					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.419C>T	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922606	0.73213	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.55413	0.52;0.52	3.99	3.99	0.46301	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	U	0.000000	D	0.86686	0.5992	H	0.99971	5.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93778	0.7081	10	0.72032	D	0.01	.	16.4396	0.83895	0.0:0.0:1.0:0.0	.	262;140	P07900-2;P07900	.;HS90A_HUMAN	F	140;262	ENSP00000216281:S140F;ENSP00000335153:S262F	ENSP00000216281:S140F	S	-	2	0	HSP90AA1	101621958	1.000000	0.71417	0.932000	0.37286	0.974000	0.67602	9.541000	0.98083	1.950000	0.56595	0.650000	0.86243	TCT		0.473	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		16	52	0	0	0	0	16	52				
NIPA2	81614	broad.mit.edu	37	15	23012399	23012399	+	Missense_Mutation	SNP	G	G	A	rs570724499		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr15:23012399G>A	ENST00000337451.3	-	7	940	c.328C>T	c.(328-330)Ctt>Ttt	p.L110F	NIPA2_ENST00000398014.2_Missense_Mutation_p.L110F|NIPA2_ENST00000398013.3_Missense_Mutation_p.L110F|NIPA2_ENST00000539711.2_Missense_Mutation_p.L91F|NIPA2_ENST00000359727.4_Missense_Mutation_p.L91F	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	110						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		TTCCCATGAAGATTAAGTCTT	0.333																																						uc001yux.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(328-330)CTT>TTT		non imprinted in Prader-Willi/Angelman syndrome							87.0	90.0	89.0					15																	23012399		2203	4299	6502	SO:0001583	missense	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23012399G>A	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.328C>T	15.37:g.23012399G>A	ENSP00000337618:p.Leu110Phe					NIPA2_uc001yuy.2_Missense_Mutation_p.L110F|NIPA2_uc001yuz.2_Missense_Mutation_p.L110F|NIPA2_uc001yva.2_Missense_Mutation_p.L91F|NIPA2_uc001yvb.2_Missense_Mutation_p.L110F|NIPA2_uc010ayb.2_Missense_Mutation_p.L91F	p.L110F	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	7	941	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	110			Helical; (Potential).		F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	c.328C>T	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005751	0.74932	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	T;T;T;D	0.94092	-0.55;-0.55;-0.55;-3.35	5.27	5.27	0.74061	.	0.062472	0.64402	D	0.000002	D	0.93736	0.7998	L	0.37697	1.125	0.80722	D	1	P;D	0.53151	0.863;0.958	P;P	0.60473	0.666;0.875	D	0.93409	0.6767	10	0.48119	T	0.1	-16.9607	14.4871	0.67624	0.0731:0.0:0.9269:0.0	.	91;110	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	F	110;110;91;110;91	ENSP00000337618:L110F;ENSP00000381096:L110F;ENSP00000352762:L91F;ENSP00000381095:L91F	ENSP00000337618:L110F	L	-	1	0	NIPA2	20563840	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.408000	0.73285	2.612000	0.88384	0.460000	0.39030	CTT		0.333	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		9	67	0	0	0	0	9	67				
RYR3	6263	broad.mit.edu	37	15	34131070	34131070	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr15:34131070G>A	ENST00000389232.4	+	89	12959	c.12889G>A	c.(12889-12891)Gaa>Aaa	p.E4297K	RYR3_ENST00000415757.3_Missense_Mutation_p.E4292K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4297					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCATGGGCCTGAAGTGGGTTT	0.458																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(12889-12891)GAA>AAA		ryanodine receptor 3							49.0	48.0	48.0					15																	34131070		1892	4116	6008	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34131070G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12889G>A	15.37:g.34131070G>A	ENSP00000373884:p.Glu4297Lys					RYR3_uc010bar.2_Missense_Mutation_p.E4292K	p.E4297K	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12959	+		all_lung(180;7.18e-09)	4297					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.12889G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190024	0.58017	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.93604	-3.25	4.95	4.03	0.46877	Ryanodine Receptor TM 4-6 (1);	0.129809	0.51477	D	0.000090	D	0.88862	0.6552	L	0.47716	1.5	0.35323	D	0.784968	B;B	0.22211	0.066;0.047	B;B	0.25987	0.022;0.065	D	0.85953	0.1465	10	0.22706	T	0.39	.	8.5303	0.33331	0.0819:0.1549:0.7632:0.0	.	4292;4297	Q15413-2;Q15413	.;RYR3_HUMAN	K	4297;4293	ENSP00000373884:E4297K	ENSP00000354735:E4293K	E	+	1	0	RYR3	31918362	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	6.258000	0.72487	2.298000	0.77334	0.655000	0.94253	GAA		0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	34	0	0	0	0	7	34				
SEMA6D	80031	broad.mit.edu	37	15	48056145	48056145	+	Silent	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr15:48056145G>C	ENST00000316364.5	+	10	1285	c.846G>C	c.(844-846)ctG>ctC	p.L282L	SEMA6D_ENST00000389433.2_Silent_p.L282L|SEMA6D_ENST00000537942.1_Silent_p.L282L|SEMA6D_ENST00000355997.3_Silent_p.L282L|SEMA6D_ENST00000389425.3_Silent_p.L282L|SEMA6D_ENST00000558816.1_Silent_p.L282L|SEMA6D_ENST00000558014.1_Silent_p.L282L|SEMA6D_ENST00000389428.3_Silent_p.L282L|SEMA6D_ENST00000358066.4_Silent_p.L282L|SEMA6D_ENST00000536845.2_Silent_p.L282L|SEMA6D_ENST00000354744.4_Silent_p.L282L|SEMA6D_ENST00000389432.2_Silent_p.L282L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	282	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGGCTCGGCTGAACTGTTCTG	0.488																																						uc010bek.2		NA																	0				skin(3)|breast(1)	4						c.(844-846)CTG>CTC		semaphorin 6D isoform 4 precursor							151.0	135.0	140.0					15																	48056145		2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056145G>C	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.846G>C	15.37:g.48056145G>C						SEMA6D_uc001zvw.2_Silent_p.L282L|SEMA6D_uc001zvx.1_Silent_p.L282L|SEMA6D_uc001zvy.2_Silent_p.L282L|SEMA6D_uc001zvz.2_Silent_p.L282L|SEMA6D_uc001zwa.2_Silent_p.L282L|SEMA6D_uc001zwb.2_Silent_p.L282L|SEMA6D_uc001zwc.2_Silent_p.L282L	p.L282L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	10	1206	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	282			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.846G>C	CCDS32225.1																																																																																				0.488	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		11	86	0	0	0	0	11	86				
TICRR	90381	broad.mit.edu	37	15	90167507	90167507	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr15:90167507G>C	ENST00000268138.7	+	20	4071	c.3966G>C	c.(3964-3966)aaG>aaC	p.K1322N	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.K1321N			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1322	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TCTCCAAGAAGAGTCCATTTA	0.463																																						uc002boe.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(3964-3966)AAG>AAC		leucine-rich repeat kinase 1							122.0	122.0	122.0					15																	90167507		2200	4299	6499	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90167507G>C	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3966G>C	15.37:g.90167507G>C	ENSP00000268138:p.Lys1322Asn					C15orf42_uc010upv.1_RNA	p.K1322N	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		20	3966	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1322			Pro-rich.		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.3966G>C	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415482	0.25552	.	.	ENSG00000140534	ENST00000268138	T	0.10573	2.86	3.98	0.946	0.19549	.	1.123640	0.06877	U	0.801734	T	0.05960	0.0155	N	0.19112	0.55	0.09310	N	1	P	0.40731	0.728	B	0.38803	0.282	T	0.27938	-1.0059	10	0.17832	T	0.49	-0.1381	1.7843	0.03038	0.2603:0.1916:0.4254:0.1227	.	1322	Q7Z2Z1	TICRR_HUMAN	N	1322	ENSP00000268138:K1322N	ENSP00000268138:K1322N	K	+	3	2	C15orf42	87968511	0.008000	0.16893	0.000000	0.03702	0.213000	0.24496	0.680000	0.25306	-0.032000	0.13758	0.591000	0.81541	AAG		0.463	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		10	128	0	0	0	0	10	128				
HS3ST6	64711	broad.mit.edu	37	16	1962054	1962054	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:1962054G>A	ENST00000293937.3	-	2	565	c.566C>T	c.(565-567)tCc>tTc	p.S189F	HS3ST6_ENST00000454677.2_Missense_Mutation_p.S206F|HS3ST6_ENST00000443547.1_Missense_Mutation_p.S158F			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	189					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						GGCGTAGTCGGAGATGGCCCG	0.716																																						uc002cnf.2		NA																	0					0						c.(472-474)TCC>TTC		heparan sulfate (glucosamine)							18.0	22.0	21.0					16																	1962054		2193	4297	6490	SO:0001583	missense	64711							g.chr16:1962054G>A			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"""Sulfotransferases, membrane-bound"""	14178	protein-coding gene	gene with protein product			"""heparan sulfate (glucosamine) 3-O-sulfotransferase 5"""	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.566C>T	16.37:g.1962054G>A	ENSP00000293937:p.Ser189Phe						p.S158F	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN			2	473	-			158					Q96RX7	Missense_Mutation	SNP	ENST00000293937.3	37	c.473C>T		.	.	.	.	.	.	.	.	.	.	g	27.0	4.792763	0.90453	.	.	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	D;D	0.98280	-4.84;-4.84	4.83	4.83	0.62350	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.99447	0.9804	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98027	1.0374	10	0.87932	D	0	.	16.9711	0.86300	0.0:0.0:1.0:0.0	.	189	Q96QI5	HS3S6_HUMAN	F	189;158;228	ENSP00000293937:S189F;ENSP00000390354:S158F	ENSP00000293937:S189F	S	-	2	0	HS3ST6	1902055	1.000000	0.71417	0.964000	0.40570	0.954000	0.61252	9.605000	0.98321	2.248000	0.74166	0.500000	0.49745	TCC		0.716	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		5	31	0	0	0	0	5	31				
KIAA0556	23247	broad.mit.edu	37	16	27751533	27751533	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:27751533G>C	ENST00000261588.4	+	15	1934	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	639						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCACTCGGAAGAAAGCAAAGG	0.562																																						uc002dow.2		NA																	0				ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(1915-1917)GAA>CAA		hypothetical protein LOC23247							73.0	69.0	70.0					16																	27751533		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27751533G>C	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1915G>C	16.37:g.27751533G>C	ENSP00000261588:p.Glu639Gln						p.E639Q	NM_015202	NP_056017	O60303	K0556_HUMAN			15	1939	+			639			Potential.		A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.1915G>C	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900463	0.52227	.	.	ENSG00000047578	ENST00000261588	T	0.11821	2.74	4.97	4.97	0.65823	.	0.328071	0.33290	N	0.005069	T	0.26738	0.0654	M	0.64997	1.995	0.09310	N	1	D	0.57257	0.979	P	0.52957	0.714	T	0.05818	-1.0862	10	0.45353	T	0.12	-0.4132	16.0554	0.80798	0.0:0.0:1.0:0.0	.	639	O60303	K0556_HUMAN	Q	639	ENSP00000261588:E639Q	ENSP00000261588:E639Q	E	+	1	0	KIAA0556	27659034	0.021000	0.18746	0.007000	0.13788	0.002000	0.02628	2.137000	0.42130	2.308000	0.77769	0.655000	0.94253	GAA		0.562	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		7	59	0	0	0	0	7	59				
SRCAP	10847	broad.mit.edu	37	16	30749246	30749246	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:30749246G>A	ENST00000262518.4	+	34	8270	c.7885G>A	c.(7885-7887)Gag>Aag	p.E2629K	SRCAP_ENST00000395059.2_Missense_Mutation_p.E2567K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E2471K|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2629	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGATTCTGCTGAGGGGACCAC	0.582																																						uc002dze.1		NA																	0				ovary(3)|skin(1)	4						c.(7885-7887)GAG>AAG		Snf2-related CBP activator protein							80.0	68.0	72.0					16																	30749246		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749246G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7885G>A	16.37:g.30749246G>A	ENSP00000262518:p.Glu2629Lys					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E2424K	p.E2629K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	8270	+			2629			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.7885G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	7.822	0.717994	0.15372	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92965	-3.11;-3.14;-3.13	4.88	1.67	0.24075	.	0.428733	0.19684	N	0.108444	D	0.82309	0.5009	N	0.08118	0	0.22435	N	0.999106	B;B	0.28760	0.221;0.037	B;B	0.27796	0.083;0.021	T	0.71912	-0.4449	10	0.48119	T	0.1	-2.6127	12.8915	0.58073	0.0:0.5453:0.4547:0.0	.	2567;2629	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	K	2629;2567;2471	ENSP00000262518:E2629K;ENSP00000378499:E2567K;ENSP00000343042:E2471K	ENSP00000262518:E2629K	E	+	1	0	SRCAP	30656747	0.933000	0.31639	0.539000	0.28077	0.479000	0.33129	1.373000	0.34272	0.215000	0.20761	0.467000	0.42956	GAG		0.582	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		16	80	0	0	0	0	16	80				
ZNF423	23090	broad.mit.edu	37	16	49672763	49672763	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:49672763G>A	ENST00000561648.1	-	4	353	c.300C>T	c.(298-300)ctC>ctT	p.L100L	ZNF423_ENST00000562520.1_Silent_p.L40L|ZNF423_ENST00000262383.2_Silent_p.L100L|ZNF423_ENST00000563137.2_Silent_p.L40L|ZNF423_ENST00000567169.1_5'UTR|ZNF423_ENST00000562871.1_Silent_p.L40L|ZNF423_ENST00000535559.1_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	100					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCACCCAGGAGAGTTGTGGGT	0.587																																						uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(298-300)CTC>CTT		zinc finger protein 423							51.0	47.0	48.0					16																	49672763		2198	4300	6498	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672763G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.300C>T	16.37:g.49672763G>A						ZNF423_uc010vgn.1_5'UTR	p.L100L	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	598	-		all_cancers(37;0.0155)	100					O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.300C>T	CCDS32445.1																																																																																				0.587	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		6	45	0	0	0	0	6	45				
TK2	7084	broad.mit.edu	37	16	66562953	66562953	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:66562953C>T	ENST00000451102.2	-	6	743	c.393G>A	c.(391-393)ttG>ttA	p.L131L	TK2_ENST00000527800.1_Silent_p.L34L|TK2_ENST00000527284.1_Silent_p.L100L|TK2_ENST00000417693.3_Silent_p.L113L|TK2_ENST00000563369.2_Silent_p.L34L|TK2_ENST00000544898.1_Silent_p.L82L|TK2_ENST00000564917.1_Silent_p.L131L|TK2_ENST00000299697.7_Silent_p.L173L|TK2_ENST00000525974.1_Silent_p.L34L|TK2_ENST00000545043.2_Silent_p.L106L			O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	131					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|DNA replication (GO:0006260)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|thymidine kinase activity (GO:0004797)			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		ACCTCTCCATCAACCGTACAG	0.393																																						uc002eos.2		NA																	0					0						c.(517-519)TTG>TTA		thymidine kinase 2, mitochondrial							115.0	115.0	115.0					16																	66562953		2201	4300	6501	SO:0001819	synonymous_variant	7084				pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity	g.chr16:66562953C>T		CCDS10805.1, CCDS10805.2, CCDS54016.1, CCDS54017.1, CCDS54018.1, CCDS61955.1	16q22-q23.1	2012-10-02			ENSG00000166548	ENSG00000166548	2.7.1.21		11831	protein-coding gene	gene with protein product		188250					Standard	NM_004614		Approved		uc002eos.3	O00142	OTTHUMG00000137499	ENST00000451102.2:c.393G>A	16.37:g.66562953C>T						TK2_uc010vip.1_Silent_p.L34L|TK2_uc002eor.2_Silent_p.L100L|TK2_uc010cdq.2_Silent_p.L100L|TK2_uc010cdr.2_Silent_p.L82L|TK2_uc010viq.1_Silent_p.L155L|TK2_uc010vir.1_Silent_p.L148L	p.L173L	NM_004614	NP_004605	O00142	KITM_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)	6	744	-		Ovarian(137;0.0563)	131					B4DGJ7|B4DZK7|B7ZAB1|E9PH08|O15238	Silent	SNP	ENST00000451102.2	37	c.519G>A	CCDS10805.2																																																																																				0.393	TK2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268806.4			16	76	0	0	0	0	16	76				
ZFHX3	463	broad.mit.edu	37	16	72984803	72984803	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:72984803C>T	ENST00000268489.5	-	3	3453	c.2781G>A	c.(2779-2781)ctG>ctA	p.L927L	ZFHX3_ENST00000397992.5_Silent_p.L13L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	927					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCAGGTTCATCAGCTCCTCTG	0.617																																						uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(2779-2781)CTG>CTA		zinc finger homeobox 3 isoform A							66.0	59.0	62.0					16																	72984803		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72984803C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2781G>A	16.37:g.72984803C>T						ZFHX3_uc002fcl.2_Silent_p.L13L	p.L927L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			3	3454	-		Ovarian(137;0.13)	927					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.2781G>A	CCDS10908.1																																																																																				0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		10	58	0	0	0	0	10	58				
ALOX15	246	broad.mit.edu	37	17	4535217	4535217	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:4535217G>A	ENST00000570836.1	-	14	1872	c.1776C>T	c.(1774-1776)atC>atT	p.I592I	ALOX15_ENST00000574640.1_Silent_p.I553I|ALOX15_ENST00000545513.1_Silent_p.I614I|ALOX15_ENST00000293761.3_Silent_p.I592I			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	592	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		GCTGCCAAGTGATGGACATCT	0.627																																						uc002fyh.2		NA																	0				skin(3)|ovary(1)|lung(1)	5						c.(1774-1776)ATC>ATT		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						56.0	59.0	58.0					17																	4535217		2203	4300	6503	SO:0001819	synonymous_variant	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4535217G>A	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1776C>T	17.37:g.4535217G>A						ALOX15_uc010vsd.1_Silent_p.I553I|ALOX15_uc010vse.1_Silent_p.I614I	p.I592I	NM_001140	NP_001131	P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	13	1790	-			592			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	c.1776C>T	CCDS11049.1																																																																																				0.627	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			4	47	0	0	0	0	4	47				
CCDC144A	9720	broad.mit.edu	37	17	16594003	16594003	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:16594003G>C	ENST00000360524.8	+	1	365	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	CCDC144A_ENST00000340621.5_Missense_Mutation_p.E97Q|CCDC144A_ENST00000443444.2_Missense_Mutation_p.E97Q|CCDC144A_ENST00000436374.1_3'UTR|RNU6-405P_ENST00000516637.1_RNA|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E97Q|CCDC144A_ENST00000456009.1_Missense_Mutation_p.E97Q|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E97Q	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	97																	CCCTGGGGTGGAGCACATCTT	0.647																																						uc002gqk.1		NA																	0					0						c.(289-291)GAG>CAG		coiled-coil domain containing 144A							120.0	129.0	126.0					17																	16594003		2203	4300	6503	SO:0001583	missense	9720							g.chr17:16594003G>C	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.289G>C	17.37:g.16594003G>C	ENSP00000353717:p.Glu97Gln						p.E97Q	NM_014695	NP_055510	A2RUR9	C144A_HUMAN			1	365	+			97					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.289G>C	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	10.30	1.313029	0.23908	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000399264;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94	0.542	-1.08	0.09936	.	.	.	.	.	T	0.17746	0.0426	L	0.29908	0.895	0.09310	N	1	P	0.51653	0.947	P	0.53490	0.727	T	0.16217	-1.0410	8	0.10111	T	0.7	.	.	.	.	.	97	A2RUR9	C144A_HUMAN	Q	97	ENSP00000344740:E97Q;ENSP00000382215:E97Q;ENSP00000439262:E97Q;ENSP00000440655:E97Q;ENSP00000353717:E97Q;ENSP00000394201:E97Q;ENSP00000353685:E97Q	ENSP00000344740:E97Q	E	+	1	0	CCDC144A	16534728	0.170000	0.23016	0.006000	0.13384	0.003000	0.03518	0.782000	0.26788	-0.455000	0.07054	-0.746000	0.03513	GAG		0.647	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			69	197	0	0	0	0	69	197				
KRT13	3860	broad.mit.edu	37	17	39659616	39659616	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:39659616G>A	ENST00000246635.3	-	3	704	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L	KRT13_ENST00000587118.1_5'Flank|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Silent_p.L220L|KRT13_ENST00000336861.3_Silent_p.L220L	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	220	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GTCTTAGACAGAGTGAGCTCA	0.527																																						uc002hwu.1		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(658-660)CTG>TTG		keratin 13 isoform a							102.0	100.0	101.0					17																	39659616		2203	4300	6503	SO:0001819	synonymous_variant	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659616G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.658C>T	17.37:g.39659616G>A						KRT13_uc002hwv.1_Silent_p.L220L|KRT13_uc002hww.2_Silent_p.L113L|KRT13_uc010wfr.1_Silent_p.L113L|KRT13_uc010cxo.2_Silent_p.L220L|KRT13_uc002hwx.1_Silent_p.L208L	p.L220L	NM_153490	NP_705694	P13646	K1C13_HUMAN			3	721	-		Breast(137;0.000286)	220			Coil 1B.|Rod.		Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	37	c.658C>T	CCDS11396.1																																																																																				0.527	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		20	111	0	0	0	0	20	111				
WNT3	7473	broad.mit.edu	37	17	44895960	44895960	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:44895960C>G	ENST00000225512.5	-	1	166	c.4G>C	c.(4-6)Gag>Cag	p.E2Q		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	2					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGGTGGGGCTCCATTAGAAGA	0.602																																						uc002ikv.2		NA																	0				lung(2)	2						c.(4-6)GAG>CAG		wingless-type MMTV integration site family,							17.0	18.0	17.0					17																	44895960		2187	4292	6479	SO:0001583	missense	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44895960C>G	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.4G>C	17.37:g.44895960C>G	ENSP00000225512:p.Glu2Gln						p.E2Q	NM_030753	NP_110380	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		1	123	-			2					Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	c.4G>C	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658302	0.29425	.	.	ENSG00000108379	ENST00000225512	T	0.76060	-0.99	4.34	4.34	0.51931	.	7.452280	0.00357	N	0.000033	T	0.62816	0.2459	N	0.08118	0	0.29746	N	0.836743	B	0.13594	0.008	B	0.11329	0.006	T	0.47315	-0.9127	10	0.30078	T	0.28	.	14.7867	0.69808	0.0:1.0:0.0:0.0	.	2	P56703	WNT3_HUMAN	Q	2	ENSP00000225512:E2Q	ENSP00000225512:E2Q	E	-	1	0	WNT3	42250959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.710000	0.61873	2.245000	0.73994	0.561000	0.74099	GAG		0.602	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		2	9	0	0	0	0	2	9				
CSHL1	1444	broad.mit.edu	37	17	61988231	61988231	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:61988231G>C	ENST00000309894.5	-	2	63	c.64C>G	c.(64-66)Caa>Gaa	p.Q22E	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000392824.4_Missense_Mutation_p.Q22E|CSHL1_ENST00000259003.10_Missense_Mutation_p.Q22E	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	22						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						CCAGCCTCTTGAAGCCAGGGC	0.612																																						uc002jda.1		NA																	0					0						c.(64-66)CAA>GAA		chorionic somatomammotropin hormone-like 1							39.0	42.0	41.0					17																	61988231		2202	4297	6499	SO:0001583	missense	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61988231G>C	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.64C>G	17.37:g.61988231G>C	ENSP00000309524:p.Gln22Glu					CSHL1_uc002jcz.1_Missense_Mutation_p.Q22E|CSHL1_uc002jdb.1_Intron|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Missense_Mutation_p.Q22E|CSHL1_uc002jde.2_Missense_Mutation_p.Q50E|CSHL1_uc002jdf.2_Intron|CSHL1_uc002jdg.2_Missense_Mutation_p.Q22E|CSHL1_uc002jdh.2_Intron	p.Q22E	NM_022579	NP_072101	Q14406	CSHL_HUMAN			2	126	-			22					D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	c.64C>G	CCDS11652.1	.	.	.	.	.	.	.	.	.	.	g	9.876	1.200319	0.22121	.	.	ENSG00000204414	ENST00000309894;ENST00000259003;ENST00000450719;ENST00000392824	D;D;D	0.88201	-2.35;-1.92;-2.35	2.95	0.755	0.18415	.	0.691568	0.14275	N	0.329908	D	0.90786	0.7107	M	0.89214	3.015	0.09310	N	1	P;B;B	0.48407	0.91;0.287;0.243	P;B;B	0.50934	0.654;0.411;0.287	T	0.82902	-0.0227	10	0.66056	D	0.02	.	3.4982	0.07662	0.1436:0.0:0.6099:0.2465	.	22;22;22	B7Z6E9;Q14406;Q14406-2	.;CSHL_HUMAN;.	E	22	ENSP00000309524:Q22E;ENSP00000259003:Q22E;ENSP00000376569:Q22E	ENSP00000259003:Q22E	Q	-	1	0	GH1	59341963	0.582000	0.26749	0.097000	0.21041	0.009000	0.06853	1.448000	0.35112	0.090000	0.17273	0.305000	0.20034	CAA		0.612	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		5	57	0	0	0	0	5	57				
COG1	9382	broad.mit.edu	37	17	71189326	71189326	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:71189326G>C	ENST00000299886.4	+	1	198	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	40					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GGTTCGGGCCGAGATCGAGCA	0.687																																						uc002jjg.2		NA																	0				ovary(1)	1						c.(118-120)GAG>CAG		component of oligomeric golgi complex 1							27.0	29.0	28.0					17																	71189326		2199	4297	6496	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71189326G>C		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.118G>C	17.37:g.71189326G>C	ENSP00000299886:p.Glu40Gln					COG1_uc002jjh.2_Missense_Mutation_p.E40Q|COG1_uc002jjf.1_Missense_Mutation_p.E40Q	p.E40Q	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		1	154	+			40					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.118G>C	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466389	0.63625	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.29917	1.55;1.56	3.74	3.74	0.42951	.	0.127006	0.51477	D	0.000082	T	0.47210	0.1433	L	0.47716	1.5	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.975;1.0	D;P;D	0.74023	0.982;0.86;0.982	T	0.41998	-0.9477	10	0.38643	T	0.18	-22.6634	16.0763	0.80971	0.0:0.0:1.0:0.0	.	40;40;40	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	Q	40	ENSP00000400111:E40Q;ENSP00000299886:E40Q	ENSP00000299886:E40Q	E	+	1	0	COG1	68700921	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.658000	0.83755	2.075000	0.62263	0.484000	0.47621	GAG		0.687	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			5	17	0	0	0	0	5	17				
C17orf77	146723	broad.mit.edu	37	17	72588192	72588192	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:72588192G>A	ENST00000392620.1	+	3	369	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	C17orf77_ENST00000328023.2_Missense_Mutation_p.E3K|CD300LD_ENST00000375352.1_Intron	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	3						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ATGGATGGATGAATTGGCGCT	0.443																																						uc002jla.1		NA																	0					0						c.(7-9)GAA>AAA		hypothetical protein LOC146723							104.0	107.0	106.0					17																	72588192		2203	4300	6503	SO:0001583	missense	146723					extracellular region		g.chr17:72588192G>A		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.7G>A	17.37:g.72588192G>A	ENSP00000376396:p.Glu3Lys					CD300LD_uc002jkz.2_Intron	p.E3K	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN			3	369	+			3						Missense_Mutation	SNP	ENST00000392620.1	37	c.7G>A	CCDS32721.1	.	.	.	.	.	.	.	.	.	.	G	8.304	0.820564	0.16678	.	.	ENSG00000182352	ENST00000524389;ENST00000392620;ENST00000328023	T;T	0.54279	0.58;0.58	2.95	1.97	0.26223	.	.	.	.	.	T	0.39682	0.1087	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	P	0.52758	0.708	T	0.16928	-1.0386	9	0.87932	D	0	.	5.6533	0.17629	0.1531:0.0:0.8469:0.0	.	3	Q96MU5	CQ077_HUMAN	K	3	ENSP00000376396:E3K;ENSP00000329353:E3K	ENSP00000329353:E3K	E	+	1	0	C17orf77	70099787	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-0.268000	0.08607	0.808000	0.34231	0.609000	0.83330	GAA		0.443	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		19	139	0	0	0	0	19	139				
HGS	9146	broad.mit.edu	37	17	79663007	79663007	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:79663007C>T	ENST00000329138.4	+	15	1506	c.1371C>T	c.(1369-1371)ctC>ctT	p.L457L		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	457	Interaction with SNAP25 and TRAK2. {ECO:0000250}.|Interaction with SNX1. {ECO:0000250}.|Interaction with STAM1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TGGAGCTGCTCAACCAGCTGG	0.672																																						uc002kbg.2		NA																	0				ovary(1)	1						c.(1369-1371)CTC>CTT		hepatocyte growth factor-regulated tyrosine							45.0	38.0	40.0					17																	79663007		2203	4300	6503	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79663007C>T	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1371C>T	17.37:g.79663007C>T							p.L457L	NM_004712	NP_004703	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		15	1448	+	all_neural(118;0.0878)|all_lung(278;0.23)		457			Interaction with STAM1 (By similarity).|Interaction with SNAP25 and TRAK2 (By similarity).|Interaction with SNX1 (By similarity).		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.1371C>T	CCDS11784.1																																																																																				0.672	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		4	49	0	0	0	0	4	49				
ASXL3	80816	broad.mit.edu	37	18	31318686	31318686	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr18:31318686G>A	ENST00000269197.5	+	11	1318	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	440					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATTGGAGTCAGAGGATATCTT	0.413																																						uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1318-1320)GAG>AAG		additional sex combs like 3							78.0	79.0	78.0					18																	31318686		1880	4108	5988	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31318686G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1318G>A	18.37:g.31318686G>A	ENSP00000269197:p.Glu440Lys					ASXL3_uc002kxq.2_Missense_Mutation_p.E147K	p.E440K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	1373	+			440					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.1318G>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820147	0.71028	.	.	ENSG00000141431	ENST00000269197	T	0.19105	2.17	5.2	5.2	0.72013	.	0.789213	0.11771	N	0.531085	T	0.32941	0.0846	M	0.61703	1.905	0.46774	D	0.999198	P	0.50443	0.935	P	0.45753	0.492	T	0.15578	-1.0432	10	0.40728	T	0.16	.	19.115	0.93334	0.0:0.0:1.0:0.0	.	440	Q9C0F0	ASXL3_HUMAN	K	440	ENSP00000269197:E440K	ENSP00000269197:E440K	E	+	1	0	ASXL3	29572684	1.000000	0.71417	0.971000	0.41717	0.910000	0.53928	5.771000	0.68881	2.580000	0.87095	0.467000	0.42956	GAG		0.413	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			13	49	0	0	0	0	13	49				
TCF4	6925	broad.mit.edu	37	18	52928732	52928732	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr18:52928732G>T	ENST00000356073.4	-	12	1566	c.955C>A	c.(955-957)Cag>Aag	p.Q319K	TCF4_ENST00000543082.1_Missense_Mutation_p.Q277K|TCF4_ENST00000564228.1_Missense_Mutation_p.Q248K|TCF4_ENST00000566279.1_Missense_Mutation_p.Q259K|TCF4_ENST00000570287.2_Missense_Mutation_p.Q159K|TCF4_ENST00000566286.1_Missense_Mutation_p.Q317K|TCF4_ENST00000537856.3_Missense_Mutation_p.Q189K|TCF4_ENST00000398339.1_Missense_Mutation_p.Q421K|TCF4_ENST00000567880.1_Missense_Mutation_p.Q259K|TCF4_ENST00000544241.2_Missense_Mutation_p.Q248K|TCF4_ENST00000568740.1_Missense_Mutation_p.Q294K|TCF4_ENST00000561992.1_Missense_Mutation_p.Q189K|TCF4_ENST00000564403.2_Missense_Mutation_p.Q325K|TCF4_ENST00000564999.1_Missense_Mutation_p.Q319K|TCF4_ENST00000568673.1_Missense_Mutation_p.Q295K|TCF4_ENST00000537578.1_Missense_Mutation_p.Q295K|TCF4_ENST00000457482.3_Missense_Mutation_p.Q159K|TCF4_ENST00000565018.2_Missense_Mutation_p.Q319K|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000354452.3_Missense_Mutation_p.Q319K|TCF4_ENST00000540999.1_Missense_Mutation_p.Q295K|TCF4_ENST00000570177.2_Missense_Mutation_p.Q189K|TCF4_ENST00000561831.3_Missense_Mutation_p.Q159K	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	319					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCTCCAGTCTGGGAGCTGCCG	0.458																																						uc002lfz.2		NA																	0				ovary(1)|lung(1)	2						c.(955-957)CAG>AAG		transcription factor 4 isoform b							160.0	180.0	174.0					18																	52928732		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52928732G>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.955C>A	18.37:g.52928732G>T	ENSP00000348374:p.Gln319Lys					TCF4_uc002lfw.3_Missense_Mutation_p.Q159K|TCF4_uc010xdu.1_Missense_Mutation_p.Q189K|TCF4_uc010xdv.1_Missense_Mutation_p.Q189K|TCF4_uc002lfx.2_Missense_Mutation_p.Q248K|TCF4_uc010xdw.1_Missense_Mutation_p.Q189K|TCF4_uc002lfy.2_Missense_Mutation_p.Q277K|TCF4_uc010xdx.1_Missense_Mutation_p.Q295K|TCF4_uc010dph.1_Missense_Mutation_p.Q319K|TCF4_uc010xdy.1_Missense_Mutation_p.Q295K|TCF4_uc002lga.2_Missense_Mutation_p.Q421K|TCF4_uc002lgb.1_Missense_Mutation_p.Q159K|TCF4_uc010dpi.2_Missense_Mutation_p.Q325K|TCF4_uc002lfv.2_Missense_Mutation_p.Q103K	p.Q319K	NM_003199	NP_003190	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	12	1567	-			319					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.955C>A	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098512	0.94197	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.69006	0.3063	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.998;0.999;0.997;0.991;0.982;0.998;0.998;0.99;0.988	D;D;D;D;P;D;D;P;P	0.85130	0.993;0.997;0.992;0.983;0.766;0.993;0.993;0.882;0.761	T	0.71133	-0.4681	10	0.87932	D	0	-11.205	19.2296	0.93833	0.0:0.0:1.0:0.0	.	295;319;159;421;319;277;248;159;317	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	K	319;159;319;277;295;295;248;189;421	ENSP00000346440:Q319K;ENSP00000409447:Q159K;ENSP00000348374:Q319K;ENSP00000439656:Q277K;ENSP00000445202:Q295K;ENSP00000440731:Q295K;ENSP00000441562:Q248K;ENSP00000439827:Q189K;ENSP00000381382:Q421K	ENSP00000346440:Q319K	Q	-	1	0	TCF4	51079730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.069000	0.93967	2.835000	0.97688	0.650000	0.86243	CAG		0.458	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		43	227	1	0	8.17e-37	9.14e-37	43	227				
MALT1	10892	broad.mit.edu	37	18	56402442	56402442	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr18:56402442G>C	ENST00000348428.3	+	13	1742	c.1484G>C	c.(1483-1485)gGa>gCa	p.G495A	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.G484A	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	495	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						aggtGTCAAGGAGCAGAAGCT	0.323			T	BIRC3	MALT																																	uc002lhm.1		NA		Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1483-1485)GGA>GCA		mucosa associated lymphoid tissue lymphoma							34.0	38.0	37.0					18																	56402442		2199	4297	6496	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56402442G>C		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1484G>C	18.37:g.56402442G>C	ENSP00000319279:p.Gly495Ala					MALT1_uc002lhn.1_Missense_Mutation_p.G484A	p.G495A	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN			13	1742	+			495			Caspase-like.		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.1484G>C	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088160	0.76642	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.56611	0.45;0.45	5.45	5.45	0.79879	Peptidase C14, caspase catalytic (1);	0.049472	0.85682	D	0.000000	T	0.69405	0.3107	M	0.74389	2.26	0.51012	D	0.999903	D;D	0.61080	0.986;0.989	P;P	0.57548	0.729;0.823	T	0.73279	-0.4033	10	0.72032	D	0.01	.	18.0567	0.89365	0.0:0.0:1.0:0.0	.	484;495	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	A	495;484	ENSP00000319279:G495A;ENSP00000304161:G484A	ENSP00000304161:G484A	G	+	2	0	MALT1	54553422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.025000	0.76449	2.559000	0.86315	0.585000	0.79938	GGA		0.323	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			4	22	0	0	0	0	4	22				
C3	718	broad.mit.edu	37	19	6697749	6697749	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:6697749G>A	ENST00000245907.6	-	20	2589	c.2497C>T	c.(2497-2499)Ctg>Ttg	p.L833L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	833					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GGTAGCCGCAGGTCGATGAAG	0.567																																						uc002mfm.2		NA																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(2497-2499)CTG>TTG		complement component 3 precursor							48.0	44.0	45.0					19																	6697749		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697749G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2497C>T	19.37:g.6697749G>A							p.L833L	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	20	2559	-			833					A7E236	Silent	SNP	ENST00000245907.6	37	c.2497C>T	CCDS32883.1																																																																																				0.567	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		3	33	0	0	0	0	3	33				
FBN3	84467	broad.mit.edu	37	19	8137035	8137035	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:8137035G>A	ENST00000600128.1	-	63	8399	c.7985C>T	c.(7984-7986)cCg>cTg	p.P2662L	FBN3_ENST00000601739.1_Missense_Mutation_p.P2662L|FBN3_ENST00000270509.2_Missense_Mutation_p.P2662L			Q75N90	FBN3_HUMAN	fibrillin 3	2662						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTCTTTGTCCGGGGTGTCCTG	0.662																																						uc002mjf.2		NA																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(7984-7986)CCG>CTG		fibrillin 3 precursor							120.0	125.0	124.0					19																	8137035		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8137035G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7985C>T	19.37:g.8137035G>A	ENSP00000470498:p.Pro2662Leu					FBN3_uc002mje.2_Missense_Mutation_p.P458L	p.P2662L	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			62	8006	-			2662					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.7985C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	11.24	1.579362	0.28180	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.87103	-2.21	4.75	-2.71	0.05986	.	0.448742	0.19758	N	0.106727	T	0.73666	0.3616	L	0.40543	1.245	0.09310	N	1	B;B	0.19583	0.021;0.037	B;B	0.12156	0.005;0.007	T	0.56673	-0.7940	10	0.27082	T	0.32	.	2.3704	0.04329	0.166:0.0946:0.3729:0.3666	.	2662;725	Q75N90;Q6ZNB8	FBN3_HUMAN;.	L	2662;725	ENSP00000270509:P2662L	ENSP00000270509:P2662L	P	-	2	0	FBN3	8043035	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.121000	0.10643	-0.137000	0.11455	-0.970000	0.02610	CCG		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		29	172	0	0	0	0	29	172				
ANGPTL6	83854	broad.mit.edu	37	19	10204163	10204163	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:10204163C>T	ENST00000253109.4	-	5	1322	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	ANGPTL6_ENST00000589181.1_Missense_Mutation_p.D322N|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.D362N	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	362	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GAGAAGCCATCATAGTGGGCA	0.622																																						uc002mmx.1		NA																	0					0						c.(1084-1086)GAT>AAT		angiopoietin-like 6 precursor							64.0	53.0	57.0					19																	10204163		2203	4300	6503	SO:0001583	missense	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10204163C>T	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.1084G>A	19.37:g.10204163C>T	ENSP00000253109:p.Asp362Asn					ANGPTL6_uc002mmy.1_Missense_Mutation_p.D362N	p.D362N	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		5	1202	-			362			Fibrinogen C-terminal.		A5PKV7|Q9BZZ0	Missense_Mutation	SNP	ENST00000253109.4	37	c.1084G>A	CCDS12224.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401464	0.62288	.	.	ENSG00000130812	ENST00000253109	D	0.81499	-1.5	4.47	4.47	0.54385	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.86041	0.5838	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.86420	0.1754	10	0.49607	T	0.09	.	16.1183	0.81324	0.0:1.0:0.0:0.0	.	362	Q8NI99	ANGL6_HUMAN	N	362	ENSP00000253109:D362N	ENSP00000253109:D362N	D	-	1	0	ANGPTL6	10065163	0.987000	0.35691	0.890000	0.34922	0.805000	0.45488	4.769000	0.62300	2.360000	0.80028	0.485000	0.47835	GAT		0.622	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		12	58	0	0	0	0	12	58				
ZGLP1	100125288	broad.mit.edu	37	19	10415872	10415872	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:10415872G>A	ENST00000403903.3	-	4	1909	c.711C>T	c.(709-711)taC>taT	p.Y237Y	ZGLP1_ENST00000403352.1_Silent_p.Y153Y	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	237					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						AGCGAGTGCCGTATTTCTTGT	0.562																																						uc002mnw.3		NA																	0				ovary(1)	1						c.(709-711)TAC>TAT		GATA like protein-1							52.0	53.0	53.0					19																	10415872		1967	4162	6129	SO:0001819	synonymous_variant	100125288				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:10415872G>A	AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"""GATA zinc finger domain containing"""	37245	protein-coding gene	gene with protein product	"""GATA like protein 1"", ""GATA zinc finger domain containing 3"""	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.711C>T	19.37:g.10415872G>A							p.Y237Y	NM_001103167	NP_001096637	P0C6A0	ZGLP1_HUMAN			4	1587	-			237						Silent	SNP	ENST00000403903.3	37	c.711C>T	CCDS45959.1																																																																																				0.562	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325278.1	NM_001103167		8	46	0	0	0	0	8	46				
ELOF1	84337	broad.mit.edu	37	19	11665079	11665079	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:11665079G>A	ENST00000252445.3	-	2	147	c.84C>T	c.(82-84)ttC>ttT	p.F28F	ELOF1_ENST00000589171.1_Silent_p.F28F|ELOF1_ENST00000591674.1_Silent_p.F35F|ELOF1_ENST00000586683.1_Silent_p.F28F|ELOF1_ENST00000590700.1_Silent_p.F28F|ELOF1_ENST00000591912.1_Silent_p.F28F|ELOF1_ENST00000587806.1_Silent_p.F49F|ELOF1_ENST00000586120.1_Silent_p.F28F	NM_032377.3	NP_115753.1	P60002	ELOF1_HUMAN	elongation factor 1 homolog (S. cerevisiae)	28					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(3)|lung(2)	5						CGTGGTTGCAGAAGGGGCAGG	0.572																																						uc002mse.1		NA																	0					0						c.(82-84)TTC>TTT		elongation factor 1 homolog (ELF1, S.							224.0	181.0	195.0					19																	11665079		2203	4300	6503	SO:0001819	synonymous_variant	84337				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr19:11665079G>A	AK001171	CCDS12264.1	19p13.2	2008-02-05	2006-02-13			ENSG00000130165			28691	protein-coding gene	gene with protein product			"""elongation factor 1 homolog (ELF1, S. cerevisiae)"""			12477932	Standard	NM_032377		Approved	MGC4549, ELF1	uc002mse.1	P60002		ENST00000252445.3:c.84C>T	19.37:g.11665079G>A						ELOF1_uc002msd.1_Silent_p.F49F	p.F28F	NM_032377	NP_115753	P60002	ELOF1_HUMAN			2	148	-			28					Q8R1J7|Q96II4	Silent	SNP	ENST00000252445.3	37	c.84C>T	CCDS12264.1																																																																																				0.572	ELOF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458868.1	NM_032377		14	114	0	0	0	0	14	114				
EMR2	30817	broad.mit.edu	37	19	14884783	14884783	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:14884783C>T	ENST00000315576.3	-	4	617	c.166G>A	c.(166-168)Gag>Aag	p.E56K	EMR2_ENST00000353876.1_Missense_Mutation_p.E56K|EMR2_ENST00000392967.2_Missense_Mutation_p.E56K|EMR2_ENST00000346057.1_Missense_Mutation_p.E56K|EMR2_ENST00000601345.1_Missense_Mutation_p.E56K|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000392964.3_5'Flank|EMR2_ENST00000594294.1_Missense_Mutation_p.E56K|EMR2_ENST00000594076.1_Missense_Mutation_p.E56K|EMR2_ENST00000595839.1_Missense_Mutation_p.E56K|EMR2_ENST00000353005.1_Missense_Mutation_p.E56K|EMR2_ENST00000392965.3_Missense_Mutation_p.E56K|EMR2_ENST00000596991.2_Missense_Mutation_p.E56K	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	56	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTGATGATCTCAGAAAAAGAG	0.602																																						uc002mzp.1		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(166-168)GAG>AAG		egf-like module containing, mucin-like, hormone							135.0	125.0	129.0					19																	14884783		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14884783C>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.166G>A	19.37:g.14884783C>T	ENSP00000319883:p.Glu56Lys					EMR2_uc010xnw.1_Missense_Mutation_p.E56K|EMR2_uc002mzo.1_Missense_Mutation_p.E56K|EMR2_uc002mzq.1_Missense_Mutation_p.E56K|EMR2_uc002mzr.1_Missense_Mutation_p.E56K|EMR2_uc002mzs.1_Missense_Mutation_p.E56K|EMR2_uc002mzt.1_Missense_Mutation_p.E56K|EMR2_uc002mzu.1_Missense_Mutation_p.E56K|EMR2_uc010xnx.1_5'Flank|EMR2_uc010xny.1_RNA	p.E56K	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			4	622	-			56			Extracellular (Potential).|EGF-like 1.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.166G>A	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642077	0.47153	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000360222;ENST00000392965;ENST00000392962	T;T;T;T;T;T;D	0.87334	-0.89;-1.02;-0.42;0.35;1.13;-1.19;-2.24	3.64	2.59	0.31030	.	.	.	.	.	T	0.78773	0.4336	L	0.47716	1.5	0.09310	N	1	B;B;B;B;B;B;B	0.28850	0.196;0.001;0.065;0.225;0.027;0.04;0.067	B;B;B;B;B;B;B	0.26094	0.034;0.004;0.01;0.066;0.022;0.008;0.018	T	0.61227	-0.7105	9	0.08381	T	0.77	.	7.5884	0.28006	0.0:0.8721:0.0:0.1279	.	56;56;56;56;56;56;56	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	K	56	ENSP00000319883:E56K;ENSP00000376694:E56K;ENSP00000263380:E56K;ENSP00000319454:E56K;ENSP00000319838:E56K;ENSP00000376692:E56K;ENSP00000376689:E56K	ENSP00000319883:E56K	E	-	1	0	EMR2	14745783	0.001000	0.12720	0.007000	0.13788	0.030000	0.12068	0.917000	0.28665	0.831000	0.34780	0.398000	0.26397	GAG		0.602	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			29	109	0	0	0	0	29	109				
F2RL3	9002	broad.mit.edu	37	19	17000712	17000712	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:17000712G>C	ENST00000248076.3	+	2	768	c.438G>C	c.(436-438)gaG>gaC	p.E146D	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	146					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCTTCGGGGAGGCCGCCTGCC	0.706																																						uc002nfa.2		NA																	0					0						c.(436-438)GAG>GAC		coagulation factor II (thrombin) receptor-like 3							6.0	7.0	7.0					19																	17000712		2073	4028	6101	SO:0001583	missense	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17000712G>C	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.438G>C	19.37:g.17000712G>C	ENSP00000248076:p.Glu146Asp						p.E146D	NM_003950	NP_003941	Q96RI0	PAR4_HUMAN			2	613	+			146			Extracellular (Potential).		O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.438G>C	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492682	0.44352	.	.	ENSG00000127533	ENST00000248076	T	0.72051	-0.62	4.3	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.75459	0.3852	L	0.45744	1.44	0.36416	D	0.864028	D	0.71674	0.998	D	0.81914	0.995	T	0.76756	-0.2842	10	0.42905	T	0.14	.	7.9739	0.30143	0.2158:0.0:0.7842:0.0	.	146	Q96RI0	PAR4_HUMAN	D	146	ENSP00000248076:E146D	ENSP00000248076:E146D	E	+	3	2	F2RL3	16861712	1.000000	0.71417	0.270000	0.24601	0.089000	0.18198	2.326000	0.43849	0.802000	0.34089	0.491000	0.48974	GAG		0.706	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			3	11	0	0	0	0	3	11				
ZNF599	148103	broad.mit.edu	37	19	35251156	35251156	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:35251156G>C	ENST00000329285.8	-	4	923	c.550C>G	c.(550-552)Caa>Gaa	p.Q184E		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CCTGGTCCTTGAGAGTCACAC	0.473																																						uc010edn.1		NA																	0				ovary(1)|skin(1)	2						c.(550-552)CAA>GAA		zinc finger protein 599							167.0	147.0	154.0					19																	35251156		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251156G>C	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.550C>G	19.37:g.35251156G>C	ENSP00000333802:p.Gln184Glu					ZNF599_uc010edm.1_Missense_Mutation_p.Q147E	p.Q184E	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	938	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		184					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.550C>G	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.360209	0.01245	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.21361	2.01	2.75	0.446	0.16602	.	.	.	.	.	T	0.13586	0.0329	L	0.36672	1.1	0.09310	N	0.999998	B	0.15141	0.012	B	0.15052	0.012	T	0.33675	-0.9859	9	0.66056	D	0.02	.	1.2984	0.02074	0.138:0.2216:0.4144:0.2259	.	184	Q96NL3	ZN599_HUMAN	E	183;184	ENSP00000333802:Q184E	ENSP00000333802:Q184E	Q	-	1	0	ZNF599	39942996	0.001000	0.12720	0.004000	0.12327	0.041000	0.13682	0.313000	0.19415	0.192000	0.20272	0.491000	0.48974	CAA		0.473	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		7	127	0	0	0	0	7	127				
LGI4	163175	broad.mit.edu	37	19	35616221	35616221	+	Missense_Mutation	SNP	G	G	A	rs372879627		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:35616221G>A	ENST00000310123.3	-	9	2009	c.1490C>T	c.(1489-1491)cCg>cTg	p.P497L	LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	497					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CACCAGGGCCGGAGGCCCCAG	0.642																																						uc002nxx.2		NA																	0				pancreas(1)	1						c.(1489-1491)CCG>CTG		leucine-rich repeat LGI family, member 4		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	30.0	35.0	33.0		1490	5.2	1.0	19		33	1,8599	1.2+/-3.3	0,1,4299	no	missense	LGI4	NM_139284.2	98	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	497/538	35616221	2,13004	2203	4300	6503	SO:0001583	missense	163175					extracellular region		g.chr19:35616221G>A	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1490C>T	19.37:g.35616221G>A	ENSP00000312273:p.Pro497Leu					LGI4_uc002nxy.1_Missense_Mutation_p.P325L|LGI4_uc002nxz.1_3'UTR	p.P497L	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		9	2084	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		497					B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	c.1490C>T	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329022	0.60743	2.27E-4	1.16E-4	ENSG00000153902	ENST00000310123;ENST00000437421	T	0.62639	0.01	5.15	5.15	0.70609	.	0.000000	0.56097	D	0.000029	T	0.69351	0.3101	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71852	-0.4467	10	0.87932	D	0	.	11.257	0.49060	0.0:0.0:0.8173:0.1827	.	497	Q8N135	LGI4_HUMAN	L	497;498	ENSP00000312273:P497L	ENSP00000312273:P497L	P	-	2	0	LGI4	40308061	0.998000	0.40836	0.995000	0.50966	0.401000	0.30781	4.396000	0.59684	2.404000	0.81709	0.484000	0.47621	CCG		0.642	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			10	51	0	0	0	0	10	51				
CYP2B6	1555	broad.mit.edu	37	19	41522664	41522664	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:41522664C>G	ENST00000324071.4	+	9	1415	c.1408C>G	c.(1408-1410)Ctg>Gtg	p.L470V	CYP2B6_ENST00000330446.5_Missense_Mutation_p.L270V|CYP2B6_ENST00000593831.1_Missense_Mutation_p.L234V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	470					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	AGACATCGATCTGACACCCCA	0.582																																						uc002opr.1		NA																	0				ovary(1)|skin(1)	2						c.(1408-1410)CTG>GTG		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						69.0	54.0	59.0					19																	41522664		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41522664C>G	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.1408C>G	19.37:g.41522664C>G	ENSP00000324648:p.Leu470Val					CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.L270V	p.L470V	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		9	1415	+			470					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.1408C>G	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.411944	0.25465	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.68331	5.0;-0.32	4.52	-0.536	0.11876	.	0.076904	0.51477	U	0.000096	T	0.55401	0.1918	L	0.48218	1.51	0.23930	N	0.99643	B;P	0.51791	0.014;0.948	B;P	0.49708	0.018;0.62	T	0.49698	-0.8912	10	0.17369	T	0.5	.	3.1791	0.06578	0.4257:0.3462:0.1404:0.0877	.	270;470	B4DWP3;P20813	.;CP2B6_HUMAN	V	470;270	ENSP00000324648:L470V;ENSP00000330650:L270V	ENSP00000324648:L470V	L	+	1	2	CYP2B6	46214504	0.002000	0.14202	0.350000	0.25708	0.001000	0.01503	-0.545000	0.06069	0.151000	0.19162	-0.535000	0.04281	CTG		0.582	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		7	24	0	0	0	0	7	24				
POU2F2	5452	broad.mit.edu	37	19	42600050	42600050	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:42600050T>C	ENST00000526816.2	-	9	710	c.695A>G	c.(694-696)tAc>tGc	p.Y232C	POU2F2_ENST00000529952.1_Missense_Mutation_p.Y232C|POU2F2_ENST00000560398.1_Missense_Mutation_p.Y238C|POU2F2_ENST00000560558.1_Missense_Mutation_p.Y177C|POU2F2_ENST00000529067.1_Missense_Mutation_p.Y216C|POU2F2_ENST00000389341.5_Missense_Mutation_p.Y216C|POU2F2_ENST00000533720.1_Missense_Mutation_p.Y216C|POU2F2_ENST00000342301.4_Missense_Mutation_p.Y232C			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	232	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	GTCGTTGCCGTAGAGCTTGCC	0.652																																						uc002osp.2		NA																	0				ovary(1)|skin(1)	2						c.(694-696)TAC>TGC		POU domain, class 2, transcription factor 2							106.0	107.0	107.0					19																	42600050		2203	4300	6503	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42600050T>C		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.695A>G	19.37:g.42600050T>C	ENSP00000431603:p.Tyr232Cys					POU2F2_uc002osn.2_Missense_Mutation_p.Y216C|POU2F2_uc002oso.2_Missense_Mutation_p.Y5C|POU2F2_uc002osq.2_Missense_Mutation_p.Y216C|POU2F2_uc002osr.1_Missense_Mutation_p.Y232C	p.Y232C	NM_002698	NP_002689	P09086	PO2F2_HUMAN			9	762	-		Prostate(69;0.059)	232			POU-specific.		Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.695A>G	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345000	0.82022	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	4.38	4.38	0.52667	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.92080	0.7490	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.93134	0.6535	10	0.87932	D	0	.	13.004	0.58692	0.0:0.0:0.0:1.0	.	216;232;216	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	C	216;232;232;216;231;216;232	ENSP00000373992:Y216C;ENSP00000339369:Y232C;ENSP00000437221:Y216C;ENSP00000437224:Y216C;ENSP00000436988:Y232C	ENSP00000292077:Y232C	Y	-	2	0	POU2F2	47291890	1.000000	0.71417	0.922000	0.36590	0.997000	0.91878	7.819000	0.86621	1.978000	0.57642	0.454000	0.30748	TAC		0.652	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			22	105	0	0	0	0	22	105				
TRPM4	54795	broad.mit.edu	37	19	49692319	49692319	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:49692319C>T	ENST00000252826.5	+	14	2116	c.1990C>T	c.(1990-1992)Cgt>Tgt	p.R664C	TRPM4_ENST00000355712.5_Missense_Mutation_p.R310C|TRPM4_ENST00000427978.2_Missense_Mutation_p.R664C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	664					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AGCTGACGCCCGTGCCTTCTT	0.622																																						uc002pmw.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1990-1992)CGT>TGT		transient receptor potential cation channel,							61.0	64.0	63.0					19																	49692319		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49692319C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1990C>T	19.37:g.49692319C>T	ENSP00000252826:p.Arg664Cys					TRPM4_uc010emu.2_Missense_Mutation_p.R664C|TRPM4_uc010yak.1_Missense_Mutation_p.R128C|TRPM4_uc002pmx.2_Missense_Mutation_p.R490C|TRPM4_uc010emv.2_Missense_Mutation_p.R549C|TRPM4_uc010yal.1_Missense_Mutation_p.R310C|TRPM4_uc002pmy.2_Missense_Mutation_p.R6C	p.R664C	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	14	2062	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	664			Cytoplasmic (Potential).		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.1990C>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	c	18.84	3.708467	0.68615	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.70516	-0.49;-0.49;-0.49	4.32	3.21	0.36854	.	0.420734	0.21920	N	0.067171	T	0.81083	0.4749	M	0.68952	2.095	0.46356	D	0.999005	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.982;0.992;0.992;0.973	D	0.83371	0.0007	10	0.87932	D	0	-2.8028	13.0914	0.59169	0.1601:0.8399:0.0:0.0	.	310;490;664;664	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	C	664;664;310	ENSP00000252826:R664C;ENSP00000407492:R664C;ENSP00000347944:R310C	ENSP00000252826:R664C	R	+	1	0	TRPM4	54384131	0.156000	0.22821	0.998000	0.56505	0.698000	0.40448	0.971000	0.29396	2.156000	0.67533	0.455000	0.32223	CGT		0.622	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		25	108	0	0	0	0	25	108				
RCN3	57333	broad.mit.edu	37	19	50042435	50042435	+	Splice_Site	SNP	C	C	T	rs151007768	byFrequency	TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:50042435C>T	ENST00000270645.3	+	5	1125	c.678C>T	c.(676-678)atC>atT	p.I226I		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	226	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		AGGAGTACATCGGTGAGTGGG	0.577																																						uc002poj.2		NA																	0				ovary(1)	1						c.(676-678)ATC>ATT		reticulocalbin 3, EF-hand calcium binding domain							111.0	97.0	102.0					19																	50042435		2203	4300	6503	SO:0001630	splice_region_variant	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50042435C>T	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.679+1C>T	19.37:g.50042435C>T							p.I226I	NM_020650	NP_065701	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	5	1125	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	226			EF-hand 4.		Q9HBZ8	Silent	SNP	ENST00000270645.3	37	c.678C>T	CCDS12771.1																																																																																				0.577	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650	Silent	7	53	0	0	0	0	7	53				
NLRP7	199713	broad.mit.edu	37	19	55450689	55450689	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:55450689C>T	ENST00000590030.1	-	3	1538	c.1498G>A	c.(1498-1500)Gta>Ata	p.V500I	NLRP7_ENST00000592784.1_Missense_Mutation_p.V500I|NLRP7_ENST00000446217.1_Missense_Mutation_p.V528I|NLRP7_ENST00000328092.5_Missense_Mutation_p.V500I|NLRP7_ENST00000340844.2_Missense_Mutation_p.V500I|NLRP7_ENST00000448121.2_Missense_Mutation_p.V500I|NLRP7_ENST00000588756.1_Missense_Mutation_p.V500I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	500							ATP binding (GO:0005524)	p.V500I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGCTTCTGTACGTCCCCGATG	0.567																																						uc002qih.3		NA																	1	Substitution - Missense(1)		breast(1)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1498-1500)GTA>ATA		NACHT, leucine rich repeat and PYD containing 7							77.0	75.0	75.0					19																	55450689		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55450689C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1498G>A	19.37:g.55450689C>T	ENSP00000465520:p.Val500Ile					NLRP7_uc002qig.3_Missense_Mutation_p.V500I|NLRP7_uc002qii.3_Missense_Mutation_p.V500I|NLRP7_uc010esk.2_Missense_Mutation_p.V500I|NLRP7_uc010esl.2_Missense_Mutation_p.V528I	p.V500I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1574	-			500					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1498G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	9.442	1.088378	0.20390	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.74421	-0.74;-0.74;-0.84;-0.81	1.92	-1.53	0.08611	.	1.476590	0.05128	N	0.492136	T	0.69097	0.3073	L	0.43923	1.385	0.09310	N	1	B;B;B;D	0.53312	0.164;0.056;0.056;0.959	B;B;B;P	0.49528	0.024;0.016;0.016;0.614	T	0.57751	-0.7757	10	0.25751	T	0.34	.	5.0147	0.14330	0.0:0.4744:0.0:0.5256	.	528;500;500;500	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	I	500;500;500;528;267	ENSP00000329568:V500I;ENSP00000409137:V500I;ENSP00000339491:V500I;ENSP00000414273:V528I	ENSP00000329568:V500I	V	-	1	0	NLRP7	60142501	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.654000	0.05354	-0.325000	0.08577	-0.369000	0.07265	GTA		0.567	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		11	72	0	0	0	0	11	72				
ZNF417	147687	broad.mit.edu	37	19	58420667	58420667	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:58420667T>C	ENST00000312026.5	-	3	1143	c.979A>G	c.(979-981)Aga>Gga	p.R327G	ZNF417_ENST00000595559.1_Missense_Mutation_p.R326G|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Missense_Mutation_p.R128G	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CCATATTCTCTACACTCATAA	0.463																																						uc002qqq.2		NA																	0					0						c.(979-981)AGA>GGA		zinc finger protein 417							201.0	164.0	176.0					19																	58420667		2203	4300	6503	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420667T>C	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.979A>G	19.37:g.58420667T>C	ENSP00000311319:p.Arg327Gly					ZNF417_uc010yhm.1_Missense_Mutation_p.R284G|ZNF417_uc002qqr.2_Missense_Mutation_p.R326G	p.R327G	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1178	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	327			C2H2-type 5; degenerate.		B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.979A>G	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	1.068	-0.670686	0.03403	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.17691	2.26;2.26	2.21	-4.43	0.03568	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	N	0.03029	-0.43	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36768	-0.9734	9	0.20519	T	0.43	.	7.3399	0.26632	0.0:0.4339:0.2929:0.2732	.	327;327	F5H0M9;Q8TAU3	.;ZN417_HUMAN	G	327;128	ENSP00000311319:R327G;ENSP00000442760:R128G	ENSP00000311319:R327G	R	-	1	2	ZNF417	63112479	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-6.860000	0.00051	-2.600000	0.00451	-0.762000	0.03455	AGA		0.463	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		12	257	0	0	0	0	12	257				
TMEM178A	130733	broad.mit.edu	37	2	39893244	39893244	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:39893244G>C	ENST00000281961.2	+	1	186	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	AC007246.3_ENST00000415640.1_RNA|TMEM178A_ENST00000482239.1_Intron	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	44						integral component of membrane (GO:0016021)											GGAGAGCTGCGAGCGCAGCCG	0.741																																						uc002rrt.2		NA																	0					0						c.(130-132)GAG>CAG		transmembrane protein 178 precursor							6.0	8.0	7.0					2																	39893244		1920	4060	5980	SO:0001583	missense	130733					integral to membrane		g.chr2:39893244G>C	BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.130G>C	2.37:g.39893244G>C	ENSP00000281961:p.Glu44Gln					TMEM178_uc010fam.1_Missense_Mutation_p.E44Q	p.E44Q	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN			1	155	+		all_hematologic(82;0.248)	44			Extracellular (Potential).		Q6UWI6|Q8N6N4	Missense_Mutation	SNP	ENST00000281961.2	37	c.130G>C	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790174	0.50102	.	.	ENSG00000152154	ENST00000281961;ENST00000378734	T	0.44083	0.93	3.19	3.19	0.36642	.	0.194717	0.42053	D	0.000776	T	0.33990	0.0882	N	0.22421	0.69	0.37432	D	0.914075	P;P	0.45594	0.862;0.854	B;P	0.47626	0.084;0.552	T	0.25641	-1.0126	9	.	.	.	-7.7647	11.949	0.52944	0.0:0.0:1.0:0.0	.	44;44	Q8NBL3-2;Q8NBL3	.;TM178_HUMAN	Q	44	ENSP00000281961:E44Q	.	E	+	1	0	TMEM178	39746748	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	2.464000	0.45067	1.655000	0.50712	0.298000	0.19748	GAG		0.741	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390		5	24	0	0	0	0	5	24				
CCDC88A	55704	broad.mit.edu	37	2	55546086	55546086	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:55546086C>G	ENST00000436346.1	-	19	4058	c.3217G>C	c.(3217-3219)Gag>Cag	p.E1073Q	CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1072Q|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1072Q|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1073Q|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000608103.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1073					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTCTGTGTCTCAAGTTGCTTC	0.383																																						uc002ryv.2		NA																	0				ovary(2)|skin(2)	4						c.(3214-3216)GAG>CAG		coiled-coil domain containing 88A isoform 1							166.0	151.0	156.0					2																	55546086		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55546086C>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3217G>C	2.37:g.55546086C>G	ENSP00000410608:p.Glu1073Gln					CCDC88A_uc010yoz.1_Missense_Mutation_p.E1073Q|CCDC88A_uc010ypa.1_Missense_Mutation_p.E1072Q|CCDC88A_uc002ryu.2_Missense_Mutation_p.E355Q|CCDC88A_uc002rys.2_Missense_Mutation_p.E58Q|CCDC88A_uc002ryw.2_Missense_Mutation_p.E356Q|CCDC88A_uc010fby.1_5'UTR	p.E1072Q	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			19	4056	-			1073			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.3214G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.382597|4.382597	0.82792|0.82792	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000456975	T;T;T;D;T;T|.	0.86297|.	2.38;2.61;2.59;-2.1;2.39;1.36|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.48286|.	U|.	0.000186|.	T|.	0.71846|.	0.3388|.	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P;D;P;P;P|.	0.76494|.	0.942;0.999;0.942;0.812;0.778|.	P;D;P;P;P|.	0.81914|.	0.749;0.995;0.685;0.58;0.6|.	T|.	0.68300|.	-0.5445|.	10|.	0.40728|.	T|.	0.16|.	-13.5973|-13.5973	19.3048|19.3048	0.94157|0.94157	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1072;1073;1073;1072;1072|.	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.	.;.;GRDN_HUMAN;.;.|.	Q|S	1072;1073;1073;118;1072;248|53	ENSP00000338728:E1072Q;ENSP00000263630:E1073Q;ENSP00000410608:E1073Q;ENSP00000390012:E118Q;ENSP00000404431:E1072Q;ENSP00000405080:E248Q|.	ENSP00000263630:E1073Q|.	E|X	-|-	1|2	0|2	CCDC88A|CCDC88A	55399590|55399590	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	5.935000|5.935000	0.70145|0.70145	2.567000|2.567000	0.86603|0.86603	0.650000|0.650000	0.86243|0.86243	GAG|TGA		0.383	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		4	53	0	0	0	0	4	53				
RGPD4	285190	broad.mit.edu	37	2	108487257	108487257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:108487257C>T	ENST00000408999.3	+	20	2874	c.2797C>T	c.(2797-2799)Caa>Taa	p.Q933*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.Q933*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	933					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACCAGGAAATCAAGAAAAGGA	0.413																																						uc010ywk.1		NA																	0				skin(2)	2						c.(2797-2799)CAA>TAA		RANBP2-like and GRIP domain containing 4							167.0	130.0	142.0					2																	108487257		692	1586	2278	SO:0001587	stop_gained	285190				intracellular transport		binding	g.chr2:108487257C>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2797C>T	2.37:g.108487257C>T	ENSP00000386810:p.Gln933*					RGPD4_uc002tdu.2_Nonsense_Mutation_p.Q120*|RGPD4_uc010ywl.1_RNA	p.Q933*	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			20	2879	+			933					B9A029	Nonsense_Mutation	SNP	ENST00000408999.3	37	c.2797C>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	24.8	4.574558	0.86542	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	.	.	.	2.33	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-21.4348	4.8868	0.13706	0.2385:0.5274:0.234:0.0	.	.	.	.	X	933;933;691	.	ENSP00000347081:Q933X	Q	+	1	0	RGPD4	107853689	0.000000	0.05858	0.975000	0.42487	0.269000	0.26545	0.008000	0.13197	1.303000	0.44873	0.162000	0.16502	CAA		0.413	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		54	258	0	0	0	0	54	258				
GALNT3	2591	broad.mit.edu	37	2	166615260	166615260	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:166615260G>A	ENST00000392701.3	-	6	1963	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	GALNT3_ENST00000409882.1_Silent_p.F134F	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	396	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AACTTACTCTGAAAGACATTT	0.308																																						uc010fph.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1186-1188)TTC>TTT		polypeptide N-acetylgalactosaminyltransferase 3							57.0	67.0	64.0					2																	166615260		2199	4281	6480	SO:0001819	synonymous_variant	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166615260G>A		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1188C>T	2.37:g.166615260G>A						GALNT3_uc010fpi.1_Silent_p.F396F	p.F396F	NM_004482	NP_004473	Q14435	GALT3_HUMAN			6	1575	-			396			Catalytic subdomain B.|Lumenal (Potential).		Q53TG9|Q7Z476	Silent	SNP	ENST00000392701.3	37	c.1188C>T	CCDS2226.1																																																																																				0.308	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		8	54	0	0	0	0	8	54				
STK39	27347	broad.mit.edu	37	2	169023849	169023849	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:169023849G>A	ENST00000355999.4	-	3	1095	c.390C>T	c.(388-390)gtC>gtT	p.V130V		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	130	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						GTTCATCTTTGACCACAAAAG	0.378																																						uc002uea.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(388-390)GTC>GTT		serine threonine kinase 39 (STE20/SPS1 homolog,							107.0	100.0	103.0					2																	169023849		1948	4160	6108	SO:0001819	synonymous_variant	27347				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity	g.chr2:169023849G>A	AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.390C>T	2.37:g.169023849G>A							p.V130V	NM_013233	NP_037365	Q9UEW8	STK39_HUMAN			3	550	-			130			Protein kinase.		O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Silent	SNP	ENST00000355999.4	37	c.390C>T	CCDS42770.1																																																																																				0.378	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258112.2	NM_013233		4	37	0	0	0	0	4	37				
LRP2	4036	broad.mit.edu	37	2	170101261	170101261	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:170101261C>T	ENST00000263816.3	-	22	3657	c.3372G>A	c.(3370-3372)aaG>aaA	p.K1124K	LRP2_ENST00000443831.1_Silent_p.K987K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1124	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGACCCAGTTCTTTGAGATAC	0.493																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(3370-3372)AAG>AAA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						194.0	165.0	175.0					2																	170101261		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170101261C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3372G>A	2.37:g.170101261C>T						LRP2_uc010zdf.1_Silent_p.K987K	p.K1124K	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	22	3585	-			1124			LDL-receptor class A 10.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.3372G>A	CCDS2232.1																																																																																				0.493	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		20	114	0	0	0	0	20	114				
WIPF1	7456	broad.mit.edu	37	2	175432655	175432655	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:175432655C>G	ENST00000392547.2	-	6	1375	c.1276G>C	c.(1276-1278)Ggg>Cgg	p.G426R	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000359761.3_Missense_Mutation_p.G426R|WIPF1_ENST00000392546.2_Missense_Mutation_p.G426R|WIPF1_ENST00000272746.5_Missense_Mutation_p.G426R|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.G426R	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	426	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGAGGTGCCCCAGCACTGGGC	0.602																																						uc002uiy.2		NA																	0				ovary(1)|skin(1)	2						c.(1276-1278)GGG>CGG		WAS/WASL interacting protein family, member 1							64.0	68.0	66.0					2																	175432655		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175432655C>G	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1276G>C	2.37:g.175432655C>G	ENSP00000376330:p.Gly426Arg					uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.G426R|WIPF1_uc010fqt.1_Missense_Mutation_p.G426R|WIPF1_uc002uiz.2_Missense_Mutation_p.G426R|WIPF1_uc002ujb.1_Missense_Mutation_p.G426R	p.G426R	NM_003387	NP_003378	O43516	WIPF1_HUMAN			7	1608	-			426			Pro-rich.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.1276G>C	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162432	0.78226	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891	T;T;T;T;T	0.50813	1.1;1.09;1.1;1.1;0.73	5.49	5.49	0.81192	.	0.108384	0.64402	D	0.000006	T	0.70885	0.3275	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.992	T	0.72603	-0.4243	10	0.66056	D	0.02	.	19.7433	0.96241	0.0:1.0:0.0:0.0	.	426;426;426	O43516-3;O43516-2;O43516	.;.;WIPF1_HUMAN	R	426;282;426;426;426;426	ENSP00000376330:G426R;ENSP00000272746:G426R;ENSP00000352802:G426R;ENSP00000376329:G426R;ENSP00000386431:G426R	ENSP00000272746:G426R	G	-	1	0	WIPF1	175140901	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.962000	0.70364	2.733000	0.93635	0.655000	0.94253	GGG		0.602	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		10	64	0	0	0	0	10	64				
TTN	7273	broad.mit.edu	37	2	179414566	179414566	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:179414566C>T	ENST00000591111.1	-	288	87184	c.86960G>A	c.(86959-86961)aGa>aAa	p.R28987K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R21688K|TTN_ENST00000460472.2_Missense_Mutation_p.R21563K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28060K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R30628K|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R21755K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28987	Fibronectin type-III 111. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			ATTGGTGAATCTTATTGGCCC	0.403																																						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.(84178-84180)AGA>AAA		titin isoform N2-A							120.0	112.0	114.0					2																	179414566		1848	4095	5943	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414566C>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.86960G>A	2.37:g.179414566C>T	ENSP00000465570:p.Arg28987Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R21755K|TTN_uc010zfi.1_Missense_Mutation_p.R21688K|TTN_uc010zfj.1_Missense_Mutation_p.R21563K	p.R28060K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		287	84403	-			28987					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.84179G>A		.	.	.	.	.	.	.	.	.	.	C	19.38	3.816015	0.70912	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.48	5.48	0.80851	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55737	0.1939	N	0.05012	-0.13	0.46749	D	0.999186	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.79108	0.992;0.992;0.992;0.992	T	0.67538	-0.5645	9	0.87932	D	0	.	19.7173	0.96127	0.0:1.0:0.0:0.0	.	21563;21688;21755;28987	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	28060;21563;21755;21688;21560	ENSP00000343764:R28060K;ENSP00000434586:R21563K;ENSP00000340554:R21755K;ENSP00000352154:R21688K	ENSP00000340554:R21755K	R	-	2	0	TTN	179122812	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.854000	0.62918	2.724000	0.93272	0.563000	0.77884	AGA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	109	0	0	0	0	5	109				
AOX1	316	broad.mit.edu	37	2	201534448	201534448	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:201534448G>A	ENST00000374700.2	+	34	4190	c.3949G>A	c.(3949-3951)Gac>Aac	p.D1317N	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1317					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGCCTGTGAAGACAAGTTCAC	0.448																																						uc002uvx.2		NA																	0		p.D1317V(1)		ovary(4)|pancreas(1)|skin(1)	6						c.(3949-3951)GAC>AAC		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						117.0	114.0	115.0					2																	201534448		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201534448G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3949G>A	2.37:g.201534448G>A	ENSP00000363832:p.Asp1317Asn					AOX1_uc010zhf.1_Missense_Mutation_p.D873N|AOX1_uc010fsu.2_Missense_Mutation_p.D683N	p.D1317N	NM_001159	NP_001150	Q06278	ADO_HUMAN			34	4050	+			1317					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3949G>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394580	0.83011	.	.	ENSG00000138356	ENST00000374700;ENST00000260930;ENST00000439380	T;T;T	0.74947	-0.89;-0.89;-0.89	5.51	5.51	0.81932	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.433911	0.26525	N	0.023900	D	0.89136	0.6629	M	0.91612	3.225	0.47778	D	0.999515	D	0.69078	0.997	D	0.71414	0.973	D	0.90694	0.4615	10	0.72032	D	0.01	-70.7461	18.3504	0.90336	0.0:0.0:1.0:0.0	.	1317	Q06278	ADO_HUMAN	N	1317;181;157	ENSP00000363832:D1317N;ENSP00000260930:D181N;ENSP00000413326:D157N	ENSP00000260930:D181N	D	+	1	0	AOX1	201242693	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.896000	0.56266	2.868000	0.98415	0.557000	0.71058	GAC		0.448	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		17	114	0	0	0	0	17	114				
PNKD	25953	broad.mit.edu	37	2	219204763	219204763	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:219204763C>A	ENST00000273077.4	+	4	415	c.364C>A	c.(364-366)Ctt>Att	p.L122I	PNKD_ENST00000436005.2_Missense_Mutation_p.L62I|PNKD_ENST00000258362.3_Missense_Mutation_p.L98I|AC021016.8_ENST00000411433.1_RNA	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	122					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTGAAGGTGCTTCCCATCCC	0.652																																						uc002vhn.2		NA																	0					0						c.(364-366)CTT>ATT		myofibrillogenesis regulator 1 isoform 1							82.0	64.0	70.0					2																	219204763		2203	4300	6503	SO:0001583	missense	25953					membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr2:219204763C>A		CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.364C>A	2.37:g.219204763C>A	ENSP00000273077:p.Leu122Ile					PNKD_uc002vhq.2_Missense_Mutation_p.L98I	p.L122I	NM_015488	NP_056303	Q8N490	PNKD_HUMAN		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	508	+		Renal(207;0.0474)	122					A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Missense_Mutation	SNP	ENST00000273077.4	37	c.364C>A	CCDS2411.1	.	.	.	.	.	.	.	.	.	.	C	9.731	1.162268	0.21538	.	.	ENSG00000127838	ENST00000273077;ENST00000258362;ENST00000436005	D;D;D	0.95342	-3.68;-3.68;-3.68	4.98	4.98	0.66077	.	0.141475	0.47852	D	0.000205	D	0.85999	0.5828	N	0.04508	-0.205	0.35267	D	0.780078	B;B	0.23990	0.095;0.057	B;B	0.21151	0.033;0.027	D	0.85954	0.1466	10	0.33141	T	0.24	-7.4903	13.6075	0.62056	0.0:0.8443:0.1557:0.0	.	98;122	Q8N490-3;Q8N490	.;PNKD_HUMAN	I	122;98;62	ENSP00000273077:L122I;ENSP00000258362:L98I;ENSP00000414400:L62I	ENSP00000258362:L98I	L	+	1	0	PNKD	218913007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.824000	0.48088	2.295000	0.77249	0.561000	0.74099	CTT		0.652	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2			13	63	1	0	0.000151284	0.000162691	13	63				
EPHA4	2043	broad.mit.edu	37	2	222298867	222298867	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:222298867G>A	ENST00000281821.2	-	14	2532	c.2491C>T	c.(2491-2493)Caa>Taa	p.Q831*	EPHA4_ENST00000409854.1_Nonsense_Mutation_p.Q831*|EPHA4_ENST00000392071.4_Nonsense_Mutation_p.Q780*|EPHA4_ENST00000409938.1_Nonsense_Mutation_p.Q831*	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	831	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CTTACATCTTGATTGGACATA	0.408																																						uc002vmq.2		NA																	0				lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(2491-2493)CAA>TAA		ephrin receptor EphA4 precursor							128.0	125.0	126.0					2																	222298867		2203	4300	6503	SO:0001587	stop_gained	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222298867G>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2491C>T	2.37:g.222298867G>A	ENSP00000281821:p.Gln831*					EPHA4_uc002vmr.2_Nonsense_Mutation_p.Q831*|EPHA4_uc010zlm.1_Nonsense_Mutation_p.Q772*|EPHA4_uc010zln.1_Nonsense_Mutation_p.Q831*	p.Q831*	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	14	2533	-		Renal(207;0.0183)	831			Protein kinase.|Cytoplasmic (Potential).		A8K2P1|B2R601|B7Z6Q8|Q2M380	Nonsense_Mutation	SNP	ENST00000281821.2	37	c.2491C>T	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	G	43	9.856119	0.99280	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5135	0.95154	0.0:0.0:1.0:0.0	.	.	.	.	X	831;831;831;780	.	ENSP00000281821:Q831X	Q	-	1	0	EPHA4	222007111	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.622000	0.88805	0.650000	0.86243	CAA		0.408	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			9	70	0	0	0	0	9	70				
CHRNG	1146	broad.mit.edu	37	2	233405103	233405103	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:233405103G>A	ENST00000389494.3	+	3	229	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	CHRNG_ENST00000389492.3_Missense_Mutation_p.E70K	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	70					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CGAGCGAGAGGAAGCCCTCAC	0.632																																						uc002vsx.1		NA																	0					0						c.(208-210)GAA>AAA		cholinergic receptor, nicotinic, gamma							115.0	101.0	106.0					2																	233405103		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233405103G>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.208G>A	2.37:g.233405103G>A	ENSP00000374145:p.Glu70Lys					CHRNG_uc010fyd.2_Missense_Mutation_p.E70K|CHRNG_uc010fye.1_Missense_Mutation_p.E70K	p.E70K	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	3	229	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	70			Extracellular (Potential).		B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.208G>A	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450583	0.84101	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	T;T	0.78595	-1.19;-1.19	3.88	3.88	0.44766	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88157	0.6361	M	0.86268	2.805	0.49051	D	0.999743	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90084	0.4172	10	0.87932	D	0	.	13.1563	0.59520	0.0:0.0:1.0:0.0	.	70;70	Q14DU4;P07510	.;ACHG_HUMAN	K	70	ENSP00000374145:E70K;ENSP00000374143:E70K	ENSP00000374143:E70K	E	+	1	0	CHRNG	233113347	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.696000	0.74598	1.994000	0.58287	0.462000	0.41574	GAA		0.632	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		17	78	0	0	0	0	17	78				
SH3BP4	23677	broad.mit.edu	37	2	235949960	235949960	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:235949960G>A	ENST00000409212.1	+	4	1054	c.547G>A	c.(547-549)Gag>Aag	p.E183K	SH3BP4_ENST00000392011.2_Missense_Mutation_p.E183K|SH3BP4_ENST00000344528.4_Missense_Mutation_p.E183K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	183					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGCCTGGATGAGCTGAATCC	0.493																																						uc002vvp.2		NA																	0				skin(3)|ovary(1)	4						c.(547-549)GAG>AAG		SH3-domain binding protein 4							117.0	115.0	115.0					2																	235949960		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235949960G>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.547G>A	2.37:g.235949960G>A	ENSP00000386862:p.Glu183Lys					SH3BP4_uc010fym.2_Missense_Mutation_p.E183K|SH3BP4_uc002vvq.2_Missense_Mutation_p.E183K	p.E183K	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	940	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	183					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.547G>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	2.369	-0.344834	0.05208	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.09630	2.96;2.96;2.96	5.59	3.74	0.42951	.	0.387359	0.31199	N	0.008079	T	0.07683	0.0193	N	0.24115	0.695	0.28723	N	0.902898	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.25433	-1.0132	10	0.10902	T	0.67	-23.4653	14.9392	0.70980	0.0:0.2712:0.7288:0.0	.	183;183	A8K594;Q9P0V3	.;SH3B4_HUMAN	K	183	ENSP00000375867:E183K;ENSP00000386862:E183K;ENSP00000340237:E183K	ENSP00000340237:E183K	E	+	1	0	SH3BP4	235614699	0.996000	0.38824	0.037000	0.18230	0.553000	0.35397	3.694000	0.54742	0.673000	0.31224	0.655000	0.94253	GAG		0.493	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			29	115	0	0	0	0	29	115				
TGM6	343641	broad.mit.edu	37	20	2378615	2378615	+	Missense_Mutation	SNP	G	G	A	rs182249285		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:2378615G>A	ENST00000202625.2	+	5	656	c.595G>A	c.(595-597)Ggt>Agt	p.G199S	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.G199S	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	199					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCGAAGCCCCGGTCACCAAAA	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		15744	0.001		0.0	False		,,,				2504	0.0					uc002wfy.1		NA																	0				ovary(3)|skin(1)	4						c.(595-597)GGT>AGT		transglutaminase 6	L-Glutamine(DB00130)						150.0	107.0	121.0					20																	2378615		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2378615G>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.595G>A	20.37:g.2378615G>A	ENSP00000202625:p.Gly199Ser					TGM6_uc010gal.1_Missense_Mutation_p.G199S	p.G199S	NM_198994	NP_945345	O95932	TGM3L_HUMAN			5	656	+			199					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.595G>A	CCDS13025.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.20	2.465307	0.43839	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.88586	-2.4;-2.4	5.31	2.91	0.33838	.	0.375542	0.33057	N	0.005328	T	0.72827	0.3509	N	0.04994	-0.135	0.22796	N	0.998726	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.58880	-0.7558	10	0.26408	T	0.33	-3.5161	6.542	0.22385	0.7489:0.1667:0.0844:0.0	.	199;199	O95932-2;O95932	.;TGM3L_HUMAN	S	199	ENSP00000202625:G199S;ENSP00000370831:G199S	ENSP00000202625:G199S	G	+	1	0	TGM6	2326615	0.009000	0.17119	0.969000	0.41365	0.936000	0.57629	0.921000	0.28718	0.464000	0.27142	-0.459000	0.05422	GGT		0.587	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		6	69	0	0	0	0	6	69				
PAK7	57144	broad.mit.edu	37	20	9520219	9520219	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:9520219C>G	ENST00000378429.3	-	11	2596	c.2050G>C	c.(2050-2052)Gag>Cag	p.E684Q	PAK7_ENST00000378423.1_Missense_Mutation_p.E684Q|PAK7_ENST00000353224.5_Missense_Mutation_p.E684Q	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	684	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGAGAGGGCTCCCTCACCAAC	0.507																																						uc002wnl.2		NA																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(2050-2052)GAG>CAG		p21-activated kinase 7							204.0	190.0	195.0					20																	9520219		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9520219C>G	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.2050G>C	20.37:g.9520219C>G	ENSP00000367686:p.Glu684Gln					PAK7_uc002wnk.2_Missense_Mutation_p.E684Q|PAK7_uc002wnj.2_Missense_Mutation_p.E684Q|PAK7_uc010gby.1_Missense_Mutation_p.E597Q	p.E684Q	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		11	2595	-			684			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.2050G>C	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305627	0.95601	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.14391	2.51;2.51;2.51	5.48	5.48	0.80851	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	0.17874	0.0429	L	0.43554	1.36	0.80722	D	1	P;P	0.36438	0.553;0.553	B;B	0.40199	0.322;0.239	T	0.02004	-1.1231	9	.	.	.	.	19.3557	0.94412	0.0:1.0:0.0:0.0	.	684;684	B0AZM9;Q9P286	.;PAK7_HUMAN	Q	684;684;684;545	ENSP00000367686:E684Q;ENSP00000322957:E684Q;ENSP00000367679:E684Q	.	E	-	1	0	PAK7	9468219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.597000	0.87782	0.655000	0.94253	GAG		0.507	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			26	152	0	0	0	0	26	152				
CST9	128822	broad.mit.edu	37	20	23586433	23586433	+	Silent	SNP	G	G	C	rs375634749		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:23586433G>C	ENST00000376971.3	-	1	80	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	23						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					AAGTCACCAGGAGCTGGAAGC	0.532																																						uc002wtl.2		NA																	0				ovary(1)	1						c.(67-69)CTC>CTG		cystatin 9 precursor		G		2,4404	4.2+/-10.8	0,2,2201	111.0	107.0	108.0		69	1.2	0.0	20		108	0,8600		0,0,4300	no	coding-synonymous	CST9	NM_001008693.2		0,2,6501	CC,CG,GG		0.0,0.0454,0.0154		23/160	23586433	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	128822					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23586433G>C	AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.69C>G	20.37:g.23586433G>C							p.L23L	NM_001008693	NP_001008693	Q5W186	CST9_HUMAN			1	178	-	Colorectal(13;0.0993)		23					B2RP76|Q8TD53	Silent	SNP	ENST00000376971.3	37	c.69C>G	CCDS33450.1																																																																																				0.532	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1		14	104	0	0	0	0	14	104				
RBM39	9584	broad.mit.edu	37	20	34302145	34302145	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:34302145G>A	ENST00000253363.6	-	11	1081	c.1058C>T	c.(1057-1059)aCa>aTa	p.T353I	RBM39_ENST00000407261.4_Missense_Mutation_p.T196I|snoU13_ENST00000459110.1_RNA|RBM39_ENST00000528062.3_Missense_Mutation_p.T331I|RBM39_ENST00000361162.6_Missense_Mutation_p.T353I			Q14498	RBM39_HUMAN	RNA binding motif protein 39	353	Activating domain. {ECO:0000250}.|Interaction with JUN. {ECO:0000250}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T353I(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					ACGACCAGTTGTTCCCAAATC	0.408																																						uc002xeb.2		NA																	3	Substitution - Missense(3)		endometrium(3)	ovary(1)|central_nervous_system(1)	2						c.(1057-1059)ACA>ATA		RNA binding motif protein 39 isoform a							163.0	138.0	146.0					20																	34302145		2203	4300	6503	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34302145G>A	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1058C>T	20.37:g.34302145G>A	ENSP00000253363:p.Thr353Ile					RBM39_uc002xdz.2_Missense_Mutation_p.T329I|RBM39_uc002xea.2_Missense_Mutation_p.T196I|RBM39_uc010gfn.2_Missense_Mutation_p.T196I|RBM39_uc010zvm.1_Missense_Mutation_p.T331I|RBM39_uc002xeg.2_Missense_Mutation_p.T331I|RBM39_uc002xec.2_Missense_Mutation_p.T353I|RBM39_uc002xed.2_Missense_Mutation_p.T71I|RBM39_uc002xee.2_Missense_Mutation_p.T196I|RBM39_uc002xef.2_Missense_Mutation_p.T196I|RBM39_uc010zvn.1_Missense_Mutation_p.T196I	p.T353I	NM_184234	NP_909122	Q14498	RBM39_HUMAN			11	1402	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		353			Activating domain (By similarity).|Interaction with JUN (By similarity).		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.1058C>T	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728577	0.89390	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.19	5.19	0.71726	.	0.043475	0.85682	D	0.000000	T	0.64527	0.2606	M	0.78049	2.395	0.80722	D	1	D;D;D;D;P	0.63046	0.984;0.984;0.978;0.992;0.928	P;P;P;P;P	0.61397	0.737;0.856;0.888;0.84;0.65	T	0.66752	-0.5844	10	0.54805	T	0.06	.	18.9101	0.92479	0.0:0.0:1.0:0.0	.	331;331;353;353;329	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.;.;.;RBM39_HUMAN;.	I	353;353;331;196	ENSP00000253363:T353I;ENSP00000354437:T353I;ENSP00000436747:T331I;ENSP00000384541:T196I	ENSP00000253363:T353I	T	-	2	0	RBM39	33765559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.566000	0.82347	2.711000	0.92665	0.655000	0.94253	ACA		0.408	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		8	66	0	0	0	0	8	66				
KIAA1755	85449	broad.mit.edu	37	20	36869389	36869389	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:36869389C>G	ENST00000279024.4	-	3	1415	c.1144G>C	c.(1144-1146)Gac>Cac	p.D382H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	382										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAGGCACAGTCCAGTGCGTCC	0.547																																						uc002xhy.1		NA																	0				ovary(4)|pancreas(1)	5						c.(1144-1146)GAC>CAC		hypothetical protein LOC85449							106.0	112.0	110.0					20																	36869389		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36869389C>G	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1144G>C	20.37:g.36869389C>G	ENSP00000279024:p.Asp382His					KIAA1755_uc002xhz.1_Missense_Mutation_p.D382H	p.D382H	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			3	1416	-		Myeloproliferative disorder(115;0.00874)	382					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.1144G>C	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	8.280	0.815372	0.16607	.	.	ENSG00000149633	ENST00000279024	T	0.60299	0.2	4.79	0.385	0.16249	.	1.311710	0.05192	N	0.503351	T	0.28234	0.0697	N	0.02802	-0.49	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.14282	-1.0478	10	0.32370	T	0.25	.	0.6758	0.00866	0.1564:0.2864:0.2652:0.292	.	382	Q5JYT7	K1755_HUMAN	H	382	ENSP00000279024:D382H	ENSP00000279024:D382H	D	-	1	0	KIAA1755	36302803	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.137000	0.15995	0.230000	0.21059	0.655000	0.94253	GAC		0.547	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		30	172	0	0	0	0	30	172				
GNAS	2778	broad.mit.edu	37	20	57429096	57429096	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:57429096C>T	ENST00000371100.4	+	1	1328	c.776C>T	c.(775-777)gCg>gTg	p.A259V	GNAS_ENST00000371102.4_Missense_Mutation_p.A259V|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.R196W|GNAS_ENST00000371099.2_Missense_Mutation_p.A259V	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0			E -> V (in AHO). {ECO:0000269|PubMed:12624854}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCGGCAGTCGCGGCCTCGAGT	0.667			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.2		NA		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		0				pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(775-777)GCG>GTG		GNAS complex locus XLas							8.0	11.0	10.0					20																	57429096		1821	4001	5822	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429096C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.776C>T	20.37:g.57429096C>T	ENSP00000360141:p.Ala259Val	TSP Lung(22;0.16)				GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	p.A259V	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	1061	+	all_lung(29;0.0104)		Error:Variant_position_missing_in_P63092_after_alignment					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.776C>T	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.616|9.616	1.132627|1.132627	0.21041|0.21041	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102|ENST00000306120	D;D|.	0.93488|.	-3.23;-3.21|.	3.85|3.85	2.89|2.89	0.33648|0.33648	.|.	14.607400|.	0.01025|.	U|.	0.004040|.	T|T	0.39989|0.39989	0.1099|0.1099	N|N	0.24115|0.24115	0.695|0.695	0.32865|0.32865	D|D	0.508438|0.508438	P|.	0.43662|.	0.814|.	B|.	0.27887|.	0.084|.	T|T	0.55010|0.55010	-0.8207|-0.8207	10|6	0.72032|0.66056	D|D	0.01|0.02	.|.	9.5757|9.5757	0.39457|0.39457	0.0:0.7861:0.2139:0.0|0.0:0.7861:0.2139:0.0	.|.	259|.	Q5JWF2|.	GNAS1_HUMAN|.	V|W	259|196	ENSP00000360141:A259V;ENSP00000360143:A259V|.	ENSP00000360140:A259V|ENSP00000302237:R196W	A|R	+|+	2|1	0|2	GNAS|GNAS	56862491|56862491	0.146000|0.146000	0.22672|0.22672	0.366000|0.366000	0.25914|0.25914	0.024000|0.024000	0.10985|0.10985	0.435000|0.435000	0.21510|0.21510	1.193000|1.193000	0.43086|0.43086	-0.304000|-0.304000	0.09214|0.09214	GCG|CGG		0.667	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		6	28	0	0	0	0	6	28				
ARFRP1	10139	broad.mit.edu	37	20	62331810	62331810	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:62331810C>G	ENST00000359715.5	-	7	1157	c.591G>C	c.(589-591)caG>caC	p.Q197H	ARFRP1_ENST00000440854.1_3'UTR|ARFRP1_ENST00000324228.2_Missense_Mutation_p.Q197H|ARFRP1_ENST00000485858.1_5'UTR|ARFRP1_ENST00000607873.1_Missense_Mutation_p.Q150H|ARFRP1_ENST00000609142.1_3'UTR			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	197					gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			TGATGTCCCTCTGCCGCGGCG	0.682																																						uc002yga.2		NA																	0				breast(1)|skin(1)	2						c.(589-591)CAG>CAC		ADP-ribosylation factor related protein 1							38.0	36.0	37.0					20																	62331810		2196	4289	6485	SO:0001583	missense	10139				small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity	g.chr20:62331810C>G	X91504	CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1	20q13.3	2014-05-09			ENSG00000101246	ENSG00000101246		"""ADP-ribosylation factors"""	662	protein-coding gene	gene with protein product		604699				8530503	Standard	NM_003224		Approved	ARP, Arp1, ARL18	uc031rup.1	Q13795	OTTHUMG00000032993	ENST00000359715.5:c.591G>C	20.37:g.62331810C>G	ENSP00000352746:p.Gln197His					ARFRP1_uc002ygc.2_Missense_Mutation_p.Q197H|ARFRP1_uc002ygh.3_3'UTR|ARFRP1_uc011abf.1_3'UTR|ARFRP1_uc011abg.1_3'UTR|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Missense_Mutation_p.Q197H|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA	p.Q197H	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)		7	1158	-	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		197					B7ZKX7|E1P5J9|Q6IBQ0	Missense_Mutation	SNP	ENST00000359715.5	37	c.591G>C	CCDS13533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.063540|4.063540	0.76187|0.76187	.|.	.|.	ENSG00000101246|ENSG00000101246	ENST00000217224|ENST00000359715;ENST00000324228	.|T;T	.|0.67523	.|-0.27;-0.27	4.9|4.9	3.95|3.95	0.45737|0.45737	.|.	.|0.178743	.|0.49916	.|D	.|0.000121	T|T	0.56093|0.56093	0.1962|0.1962	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.52815|0.52815	-0.8525|-0.8525	5|10	.|0.45353	.|T	.|0.12	-29.9826|-29.9826	12.8518|12.8518	0.57862|0.57862	0.0:0.9193:0.0:0.0807|0.0:0.9193:0.0:0.0807	.|.	.|197	.|Q13795	.|ARFRP_HUMAN	Q|H	125|197	.|ENSP00000352746:Q197H;ENSP00000326884:Q197H	.|ENSP00000326884:Q197H	E|Q	-|-	1|3	0|2	ARFRP1|ARFRP1	61802254|61802254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	3.477000|3.477000	0.53151|0.53151	1.075000|1.075000	0.40932|0.40932	0.462000|0.462000	0.41574|0.41574	GAG|CAG		0.682	ARFRP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472024.1			3	62	0	0	0	0	3	62				
SON	6651	broad.mit.edu	37	21	34923116	34923116	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr21:34923116C>T	ENST00000356577.4	+	3	2054	c.1579C>T	c.(1579-1581)Cat>Tat	p.H527Y	SON_ENST00000290239.6_Missense_Mutation_p.H527Y|SON_ENST00000381679.4_Missense_Mutation_p.H527Y|SON_ENST00000300278.4_Missense_Mutation_p.H527Y|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	527					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ACATCCTGGGCATCCTGAGGT	0.592																																						uc002yse.1		NA																	0				ovary(4)|skin(2)	6						c.(1579-1581)CAT>TAT		SON DNA-binding protein isoform F							130.0	134.0	132.0					21																	34923116		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923116C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1579C>T	21.37:g.34923116C>T	ENSP00000348984:p.His527Tyr					SON_uc002ysb.1_Missense_Mutation_p.H527Y|SON_uc002ysc.2_Missense_Mutation_p.H527Y|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	p.H527Y	NM_138927	NP_620305	P18583	SON_HUMAN			3	1628	+			527					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.1579C>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712577	0.30322	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.12569	2.85;2.85;2.85;2.67	4.74	4.74	0.60224	.	0.224065	0.31976	N	0.006778	T	0.10895	0.0266	N	0.08118	0	0.24696	N	0.993287	D;D;D	0.56521	0.976;0.961;0.961	B;P;P	0.47206	0.34;0.541;0.541	T	0.12993	-1.0526	10	0.56958	D	0.05	.	15.582	0.76452	0.0:1.0:0.0:0.0	.	527;527;527	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	Y	527	ENSP00000348984:H527Y;ENSP00000290239:H527Y;ENSP00000300278:H527Y;ENSP00000371095:H527Y	ENSP00000290239:H527Y	H	+	1	0	SON	33844986	0.892000	0.30473	1.000000	0.80357	0.997000	0.91878	0.734000	0.26101	2.614000	0.88457	0.491000	0.48974	CAT		0.592	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		21	125	0	0	0	0	21	125				
TTC3	7267	broad.mit.edu	37	21	38525425	38525425	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr21:38525425G>C	ENST00000399017.2	+	27	5335	c.2588G>C	c.(2587-2589)aGa>aCa	p.R863T	TTC3_ENST00000355666.1_Missense_Mutation_p.R863T|TTC3_ENST00000540756.1_Missense_Mutation_p.R553T|TTC3_ENST00000354749.2_Missense_Mutation_p.R863T|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	863					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTTTCTAGCAGAAATTTTCTA	0.348																																					Ovarian(38;194 1649 35661)	uc002yvz.2		NA																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(2587-2589)AGA>ACA		tetratricopeptide repeat domain 3							81.0	89.0	86.0					21																	38525425		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38525425G>C	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2588G>C	21.37:g.38525425G>C	ENSP00000381981:p.Arg863Thr					TTC3_uc011aee.1_Missense_Mutation_p.R553T|TTC3_uc002ywa.2_Missense_Mutation_p.R863T|TTC3_uc002ywb.2_Missense_Mutation_p.R863T|TTC3_uc010gnf.2_Missense_Mutation_p.R628T|TTC3_uc002ywc.2_Missense_Mutation_p.R553T|TTC3_uc011aed.1_Missense_Mutation_p.R553T	p.R863T	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			27	2693	+		Myeloproliferative disorder(46;0.0412)	863					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.2588G>C	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.99|11.99	1.803279|1.803279	0.31869|0.31869	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000414818;ENST00000411496|ENST00000418766;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	.|T;T;T;T;T;T	.|0.44083	.|2.72;2.72;3.07;0.93;3.07;3.07	4.79|4.79	-0.373|-0.373	0.12516|0.12516	.|.	.|0.647462	.|0.15179	.|N	.|0.276206	T|T	0.30854|0.30854	0.0778|0.0778	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	.|B;P	.|0.39665	.|0.008;0.682	.|B;B	.|0.32980	.|0.016;0.156	T|T	0.10965|0.10965	-1.0607|-1.0607	5|10	.|0.52906	.|T	.|0.07	-11.7584|-11.7584	9.1193|9.1193	0.36778|0.36778	0.3865:0.0:0.6135:0.0|0.3865:0.0:0.6135:0.0	.|.	.|553;863	.|B4DSZ9;P53804	.|.;TTC3_HUMAN	Q|T	227;1|863;845;863;553;863;863	.|ENSP00000403943:R863T;ENSP00000391891:R845T;ENSP00000347889:R863T;ENSP00000442875:R553T;ENSP00000381981:R863T;ENSP00000346791:R863T	.|ENSP00000346791:R863T	E|R	+|+	1|2	0|0	TTC3|TTC3	37447295|37447295	0.999000|0.999000	0.42202|0.42202	0.992000|0.992000	0.48379|0.48379	0.989000|0.989000	0.77384|0.77384	2.681000|2.681000	0.46926|0.46926	-0.170000|-0.170000	0.10816|0.10816	-0.142000|-0.142000	0.14014|0.14014	GAA|AGA		0.348	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			18	86	0	0	0	0	18	86				
MYH9	4627	broad.mit.edu	37	22	36708234	36708234	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr22:36708234C>T	ENST00000216181.5	-	14	1818	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	530	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.E530K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGCACTCCTCGTCCAGCAGG	0.637			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NA		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		1	Substitution - Missense(1)		prostate(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(1588-1590)GAG>AAG		myosin, heavy polypeptide 9, non-muscle							81.0	70.0	73.0					22																	36708234		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36708234C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1588G>A	22.37:g.36708234C>T	ENSP00000216181:p.Glu530Lys					MYH9_uc003aph.1_Missense_Mutation_p.E394K	p.E530K	NM_002473	NP_002464	P35579	MYH9_HUMAN			14	1819	-			530			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1588G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433500	0.96150	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.80653	-1.4	4.57	4.57	0.56435	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93930	0.8057	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96569	0.9421	10	0.87932	D	0	.	17.3444	0.87306	0.0:1.0:0.0:0.0	.	530	P35579	MYH9_HUMAN	K	394;530	ENSP00000216181:E530K	ENSP00000216181:E530K	E	-	1	0	MYH9	35038180	1.000000	0.71417	0.995000	0.50966	0.939000	0.58152	7.818000	0.86416	2.258000	0.74832	0.561000	0.74099	GAG		0.637	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		12	65	0	0	0	0	12	65				
APEH	327	broad.mit.edu	37	3	49722464	49722464	+	IGR	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:49722464G>C	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Missense_Mutation_p.R535G	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R521G(2)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGCACTGCCGGGCAGTCAGT	0.592																																						uc003cxg.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1603-1605)CGG>GGG		macrophage stimulating 1 (hepatocyte growth							8.0	8.0	8.0					3																	49722464		2121	4165	6286	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49722464G>C	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49722464G>C							p.R535G	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	14	1675	-			521			Peptidase S1.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1603C>G	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717706	0.48622	.	.	ENSG00000173531	ENST00000449682	D	0.92446	-3.04	4.8	4.8	0.61643	.	0.207615	0.24102	N	0.041522	D	0.85669	0.5750	N	0.03238	-0.38	0.80722	D	1	D	0.61697	0.99	P	0.50970	0.655	D	0.87882	0.2678	10	0.62326	D	0.03	.	12.2518	0.54601	0.0:0.0:0.8298:0.1702	.	535	G3XAK1	.	G	535	ENSP00000414287:R535G	ENSP00000414287:R535G	R	-	1	2	MST1	49697468	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	5.903000	0.69877	2.636000	0.89361	0.655000	0.94253	CGG		0.592	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	18	0	0	0	0	3	18				
TOPBP1	11073	broad.mit.edu	37	3	133368367	133368367	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:133368367G>C	ENST00000260810.5	-	10	1495	c.1364C>G	c.(1363-1365)tCa>tGa	p.S455*	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	455					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AGGCTTATGTGAAACTGGAAT	0.393								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2		NA																	0				ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(1363-1365)TCA>TGA	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							163.0	153.0	156.0					3																	133368367		1843	4093	5936	SO:0001587	stop_gained	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133368367G>C	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1364C>G	3.37:g.133368367G>C	ENSP00000260810:p.Ser455*						p.S455*	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			10	1496	-			455					B7Z7W8|Q7LGC1|Q9UEB9	Nonsense_Mutation	SNP	ENST00000260810.5	37	c.1364C>G	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	G	38	6.670581	0.97751	.	.	ENSG00000163781	ENST00000260810	.	.	.	5.6	5.6	0.85130	.	0.434763	0.24856	N	0.035044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	10.7003	0.45924	0.116:0.0:0.884:0.0	.	.	.	.	X	455	.	ENSP00000260810:S455X	S	-	2	0	TOPBP1	134851057	0.999000	0.42202	0.994000	0.49952	0.902000	0.53008	1.615000	0.36922	2.642000	0.89623	0.650000	0.86243	TCA		0.393	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		35	124	0	0	0	0	35	124				
EPHB1	2047	broad.mit.edu	37	3	134911464	134911464	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:134911464G>C	ENST00000398015.3	+	11	2299	c.1929G>C	c.(1927-1929)aaG>aaC	p.K643N	EPHB1_ENST00000493838.1_Missense_Mutation_p.K204N	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	643	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGCCAGGCAAGAGGGAAATCT	0.527																																						uc003eqt.2		NA																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1927-1929)AAG>AAC		ephrin receptor EphB1 precursor							69.0	75.0	73.0					3																	134911464		2171	4295	6466	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134911464G>C	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1929G>C	3.37:g.134911464G>C	ENSP00000381097:p.Lys643Asn					EPHB1_uc003equ.2_Missense_Mutation_p.K204N	p.K643N	NM_004441	NP_004432	P54762	EPHB1_HUMAN			11	2149	+			643			Cytoplasmic (Potential).|Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1929G>C	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166033	0.78339	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	D;D	0.82893	-1.66;-1.66	5.25	4.37	0.52481	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86981	0.6064	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88038	0.2779	10	0.87932	D	0	.	13.8016	0.63204	0.0743:0.0:0.9257:0.0	.	643	P54762	EPHB1_HUMAN	N	643;204	ENSP00000381097:K643N;ENSP00000419574:K204N	ENSP00000381097:K643N	K	+	3	2	EPHB1	136394154	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.852000	0.48310	1.222000	0.43521	0.561000	0.74099	AAG		0.527	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		10	37	0	0	0	0	10	37				
ESYT3	83850	broad.mit.edu	37	3	138187688	138187688	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:138187688G>A	ENST00000389567.4	+	14	1585	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	467	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CCTGAATGGTGAATATCGAGC	0.463																																						uc003esk.2		NA																	0					0						c.(1399-1401)GAA>AAA		family with sequence similarity 62 (C2 domain							232.0	255.0	247.0					3																	138187688		2203	4300	6503	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138187688G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1399G>A	3.37:g.138187688G>A	ENSP00000374218:p.Glu467Lys					ESYT3_uc010hug.2_RNA	p.E467K	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN			14	1625	+			467			C2 2.		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.1399G>A	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200869	0.79015	.	.	ENSG00000158220	ENST00000389567	T	0.37235	1.21	4.29	4.29	0.51040	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.402184	0.21765	N	0.069455	T	0.46073	0.1374	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.33317	-0.9873	10	0.06236	T	0.91	-5.1802	12.1407	0.53996	0.0:0.0:1.0:0.0	.	467	A0FGR9	ESYT3_HUMAN	K	467	ENSP00000374218:E467K	ENSP00000374218:E467K	E	+	1	0	ESYT3	139670378	1.000000	0.71417	0.982000	0.44146	0.976000	0.68499	5.264000	0.65513	2.223000	0.72356	0.462000	0.41574	GAA		0.463	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		44	363	0	0	0	0	44	363				
ATR	545	broad.mit.edu	37	3	142241603	142241603	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:142241603G>A	ENST00000350721.4	-	23	4354	c.4233C>T	c.(4231-4233)agC>agT	p.S1411S	ATR_ENST00000383101.3_Silent_p.S1347S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1411					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTTGAGCTCGGCTATTATCAG	0.358								Other conserved DNA damage response genes																														uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(4231-4233)AGC>AGT	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							125.0	128.0	127.0					3																	142241603		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142241603G>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4233C>T	3.37:g.142241603G>A							p.S1411S	NM_001184	NP_001175	Q13535	ATR_HUMAN			23	4355	-			1411					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.4233C>T	CCDS3124.1																																																																																				0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		42	121	0	0	0	0	42	121				
ATR	545	broad.mit.edu	37	3	142285073	142285073	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:142285073G>C	ENST00000350721.4	-	3	303	c.182C>G	c.(181-183)tCt>tGt	p.S61C	ATR_ENST00000383101.3_Missense_Mutation_p.S61C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	61					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGTTGGCTGAGAGTCAGTTTT	0.378								Other conserved DNA damage response genes																														uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(181-183)TCT>TGT	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							82.0	79.0	80.0					3																	142285073		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142285073G>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.182C>G	3.37:g.142285073G>C	ENSP00000343741:p.Ser61Cys						p.S61C	NM_001184	NP_001175	Q13535	ATR_HUMAN			3	304	-			61					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.182C>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124895	0.77436	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.69175	-0.38;-0.38	5.53	5.53	0.82687	.	0.084433	0.47852	D	0.000213	T	0.71434	0.3339	L	0.60455	1.87	0.31986	N	0.605296	P	0.49696	0.927	P	0.47673	0.554	T	0.78224	-0.2287	10	0.72032	D	0.01	-8.0897	19.0583	0.93076	0.0:0.0:1.0:0.0	.	61	Q13535	ATR_HUMAN	C	61	ENSP00000343741:S61C;ENSP00000372581:S61C	ENSP00000343741:S61C	S	-	2	0	ATR	143767763	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.502000	0.90505	2.594000	0.87642	0.563000	0.77884	TCT		0.378	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		4	36	0	0	0	0	4	36				
C3orf79	152118	broad.mit.edu	37	3	153202424	153202424	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:153202424C>G	ENST00000446603.2	+	1	141	c.79C>G	c.(79-81)Ctt>Gtt	p.L27V	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	27										endometrium(1)|large_intestine(3)	4						CAGTTGCCATCTTCTGCCTAC	0.413																																						uc003ezt.2		NA																	0					0						c.(79-81)CTT>GTT		chromosome 3 open reading frame 79							271.0	258.0	262.0					3																	153202424		1930	4143	6073	SO:0001583	missense	152118							g.chr3:153202424C>G	AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.79C>G	3.37:g.153202424C>G	ENSP00000389475:p.Leu27Val						p.L27V	NM_001101337	NP_001094807	P0CE67	CC079_HUMAN			1	141	+			27						Missense_Mutation	SNP	ENST00000446603.2	37	c.79C>G	CCDS46937.1	.	.	.	.	.	.	.	.	.	.	C	4.907	0.168581	0.09339	.	.	ENSG00000237787	ENST00000446603	.	.	.	3.19	0.206	0.15208	.	.	.	.	.	T	0.18635	0.0447	N	0.08118	0	0.09310	N	1	B	0.20550	0.046	B	0.22880	0.042	T	0.23655	-1.0182	8	0.87932	D	0	.	7.2643	0.26222	0.0:0.5803:0.3145:0.1052	.	27	P0CE67	CC079_HUMAN	V	27	.	ENSP00000389475:L27V	L	+	1	0	C3orf79	154685114	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	-0.638000	0.05452	-0.208000	0.10171	-0.797000	0.03246	CTT		0.413	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356570.1	NM_001101337		19	236	0	0	0	0	19	236				
PLCH1	23007	broad.mit.edu	37	3	155200325	155200325	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:155200325G>A	ENST00000340059.7	-	23	3513	c.3514C>T	c.(3514-3516)Ctg>Ttg	p.L1172L	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Silent_p.L1134L|PLCH1_ENST00000334686.6_Silent_p.L1134L|PLCH1_ENST00000414191.1_Silent_p.L1134L|PLCH1_ENST00000447496.2_3'UTR	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1172					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTCTCCTGCAGAATTGCAGTT	0.458																																						uc011bok.1		NA																	0				skin(3)|ovary(1)	4						c.(3514-3516)CTG>TTG		phospholipase C eta 1 isoform a							73.0	72.0	72.0					3																	155200325		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200325G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3514C>T	3.37:g.155200325G>A						PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.L1134L	p.L1172L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3791	-			1172					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.3514C>T	CCDS46939.1																																																																																				0.458	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		8	42	0	0	0	0	8	42				
DGKG	1608	broad.mit.edu	37	3	185882740	185882740	+	Silent	SNP	G	G	A	rs137961016	byFrequency	TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:185882740G>A	ENST00000265022.3	-	23	2702	c.2163C>T	c.(2161-2163)acC>acT	p.T721T	DGKG_ENST00000382164.4_Silent_p.T682T|DGKG_ENST00000344484.4_Silent_p.T696T|DGKG_ENST00000544847.1_Silent_p.T662T|DGKG_ENST00000447054.1_5'UTR	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	721					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCTTCAGGCCGGTGTAGATCT	0.587													G|||	2	0.000399361	0.0	0.0	5008	,	,		15781	0.001		0.0	False		,,,				2504	0.001					uc003fqa.2		NA																	0				breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(2161-2163)ACC>ACT		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)	G	,,	2,4404	4.2+/-10.8	0,2,2201	113.0	92.0	99.0		2088,2046,2163	0.6	1.0	3	dbSNP_134	99	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DGKG	NM_001080744.1,NM_001080745.1,NM_001346.2	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	696/767,682/753,721/792	185882740	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185882740G>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.2163C>T	3.37:g.185882740G>A						DGKG_uc003fqb.2_Silent_p.T682T|DGKG_uc003fqc.2_Silent_p.T696T|DGKG_uc011brx.1_Silent_p.T662T	p.T721T	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	23	2700	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		721					B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	c.2163C>T	CCDS3274.1																																																																																				0.587	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			13	52	0	0	0	0	13	52				
FETUB	26998	broad.mit.edu	37	3	186358276	186358276	+	Silent	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:186358276C>A	ENST00000265029.3	+	1	128	c.27C>A	c.(25-27)ctC>ctA	p.L9L	FETUB_ENST00000382136.3_Silent_p.L9L|FETUB_ENST00000450521.1_Silent_p.L9L|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Silent_p.L9L|FETUB_ENST00000539949.1_Intron|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	9				L -> P (in Ref. 7; AAH74734). {ECO:0000305}.	binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CCCTGGCACTCTGCATCCTAG	0.597																																						uc010hyq.2		NA																	0				ovary(1)|lung(1)	2						c.(25-27)CTC>CTA		fetuin B precursor							150.0	144.0	146.0					3																	186358276		2203	4300	6503	SO:0001819	synonymous_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186358276C>A	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.27C>A	3.37:g.186358276C>A						FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Silent_p.L9L|FETUB_uc003fqo.2_Translation_Start_Site|FETUB_uc010hyr.2_Silent_p.L9L|FETUB_uc010hys.2_Translation_Start_Site|FETUB_uc003fqp.3_Silent_p.L9L	p.L9L	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	2	288	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		9	L -> P (in Ref. 6; AAH74734).				B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Silent	SNP	ENST00000265029.3	37	c.27C>A	CCDS3279.1																																																																																				0.597	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		77	209	1	0	1.41e-51	1.58e-51	77	209				
ST6GAL1	6480	broad.mit.edu	37	3	186793540	186793540	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:186793540C>T	ENST00000169298.3	+	8	1844	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	ST6GAL1_ENST00000457772.2_Silent_p.I159I|ST6GAL1_ENST00000448044.1_Silent_p.I390I	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	390					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		ATGAGGACATCTACCTGCTTG	0.507																																						uc003frb.2		NA																	0				central_nervous_system(1)	1						c.(1168-1170)ATC>ATT		ST6 beta-galactosamide							88.0	87.0	88.0					3																	186793540		2203	4300	6503	SO:0001819	synonymous_variant	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186793540C>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1170C>T	3.37:g.186793540C>T						ST6GAL1_uc003frc.2_Silent_p.I159I|ST6GAL1_uc003frd.2_Silent_p.I390I	p.I390I	NM_173216	NP_775323	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	8	1602	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		390			Lumenal (Potential).		A8KA14|B2R513|D3DNV3	Silent	SNP	ENST00000169298.3	37	c.1170C>T	CCDS3285.1																																																																																				0.507	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		5	81	0	0	0	0	5	81				
RTP1	132112	broad.mit.edu	37	3	186917561	186917561	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:186917561C>G	ENST00000312295.4	+	2	525	c.495C>G	c.(493-495)tgC>tgG	p.C165W	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	165					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GCGAGCAGTGCTACGGCGAGC	0.687																																						uc003frg.2		NA																	0				ovary(2)|breast(1)	3						c.(493-495)TGC>TGG		receptor transporting protein 1							30.0	28.0	29.0					3																	186917561		2203	4299	6502	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917561C>G	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.495C>G	3.37:g.186917561C>G	ENSP00000311712:p.Cys165Trp						p.C165W	NM_153708	NP_714919	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	525	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		165			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000312295.4	37	c.495C>G	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856787	0.71834	.	.	ENSG00000175077	ENST00000312295	T	0.23147	1.92	5.7	5.7	0.88788	.	0.131270	0.64402	D	0.000001	T	0.50394	0.1613	M	0.72894	2.215	0.51767	D	0.999931	D	0.89917	1.0	D	0.75020	0.985	T	0.49194	-0.8965	10	0.66056	D	0.02	.	15.3379	0.74273	0.0:1.0:0.0:0.0	.	165	P59025	RTP1_HUMAN	W	165	ENSP00000311712:C165W	ENSP00000311712:C165W	C	+	3	2	RTP1	188400255	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.260000	0.43267	2.711000	0.92665	0.561000	0.74099	TGC		0.687	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		21	29	0	0	0	0	21	29				
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311							protein complex binding (GO:0032403)	p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557																																						uc011bsp.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(931-933)CAG>GAG		hypothetical protein LOC151963							34.0	35.0	34.0					3																	192516720		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192516720G>C	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.931C>G	3.37:g.192516720G>C	ENSP00000376246:p.Gln311Glu						p.Q311E	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	1252	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		311					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.931C>G	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453077	0.43531	.	.	ENSG00000180611	ENST00000392452	T	0.07800	3.16	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	L	0.51422	1.61	0.80722	D	1	P	0.46784	0.884	B	0.42959	0.403	T	0.07102	-1.0790	10	0.05351	T	0.99	.	18.2403	0.89966	0.0:0.0:1.0:0.0	.	311	Q8IYB1	M21D2_HUMAN	E	311	ENSP00000376246:Q311E	ENSP00000376246:Q311E	Q	-	1	0	MB21D2	193999414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	CAG		0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		4	46	0	0	0	0	4	46				
IQCG	84223	broad.mit.edu	37	3	197665630	197665630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:197665630C>A	ENST00000265239.6	-	5	728	c.304G>T	c.(304-306)Gaa>Taa	p.E102*	IQCG_ENST00000455191.1_Nonsense_Mutation_p.E102*|IQCG_ENST00000453254.1_Nonsense_Mutation_p.E102*|IQCG_ENST00000480302.1_5'UTR	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	102						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TTCGTTCCTTCTAGATTCATT	0.338																																						uc003fyo.2		NA																	0					0						c.(304-306)GAA>TAA		IQ motif containing G							178.0	194.0	189.0					3																	197665630		2203	4300	6503	SO:0001587	stop_gained	84223							g.chr3:197665630C>A	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.304G>T	3.37:g.197665630C>A	ENSP00000265239:p.Glu102*					IQCG_uc003fyn.2_Nonsense_Mutation_p.E4*|IQCG_uc003fyp.2_Nonsense_Mutation_p.E102*|IQCG_uc003fyq.3_Nonsense_Mutation_p.E102*	p.E102*	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	4	450	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		102					Q9BST2|Q9HAG8	Nonsense_Mutation	SNP	ENST00000265239.6	37	c.304G>T	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753687	0.49362	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	.	.	.	4.03	3.14	0.36123	.	1.220290	0.05598	N	0.575910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-3.1533	8.1893	0.31359	0.0:0.8839:0.0:0.1161	.	.	.	.	X	102;102;102;83	.	ENSP00000265239:E102X	E	-	1	0	IQCG	199150027	0.238000	0.23825	0.004000	0.12327	0.003000	0.03518	2.766000	0.47629	0.810000	0.34279	0.558000	0.71614	GAA		0.338	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		27	184	1	0	2.45e-14	2.72e-14	27	184				
DGKQ	1609	broad.mit.edu	37	4	957073	957073	+	Silent	SNP	C	C	T	rs368255631		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:957073C>T	ENST00000273814.3	-	16	1813	c.1740G>A	c.(1738-1740)gcG>gcA	p.A580A	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	580					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGGGCAGCTTCGCGTGCTGAC	0.652																																					Esophageal Squamous(17;537 645 4447 26373)	uc003gbw.2		NA																	0				kidney(1)	1						c.(1738-1740)GCG>GCA		diacylglycerol kinase, theta		C		0,4398		0,0,2199	27.0	32.0	30.0		1740	0.3	0.1	4		30	1,8591		0,1,4295	no	coding-synonymous	DGKQ	NM_001347.2		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		580/943	957073	1,12989	2199	4296	6495	SO:0001819	synonymous_variant	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:957073C>T	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1740G>A	4.37:g.957073C>T						DGKQ_uc010ibn.2_Silent_p.A567A	p.A580A	NM_001347	NP_001338	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		16	1814	-			580					Q6P3W4	Silent	SNP	ENST00000273814.3	37	c.1740G>A	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	C	0.238	-1.015591	0.02078	0.0	1.16E-4	ENSG00000145214	ENST00000509465	.	.	.	5.11	0.272	0.15645	.	.	.	.	.	T	0.24160	0.0585	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25398	-1.0133	4	.	.	.	.	4.646	0.12572	0.0:0.427:0.1574:0.4156	.	.	.	.	Q	514	.	.	R	-	2	0	DGKQ	947073	0.000000	0.05858	0.112000	0.21494	0.003000	0.03518	-1.350000	0.02624	0.176000	0.19873	-0.284000	0.09977	CGA		0.652	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			10	38	0	0	0	0	10	38				
ADRA2C	152	broad.mit.edu	37	4	3768939	3768939	+	Silent	SNP	C	C	T	rs550024898		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:3768939C>T	ENST00000330055.5	+	1	815	c.606C>T	c.(604-606)tgC>tgT	p.C202C	ADRA2C_ENST00000509482.1_Silent_p.C202C	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	202					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACCCGCAGTGCGGCCTCAACG	0.672																																					Esophageal Squamous(12;454 628 4517 14479)	uc003ghm.2		NA																	0					0						c.(604-606)TGC>TGT		alpha-2C-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						20.0	21.0	21.0					4																	3768939		2188	4292	6480	SO:0001819	synonymous_variant	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3768939C>T	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.606C>T	4.37:g.3768939C>T						ADRA2C_uc010icx.2_Silent_p.C202C	p.C202C	NM_000683	NP_000674	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	644	+			202			Extracellular (By similarity).		P35369|Q9HB49	Silent	SNP	ENST00000330055.5	37	c.606C>T	CCDS47004.1																																																																																				0.672	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		3	25	0	0	0	0	3	25				
WDR19	57728	broad.mit.edu	37	4	39276495	39276495	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:39276495C>T	ENST00000399820.3	+	33	3787	c.3633C>T	c.(3631-3633)ttC>ttT	p.F1211F	WDR19_ENST00000288634.7_Silent_p.F1051F	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1211					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						ACTCTGCTTTCAGCTTCGCAG	0.488																																						uc003gtv.2		NA																	0				large_intestine(1)	1						c.(3631-3633)TTC>TTT		WD repeat domain 19							141.0	131.0	134.0					4																	39276495		1969	4172	6141	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39276495C>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3633C>T	4.37:g.39276495C>T						WDR19_uc011byi.1_Silent_p.F1051F|WDR19_uc003gtw.1_Silent_p.F808F	p.F1211F	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			33	3787	+			1211					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.3633C>T	CCDS47042.1																																																																																				0.488	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			8	96	0	0	0	0	8	96				
GUF1	60558	broad.mit.edu	37	4	44700691	44700691	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:44700691C>G	ENST00000281543.5	+	17	2197	c.2003C>G	c.(2002-2004)tCt>tGt	p.S668C	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ACACAATCTTCTAAATAATTG	0.308																																						uc003gww.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(2002-2004)TCT>TGT		GUF1 GTPase homolog							42.0	47.0	46.0					4																	44700691		2202	4298	6500	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44700691C>G		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.2003C>G	4.37:g.44700691C>G	ENSP00000281543:p.Ser668Cys					GUF1_uc011bza.1_Missense_Mutation_p.S75C	p.S668C	NM_021927	NP_068746	Q8N442	GUF1_HUMAN			17	2210	+			668						Missense_Mutation	SNP	ENST00000281543.5	37	c.2003C>G	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	C	9.913	1.210159	0.22289	.	.	ENSG00000151806	ENST00000281543	T	0.70164	-0.46	4.81	2.31	0.28768	.	0.601202	0.18005	N	0.154774	T	0.48750	0.1517	N	0.19112	0.55	0.21499	N	0.999666	P	0.39831	0.69	B	0.39185	0.293	T	0.40590	-0.9555	10	0.87932	D	0	-3.2864	7.1681	0.25702	0.7003:0.1593:0.0:0.1404	.	668	Q8N442	GUF1_HUMAN	C	668	ENSP00000281543:S668C	ENSP00000281543:S668C	S	+	2	0	GUF1	44395448	.	.	0.990000	0.47175	0.309000	0.27889	.	.	0.184000	0.20083	0.313000	0.20887	TCT		0.308	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		9	26	0	0	0	0	9	26				
RUFY3	22902	broad.mit.edu	37	4	71628306	71628306	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:71628306G>C	ENST00000226328.4	+	2	812	c.249G>C	c.(247-249)ttG>ttC	p.L83F	RUFY3_ENST00000536664.1_Missense_Mutation_p.L67F|RUFY3_ENST00000381006.3_Missense_Mutation_p.L83F|RUFY3_ENST00000417478.2_Missense_Mutation_p.L143F|RUFY3_ENST00000502653.1_Missense_Mutation_p.L30F	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	83					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TCAAGGGCTTGATTGAATCAG	0.473																																						uc003hfq.2		NA																	0					0						c.(247-249)TTG>TTC		RUN and FYVE domain containing 3 isoform 2							249.0	228.0	235.0					4																	71628306		2203	4300	6503	SO:0001583	missense	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71628306G>C	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.249G>C	4.37:g.71628306G>C	ENSP00000226328:p.Leu83Phe					RUFY3_uc003hfp.3_Missense_Mutation_p.L143F|RUFY3_uc011cax.1_Missense_Mutation_p.L101F|RUFY3_uc003hfr.2_Missense_Mutation_p.L83F|RUFY3_uc011cay.1_Missense_Mutation_p.L19F	p.L83F	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		2	844	+		all_hematologic(202;0.248)	83					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.249G>C	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204554	0.79127	.	.	ENSG00000018189	ENST00000503876;ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12	6.16	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.42131	0.1189	M	0.65677	2.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;0.999;0.99;0.989	T	0.34825	-0.9813	10	0.87932	D	0	-11.9576	10.3444	0.43897	0.1997:0.0:0.8003:0.0	.	67;83;83;143	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	F	19;143;83;83;67;19;30	ENSP00000426734:L19F;ENSP00000399771:L143F;ENSP00000370394:L83F;ENSP00000226328:L83F;ENSP00000443652:L67F;ENSP00000425574:L19F;ENSP00000425400:L30F	ENSP00000226328:L83F	L	+	3	2	RUFY3	71847170	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.507000	0.53371	1.627000	0.50400	0.650000	0.86243	TTG		0.473	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		29	200	0	0	0	0	29	200				
GK2	2712	broad.mit.edu	37	4	80328806	80328806	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:80328806G>C	ENST00000358842.3	-	1	566	c.549C>G	c.(547-549)atC>atG	p.I183M		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TCAAACTCCAGATAAGCCATG	0.403																																						uc003hlu.2		NA																	0				ovary(2)|skin(2)	4						c.(547-549)ATC>ATG		glycerol kinase 2							115.0	110.0	111.0					4																	80328806		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328806G>C	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.549C>G	4.37:g.80328806G>C	ENSP00000351706:p.Ile183Met						p.I183M	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	567	-			183					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.549C>G	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	7.783	0.709932	0.15239	.	.	ENSG00000196475	ENST00000358842	T	0.59772	0.24	3.76	3.76	0.43208	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69242	0.3089	M	0.70595	2.14	0.51482	D	0.99992	D	0.63880	0.993	D	0.69142	0.962	T	0.71137	-0.4680	10	0.72032	D	0.01	-13.4332	7.3742	0.26818	0.1159:0.0:0.8841:0.0	.	183	Q14410	GLPK2_HUMAN	M	183	ENSP00000351706:I183M	ENSP00000351706:I183M	I	-	3	3	GK2	80547830	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	0.645000	0.24782	2.418000	0.82041	0.585000	0.79938	ATC		0.403	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		4	80	0	0	0	0	4	80				
THAP9	79725	broad.mit.edu	37	4	83838784	83838784	+	Silent	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:83838784G>C	ENST00000302236.5	+	5	1470	c.1419G>C	c.(1417-1419)ctG>ctC	p.L473L	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	473					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATCATGTACTGAAAGTGAATA	0.388																																						uc003hnt.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5						c.(1417-1419)CTG>CTC		THAP domain containing 9							113.0	118.0	116.0					4																	83838784		2203	4299	6502	SO:0001819	synonymous_variant	79725						DNA binding|metal ion binding	g.chr4:83838784G>C	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1419G>C	4.37:g.83838784G>C						THAP9_uc003hns.1_Silent_p.L329L|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Silent_p.L190L	p.L473L	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN			5	1538	+		Hepatocellular(203;0.114)	473					B3KRE2|Q59AC9	Silent	SNP	ENST00000302236.5	37	c.1419G>C	CCDS3598.1																																																																																				0.388	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		21	104	0	0	0	0	21	104				
MEPE	56955	broad.mit.edu	37	4	88766888	88766888	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:88766888G>A	ENST00000424957.3	+	4	941	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	MEPE_ENST00000560249.1_Missense_Mutation_p.E177K|MEPE_ENST00000395102.4_Missense_Mutation_p.E321K|MEPE_ENST00000361056.3_Missense_Mutation_p.E290K|MEPE_ENST00000497649.2_Missense_Mutation_p.E266K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.E177K	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	290					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGGCCCAAGTGAAGCTGAGAG	0.448																																						uc003hqy.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(868-870)GAA>AAA		matrix, extracellular phosphoglycoprotein with							56.0	55.0	55.0					4																	88766888		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766888G>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.868G>A	4.37:g.88766888G>A	ENSP00000416984:p.Glu290Lys					MEPE_uc010ikn.2_Missense_Mutation_p.E177K	p.E290K	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	4	907	+		Hepatocellular(203;0.114)	290					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.868G>A	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429567	0.25726	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.99;0.97	4.7	-0.857	0.10693	.	0.771909	0.11768	N	0.531392	T	0.26738	0.0654	L	0.41632	1.29	0.09310	N	1	P	0.44478	0.836	B	0.39805	0.31	T	0.14172	-1.0482	10	0.26408	T	0.33	-10.2926	4.0179	0.09652	0.3334:0.3471:0.3195:0.0	.	290	Q9NQ76	MEPE_HUMAN	K	290;321;266;177;290	ENSP00000416984:E290K;ENSP00000378534:E321K;ENSP00000422747:E266K;ENSP00000443491:E177K;ENSP00000354341:E290K	ENSP00000354341:E290K	E	+	1	0	MEPE	88985912	0.004000	0.15560	0.000000	0.03702	0.022000	0.10575	1.290000	0.33319	-0.069000	0.12931	0.561000	0.74099	GAA		0.448	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			9	55	0	0	0	0	9	55				
FAM13A	10144	broad.mit.edu	37	4	89652580	89652580	+	Splice_Site	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:89652580C>G	ENST00000264344.5	-	23	3051		c.e23-1		FAM13A-AS1_ENST00000500765.1_RNA|FAM13A_ENST00000503556.1_Splice_Site|FAM13A_ENST00000395002.2_Splice_Site|FAM13A-AS1_ENST00000511543.1_RNA|FAM13A_ENST00000508369.1_Splice_Site|FAM13A_ENST00000511976.1_Splice_Site|FAM13A_ENST00000513837.1_Splice_Site	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GAGTTCAGGTCTAAGAGAGAG	0.398																																						uc003hse.1		NA																	0				ovary(1)|liver(1)	2						c.e23-1		family with sequence similarity 13, member A1							43.0	47.0	45.0					4																	89652580		2203	4300	6503	SO:0001630	splice_region_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89652580C>G	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2844-1G>C	4.37:g.89652580C>G						FAM13A_uc011cdp.1_Splice_Site_p.I50_splice|FAM13A_uc003hsa.1_Splice_Site_p.I391_splice|FAM13A_uc003hsb.1_Splice_Site_p.I622_splice|FAM13A_uc003hsd.1_Splice_Site_p.I594_splice|FAM13A_uc003hsc.1_Splice_Site_p.I608_splice|FAM13A_uc011cdq.1_Splice_Site_p.I594_splice|FAM13A_uc003hsf.1_Splice_Site_p.I534_splice|FAM13A_uc003hsg.1_Intron	p.I948_splice	NM_014883	NP_055698	O94988	FA13A_HUMAN			23	3052	-								B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Splice_Site	SNP	ENST00000264344.5	37	c.2844_splice	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.811853	0.70797	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5755	0.95441	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM13A	89871603	1.000000	0.71417	0.999000	0.59377	0.835000	0.47333	7.003000	0.76310	2.865000	0.98341	0.655000	0.94253	.		0.398	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		Intron	4	31	0	0	0	0	4	31				
ENPEP	2028	broad.mit.edu	37	4	111397596	111397596	+	Missense_Mutation	SNP	C	C	G	rs147278588		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:111397596C>G	ENST00000265162.5	+	1	368	c.26C>G	c.(25-27)tCt>tGt	p.S9C		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	9					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		AGAGAGGGCTCTAAGAGATAC	0.433																																						uc003iab.3		NA																	0				skin(3)|ovary(1)|breast(1)	5						c.(25-27)TCT>TGT		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)	C	CYS/SER	0,4406		0,0,2203	168.0	160.0	163.0		26	5.4	0.0	4	dbSNP_134	163	1,8599	1.2+/-3.3	0,1,4299	no	missense	ENPEP	NM_001977.3	112	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	possibly-damaging	9/958	111397596	1,13005	2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397596C>G	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.26C>G	4.37:g.111397596C>G	ENSP00000265162:p.Ser9Cys						p.S9C	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	368	+		Hepatocellular(203;0.217)	9			Cytoplasmic (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.26C>G	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638034	0.87760	0.0	1.16E-4	ENSG00000138792	ENST00000265162	T	0.01397	4.94	5.42	5.42	0.78866	.	0.638888	0.16641	N	0.205654	T	0.03390	0.0098	L	0.53249	1.67	0.09310	N	0.999991	P	0.50710	0.938	B	0.43916	0.436	T	0.34625	-0.9821	10	0.59425	D	0.04	.	19.2125	0.93763	0.0:1.0:0.0:0.0	.	9	Q07075	AMPE_HUMAN	C	9	ENSP00000265162:S9C	ENSP00000265162:S9C	S	+	2	0	ENPEP	111617045	0.150000	0.22732	0.011000	0.14972	0.754000	0.42855	5.199000	0.65152	2.552000	0.86080	0.313000	0.20887	TCT		0.433	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			17	121	0	0	0	0	17	121				
ANK2	287	broad.mit.edu	37	4	114158298	114158298	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:114158298G>C	ENST00000357077.4	+	6	692	c.639G>C	c.(637-639)caG>caC	p.Q213H	ANK2_ENST00000264366.6_Missense_Mutation_p.Q213H|ANK2_ENST00000394537.3_Missense_Mutation_p.Q213H|ANK2_ENST00000506722.1_Missense_Mutation_p.Q192H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	213					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCTGCTTCAGAATGACCACA	0.488																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(637-639)CAG>CAC		ankyrin 2 isoform 1							160.0	147.0	151.0					4																	114158298		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114158298G>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.639G>C	4.37:g.114158298G>C	ENSP00000349588:p.Gln213His					ANK2_uc003ibd.3_Missense_Mutation_p.Q192H|ANK2_uc003ibf.3_Missense_Mutation_p.Q213H|ANK2_uc003ibc.2_Missense_Mutation_p.Q189H|ANK2_uc011cgb.1_Missense_Mutation_p.Q228H	p.Q213H	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	6	739	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	213			ANK 6.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.639G>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553838	0.65425	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.64260	1.96;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.57	2.86	0.33363	Ankyrin repeat-containing domain (3);	0.000000	0.49305	D	0.000159	T	0.70116	0.3187	L	0.45137	1.4	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.995	D;D;D;D;D	0.91635	0.998;0.99;0.999;0.998;0.995	T	0.70633	-0.4818	10	0.59425	D	0.04	.	11.8226	0.52247	0.2021:0.0:0.7979:0.0	.	213;213;213;192;192	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	H	192;192;192;228;213;213;213;192	ENSP00000423799:Q192H;ENSP00000421011:Q192H;ENSP00000421067:Q192H;ENSP00000424722:Q228H;ENSP00000378044:Q213H;ENSP00000349588:Q213H;ENSP00000264366:Q213H	ENSP00000264366:Q213H	Q	+	3	2	ANK2	114377747	1.000000	0.71417	0.986000	0.45419	0.483000	0.33249	3.434000	0.52841	0.815000	0.34398	0.650000	0.86243	CAG		0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		11	125	0	0	0	0	11	125				
TNIP3	79931	broad.mit.edu	37	4	122068285	122068285	+	Silent	SNP	T	T	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:122068285T>C	ENST00000509841.1	-	10	963	c.885A>G	c.(883-885)cgA>cgG	p.R295R	TNIP3_ENST00000057513.3_Silent_p.R218R|TNIP3_ENST00000454328.1_Silent_p.R218R|TNIP3_ENST00000507879.1_Silent_p.R288R|TNIP3_ENST00000511909.1_5'UTR	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TAAGTCTCTCTCGATCCGATC	0.373																																						uc010ing.2		NA																	0				ovary(1)	1						c.(652-654)CGA>CGG		TNFAIP3 interacting protein 3							210.0	203.0	206.0					4																	122068285		2203	4300	6503	SO:0001819	synonymous_variant	79931							g.chr4:122068285T>C	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.885A>G	4.37:g.122068285T>C						TNIP3_uc010inh.2_Silent_p.R218R|TNIP3_uc011cgj.1_Silent_p.R276R	p.R218R	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN			7	850	-			218			Potential.			Silent	SNP	ENST00000509841.1	37	c.654A>G	CCDS58926.1																																																																																				0.373	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		7	70	0	0	0	0	7	70				
QRFPR	84109	broad.mit.edu	37	4	122301463	122301463	+	Splice_Site	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:122301463C>A	ENST00000394427.2	-	1	751	c.340G>T	c.(340-342)Ggt>Tgt	p.G114C	QRFPR_ENST00000334383.5_Splice_Site_p.G114C	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	114					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CGACTCTTACCCCCCAGCCAG	0.542																																						uc010inj.1		NA																	0					0						c.(340-342)GGT>TGT		G protein-coupled receptor 103							80.0	72.0	74.0					4																	122301463		2203	4300	6503	SO:0001630	splice_region_variant	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122301463C>A	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.340+1G>T	4.37:g.122301463C>A						QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.G114C|QRFPR_uc010inl.1_Missense_Mutation_p.G114C	p.G114C	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN			1	719	-			114			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000394427.2	37	c.340G>T	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761474	0.89932	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.51325	0.71;0.71	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.046276	0.85682	D	0.000000	T	0.78368	0.4272	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.996	D;D;D	0.97110	1.0;0.995;0.992	D	0.85210	0.1020	9	.	.	.	.	18.2778	0.90088	0.0:1.0:0.0:0.0	.	114;114;114	F2Z3L3;Q96P65;G4XH69	.;QRFPR_HUMAN;.	C	114	ENSP00000377948:G114C;ENSP00000335610:G114C	.	G	-	1	0	QRFPR	122520913	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.483000	0.81158	2.383000	0.81215	0.467000	0.42956	GGT		0.542	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179	Missense_Mutation	12	73	1	0	0.000978159	0.00103547	12	73				
MFSD8	256471	broad.mit.edu	37	4	128842692	128842692	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:128842692C>A	ENST00000296468.3	-	12	1464	c.1337G>T	c.(1336-1338)gGa>gTa	p.G446V	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.G401V	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	446					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AGGTTTTGGTCCTAGAATTTT	0.378																																						uc003ifp.2		NA																	0				ovary(1)|liver(1)	2						c.(1336-1338)GGA>GTA		major facilitator superfamily domain containing							61.0	68.0	66.0					4																	128842692		2203	4300	6503	SO:0001583	missense	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128842692C>A	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1337G>T	4.37:g.128842692C>A	ENSP00000296468:p.Gly446Val					MFSD8_uc011cgu.1_Missense_Mutation_p.G401V|MFSD8_uc011cgv.1_3'UTR	p.G446V	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN			12	1500	-			446			Cytoplasmic (Potential).		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.1337G>T	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298104	0.81025	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	T;T	0.80033	-1.33;-1.33	5.17	5.17	0.71159	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92068	0.5662	10	0.87932	D	0	-14.3817	18.8508	0.92227	0.0:1.0:0.0:0.0	.	446	Q8NHS3	MFSD8_HUMAN	V	446;401	ENSP00000296468:G446V;ENSP00000425000:G401V	ENSP00000296468:G446V	G	-	2	0	MFSD8	129062142	1.000000	0.71417	0.991000	0.47740	0.961000	0.63080	6.825000	0.75293	2.687000	0.91594	0.561000	0.74099	GGA		0.378	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		6	50	1	0	0.00116845	0.0012321	6	50				
MAML3	55534	broad.mit.edu	37	4	140811093	140811093	+	Silent	SNP	C	C	T	rs574825040|rs544518608|rs58287721	byFrequency	TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:140811093C>T	ENST00000509479.2	-	2	2353	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	MAML3_ENST00000327122.5_Silent_p.Q343Q|MAML3_ENST00000398940.1_Intron	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)					gctgctgctgctgctgctgct	0.527													c|||	4	0.000798722	0.0008	0.0029	5008	,	,		15568	0.0		0.001	False		,,,				2504	0.0					uc003ihz.1		NA																	0				ovary(1)	1						c.(1495-1497)CAG>CAA		mastermind-like 3							15.0	22.0	20.0					4																	140811093		2118	4262	6380	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.chr4:140811093C>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.1497G>A	4.37:g.140811093C>T						MAML3_uc011chd.1_Intron	p.Q499Q	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN			2	2249	-	all_hematologic(180;0.162)		499			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1497G>A	CCDS54805.1																																																																																				0.527	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			3	46	0	0	0	0	3	46				
GLRB	2743	broad.mit.edu	37	4	158057783	158057783	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:158057783C>T	ENST00000264428.4	+	5	730	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	GLRB_ENST00000509282.1_Missense_Mutation_p.H154Y|GLRB_ENST00000541722.1_Missense_Mutation_p.H154Y|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	154					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)	p.H154Y(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TGCCAATTTTCATGATGTGAC	0.353																																						uc003ipj.2		NA																	1	Substitution - Missense(1)		skin(1)	skin(2)	2						c.(460-462)CAT>TAT		glycine receptor, beta isoform A precursor	Glycine(DB00145)						114.0	118.0	117.0					4																	158057783		2203	4300	6503	SO:0001583	missense	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158057783C>T	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.460C>T	4.37:g.158057783C>T	ENSP00000264428:p.His154Tyr						p.H154Y	NM_000824	NP_000815	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	5	662	+	all_hematologic(180;0.24)	Renal(120;0.0458)	154			Extracellular (Probable).		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	c.460C>T	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432065	0.83776	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.80033	-1.33;-1.33;-1.33	5.34	4.5	0.54988	Neurotransmitter-gated ion-channel ligand-binding (3);	0.048262	0.85682	D	0.000000	D	0.91710	0.7379	M	0.93507	3.425	0.58432	D	0.999998	D	0.69078	0.997	D	0.79108	0.992	D	0.93426	0.6781	10	0.87932	D	0	.	13.7596	0.62956	0.0:0.9257:0.0:0.0743	.	154	P48167	GLRB_HUMAN	Y	154	ENSP00000264428:H154Y;ENSP00000441873:H154Y;ENSP00000427186:H154Y	ENSP00000264428:H154Y	H	+	1	0	GLRB	158277233	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	1.240000	0.43803	0.557000	0.71058	CAT		0.353	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		17	106	0	0	0	0	17	106				
FAT1	2195	broad.mit.edu	37	4	187532590	187532590	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:187532590G>C	ENST00000441802.2	-	14	10012	c.9803C>G	c.(9802-9804)tCa>tGa	p.S3268*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3268	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTTATTATTGAGTAGGTGAT	0.403										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(9802-9804)TCA>TGA		FAT tumor suppressor 1 precursor							41.0	41.0	41.0					4																	187532590		1879	4132	6011	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187532590G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9803C>G	4.37:g.187532590G>C	ENSP00000406229:p.Ser3268*	HNSCC(5;0.00058)					p.S3268*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			14	9991	-			3268			Extracellular (Potential).|Cadherin 30.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.9803C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	51	18.111575	0.99899	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.45	4.62	0.57501	.	0.702006	0.14353	N	0.324970	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	9.3215	0.37966	0.072:0.0:0.7846:0.1434	.	.	.	.	X	3268;3270	.	ENSP00000260147:S3270X	S	-	2	0	FAT1	187769584	0.455000	0.25736	0.275000	0.24674	0.886000	0.51366	2.251000	0.43187	1.541000	0.49316	-0.145000	0.13849	TCA		0.403	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	27	0	0	0	0	7	27				
FAT1	2195	broad.mit.edu	37	4	187539227	187539227	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:187539227G>C	ENST00000441802.2	-	10	8722	c.8513C>G	c.(8512-8514)tCa>tGa	p.S2838*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2838	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTGGTTCCTGAGTCAGCATC	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(8512-8514)TCA>TGA		FAT tumor suppressor 1 precursor							112.0	105.0	107.0					4																	187539227		1944	4162	6106	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539227G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8513C>G	4.37:g.187539227G>C	ENSP00000406229:p.Ser2838*	HNSCC(5;0.00058)					p.S2838*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	8701	-			2838			Extracellular (Potential).|Cadherin 26.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.8513C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	49	15.771365	0.99844	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.86	4.0	0.46444	.	0.137780	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	8.9617	0.35851	0.0779:0.1505:0.7716:0.0	.	.	.	.	X	2838;2840	.	ENSP00000260147:S2840X	S	-	2	0	FAT1	187776221	1.000000	0.71417	0.597000	0.28824	0.658000	0.38924	4.665000	0.61547	1.364000	0.46038	0.650000	0.86243	TCA		0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		15	106	0	0	0	0	15	106				
FAT1	2195	broad.mit.edu	37	4	187629184	187629184	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:187629184G>A	ENST00000441802.2	-	2	2007	c.1798C>T	c.(1798-1800)Cag>Tag	p.Q600*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	600	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTACCAACTGAAGTTCATCT	0.408										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(1798-1800)CAG>TAG		FAT tumor suppressor 1 precursor							69.0	64.0	65.0					4																	187629184		1875	4107	5982	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629184G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1798C>T	4.37:g.187629184G>A	ENSP00000406229:p.Gln600*	HNSCC(5;0.00058)				FAT1_uc010iso.1_Nonsense_Mutation_p.Q600*	p.Q600*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	1986	-			600			Extracellular (Potential).|Cadherin 5.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.1798C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	38	7.113549	0.98074	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	19.3673	0.94469	0.0:0.0:1.0:0.0	.	.	.	.	X	600	.	ENSP00000260147:Q600X	Q	-	1	0	FAT1	187866178	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	7.701000	0.84566	2.805000	0.96524	0.655000	0.94253	CAG		0.408	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		6	41	0	0	0	0	6	41				
DNAH5	1767	broad.mit.edu	37	5	13841896	13841896	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:13841896G>C	ENST00000265104.4	-	33	5493	c.5389C>G	c.(5389-5391)Cag>Gag	p.Q1797E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1797	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATGAGGACTGAGATTCTTCC	0.438									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5389-5391)CAG>GAG		dynein, axonemal, heavy chain 5							123.0	122.0	123.0					5																	13841896		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841896G>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5389C>G	5.37:g.13841896G>C	ENSP00000265104:p.Gln1797Glu						p.Q1797E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			33	5431	-	Lung NSC(4;0.00476)		1797			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5389C>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119002	0.37436	.	.	ENSG00000039139	ENST00000265104	T	0.60548	0.18	5.82	4.94	0.65067	Dynein heavy chain, domain-2 (1);	0.113691	0.64402	D	0.000009	T	0.71005	0.3289	M	0.88640	2.97	0.58432	D	0.999998	B	0.26002	0.139	B	0.37731	0.257	T	0.73075	-0.4097	10	0.56958	D	0.05	.	16.299	0.82800	0.0:0.0:0.8665:0.1334	.	1797	Q8TE73	DYH5_HUMAN	E	1797	ENSP00000265104:Q1797E	ENSP00000265104:Q1797E	Q	-	1	0	DNAH5	13894896	1.000000	0.71417	1.000000	0.80357	0.146000	0.21551	6.718000	0.74713	1.444000	0.47605	-0.182000	0.12963	CAG		0.438	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		7	50	0	0	0	0	7	50				
DNAH5	1767	broad.mit.edu	37	5	13883188	13883188	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:13883188G>A	ENST00000265104.4	-	20	3103	c.2999C>T	c.(2998-3000)tCt>tTt	p.S1000F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1000	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTCATGTTAGAGGCACTGTT	0.418									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(2998-3000)TCT>TTT		dynein, axonemal, heavy chain 5							102.0	97.0	98.0					5																	13883188		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13883188G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2999C>T	5.37:g.13883188G>A	ENSP00000265104:p.Ser1000Phe						p.S1000F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			20	3041	-	Lung NSC(4;0.00476)		1000			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.2999C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	6.770	0.511056	0.12883	.	.	ENSG00000039139	ENST00000265104	T	0.24723	1.84	6.03	5.15	0.70609	.	0.386358	0.30151	N	0.010300	T	0.15089	0.0364	N	0.08118	0	0.09310	N	0.999999	B	0.23128	0.08	B	0.26614	0.071	T	0.19778	-1.0295	10	0.56958	D	0.05	.	11.4218	0.49987	0.0672:0.1275:0.8053:0.0	.	1000	Q8TE73	DYH5_HUMAN	F	1000	ENSP00000265104:S1000F	ENSP00000265104:S1000F	S	-	2	0	DNAH5	13936188	0.722000	0.28017	0.015000	0.15790	0.352000	0.29268	1.725000	0.38074	1.524000	0.49035	0.557000	0.71058	TCT		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		13	92	0	0	0	0	13	92				
LMBRD2	92255	broad.mit.edu	37	5	36122518	36122518	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:36122518C>A	ENST00000296603.4	-	9	1446	c.984G>T	c.(982-984)caG>caT	p.Q328H		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	328						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAAAAGAATCTGCCATTGTA	0.408																																						uc003jkb.1		NA																	0					0						c.(982-984)CAG>CAT		LMBR1 domain containing 2							94.0	90.0	91.0					5																	36122518		2203	4300	6503	SO:0001583	missense	92255					integral to membrane		g.chr5:36122518C>A		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.984G>T	5.37:g.36122518C>A	ENSP00000296603:p.Gln328His						p.Q328H	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		9	1399	-	all_lung(31;0.000146)		328			Cytoplasmic (Potential).		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.984G>T	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325681	0.41197	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.30182	1.54	5.6	-9.42	0.00610	LMBR1-like membrane protein (1);	0.379952	0.27558	N	0.018833	T	0.24044	0.0582	L	0.38531	1.155	0.34417	D	0.697043	B	0.30793	0.295	B	0.41299	0.353	T	0.33007	-0.9885	10	0.42905	T	0.14	-8.8122	13.9919	0.64372	0.0:0.1108:0.1569:0.7323	.	328	Q68DH5	LMBD2_HUMAN	H	328;222	ENSP00000296603:Q328H	ENSP00000296603:Q328H	Q	-	3	2	LMBRD2	36158275	0.000000	0.05858	0.501000	0.27601	0.979000	0.70002	-1.989000	0.01480	-1.801000	0.01245	-1.223000	0.01593	CAG		0.408	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		4	40	1	0	0.00909568	0.00940813	4	40				
TTC33	23548	broad.mit.edu	37	5	40747077	40747077	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:40747077G>C	ENST00000337702.4	-	2	196	c.44C>G	c.(43-45)tCa>tGa	p.S15*	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	15										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AGTGACCTTTGAGACCTTCTC	0.388																																						uc003jma.2		NA																	0				ovary(1)	1						c.(43-45)TCA>TGA		tetratricopeptide repeat domain 33							93.0	83.0	86.0					5																	40747077		2203	4300	6503	SO:0001587	stop_gained	23548						binding	g.chr5:40747077G>C	BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.44C>G	5.37:g.40747077G>C	ENSP00000338533:p.Ser15*					TTC33_uc011cpm.1_5'UTR|TTC33_uc010ivg.2_Nonsense_Mutation_p.S15*	p.S15*	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN			2	192	-			15					B2R6G0|O95105	Nonsense_Mutation	SNP	ENST00000337702.4	37	c.44C>G	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	G	37	6.419111	0.97550	.	.	ENSG00000113638	ENST00000337702	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-8.6914	19.7329	0.96190	0.0:0.0:1.0:0.0	.	.	.	.	X	15	.	ENSP00000338533:S15X	S	-	2	0	TTC33	40782834	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.322000	0.96357	2.663000	0.90544	0.655000	0.94253	TCA		0.388	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382		6	46	0	0	0	0	6	46				
C6	729	broad.mit.edu	37	5	41203191	41203191	+	Splice_Site	SNP	T	T	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:41203191T>C	ENST00000263413.3	-	2	406	c.142A>G	c.(142-144)Aga>Gga	p.R48G	C6_ENST00000337836.5_Splice_Site_p.R48G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	48	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACACCCACCTGTGTCTGCTC	0.478																																						uc003jmk.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(142-144)AGA>GGA		complement component 6 precursor							210.0	216.0	214.0					5																	41203191		2203	4300	6503	SO:0001630	splice_region_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41203191T>C	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.143+1A>G	5.37:g.41203191T>C						C6_uc003jml.1_Missense_Mutation_p.R48G	p.R48G	NM_000065	NP_000056	P13671	CO6_HUMAN			2	352	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	48			TSP type-1 1.			Missense_Mutation	SNP	ENST00000263413.3	37	c.142A>G	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881125	0.72294	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809	T;T;T	0.65364	-0.15;-0.15;-0.15	5.81	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.87164	0.6109	H	0.99555	4.625	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	D	0.91041	0.4871	10	0.87932	D	0	-23.6411	11.2778	0.49176	0.0:0.0:0.2823:0.7177	.	48	P13671	CO6_HUMAN	G	48	ENSP00000338861:R48G;ENSP00000263413:R48G;ENSP00000396565:R48G	ENSP00000263413:R48G	R	-	1	2	C6	41238948	0.982000	0.34865	0.996000	0.52242	0.740000	0.42216	1.938000	0.40203	2.211000	0.71520	0.477000	0.44152	AGA		0.478	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		Missense_Mutation	6	238	0	0	0	0	6	238				
BTF3	689	broad.mit.edu	37	5	72798854	72798854	+	Silent	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:72798854G>C	ENST00000335895.8	+	4	448	c.297G>C	c.(295-297)ctG>ctC	p.L99L	BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000380591.3_Silent_p.L143L	NM_001207.4	NP_001198.2	O00478	BT3A3_HUMAN	basic transcription factor 3	301	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		CAAAGCAGCTGACAGAAATGC	0.473																																						uc003kcr.1		NA																	0					0						c.(427-429)CTG>CTC		basic transcription factor 3 isoform A							82.0	83.0	83.0					5																	72798854		2203	4300	6503	SO:0001819	synonymous_variant	689				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding	g.chr5:72798854G>C	M90352	CCDS4019.1, CCDS34185.1	5q13.3	2010-06-17			ENSG00000145741	ENSG00000145741			1125	protein-coding gene	gene with protein product		602542	"""nascent-polypeptide-associated complex beta polypeptide"""	NACB		2320128, 1386332, 15716105	Standard	NM_001207		Approved	BTF3a, BTF3b	uc003kcr.1	P20290	OTTHUMG00000102031	ENST00000335895.8:c.297G>C	5.37:g.72798854G>C						BTF3_uc003kcq.1_Silent_p.L99L|BTF3_uc003kcs.1_RNA|BTF3_uc003kct.1_RNA	p.L143L	NM_001037637	NP_001032726	P20290	BTF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)	4	672	+		Lung NSC(167;0.00405)|Ovarian(174;0.0175)	143			NAC-A/B.		B4DWI7|E9PCP5	Silent	SNP	ENST00000335895.8	37	c.429G>C	CCDS4019.1																																																																																				0.473	BTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219815.2	NM_001207		15	86	0	0	0	0	15	86				
REEP5	7905	broad.mit.edu	37	5	112256898	112256898	+	Silent	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:112256898G>C	ENST00000379638.4	-	2	522	c.174C>G	c.(172-174)ctC>ctG	p.L58L	REEP5_ENST00000504247.1_Silent_p.L58L|REEP5_ENST00000474542.2_5'UTR|REEP5_ENST00000545426.1_Silent_p.L58L|REEP5_ENST00000513339.1_Silent_p.L58L	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	58						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		TCAGGTTGCAGAGGAGAGAGG	0.597																																						uc003kqe.1		NA																	0					0						c.(172-174)CTC>CTG		receptor accessory protein 5							123.0	103.0	110.0					5																	112256898		2202	4300	6502	SO:0001819	synonymous_variant	7905					integral to membrane	protein binding	g.chr5:112256898G>C	BC000232	CCDS4109.2	5q22-q23	2008-02-05	2006-02-07	2006-02-07	ENSG00000129625	ENSG00000129625		"""Receptor accessory proteins"""	30077	protein-coding gene	gene with protein product	"""deleted in polyposis 1"", ""polyposis locus protein 1"", ""polyposis coli region hypothetical protein DP1"""	125265	"""chromosome 5 open reading frame 18"""	C5orf18		16271481, 15550249	Standard	NM_005669		Approved	DP1, TB2, D5S346	uc003kqe.1	Q00765	OTTHUMG00000128807	ENST00000379638.4:c.174C>G	5.37:g.112256898G>C						REEP5_uc011cvw.1_Silent_p.L31L|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Silent_p.L58L|REEP5_uc011cvz.1_RNA	p.L58L	NM_005669	NP_005660	Q00765	REEP5_HUMAN		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)	2	318	-		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	58					B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9	Silent	SNP	ENST00000379638.4	37	c.174C>G	CCDS4109.2																																																																																				0.597	REEP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250739.2	NM_005669		7	43	0	0	0	0	7	43				
HSD17B4	3295	broad.mit.edu	37	5	118832266	118832266	+	Silent	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:118832266G>C	ENST00000256216.6	+	12	1030	c.897G>C	c.(895-897)ctG>ctC	p.L299L	HSD17B4_ENST00000509514.1_Silent_p.L37L|HSD17B4_ENST00000504811.1_Silent_p.L324L|HSD17B4_ENST00000513628.1_Silent_p.L162L|HSD17B4_ENST00000414835.2_Silent_p.L159L|HSD17B4_ENST00000510025.1_Silent_p.L275L|HSD17B4_ENST00000515320.1_Silent_p.L281L	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	299	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TTGAAGTTCTGAGTAAAATAG	0.333																																					Colon(35;490 801 34689 41394 43344)	uc003ksj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(895-897)CTG>CTC		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						109.0	117.0	114.0					5																	118832266		2202	4300	6502	SO:0001819	synonymous_variant	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118832266G>C		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.897G>C	5.37:g.118832266G>C						HSD17B4_uc011cwg.1_Silent_p.L275L|HSD17B4_uc011cwh.1_Silent_p.L281L|HSD17B4_uc011cwi.1_Silent_p.L324L|HSD17B4_uc003ksk.3_Silent_p.L152L|HSD17B4_uc011cwj.1_Silent_p.L152L|HSD17B4_uc010jcn.1_Silent_p.L37L	p.L299L	NM_000414	NP_000405	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	12	1020	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	299			(3R)-hydroxyacyl-CoA dehydrogenase.		B4DNV1|B4DVS5|E9PB82|F5HE57	Silent	SNP	ENST00000256216.6	37	c.897G>C	CCDS4126.1																																																																																				0.333	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		8	115	0	0	0	0	8	115				
RAD50	10111	broad.mit.edu	37	5	131930643	131930643	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:131930643G>A	ENST00000265335.6	+	12	2263	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	RAD50_ENST00000378823.3_Missense_Mutation_p.E487K			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	626					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCCAGTTACGAAGACAAGCT	0.338								Homologous recombination																														uc003kxi.2		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(1876-1878)GAA>AAA	Homologous_recombination	RAD50 homolog isoform 1							94.0	101.0	98.0					5																	131930643		2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131930643G>A	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1876G>A	5.37:g.131930643G>A	ENSP00000265335:p.Glu626Lys					RAD50_uc003kxh.2_Missense_Mutation_p.E487K	p.E626K	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	2263	+		all_cancers(142;0.0368)|Breast(839;0.198)	626					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.1876G>A	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180918	0.78677	.	.	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.08282	3.47;3.71;3.11	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.09555	0.0235	L	0.50919	1.6	0.80722	D	1	P	0.37824	0.609	B	0.28465	0.09	T	0.28427	-1.0044	10	0.18276	T	0.48	-25.3198	20.3632	0.98871	0.0:0.0:1.0:0.0	.	626	Q92878	RAD50_HUMAN	K	487;626;565	ENSP00000368100:E487K;ENSP00000265335:E626K;ENSP00000400049:E565K	ENSP00000265335:E626K	E	+	1	0	RAD50	131958542	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.903000	0.87398	2.826000	0.97356	0.561000	0.74099	GAA		0.338	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		12	63	0	0	0	0	12	63				
PCDHA2	56146	broad.mit.edu	37	5	140176795	140176795	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:140176795C>T	ENST00000526136.1	+	1	2246	c.2246C>T	c.(2245-2247)tCt>tTt	p.S749F	PCDHA2_ENST00000520672.2_Missense_Mutation_p.S749F|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.S749F	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	749	5 X 4 AA repeats of P-X-X-P.				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)	p.S749Y(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCTGGTCTTACTCGCAG	0.672																																						uc003lhd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2245-2247)TCT>TTT		protocadherin alpha 2 isoform 1 precursor							44.0	47.0	46.0					5																	140176795		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140176795C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2246C>T	5.37:g.140176795C>T	ENSP00000431748:p.Ser749Phe					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.S749F|PCDHA2_uc011czy.1_Missense_Mutation_p.S749F	p.S749F	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2352	+			749			Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2246C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	15.30	2.792666	0.50102	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.80994	-1.44;-1.44;-1.44	4.0	4.0	0.46444	.	0.000000	0.34603	U	0.003839	D	0.86965	0.6060	M	0.94021	3.485	0.31646	N	0.647454	B;P;P	0.42456	0.436;0.78;0.681	B;B;B	0.43225	0.303;0.349;0.412	D	0.91094	0.4909	10	0.87932	D	0	.	16.0604	0.80836	0.0:1.0:0.0:0.0	.	749;749;749	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	F	749	ENSP00000430584:S749F;ENSP00000367372:S749F;ENSP00000431748:S749F	ENSP00000367372:S749F	S	+	2	0	PCDHA2	140156979	0.772000	0.28567	0.960000	0.40013	0.265000	0.26407	2.341000	0.43983	1.944000	0.56390	0.585000	0.79938	TCT		0.672	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		19	77	0	0	0	0	19	77				
PCDHA13	56136	broad.mit.edu	37	5	140263342	140263342	+	Missense_Mutation	SNP	C	C	T	rs369534214		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:140263342C>T	ENST00000289272.2	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R497W|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.662																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1489-1491)CGG>TGG		protocadherin alpha 13 isoform 1 precursor							63.0	67.0	65.0					5																	140263342		2202	4299	6501	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263342C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1489C>T	5.37:g.140263342C>T	ENSP00000289272:p.Arg497Trp					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.R497W|PCDHA13_uc003lid.2_Missense_Mutation_p.R497W	p.R497W	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1489	+			497			Cadherin 5.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1489C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741815	0.49151	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.52295	0.67;0.67	4.62	2.78	0.32641	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61035	0.2315	L	0.51422	1.61	0.09310	N	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.964;0.939	T	0.51795	-0.8660	9	0.87932	D	0	.	11.4111	0.49925	0.4746:0.5253:0.0:0.0	.	497;497;497	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	W	497	ENSP00000386821:R497W;ENSP00000289272:R497W	ENSP00000289272:R497W	R	+	1	2	PCDHA13	140243526	0.008000	0.16893	1.000000	0.80357	0.892000	0.51952	0.108000	0.15396	0.523000	0.28482	-0.323000	0.08544	CGG		0.662	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		12	85	0	0	0	0	12	85				
PCDHGB2	56103	broad.mit.edu	37	5	140741419	140741419	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:140741419G>A	ENST00000522605.1	+	1	1717	c.1717G>A	c.(1717-1719)Gcc>Acc	p.A573T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	573	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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATGGCTCCGCCCTCTTCGA	0.667																																						uc003ljs.1		NA																	0					0						c.(1717-1719)GCC>ACC		protocadherin gamma subfamily B, 2 isoform 1							20.0	24.0	23.0					5																	140741419		1938	4113	6051	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741419G>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1717G>A	5.37:g.140741419G>A	ENSP00000429018:p.Ala573Thr					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.A573T|PCDHGA5_uc011das.1_5'Flank	p.A573T	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1717	+			573			Extracellular (Potential).|Cadherin 6.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1717G>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	8.324	0.825052	0.16678	.	.	ENSG00000253910	ENST00000522605	T	0.58358	0.34	5.13	5.13	0.70059	Cadherin-like (1);	.	.	.	.	T	0.43809	0.1264	L	0.34521	1.04	0.31732	N	0.636931	D;D	0.61080	0.984;0.989	P;P	0.48454	0.481;0.578	T	0.35475	-0.9787	9	0.02654	T	1	.	13.0436	0.58915	0.0792:0.0:0.9208:0.0	.	573;573	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	T	573	ENSP00000429018:A573T	ENSP00000429018:A573T	A	+	1	0	PCDHGB2	140721603	0.000000	0.05858	0.965000	0.40720	0.712000	0.41017	-0.081000	0.11321	2.555000	0.86185	0.454000	0.30748	GCC		0.667	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		12	54	0	0	0	0	12	54				
PCDHGB3	56102	broad.mit.edu	37	5	140779485	140779485	+	Intron	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:140779485C>T	ENST00000576222.1	+	1	2546				PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGACACAACGCCTGGCTGT	0.677																																						uc003lkf.1		NA																	0					0						c.(1789-1791)AAC>AAT		protocadherin gamma subfamily B, 5 isoform 1							32.0	38.0	36.0					5																	140779485		2175	4282	6457	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140779485C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+27109C>T	5.37:g.140779485C>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_uc011daw.1_Silent_p.N597N	p.N597N	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1791	+			597			Cadherin 6.|Extracellular (Potential).		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1791C>T	CCDS58980.1																																																																																				0.677	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		12	71	0	0	0	0	12	71				
RELL2	285613	broad.mit.edu	37	5	141019745	141019745	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:141019745G>A	ENST00000297164.3	+	5	1962	c.762G>A	c.(760-762)ggG>ggA	p.G254G	RELL2_ENST00000518856.1_Silent_p.G188G|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000444782.1_Silent_p.G254G|RELL2_ENST00000521367.1_Silent_p.G188G|RELL2_ENST00000518025.1_3'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	254					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTTGAAGGGAACCCCAGAG	0.647																																						uc003lli.2		NA																	0					0						c.(760-762)GGG>GGA		RELT-like 2							54.0	53.0	53.0					5																	141019745		2203	4299	6502	SO:0001819	synonymous_variant	285613					integral to membrane|plasma membrane		g.chr5:141019745G>A	AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.762G>A	5.37:g.141019745G>A						RELL2_uc003llh.2_Silent_p.G254G|RELL2_uc003llg.2_Silent_p.G188G|RELL2_uc010jgf.2_Silent_p.G188G|FCHSD1_uc010jgg.2_3'UTR|FCHSD1_uc003llj.2_RNA|FCHSD1_uc003llk.2_3'UTR	p.G254G	NM_001130029	NP_001123501	Q8NC24	RELL2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1610	+			254					D3DQE2|Q6P4E7|Q6UXY2	Silent	SNP	ENST00000297164.3	37	c.762G>A	CCDS4265.1																																																																																				0.647	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828		4	58	0	0	0	0	4	58				
STK32A	202374	broad.mit.edu	37	5	146750271	146750271	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:146750271G>C	ENST00000397936.3	+	9	1048	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	STK32A_ENST00000398523.3_Missense_Mutation_p.E239Q	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACACGTTTGAGACGACTGT	0.398																																						uc010jgn.1		NA																	0				lung(2)|skin(1)	3						c.(715-717)GAG>CAG		serine/threonine kinase 32A isoform 1							196.0	170.0	178.0					5																	146750271		1568	3582	5150	SO:0001583	missense	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146750271G>C		CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.715G>C	5.37:g.146750271G>C	ENSP00000381030:p.Glu239Gln					STK32A_uc003lom.2_Missense_Mutation_p.E239Q|STK32A_uc011dbw.1_Missense_Mutation_p.E239Q	p.E239Q	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	995	+			239			Protein kinase.		B3KSY0	Missense_Mutation	SNP	ENST00000397936.3	37	c.715G>C	CCDS47299.1	.	.	.	.	.	.	.	.	.	.	G	5.693	0.312427	0.10789	.	.	ENSG00000169302	ENST00000397936;ENST00000398523	T;T	0.65178	-0.14;-0.14	5.52	3.61	0.41365	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.277677	0.25720	N	0.028756	T	0.39835	0.1093	N	0.21282	0.65	0.80722	D	1	B;B;B	0.14438	0.008;0.01;0.003	B;B;B	0.18263	0.007;0.021;0.004	T	0.22730	-1.0208	10	0.12766	T	0.61	.	5.5308	0.16983	0.1429:0.3406:0.5165:0.0	.	239;239;239	B7Z9H7;Q8WU08;Q8WU08-3	.;ST32A_HUMAN;.	Q	239	ENSP00000381030:E239Q;ENSP00000381535:E239Q	ENSP00000381030:E239Q	E	+	1	0	STK32A	146730464	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	2.038000	0.41184	2.761000	0.94854	0.655000	0.94253	GAG		0.398	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001		9	131	0	0	0	0	9	131				
GCNT2	2651	broad.mit.edu	37	6	10529667	10529667	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:10529667G>A	ENST00000379597.3	+	1	1079	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	GCNT2_ENST00000495262.1_Missense_Mutation_p.E175K|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	175					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GAACTGCCTGGAAGACCTTGT	0.507																																						uc010joo.2		NA																	0				ovary(2)	2						c.(523-525)GAA>AAA		glucosaminyl (N-acetyl) transferase 2,							41.0	42.0	42.0					6																	10529667		2203	4300	6503	SO:0001583	missense	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529667G>A	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.523G>A	6.37:g.10529667G>A	ENSP00000368917:p.Glu175Lys					GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Missense_Mutation_p.E174K|GCNT2_uc010jon.2_Missense_Mutation_p.E174K	p.E175K	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	3	1074	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	175			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000379597.3	37	c.523G>A	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.676617	0.00751	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	T;T	0.10288	2.89;2.89	5.47	-4.49	0.03504	.	0.944757	0.08892	N	0.878505	T	0.00637	0.0021	N	0.01438	-0.865	0.23984	N	0.996266	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.46541	-0.9184	10	0.02654	T	1	-9.4837	7.2524	0.26156	0.4654:0.3057:0.2288:0.0	.	175;174	Q8N0V5;Q08M29	GNT2A_HUMAN;.	K	175	ENSP00000419411:E175K;ENSP00000368917:E175K	ENSP00000368917:E175K	E	+	1	0	GCNT2	10637653	0.022000	0.18835	0.000000	0.03702	0.004000	0.04260	0.372000	0.20467	-1.129000	0.02918	-1.208000	0.01637	GAA		0.507	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		21	39	0	0	0	0	21	39				
OR2J3	442186	broad.mit.edu	37	6	29079743	29079743	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:29079743C>G	ENST00000377169.1	+	1	76	c.76C>G	c.(76-78)Ctg>Gtg	p.L26V		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTGGCCTCATCTGGAAGTAGT	0.383																																						uc011dll.1		NA																	0					0						c.(76-78)CTG>GTG		olfactory receptor, family 2, subfamily J,							248.0	258.0	254.0					6																	29079743		1212	2531	3743	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29079743C>G		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.76C>G	6.37:g.29079743C>G	ENSP00000366374:p.Leu26Val						p.L26V	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			1	76	+			26			Extracellular (Potential).		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.76C>G	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	3.897	-0.022833	0.07634	.	.	ENSG00000204701	ENST00000377169	T	0.02812	4.15	2.95	2.06	0.26882	.	.	.	.	.	T	0.01661	0.0053	M	0.72624	2.21	0.09310	N	1	B	0.25850	0.136	B	0.29440	0.102	T	0.40627	-0.9553	9	0.87932	D	0	.	6.1654	0.20388	0.1828:0.709:0.0:0.1082	.	26	O76001	OR2J3_HUMAN	V	26	ENSP00000366374:L26V	ENSP00000366374:L26V	L	+	1	2	OR2J3	29187722	0.000000	0.05858	0.998000	0.56505	0.026000	0.11368	-1.291000	0.02775	0.565000	0.29255	0.436000	0.28706	CTG		0.383	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			33	109	0	0	0	0	33	109				
MDC1	9656	broad.mit.edu	37	6	30671732	30671732	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:30671732G>C	ENST00000376406.3	-	10	5875	c.5228C>G	c.(5227-5229)tCt>tGt	p.S1743C	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S1479C	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1743	Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CAAGGGTGCAGAGCAAGGCTT	0.562								Other conserved DNA damage response genes																														uc003nrg.3		NA																	0				breast(2)|ovary(1)|kidney(1)	4						c.(5227-5229)TCT>TGT	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							56.0	58.0	57.0					6																	30671732		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30671732G>C	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5228C>G	6.37:g.30671732G>C	ENSP00000365588:p.Ser1743Cys					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S1350C	p.S1743C	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	5668	-			1743			Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.5228C>G	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043333	0.36085	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.05925	3.37;3.37	4.83	3.95	0.45737	.	0.424514	0.17622	N	0.167688	T	0.04588	0.0125	M	0.73962	2.25	0.09310	N	1	P;P	0.37663	0.475;0.604	B;B	0.37780	0.258;0.242	T	0.12604	-1.0541	10	0.52906	T	0.07	-3.1914	11.8898	0.52622	0.0:0.1762:0.8238:0.0	.	1479;1743	Q14676-2;Q14676	.;MDC1_HUMAN	C	1743;1479;1456;1309	ENSP00000365588:S1743C;ENSP00000365587:S1479C	ENSP00000365587:S1479C	S	-	2	0	MDC1	30779711	0.010000	0.17322	0.002000	0.10522	0.197000	0.23852	1.600000	0.36762	1.360000	0.45960	0.555000	0.69702	TCT		0.562	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		19	66	0	0	0	0	19	66				
PSORS1C2	170680	broad.mit.edu	37	6	31106763	31106763	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:31106763C>A	ENST00000259845.4	-	1	364	c.41G>T	c.(40-42)tGc>tTc	p.C14F	PSORS1C1_ENST00000481450.2_Intron|PSORS1C1_ENST00000547221.1_Intron|PSORS1C1_ENST00000259881.9_Intron	NM_014069.2	NP_054788.2	Q9UIG4	PS1C2_HUMAN	psoriasis susceptibility 1 candidate 2	14						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGTGTGCAGGCAAAGGACCAG	0.597																																						uc003nso.3		NA																	0					0						c.(40-42)TGC>TTC		SPR1 protein precursor							125.0	105.0	111.0					6																	31106763		2203	4300	6503	SO:0001583	missense	170680					extracellular region		g.chr6:31106763C>A	AB031480	CCDS4694.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204538	ENSG00000204538			17199	protein-coding gene	gene with protein product		613526	"""chromosome 6 open reading frame 17"""	C6orf17			Standard	NM_014069		Approved	SPR1	uc003nso.4	Q9UIG4	OTTHUMG00000031081	ENST00000259845.4:c.41G>T	6.37:g.31106763C>A	ENSP00000259845:p.Cys14Phe					PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron|PSORS1C1_uc003nsn.1_Intron	p.C14F	NM_014069	NP_054788	Q9UIG4	PS1C2_HUMAN			1	365	-			14					Q5STD0	Missense_Mutation	SNP	ENST00000259845.4	37	c.41G>T	CCDS4694.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388123	0.25118	.	.	ENSG00000204538	ENST00000259845	T	0.34859	1.34	4.68	2.78	0.32641	.	0.345278	0.21033	N	0.081303	T	0.10035	0.0246	L	0.32530	0.975	0.30919	N	0.728201	B	0.06786	0.001	B	0.06405	0.002	T	0.13575	-1.0504	10	0.52906	T	0.07	-0.1288	5.1115	0.14811	0.2009:0.6837:0.0:0.1154	.	14	Q9UIG4	PS1C2_HUMAN	F	14	ENSP00000259845:C14F	ENSP00000259845:C14F	C	-	2	0	PSORS1C2	31214742	1.000000	0.71417	0.998000	0.56505	0.256000	0.26092	1.312000	0.33574	0.330000	0.23485	0.297000	0.19635	TGC		0.597	PSORS1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076115.3			10	51	1	0	0.00829132	0.00862552	10	51				
DST	667	broad.mit.edu	37	6	56374648	56374648	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:56374648G>A	ENST00000361203.3	-	69	17851	c.17844C>T	c.(17842-17844)atC>atT	p.I5948I	DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Silent_p.I6059I|DST_ENST00000244364.6_Silent_p.I3645I|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Silent_p.I5733I|DST_ENST00000370788.2_Silent_p.I3862I|DST_ENST00000370754.5_Silent_p.I6237I|DST_ENST00000421834.2_Silent_p.I3971I			Q03001	DYST_HUMAN	dystonin	5949					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCTCTCAAGGATCTGATCTA	0.398																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(12445-12447)ATC>ATT		dystonin isoform 2							89.0	78.0	81.0					6																	56374648		1856	4115	5971	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56374648G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17844C>T	6.37:g.56374648G>A						DST_uc003pcz.3_Silent_p.I3971I|DST_uc011dxj.1_Silent_p.I4000I|DST_uc011dxk.1_Silent_p.I4011I|DST_uc003pcy.3_Silent_p.I3645I	p.I4149I	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		68	12475	-	Lung NSC(77;0.103)		6057			Spectrin 12.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.12447C>T																																																																																					0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		5	45	0	0	0	0	5	45				
DOPEY1	23033	broad.mit.edu	37	6	83810518	83810518	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:83810518G>C	ENST00000349129.2	+	4	493	c.233G>C	c.(232-234)gGa>gCa	p.G78A	DOPEY1_ENST00000237163.5_Missense_Mutation_p.G78A|DOPEY1_ENST00000536812.1_Missense_Mutation_p.G78A|DOPEY1_ENST00000369739.3_Missense_Mutation_p.G78A	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	78					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTACCAGGTGGAGTTCATCGG	0.363																																						uc003pjs.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(232-234)GGA>GCA		dopey family member 1							177.0	187.0	184.0					6																	83810518		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83810518G>C	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.233G>C	6.37:g.83810518G>C	ENSP00000195654:p.Gly78Ala					DOPEY1_uc011dyy.1_Missense_Mutation_p.G78A|DOPEY1_uc010kbl.1_Missense_Mutation_p.G78A	p.G78A	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	4	493	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	78					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.233G>C	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654085	0.88056	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000536812;ENST00000369739	T;T;T	0.59364	0.35;0.38;0.27	5.07	5.07	0.68467	Dopey, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76263	0.3963	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.80320	-0.1432	10	0.72032	D	0.01	.	18.7915	0.91975	0.0:0.0:1.0:0.0	.	78;78;78	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	A	78	ENSP00000195654:G78A;ENSP00000237163:G78A;ENSP00000358754:G78A	ENSP00000237163:G78A	G	+	2	0	DOPEY1	83867237	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.352000	0.97076	2.505000	0.84491	0.591000	0.81541	GGA		0.363	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		26	181	0	0	0	0	26	181				
RARS2	57038	broad.mit.edu	37	6	88251661	88251661	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:88251661G>C	ENST00000369536.5	-	8	632	c.587C>G	c.(586-588)tCc>tGc	p.S196C		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	196					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TAGAGGATTGGACTGCAGTTT	0.363																																						uc003pme.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(586-588)TCC>TGC		arginyl-tRNA synthetase 2, mitochondrial							84.0	84.0	84.0					6																	88251661		2203	4300	6503	SO:0001583	missense	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88251661G>C	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.587C>G	6.37:g.88251661G>C	ENSP00000358549:p.Ser196Cys					RARS2_uc003pmb.2_Missense_Mutation_p.S21C|RARS2_uc003pmc.2_Missense_Mutation_p.S21C|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA	p.S196C	NM_020320	NP_064716	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	8	647	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	196					B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	c.587C>G	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802883	0.70682	.	.	ENSG00000146282	ENST00000369536	T	0.65732	-0.17	5.85	4.96	0.65561	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.533090	0.22892	N	0.054378	T	0.63721	0.2535	M	0.86178	2.8	0.30810	N	0.738941	P	0.46512	0.879	P	0.51918	0.684	T	0.68093	-0.5500	10	0.72032	D	0.01	.	9.8805	0.41231	0.073:0.1407:0.7863:0.0	.	196	Q5T160	SYRM_HUMAN	C	196	ENSP00000358549:S196C	ENSP00000358549:S196C	S	-	2	0	RARS2	88308380	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.788000	0.47806	1.418000	0.47098	0.563000	0.77884	TCC		0.363	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		4	26	0	0	0	0	4	26				
REV3L	5980	broad.mit.edu	37	6	111696128	111696128	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:111696128C>T	ENST00000358835.3	-	14	3884	c.3430G>A	c.(3430-3432)Gaa>Aaa	p.E1144K	REV3L_ENST00000368802.3_Missense_Mutation_p.E1144K|REV3L_ENST00000368805.1_Missense_Mutation_p.E1144K|REV3L_ENST00000435970.1_Missense_Mutation_p.E1066K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1144					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCCTCTTTTTCTGCAGCAGCC	0.418								DNA polymerases (catalytic subunits)																														uc003puy.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(3430-3432)GAA>AAA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							96.0	105.0	102.0					6																	111696128		2201	4299	6500	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111696128C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.3430G>A	6.37:g.111696128C>T	ENSP00000351697:p.Glu1144Lys					REV3L_uc003pux.3_Missense_Mutation_p.E1066K|REV3L_uc003puz.3_Missense_Mutation_p.E1066K	p.E1144K	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	3753	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1144					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.3430G>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	9.361	1.068089	0.20067	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01474	4.94;4.94;4.94;4.85	5.54	3.77	0.43336	Ribonuclease H-like (1);	0.426117	0.24657	N	0.036677	T	0.00552	0.0018	N	0.22421	0.69	0.28408	N	0.918328	B	0.02656	0.0	B	0.04013	0.001	T	0.48801	-0.9003	10	0.42905	T	0.14	.	8.7248	0.34463	0.0:0.7113:0.0:0.2887	.	1144	O60673	DPOLZ_HUMAN	K	1144;1144;1144;1066	ENSP00000357792:E1144K;ENSP00000357795:E1144K;ENSP00000351697:E1144K;ENSP00000402003:E1066K	ENSP00000351697:E1144K	E	-	1	0	REV3L	111802821	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	0.903000	0.28475	0.710000	0.31997	0.585000	0.79938	GAA		0.418	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		15	117	0	0	0	0	15	117				
LAMA2	3908	broad.mit.edu	37	6	129714246	129714246	+	Missense_Mutation	SNP	A	A	G	rs141950826		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:129714246A>G	ENST00000421865.2	+	37	5340	c.5291A>G	c.(5290-5292)gAa>gGa	p.E1764G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1764	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.E1764G(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCCCGGGGGGAAAATGAAGAA	0.453													A|||	1	0.000199681	0.0	0.0	5008	,	,		14566	0.0		0.0	False		,,,				2504	0.001					uc003qbn.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(8)|breast(1)|skin(1)	10						c.(5290-5292)GAA>GGA		laminin alpha 2 subunit isoform a precursor		A	GLY/GLU,GLY/GLU	0,4406		0,0,2203	61.0	67.0	65.0		5291,5291	5.5	0.1	6	dbSNP_134	65	1,8599		0,1,4299	yes	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	98,98	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	1764/3123,1764/3119	129714246	1,13005	2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129714246A>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5291A>G	6.37:g.129714246A>G	ENSP00000400365:p.Glu1764Gly					LAMA2_uc003qbo.2_Missense_Mutation_p.E1764G	p.E1764G	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	37	5396	+			1764			Domain II and I.|Potential.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.5291A>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.272558	0.23221	0.0	1.16E-4	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.14391	2.51	5.5	5.5	0.81552	Laminin I (1);	0.357971	0.29715	N	0.011395	T	0.03348	0.0097	N	0.08118	0	0.22940	N	0.998539	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.34527	-0.9825	10	0.66056	D	0.02	.	15.6049	0.76658	1.0:0.0:0.0:0.0	.	1764;1764	A6NF00;P24043	.;LAMA2_HUMAN	G	1764	ENSP00000400365:E1764G	ENSP00000346769:E1764G	E	+	2	0	LAMA2	129755939	1.000000	0.71417	0.115000	0.21578	0.085000	0.17905	3.854000	0.55949	2.087000	0.62958	0.472000	0.43445	GAA		0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			3	73	0	0	0	0	3	73				
SYNE1	23345	broad.mit.edu	37	6	152557387	152557387	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:152557387C>G	ENST00000367255.5	-	110	20852	c.20251G>C	c.(20251-20253)Gat>Cat	p.D6751H	SYNE1_ENST00000448038.1_Missense_Mutation_p.D6680H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D6751H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D6363H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D6680H|SYNE1_ENST00000356820.4_Missense_Mutation_p.D1275H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6751					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCCATCATCTAATACTTGA	0.328										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(20251-20253)GAT>CAT		spectrin repeat containing, nuclear envelope 1							111.0	108.0	109.0					6																	152557387		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152557387C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20251G>C	6.37:g.152557387C>G	ENSP00000356224:p.Asp6751His	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.D1275H|SYNE1_uc003qos.3_Missense_Mutation_p.D1275H|SYNE1_uc003qot.3_Missense_Mutation_p.D6680H|SYNE1_uc003qou.3_Missense_Mutation_p.D6751H	p.D6751H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	110	20853	-		Ovarian(120;0.0955)	6751			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.20251G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204206	0.79127	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26	5.76	4.87	0.63330	.	0.000000	0.64402	D	0.000008	T	0.48502	0.1503	M	0.62723	1.935	0.53688	D	0.999977	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.71870	0.907;0.907;0.975	T	0.55829	-0.8079	10	0.72032	D	0.01	.	16.5443	0.84410	0.0:0.8693:0.1307:0.0	.	6751;6751;6680	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	H	6751;6680;6751;6680;6363;1275	ENSP00000356224:D6751H;ENSP00000396024:D6680H;ENSP00000265368:D6751H;ENSP00000390975:D6680H;ENSP00000341887:D6363H;ENSP00000349276:D1275H	ENSP00000265368:D6751H	D	-	1	0	SYNE1	152599080	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	6.067000	0.71193	1.379000	0.46325	0.655000	0.94253	GAT		0.328	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		5	50	0	0	0	0	5	50				
CCR6	1235	broad.mit.edu	37	6	167550802	167550802	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:167550802G>A	ENST00000341935.5	+	3	1636	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	CCR6_ENST00000349984.4_Missense_Mutation_p.E362K|CCR6_ENST00000400926.2_Missense_Mutation_p.E362K|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	362					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GCAGACCAGTGAGACCGCAGA	0.468																																						uc003qvl.2		NA																	0				ovary(1)	1						c.(1084-1086)GAG>AAG		chemokine (C-C motif) receptor 6							64.0	60.0	62.0					6																	167550802		2203	4300	6503	SO:0001583	missense	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550802G>A	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.1084G>A	6.37:g.167550802G>A	ENSP00000343952:p.Glu362Lys					CCR6_uc010kkm.2_Missense_Mutation_p.E362K|CCR6_uc003qvn.3_Missense_Mutation_p.E362K|CCR6_uc003qvm.3_Missense_Mutation_p.E362K	p.E362K	NM_031409	NP_113597	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	13	3560	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	362			Cytoplasmic (Potential).		E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	c.1084G>A	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361407	0.24684	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.65916	-0.18;-0.18;-0.18	4.77	4.77	0.60923	.	3.560630	0.00855	U	0.001867	T	0.57888	0.2084	M	0.62723	1.935	0.40823	D	0.98352	P	0.46859	0.885	B	0.41571	0.36	T	0.61342	-0.7082	10	0.56958	D	0.05	.	17.1524	0.86781	0.0:0.0:1.0:0.0	.	362	P51684	CCR6_HUMAN	K	362	ENSP00000383715:E362K;ENSP00000343952:E362K;ENSP00000339393:E362K	ENSP00000343952:E362K	E	+	1	0	CCR6	167470792	1.000000	0.71417	0.713000	0.30519	0.026000	0.11368	5.176000	0.65026	2.336000	0.79503	0.563000	0.77884	GAG		0.468	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			5	52	0	0	0	0	5	52				
CCDC129	223075	broad.mit.edu	37	7	31683300	31683300	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:31683300G>A	ENST00000407970.3	+	11	2354	c.2316G>A	c.(2314-2316)ttG>ttA	p.L772L	CCDC129_ENST00000319386.3_Silent_p.L624L|CCDC129_ENST00000409210.1_Silent_p.L680L|CCDC129_ENST00000451887.2_Silent_p.L798L	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	772										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACAAGACCTTGACACATGGGC	0.502																																						uc003tcj.1		NA																	0					0						c.(2314-2316)TTG>TTA		coiled-coil domain containing 129							103.0	89.0	94.0					7																	31683300		2203	4300	6503	SO:0001819	synonymous_variant	223075							g.chr7:31683300G>A	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.2316G>A	7.37:g.31683300G>A						CCDC129_uc011kad.1_Silent_p.L782L|CCDC129_uc003tci.1_Silent_p.L623L|CCDC129_uc011kae.1_Silent_p.L798L|CCDC129_uc003tck.1_Silent_p.L680L	p.L772L	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	3309	+			772					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.2316G>A	CCDS5435.2																																																																																				0.502	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		17	79	0	0	0	0	17	79				
HECW1	23072	broad.mit.edu	37	7	43531746	43531746	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:43531746C>G	ENST00000395891.2	+	18	3912	c.3307C>G	c.(3307-3309)Cga>Gga	p.R1103G	HECW1_ENST00000453890.1_Missense_Mutation_p.R1069G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1103					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCTGCTATTCGAAGCCAACA	0.423																																						uc003tid.1		NA																	0		p.R1103H(1)		ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(3307-3309)CGA>GGA		NEDD4-like ubiquitin-protein ligase 1							60.0	61.0	61.0					7																	43531746		1896	4109	6005	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43531746C>G	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3307C>G	7.37:g.43531746C>G	ENSP00000379228:p.Arg1103Gly					HECW1_uc011kbi.1_Missense_Mutation_p.R1069G	p.R1103G	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			18	3912	+			1103					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.3307C>G	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473052	0.63737	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.86366	-2.11;-2.11	5.1	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.81894	0.4919	L	0.28115	0.83	0.80722	D	1	P;B	0.49185	0.92;0.228	P;B	0.45506	0.483;0.065	T	0.83037	-0.0159	10	0.45353	T	0.12	.	14.294	0.66300	0.1493:0.8507:0.0:0.0	.	1069;1103	B4DH42;Q76N89	.;HECW1_HUMAN	G	1103;1069;1103	ENSP00000379228:R1103G;ENSP00000407774:R1069G	ENSP00000265522:R1103G	R	+	1	2	HECW1	43498271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.842000	0.39250	2.537000	0.85549	0.555000	0.69702	CGA		0.423	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		9	73	0	0	0	0	9	73				
C7orf57	136288	broad.mit.edu	37	7	48092304	48092304	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:48092304C>G	ENST00000348904.3	+	7	825	c.613C>G	c.(613-615)Caa>Gaa	p.Q205E	C7orf57_ENST00000430738.1_Missense_Mutation_p.Q250E|C7orf57_ENST00000420324.1_Intron|C7orf57_ENST00000435376.1_Intron|C7orf57_ENST00000539619.1_Missense_Mutation_p.Q205E	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	205										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AAGGCCTGGTCAAAAAAACAG	0.408																																						uc003toh.3		NA																	0				ovary(1)	1						c.(613-615)CAA>GAA		hypothetical protein LOC136288							62.0	65.0	64.0					7																	48092304		1899	4148	6047	SO:0001583	missense	136288							g.chr7:48092304C>G	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.613C>G	7.37:g.48092304C>G	ENSP00000335500:p.Gln205Glu					C7orf57_uc003toi.3_Intron	p.Q205E	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN			7	825	+			205					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.613C>G	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725422	0.30593	.	.	ENSG00000164746	ENST00000430738;ENST00000348904;ENST00000539619	T;T;T	0.54866	0.55;0.55;0.55	5.53	4.64	0.57946	.	0.572491	0.18106	N	0.151522	T	0.47783	0.1464	M	0.67953	2.075	0.80722	D	1	B	0.32467	0.372	B	0.30855	0.121	T	0.38757	-0.9646	10	0.23302	T	0.38	-14.95	10.6635	0.45717	0.0:0.9095:0.0:0.0905	.	205	Q8NEG2	CG057_HUMAN	E	250;205;205	ENSP00000410944:Q250E;ENSP00000335500:Q205E;ENSP00000442474:Q205E	ENSP00000335500:Q205E	Q	+	1	0	C7orf57	48058829	0.995000	0.38212	0.989000	0.46669	0.513000	0.34164	1.630000	0.37081	2.577000	0.86979	0.561000	0.74099	CAA		0.408	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		5	99	0	0	0	0	5	99				
FIGNL1	63979	broad.mit.edu	37	7	50513306	50513306	+	Silent	SNP	C	C	T	rs143012740		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:50513306C>T	ENST00000419119.1	-	2	3233	c.1680G>A	c.(1678-1680)gtG>gtA	p.V560V	FIGNL1_ENST00000356889.4_Silent_p.V560V|FIGNL1_ENST00000433017.1_Silent_p.V560V|FIGNL1_ENST00000395556.2_Silent_p.V560V			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	560					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AAAGCCTTTTCACCAATCTTC	0.433																																						uc003tpc.2		NA																	0				ovary(3)	3						c.(1678-1680)GTG>GTA		fidgetin-like 1							91.0	95.0	93.0					7																	50513306		2203	4300	6503	SO:0001819	synonymous_variant	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50513306C>T	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1680G>A	7.37:g.50513306C>T						FIGNL1_uc003tpb.2_Silent_p.V449V|FIGNL1_uc003tpd.2_Silent_p.V560V|FIGNL1_uc003tpe.2_Silent_p.V560V|FIGNL1_uc010kyy.2_Silent_p.V560V	p.V560V	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN			4	2057	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	560					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Silent	SNP	ENST00000419119.1	37	c.1680G>A	CCDS5510.1																																																																																				0.433	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		4	92	0	0	0	0	4	92				
CCDC146	57639	broad.mit.edu	37	7	76924175	76924175	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:76924175G>C	ENST00000285871.4	+	19	2987	c.2860G>C	c.(2860-2862)Gaa>Caa	p.E954Q	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.E668Q	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	954										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAAGCCAGTTGAAATCTGAAT	0.413																																						uc003uga.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2860-2862)GAA>CAA		coiled-coil domain containing 146							56.0	51.0	52.0					7																	76924175		2203	4300	6503	SO:0001583	missense	57639							g.chr7:76924175G>C	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2860G>C	7.37:g.76924175G>C	ENSP00000285871:p.Glu954Gln					CCDC146_uc010ldp.2_Missense_Mutation_p.E668Q|CCDC146_uc003ugc.2_Missense_Mutation_p.E291Q	p.E954Q	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN			19	2987	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	954					A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.2860G>C	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532093	0.64972	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.36340	1.26;2.01	5.67	4.79	0.61399	.	0.045192	0.85682	D	0.000000	T	0.63141	0.2486	M	0.82923	2.615	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.69712	-0.5071	10	0.72032	D	0.01	-17.0009	14.5748	0.68238	0.071:0.0:0.929:0.0	.	668;954	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	Q	954;668	ENSP00000285871:E954Q;ENSP00000413885:E668Q	ENSP00000285871:E954Q	E	+	1	0	AC007000.1	76762111	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	7.254000	0.78329	1.538000	0.49270	-0.136000	0.14681	GAA		0.413	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		4	27	0	0	0	0	4	27				
GRM3	2913	broad.mit.edu	37	7	86468876	86468876	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:86468876C>A	ENST00000361669.2	+	4	3145	c.2046C>A	c.(2044-2046)ttC>ttA	p.F682L	GRM3_ENST00000536043.1_Missense_Mutation_p.F554L|GRM3_ENST00000546348.1_Missense_Mutation_p.F274L|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	682					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.F682L(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GGCCAAAATTCATCAGCCCCA	0.542																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(2044-2046)TTC>TTA		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						75.0	74.0	75.0					7																	86468876		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468876C>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2046C>A	7.37:g.86468876C>A	ENSP00000355316:p.Phe682Leu					GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.F554L|GRM3_uc010leh.2_Missense_Mutation_p.F274L	p.F682L	NM_000840	NP_000831	Q14832	GRM3_HUMAN			4	3145	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		682			Cytoplasmic (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2046C>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880487	0.51801	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.86562	-2.14;-2.14;-2.14	5.69	1.92	0.25849	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88833	0.6544	L	0.45698	1.435	0.80722	D	1	D;D;D	0.64830	0.988;0.994;0.987	D;D;D	0.67231	0.909;0.916;0.95	D	0.85537	0.1213	10	0.45353	T	0.12	.	9.8509	0.41057	0.0:0.7223:0.0:0.2777	.	274;554;682	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	L	682;274;554	ENSP00000355316:F682L;ENSP00000444064:F274L;ENSP00000441407:F554L	ENSP00000355316:F682L	F	+	3	2	GRM3	86306812	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.229000	0.42990	0.078000	0.16900	-0.244000	0.11960	TTC		0.542	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			18	71	1	0	2.35e-11	2.61e-11	18	71				
CFAP69	79846	broad.mit.edu	37	7	89939442	89939442	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:89939442C>T	ENST00000389297.4	+	23	2967	c.2716C>T	c.(2716-2718)Ctg>Ttg	p.L906L	C7orf63_ENST00000497910.1_Silent_p.L888L|C7orf63_ENST00000316089.8_Silent_p.L860L|AC002064.5_ENST00000445784.1_lincRNA	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		906										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AGGAGGACCTCTGGTTGATAC	0.433																																						uc010lep.2		NA																	0				ovary(1)	1						c.(2716-2718)CTG>TTG		hypothetical protein LOC79846 isoform 1							132.0	123.0	126.0					7																	89939442		1890	4110	6000	SO:0001819	synonymous_variant	79846						binding	g.chr7:89939442C>T																												ENST00000389297.4:c.2716C>T	7.37:g.89939442C>T						C7orf63_uc011khj.1_Silent_p.L888L|C7orf63_uc011khk.1_Silent_p.L422L	p.L906L	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			23	2967	+			906					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	ENST00000389297.4	37	c.2716C>T	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	9.082	0.999631	0.19121	.	.	ENSG00000105792	ENST00000412839;ENST00000445156	.	.	.	5.83	4.96	0.65561	.	.	.	.	.	T	0.62732	0.2452	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61277	-0.7095	4	.	.	.	-5.4086	11.0507	0.47884	0.0:0.8589:0.0:0.1411	.	.	.	.	F	134;57	.	.	S	+	2	0	C7orf63	89777378	0.972000	0.33761	1.000000	0.80357	0.990000	0.78478	1.878000	0.39608	1.485000	0.48380	-0.140000	0.14226	TCT		0.433	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			6	74	0	0	0	0	6	74				
HBP1	26959	broad.mit.edu	37	7	106826264	106826264	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:106826264C>T	ENST00000222574.4	+	4	603	c.417C>T	c.(415-417)atC>atT	p.I139I	HBP1_ENST00000485846.1_Silent_p.I139I|HBP1_ENST00000468410.1_Silent_p.I139I	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	139					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CTGTACACATCATAGCCACTA	0.403																																						uc003vdy.2		NA																	0				skin(1)	1						c.(415-417)ATC>ATT		HMG-box transcription factor 1							188.0	173.0	178.0					7																	106826264		2203	4300	6503	SO:0001819	synonymous_variant	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106826264C>T	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.417C>T	7.37:g.106826264C>T						HBP1_uc011klv.1_Silent_p.I149I|HBP1_uc003vdz.2_Silent_p.I139I|HBP1_uc003vea.2_Silent_p.I139I|HBP1_uc003veb.1_Silent_p.I139I	p.I139I	NM_012257	NP_036389	O60381	HBP1_HUMAN			4	603	+			139					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Silent	SNP	ENST00000222574.4	37	c.417C>T	CCDS5741.1																																																																																				0.403	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		18	133	0	0	0	0	18	133				
RBM28	55131	broad.mit.edu	37	7	127961459	127961459	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:127961459G>C	ENST00000223073.2	-	14	1537	c.1423C>G	c.(1423-1425)Cag>Gag	p.Q475E	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Missense_Mutation_p.Q334E	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	475					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TTGAGTTTCTGATGCTTCAGC	0.433																																						uc003vmp.2		NA																	0				ovary(2)	2						c.(1423-1425)CAG>GAG		RNA binding motif protein 28							96.0	89.0	91.0					7																	127961459		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127961459G>C	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1423C>G	7.37:g.127961459G>C	ENSP00000223073:p.Gln475Glu					RBM28_uc003vmo.2_Missense_Mutation_p.Q92E|RBM28_uc011koj.1_Missense_Mutation_p.Q334E	p.Q475E	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN			14	1538	-			475					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1423C>G	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	8.562	0.877932	0.17395	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.19532	3.04;2.14	5.72	5.72	0.89469	.	0.188039	0.47455	D	0.000235	T	0.17023	0.0409	L	0.34521	1.04	0.38368	D	0.944794	B;P;B	0.35844	0.017;0.524;0.017	B;B;B	0.34418	0.013;0.182;0.013	T	0.07501	-1.0769	10	0.11182	T	0.66	-21.6804	17.3829	0.87409	0.0:0.0:1.0:0.0	.	334;475;334	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	E	475;334	ENSP00000223073:Q475E;ENSP00000390517:Q334E	ENSP00000223073:Q475E	Q	-	1	0	RBM28	127748695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.866000	0.39489	2.689000	0.91719	0.655000	0.94253	CAG		0.433	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		6	47	0	0	0	0	6	47				
CNTNAP2	26047	broad.mit.edu	37	7	146536831	146536831	+	Silent	SNP	C	C	T	rs145162968		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:146536831C>T	ENST00000361727.3	+	3	753	c.237C>T	c.(235-237)agC>agT	p.S79S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	79	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CATCAGACAGCGACCATTATC	0.448										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(235-237)AGC>AGT		cell recognition molecule Caspr2 precursor		C		0,4406		0,0,2203	83.0	72.0	76.0		237	2.2	1.0	7	dbSNP_134	76	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CNTNAP2	NM_014141.5		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		79/1332	146536831	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146536831C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.237C>T	7.37:g.146536831C>T		HNSCC(39;0.1)					p.S79S	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		3	753	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	79			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.237C>T	CCDS5889.1																																																																																				0.448	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			11	54	0	0	0	0	11	54				
CNTNAP2	26047	broad.mit.edu	37	7	147869376	147869376	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:147869376C>T	ENST00000361727.3	+	18	3332	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	939	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGCATCCGCTCCTTGAGGATG	0.542										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2815-2817)TCC>TTC		cell recognition molecule Caspr2 precursor							71.0	69.0	70.0					7																	147869376		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147869376C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2816C>T	7.37:g.147869376C>T	ENSP00000354778:p.Ser939Phe	HNSCC(39;0.1)					p.S939F	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		18	3332	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	939			Laminin G-like 3.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2816C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810744	0.90707	.	.	ENSG00000174469	ENST00000361727	T	0.78595	-1.19	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.069086	0.64402	D	0.000011	D	0.90868	0.7131	M	0.92219	3.285	0.80722	D	1	D	0.64830	0.994	D	0.72075	0.976	D	0.92846	0.6293	10	0.87932	D	0	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	939	Q9UHC6	CNTP2_HUMAN	F	939	ENSP00000354778:S939F	ENSP00000354778:S939F	S	+	2	0	CNTNAP2	147500309	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.683000	0.84093	2.552000	0.86080	0.655000	0.94253	TCC		0.542	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			10	65	0	0	0	0	10	65				
PIWIL2	55124	broad.mit.edu	37	8	22167484	22167484	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:22167484G>A	ENST00000454009.2	+	15	2206	c.1697G>A	c.(1696-1698)cGt>cAt	p.R566H	PIWIL2_ENST00000521356.1_Missense_Mutation_p.R566H|PIWIL2_ENST00000356766.6_Missense_Mutation_p.R566H	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	566					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATTGAAGGACGTGTTCTGCCA	0.383																																						uc003xbn.2		NA																	0				skin(1)	1						c.(1696-1698)CGT>CAT		piwi-like 2							121.0	122.0	122.0					8																	22167484		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22167484G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1697G>A	8.37:g.22167484G>A	ENSP00000406956:p.Arg566His					PIWIL2_uc011kzf.1_Missense_Mutation_p.R566H|PIWIL2_uc010ltv.2_Missense_Mutation_p.R566H	p.R566H	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	15	1845	+			566					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.1697G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743159	0.89663	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.12147	2.71;2.71;2.71	6.03	6.03	0.97812	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.42086	0.1187	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.75484	0.908;0.986	T	0.21143	-1.0254	10	0.87932	D	0	.	17.4736	0.87653	0.0:0.0:1.0:0.0	.	566;566	E7ECA4;Q8TC59	.;PIWL2_HUMAN	H	566	ENSP00000349208:R566H;ENSP00000428267:R566H;ENSP00000406956:R566H	ENSP00000349208:R566H	R	+	2	0	PIWIL2	22223429	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.267000	0.78462	2.861000	0.98227	0.655000	0.94253	CGT		0.383	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			6	49	0	0	0	0	6	49				
PLAT	5327	broad.mit.edu	37	8	42038171	42038171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:42038171G>A	ENST00000220809.4	-	10	1178	c.922C>T	c.(922-924)Cag>Tag	p.Q308*	PLAT_ENST00000270189.6_Intron|PLAT_ENST00000524009.1_Nonsense_Mutation_p.Q219*|PLAT_ENST00000519510.1_Nonsense_Mutation_p.Q245*|PLAT_ENST00000429710.2_Nonsense_Mutation_p.Q182*|PLAT_ENST00000429089.2_Nonsense_Mutation_p.Q308*|PLAT_ENST00000352041.3_Nonsense_Mutation_p.Q262*	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	308					blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	ATGCGAAACTGAGGCTGGCTG	0.632																																						uc003xos.2		NA																	0				breast(1)|skin(1)	2						c.(922-924)CAG>TAG		plasminogen activator, tissue isoform 1	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						57.0	54.0	55.0					8																	42038171		2203	4300	6503	SO:0001587	stop_gained	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42038171G>A		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.922C>T	8.37:g.42038171G>A	ENSP00000220809:p.Gln308*					PLAT_uc010lxf.1_Nonsense_Mutation_p.Q225*|PLAT_uc010lxg.1_Nonsense_Mutation_p.Q133*|PLAT_uc003xot.2_Nonsense_Mutation_p.Q262*|PLAT_uc011lcm.1_Nonsense_Mutation_p.Q219*|PLAT_uc011lcn.1_Nonsense_Mutation_p.Q182*	p.Q308*	NM_000930	NP_000921	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		10	1131	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	308					A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Nonsense_Mutation	SNP	ENST00000220809.4	37	c.922C>T	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	G	34	5.406474	0.96051	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	.	.	.	5.38	4.5	0.54988	.	0.506565	0.23289	N	0.049807	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	14.3405	0.66622	0.0715:0.0:0.9285:0.0	.	.	.	.	X	308;308;262;245;182;219	.	ENSP00000220809:Q308X	Q	-	1	0	PLAT	42157328	1.000000	0.71417	0.401000	0.26359	0.205000	0.24178	3.582000	0.53921	1.404000	0.46819	0.650000	0.86243	CAG		0.632	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		8	35	0	0	0	0	8	35				
PRKDC	5591	broad.mit.edu	37	8	48842538	48842538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:48842538C>A	ENST00000314191.2	-	18	1983	c.1927G>T	c.(1927-1929)Gaa>Taa	p.E643*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E643*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	643					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACCCATGGTTCAAAAAATTCT	0.318								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(1927-1929)GAA>TAA	NHEJ	protein kinase, DNA-activated, catalytic							66.0	67.0	66.0					8																	48842538		1795	4068	5863	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48842538C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.1927G>T	8.37:g.48842538C>A	ENSP00000313420:p.Glu643*					PRKDC_uc003xqj.2_Nonsense_Mutation_p.E643*|PRKDC_uc011ldh.1_Nonsense_Mutation_p.E643*	p.E643*	NM_006904	NP_008835	P78527	PRKDC_HUMAN			18	1984	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	643					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.1927G>T		.	.	.	.	.	.	.	.	.	.	C	38	7.040373	0.98021	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.61	4.74	0.60224	.	0.449783	0.23991	N	0.042578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	7.1542	0.25628	0.1281:0.6785:0.1238:0.0695	.	.	.	.	X	643	.	ENSP00000313420:E643X	E	-	1	0	PRKDC	49005091	0.907000	0.30839	0.995000	0.50966	0.901000	0.52897	1.136000	0.31467	1.375000	0.46248	0.467000	0.42956	GAA		0.318	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		5	80	1	0	5.94e-07	6.49e-07	5	80				
RGS20	8601	broad.mit.edu	37	8	54866838	54866838	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:54866838G>A	ENST00000297313.3	+	5	1038	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000276500.4_Missense_Mutation_p.E169K|RGS20_ENST00000522225.1_Missense_Mutation_p.E50K|RGS20_ENST00000344277.6_Missense_Mutation_p.E201K	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	316	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|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)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GATAATCTATGAAGACTACAT	0.378																																						uc003xrp.2		NA																	0				ovary(1)	1						c.(946-948)GAA>AAA		regulator of G-protein signaling 20 isoform a							68.0	66.0	67.0					8																	54866838		2203	4300	6503	SO:0001583	missense	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54866838G>A	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.946G>A	8.37:g.54866838G>A	ENSP00000297313:p.Glu316Lys					RGS20_uc003xrq.2_Missense_Mutation_p.E201K|RGS20_uc010lye.2_Missense_Mutation_p.E108K|RGS20_uc010lyf.2_Missense_Mutation_p.E80K|RGS20_uc003xrs.2_Missense_Mutation_p.E169K|RGS20_uc003xrt.2_Missense_Mutation_p.E50K	p.E316K	NM_170587	NP_733466	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		5	1038	+			316			RGS.		Q96BG9	Missense_Mutation	SNP	ENST00000297313.3	37	c.946G>A	CCDS6155.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971158	0.92919	.	.	ENSG00000147509	ENST00000297313;ENST00000344277;ENST00000522225;ENST00000276500	T;T;T;T	0.01918	4.56;4.56;4.56;4.56	4.8	4.8	0.61643	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.144833	0.64402	D	0.000009	T	0.10294	0.0252	M	0.64567	1.98	0.80722	D	1	B;B;P;P;D	0.54207	0.401;0.401;0.848;0.848;0.965	B;B;P;P;P	0.62649	0.393;0.393;0.544;0.562;0.905	T	0.03077	-1.1075	10	0.46703	T	0.11	.	18.247	0.89989	0.0:0.0:1.0:0.0	.	80;108;169;201;316	O76081-4;O76081-3;O76081-6;O76081-2;O76081	.;.;.;.;RGS20_HUMAN	K	316;201;50;169	ENSP00000297313:E316K;ENSP00000344630:E201K;ENSP00000430627:E50K;ENSP00000276500:E169K	ENSP00000276500:E169K	E	+	1	0	RGS20	55029391	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.357000	0.79964	0.655000	0.94253	GAA		0.378	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			6	47	0	0	0	0	6	47				
RUNX1T1	862	broad.mit.edu	37	8	92972554	92972554	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:92972554C>T	ENST00000523629.1	-	12	2185	c.1731G>A	c.(1729-1731)ggG>ggA	p.G577G	RUNX1T1_ENST00000422361.2_Silent_p.G540G|RUNX1T1_ENST00000436581.2_Silent_p.G588G|RUNX1T1_ENST00000396218.1_Silent_p.G550G|RUNX1T1_ENST00000518844.1_Silent_p.G550G|RUNX1T1_ENST00000360348.2_Silent_p.G540G|RUNX1T1_ENST00000520724.1_Silent_p.G540G|RUNX1T1_ENST00000265814.3_Silent_p.G577G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	577					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCATCGGGCTCCCAGCCCCGC	0.622																																						uc003yfd.2		NA																	0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1729-1731)GGG>GGA		acute myelogenous leukemia 1 translocation 1							75.0	56.0	62.0					8																	92972554		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92972554C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1731G>A	8.37:g.92972554C>T						RUNX1T1_uc003yfc.1_Silent_p.G550G|RUNX1T1_uc003yfe.1_Silent_p.G540G|RUNX1T1_uc010mao.2_Silent_p.G550G|RUNX1T1_uc011lgi.1_Silent_p.G588G|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Silent_p.G202G|RUNX1T1_uc003yfb.1_Silent_p.G540G	p.G577G	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		11	1815	-			577					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.1731G>A	CCDS6256.1																																																																																				0.622	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		8	39	0	0	0	0	8	39				
HAS2	3037	broad.mit.edu	37	8	122626424	122626424	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:122626424C>T	ENST00000303924.4	-	4	2121	c.1584G>A	c.(1582-1584)acG>acA	p.T528T		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	528					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTACATACAGCGTCAAAAGCA	0.408																																						uc003yph.2		NA																HAS2/PLAG1(10)	0				soft_tissue(10)|ovary(5)	15						c.(1582-1584)ACG>ACA		hyaluronan synthase 2							214.0	182.0	193.0					8																	122626424		2203	4300	6503	SO:0001819	synonymous_variant	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626424C>T	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1584G>A	8.37:g.122626424C>T							p.T528T	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	2122	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		528			Helical; Name=7; (Potential).		Q32MM3	Silent	SNP	ENST00000303924.4	37	c.1584G>A	CCDS6335.1																																																																																				0.408	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		14	84	0	0	0	0	14	84				
PUF60	22827	broad.mit.edu	37	8	144899260	144899260	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:144899260C>T	ENST00000526683.1	-	11	1755	c.1200G>A	c.(1198-1200)gtG>gtA	p.V400V	SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000349157.6_Silent_p.V383V|PUF60_ENST00000527197.1_Silent_p.V354V|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_Silent_p.V371V|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000313352.7_Silent_p.V340V|PUF60_ENST00000453551.2_Silent_p.V357V	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	400	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGATGGGGTTCACCACTCCCA	0.622																																						uc003yzs.2		NA																	0					0						c.(1198-1200)GTG>GTA		poly-U binding splicing factor 60KDa isoform a							34.0	33.0	33.0					8																	144899260		2110	4232	6342	SO:0001819	synonymous_variant	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144899260C>T	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1200G>A	8.37:g.144899260C>T						SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Silent_p.V340V|PUF60_uc003yzt.2_Silent_p.V383V|PUF60_uc003yzq.2_Silent_p.V357V|PUF60_uc003yzu.1_Silent_p.V389V	p.V400V	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		11	1264	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		400			Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Silent	SNP	ENST00000526683.1	37	c.1200G>A	CCDS47934.1																																																																																				0.622	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		3	25	0	0	0	0	3	25				
KIAA2026	158358	broad.mit.edu	37	9	5921788	5921788	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr9:5921788G>C	ENST00000399933.3	-	8	4207	c.4208C>G	c.(4207-4209)tCt>tGt	p.S1403C	KIAA2026_ENST00000381461.2_Missense_Mutation_p.S1373C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1403	Ser-rich.							p.S1403Y(1)|p.S578Y(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TAGAGTACTAGAACAAATAGA	0.393																																						uc003zjq.3		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(2)|central_nervous_system(1)	3						c.(4207-4209)TCT>TGT		hypothetical protein LOC158358							150.0	143.0	145.0					9																	5921788		1894	4113	6007	SO:0001583	missense	158358							g.chr9:5921788G>C	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4208C>G	9.37:g.5921788G>C	ENSP00000382815:p.Ser1403Cys					KIAA2026_uc010mht.2_Missense_Mutation_p.S578C	p.S1403C	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	4424	-		Acute lymphoblastic leukemia(23;0.158)	1403			Ser-rich.		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.4208C>G		.	.	.	.	.	.	.	.	.	.	G	10.80	1.452578	0.26074	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.28	4.28	0.50868	.	0.112969	0.39341	N	0.001395	T	0.56411	0.1983	L	0.27053	0.805	0.29544	N	0.851844	D	0.89917	1.0	D	0.76071	0.987	T	0.57545	-0.7793	9	0.56958	D	0.05	-7.4123	16.9025	0.86117	0.0:0.0:1.0:0.0	.	1403	Q5HYC2	K2026_HUMAN	C	1403;1373	.	ENSP00000370870:S1373C	S	-	2	0	KIAA2026	5911788	1.000000	0.71417	0.998000	0.56505	0.171000	0.22731	6.564000	0.73969	2.222000	0.72286	0.484000	0.47621	TCT		0.393	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		15	92	0	0	0	0	15	92				
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					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.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(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)		GCAGACGGCCCCAGGCATCGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1401	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(33)|Deletion - Frameshift(5)|Substitution - Missense(3)	p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1)	haematopoietic_and_lymphoid_tissue(285)|skin(182)|central_nervous_system(168)|lung(150)|urinary_tract(92)|bone(74)|upper_aerodigestive_tract(64)|soft_tissue(57)|oesophagus(53)|pleura(51)|ovary(36)|pancreas(33)|kidney(32)|breast(32)|thyroid(13)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|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	CM060208	CDKN2A	M	rs121913389	c.(328-330)TGG>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							18.0	21.0	20.0					9																	21971028		2198	4295	6493	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.chr9:21971028C>T	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.330G>A	9.37:g.21971028C>T	ENSP00000307101:p.Trp110*	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.G166R	p.W110*	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	542	-		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)	110			ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.330G>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.852087|6.852087	0.97885|0.97885	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.87412|.	-2.25;-2.15|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.38217|.	N|.	0.001771|.	T|.	0.37839|.	0.1018|.	L|L	0.32530|0.32530	0.975|0.975	0.30154|0.30154	N|N	0.80279|0.80279	D|.	0.58620|.	0.983|.	P|.	0.60117|.	0.869|.	T|.	0.38887|.	-0.9640|.	10|.	0.87932|0.42905	D|T	0|0.14	-14.7138|-14.7138	8.0617|8.0617	0.30638|0.30638	0.1597:0.7616:0.0:0.0788|0.1597:0.7616:0.0:0.0788	.|.	166|.	Q8N726|.	CD2A2_HUMAN|.	R|X	166;125|110	ENSP00000355153:G166R;ENSP00000432664:G125R|.	ENSP00000355153:G166R|ENSP00000307101:W110X	G|W	-|-	1|3	0|0	CDKN2A|CDKN2A	21961028|21961028	0.088000|0.088000	0.21588|0.21588	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	0.422000|0.422000	0.21296|0.21296	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		10	23	0	0	0	0	10	23				
TLN1	7094	broad.mit.edu	37	9	35698089	35698089	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr9:35698089C>G	ENST00000314888.9	-	56	7805	c.7452G>C	c.(7450-7452)gaG>gaC	p.E2484D	TLN1_ENST00000540444.1_Missense_Mutation_p.E2372D	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2484	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGTCTCATTCTCCTGCTCTT	0.562																																						uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(7450-7452)GAG>GAC		talin 1							186.0	156.0	166.0					9																	35698089		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35698089C>G	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.7452G>C	9.37:g.35698089C>G	ENSP00000316029:p.Glu2484Asp						p.E2484D	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		56	7806	-	all_epithelial(49;0.167)		2484			I/LWEQ.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.7452G>C	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	3.088	-0.187616	0.06299	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.43294	0.95;0.95	5.22	5.22	0.72569	I/LWEQ (4);	0.109394	0.64402	D	0.000008	T	0.26340	0.0643	N	0.12663	0.25	0.45295	D	0.998299	B	0.09022	0.002	B	0.12156	0.007	T	0.08953	-1.0697	10	0.10377	T	0.69	-28.3685	17.6987	0.88289	0.0:1.0:0.0:0.0	.	2484	Q9Y490	TLN1_HUMAN	D	2484;2372	ENSP00000316029:E2484D;ENSP00000442981:E2372D	ENSP00000316029:E2484D	E	-	3	2	TLN1	35688089	0.931000	0.31567	1.000000	0.80357	0.993000	0.82548	0.094000	0.15107	2.702000	0.92279	0.655000	0.94253	GAG		0.562	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		15	93	0	0	0	0	15	93				
KIAA1958	158405	broad.mit.edu	37	9	115422154	115422154	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr9:115422154C>T	ENST00000337530.6	+	4	2252	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	KIAA1958_ENST00000536272.1_Silent_p.F680F	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	652										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGTCCCCCTTCTACCTGACTG	0.577																																						uc004bgf.1		NA																	0				skin(1)	1						c.(1954-1956)TTC>TTT		hypothetical protein LOC158405							65.0	51.0	56.0					9																	115422154		2203	4300	6503	SO:0001819	synonymous_variant	158405							g.chr9:115422154C>T	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1956C>T	9.37:g.115422154C>T						KIAA1958_uc011lwx.1_Silent_p.F680F	p.F652F	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN			4	2131	+			652					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	37	c.1956C>T	CCDS35108.1																																																																																				0.577	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		6	35	0	0	0	0	6	35				
LCN6	158062	broad.mit.edu	37	9	139639631	139639631	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr9:139639631C>T	ENST00000341206.4	-	4	447	c.403G>A	c.(403-405)Gag>Aag	p.E135K	LCN10_ENST00000527229.1_5'Flank|LCN10_ENST00000497771.1_5'Flank|LCN6_ENST00000476567.1_Missense_Mutation_p.E50K|LCN10_ENST00000474369.1_5'Flank|LCN6_ENST00000471509.1_5'UTR|LCN6_ENST00000480584.1_5'UTR|LCN6_ENST00000435202.1_Missense_Mutation_p.E125K	NM_198946.2	NP_945184.1	P62502	LCN6_HUMAN	lipocalin 6	135					single fertilization (GO:0007338)	extracellular region (GO:0005576)				lung(3)|upper_aerodigestive_tract(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CTGTACAGCTCCACGGTGTTG	0.627																																					Melanoma(172;919 2704 37090 48131)	uc004ciy.2		NA																	0					0						c.(403-405)GAG>AAG		lipocalin 6 precursor							105.0	97.0	99.0					9																	139639631		2203	4300	6503	SO:0001583	missense	158062				single fertilization	extracellular region	binding	g.chr9:139639631C>T	AF303084	CCDS7005.1	9q34.3	2012-10-08			ENSG00000267206	ENSG00000267206		"""Lipocalins"""	17337	protein-coding gene	gene with protein product		609379					Standard	NM_198946		Approved		uc004ciy.2	P62502	OTTHUMG00000020941	ENST00000341206.4:c.403G>A	9.37:g.139639631C>T	ENSP00000339621:p.Glu135Lys					LCN10_uc004civ.2_5'Flank|LCN10_uc011med.1_5'Flank|LCN10_uc010nbq.2_5'Flank|LCN10_uc011mee.1_5'Flank|LCN10_uc011mef.1_5'Flank|LCN10_uc004ciw.2_RNA|uc004ciz.1_5'Flank	p.E135K	NM_198946	NP_945184	P62502	LCN6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)	4	448	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	135					B0QZ80|Q71SF6	Missense_Mutation	SNP	ENST00000341206.4	37	c.403G>A	CCDS7005.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225130	0.39300	.	.	ENSG00000204003	ENST00000341206	T	0.08370	3.1	3.55	0.298	0.15766	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.555066	0.13466	N	0.385800	T	0.07279	0.0184	L	0.57536	1.79	0.23331	N	0.997891	B	0.34181	0.44	B	0.35182	0.197	T	0.34850	-0.9812	10	0.02654	T	1	-13.5544	7.121	0.25444	0.1805:0.4677:0.3518:0.0	.	135	P62502	LCN6_HUMAN	K	135	ENSP00000339621:E135K	ENSP00000339621:E135K	E	-	1	0	LCN6	138759452	0.857000	0.29778	0.995000	0.50966	0.531000	0.34715	0.247000	0.18179	-0.061000	0.13110	-0.501000	0.04562	GAG		0.627	LCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055107.3	NM_198946		10	51	0	0	0	0	10	51				
DCAF8L1	139425	broad.mit.edu	37	X	27999311	27999311	+	Silent	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:27999311C>G	ENST00000441525.1	-	1	255	c.141G>C	c.(139-141)tcG>tcC	p.S47S		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	47										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CATCTCCGGTCGATGGCTCTG	0.532																																						uc004dbx.1		NA																	0				ovary(3)|skin(1)	4						c.(139-141)TCG>TCC		DDB1 and CUL4 associated factor 8-like 1							101.0	74.0	83.0					X																	27999311		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27999311C>G		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.141G>C	X.37:g.27999311C>G							p.S47S	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	256	-			47					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.141G>C	CCDS35222.1																																																																																				0.532	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		9	28	0	0	0	0	9	28				
XK	7504	broad.mit.edu	37	X	37587032	37587032	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:37587032G>C	ENST00000378616.3	+	3	855	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	218					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.E218K(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GAGGAGCTTTGAGATTGCCAC	0.458																																						uc004ddq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(652-654)GAG>CAG		membrane transport protein XK							133.0	105.0	114.0					X																	37587032		2202	4300	6502	SO:0001583	missense	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37587032G>C	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.652G>C	X.37:g.37587032G>C	ENSP00000367879:p.Glu218Gln						p.E218Q	NM_021083	NP_066569	P51811	XK_HUMAN			3	734	+		all_lung(315;0.175)	218			Helical; (Potential).		Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	c.652G>C	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420998	0.83559	.	.	ENSG00000047597	ENST00000378616	T	0.64260	-0.09	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78585	-0.2147	10	0.29301	T	0.29	-12.9	18.3277	0.90260	0.0:0.0:1.0:0.0	.	218	P51811	XK_HUMAN	Q	218	ENSP00000367879:E218Q	ENSP00000367879:E218Q	E	+	1	0	XK	37471971	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.367000	0.97148	2.268000	0.75426	0.600000	0.82982	GAG		0.458	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		8	17	0	0	0	0	8	17				
SHROOM4	57477	broad.mit.edu	37	X	50377069	50377069	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:50377069G>A	ENST00000289292.7	-	4	2287	c.2004C>T	c.(2002-2004)ctC>ctT	p.L668L	SHROOM4_ENST00000460112.3_Silent_p.L552L|SHROOM4_ENST00000376020.2_Silent_p.L668L			Q9ULL8	SHRM4_HUMAN	shroom family member 4	668					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGGCTTGGCTGAGGCACTCGG	0.527																																						uc004dpe.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(2002-2004)CTC>CTT		shroom family member 4							42.0	39.0	40.0					X																	50377069		2203	4300	6503	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377069G>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2004C>T	X.37:g.50377069G>A						SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Silent_p.L552L	p.L668L	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			4	2030	-	Ovarian(276;0.236)		668					A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.2004C>T	CCDS35277.1																																																																																				0.527	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		7	15	0	0	0	0	7	15				
SHROOM4	57477	broad.mit.edu	37	X	50377082	50377082	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:50377082G>A	ENST00000289292.7	-	4	2274	c.1991C>T	c.(1990-1992)tCt>tTt	p.S664F	SHROOM4_ENST00000460112.3_Missense_Mutation_p.S548F|SHROOM4_ENST00000376020.2_Missense_Mutation_p.S664F			Q9ULL8	SHRM4_HUMAN	shroom family member 4	664					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCACTCGGAAGACCTAGCTCT	0.532																																						uc004dpe.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1990-1992)TCT>TTT		shroom family member 4							44.0	42.0	43.0					X																	50377082		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377082G>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1991C>T	X.37:g.50377082G>A	ENSP00000289292:p.Ser664Phe					SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.S548F	p.S664F	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			4	2017	-	Ovarian(276;0.236)		664					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.1991C>T	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457134	0.26161	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.88124	-2.34;-2.34;-2.34	6.06	6.06	0.98353	.	0.160975	0.46145	D	0.000301	D	0.91845	0.7419	M	0.67953	2.075	0.35577	D	0.805932	D	0.89917	1.0	D	0.73708	0.981	D	0.94389	0.7612	10	0.72032	D	0.01	.	11.811	0.52183	0.0:0.0:0.8255:0.1745	.	664	Q9ULL8	SHRM4_HUMAN	F	664;664;548	ENSP00000289292:S664F;ENSP00000365188:S664F;ENSP00000421450:S548F	ENSP00000289292:S664F	S	-	2	0	SHROOM4	50393822	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	4.680000	0.61656	2.562000	0.86427	0.600000	0.82982	TCT		0.532	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		9	17	0	0	0	0	9	17				
SHROOM4	57477	broad.mit.edu	37	X	50377856	50377856	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:50377856G>C	ENST00000289292.7	-	4	1500	c.1217C>G	c.(1216-1218)aCa>aGa	p.T406R	SHROOM4_ENST00000460112.3_Missense_Mutation_p.T290R|SHROOM4_ENST00000376020.2_Missense_Mutation_p.T406R			Q9ULL8	SHRM4_HUMAN	shroom family member 4	406					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCGATGCCCTGTGGGTCCTAT	0.567																																						uc004dpe.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1216-1218)ACA>AGA		shroom family member 4							37.0	25.0	29.0					X																	50377856		2203	4299	6502	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377856G>C	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1217C>G	X.37:g.50377856G>C	ENSP00000289292:p.Thr406Arg					SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.T290R	p.T406R	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			4	1243	-	Ovarian(276;0.236)		406					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.1217C>G	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	g	3.805	-0.040884	0.07452	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.44482	0.92;0.92;0.92	4.99	2.18	0.27775	.	0.524563	0.19085	N	0.123132	T	0.32645	0.0836	L	0.60455	1.87	0.09310	N	0.999997	B	0.32283	0.362	B	0.31191	0.125	T	0.17471	-1.0368	10	0.32370	T	0.25	.	4.6353	0.12521	0.1956:0.0:0.6309:0.1735	.	406	Q9ULL8	SHRM4_HUMAN	R	406;406;290	ENSP00000289292:T406R;ENSP00000365188:T406R;ENSP00000421450:T290R	ENSP00000289292:T406R	T	-	2	0	SHROOM4	50394596	0.000000	0.05858	0.637000	0.29366	0.801000	0.45260	0.460000	0.21924	0.130000	0.18549	-0.169000	0.13324	ACA		0.567	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		5	11	0	0	0	0	5	11				
ATP7A	538	broad.mit.edu	37	X	77243873	77243873	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:77243873G>A	ENST00000341514.6	+	3	411	c.256G>A	c.(256-258)Gac>Aac	p.D86N	ATP7A_ENST00000343533.5_Missense_Mutation_p.D86N|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	86					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)	TGTTTTAACTGACACCTTGTT	0.443																																						uc004ecx.3		NA																	0					0						c.(256-258)GAC>AAC		ATPase, Cu++ transporting, alpha polypeptide							366.0	312.0	330.0					X																	77243873		2203	4296	6499	SO:0001583	missense	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:77243873G>A	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.256G>A	X.37:g.77243873G>A	ENSP00000345728:p.Asp86Asn					ATP7A_uc004ecw.2_Missense_Mutation_p.D86N	p.D86N	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			3	416	+			86			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.256G>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	5.761	0.324895	0.10900	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000400860;ENST00000355691	D;D	0.96459	-4.02;-3.98	5.57	2.31	0.28768	.	0.302860	0.35291	N	0.003319	D	0.90048	0.6892	N	0.19112	0.55	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.13407	0.009;0.002	T	0.79546	-0.1759	10	0.16420	T	0.52	-11.07	9.3443	0.38098	0.2699:0.0:0.7301:0.0	.	86;96	Q04656;Q59HD1	ATP7A_HUMAN;.	N	86;86;86;96	ENSP00000343026:D86N;ENSP00000345728:D86N	ENSP00000345728:D86N	D	+	1	0	ATP7A	77130529	1.000000	0.71417	0.186000	0.23195	0.826000	0.46750	4.993000	0.63895	0.040000	0.15660	0.600000	0.82982	GAC		0.443	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		72	166	0	0	0	0	72	166				
MID2	11043	broad.mit.edu	37	X	107169397	107169397	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:107169397G>A	ENST00000262843.6	+	9	2219	c.1671G>A	c.(1669-1671)gaG>gaA	p.E557E	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Silent_p.E527E	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	557	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|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 localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCAGATGGAGAAGGATGAAA	0.423																																						uc004enl.2		NA																	0				ovary(1)	1						c.(1669-1671)GAG>GAA		midline 2 isoform 1							95.0	94.0	94.0					X																	107169397		2203	4300	6503	SO:0001819	synonymous_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107169397G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1671G>A	X.37:g.107169397G>A						MID2_uc004enk.2_Silent_p.E527E	p.E557E	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			9	2244	+			557			B30.2/SPRY.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	37	c.1671G>A	CCDS14532.2																																																																																				0.423	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		19	51	0	0	0	0	19	51				
AFF2	2334	broad.mit.edu	37	X	148059934	148059934	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:148059934G>A	ENST00000370460.2	+	18	3998	c.3519G>A	c.(3517-3519)ctG>ctA	p.L1173L	AFF2_ENST00000370457.5_Silent_p.L1138L|AFF2_ENST00000286437.5_Silent_p.L814L|AFF2_ENST00000342251.3_Silent_p.L1140L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1173					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTTAAGCTGAAGAAGGACC	0.348																																						uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(3517-3519)CTG>CTA		fragile X mental retardation 2							210.0	187.0	195.0					X																	148059934		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148059934G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3519G>A	X.37:g.148059934G>A						AFF2_uc004fcq.2_Silent_p.L1163L|AFF2_uc004fcr.2_Silent_p.L1134L|AFF2_uc011mxb.1_Silent_p.L1138L|AFF2_uc004fcs.2_Silent_p.L1138L|AFF2_uc011mxc.1_Silent_p.L814L	p.L1173L	NM_002025	NP_002016	P51816	AFF2_HUMAN			18	3998	+	Acute lymphoblastic leukemia(192;6.56e-05)		1173					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.3519G>A	CCDS14684.1																																																																																				0.348	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		10	43	0	0	0	0	10	43				
FAM3A	60343	broad.mit.edu	37	X	153735753	153735753	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:153735753C>T	ENST00000447601.2	-	7	920	c.454G>A	c.(454-456)Gac>Aac	p.D152N	FAM3A_ENST00000393572.1_Missense_Mutation_p.D114N|FAM3A_ENST00000492763.1_5'Flank|FAM3A_ENST00000434658.2_Missense_Mutation_p.D135N|FAM3A_ENST00000369643.1_Missense_Mutation_p.D152N|FAM3A_ENST00000369641.3_Missense_Mutation_p.D159N|FAM3A_ENST00000359889.5_Missense_Mutation_p.D152N	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	152						extracellular region (GO:0005576)				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGGGTCGTCGTAGGATGCC	0.602																																						uc004fls.1		NA																	0				large_intestine(1)	1						c.(454-456)GAC>AAC		family 3, member A protein precursor							64.0	48.0	53.0					X																	153735753		2203	4300	6503	SO:0001583	missense	60343					extracellular region		g.chrX:153735753C>T	X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.454G>A	X.37:g.153735753C>T	ENSP00000416146:p.Asp152Asn					FAM3A_uc004flt.1_Missense_Mutation_p.D166N|FAM3A_uc011mzp.1_Missense_Mutation_p.D135N|FAM3A_uc004flu.1_Missense_Mutation_p.D149N|FAM3A_uc011mzq.1_Missense_Mutation_p.D152N|FAM3A_uc004flw.1_Missense_Mutation_p.D152N	p.D152N	NM_021806	NP_068578	P98173	FAM3A_HUMAN			7	731	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		152					A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Missense_Mutation	SNP	ENST00000447601.2	37	c.454G>A	CCDS35453.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392302	0.83011	.	.	ENSG00000071889	ENST00000434658;ENST00000359889;ENST00000369643;ENST00000447601;ENST00000369641;ENST00000393572;ENST00000426266	T;T;T;T;T;T;T	0.39592	1.9;1.9;1.9;1.9;1.9;1.9;1.07	5.06	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.89904	3.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.995;0.995	T	0.74188	-0.3746	10	0.87932	D	0	-10.804	11.6913	0.51516	0.0:0.9096:0.0:0.0904	.	135;159;166;152	B4DFI8;Q5HY75;D3DWX8;P98173	.;.;.;FAM3A_HUMAN	N	135;152;152;152;159;114;159	ENSP00000396243:D135N;ENSP00000352955:D152N;ENSP00000358657:D152N;ENSP00000416146:D152N;ENSP00000358655:D159N;ENSP00000377202:D114N;ENSP00000396845:D159N	ENSP00000352955:D152N	D	-	1	0	FAM3A	153388947	1.000000	0.71417	0.221000	0.23827	0.793000	0.44817	7.147000	0.77382	0.923000	0.37045	0.529000	0.55759	GAC		0.602	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037362.2			8	16	0	0	0	0	8	16				
NBPF10	100132406	broad.mit.edu	37	1	145367753	145367753	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:145367753delG	ENST00000342960.5	+	83	10384	c.10349delG	c.(10348-10350)agafs	p.R3451fs	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	751						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		agaaggggaagaagatcaaag	0.413																																						uc001end.3		NA																	0					0						c.(10573-10575)AGAfs		hypothetical protein LOC100132406																																				SO:0001589	frameshift_variant	100132406							g.chr1:145367753delG	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10349delG	1.37:g.145367753delG	ENSP00000345684:p.Arg3451fs					NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.R3525fs	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10609	+	all_hematologic(923;0.032)		3450					Q5RHC0|Q9NWN6	Frame_Shift_Del	DEL	ENST00000342960.5	37	c.10574delG	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		13	102	NA	NA	NA	NA	13	102	---	---	---	---
MTPAP	55149	broad.mit.edu	37	10	30653930	30653932	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:30653930_30653932delTCC	ENST00000358107.4	-	2	249_251	c.250_252delGGA	c.(250-252)ggadel	p.G84del	AL161651.1_ENST00000408070.1_RNA|RN7SL241P_ENST00000482973.2_RNA|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCTGATGATGTCCTCCTCCTCCT	0.635																																						uc001ivb.3		NA																	0				ovary(1)	1						c.(250-252)GGAdel		PAP associated domain containing 1 precursor																																				SO:0001651	inframe_deletion	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30653930_30653932delTCC	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000358107.4:c.250_252delGGA	10.37:g.30653939_30653941delTCC	ENSP00000350820:p.Gly84del					LOC729668_uc001ivd.2_RNA|uc001ive.1_RNA|uc001ivg.1_5'Flank	p.G84del	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN			9	1622_1624	-			Error:Variant_position_missing_in_Q9NVV4_after_alignment					D3DRX0|Q659E3|Q6P7E5|Q9HA74	In_Frame_Del	DEL	ENST00000358107.4	37	c.250_252delGGA																																																																																					0.635	MTPAP-201	KNOWN	basic	protein_coding	protein_coding		NM_018109		7	28	NA	NA	NA	NA	7	28	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:113704096_113704098delCTG	ENST00000335509.6	+	4	663_665	c.349_351delCTG	c.(349-351)ctgdel	p.L122del	TPCN1_ENST00000550785.1_In_Frame_Del_p.L194del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.64																																						uc001tuw.2		NA																	0				skin(2)|ovary(1)	3						c.(349-351)CTGdel		two pore segment channel 1 isoform 2																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704096_113704098delCTG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.349_351delCTG	12.37:g.113704105_113704107delCTG	ENSP00000335300:p.Leu122del					TPCN1_uc001tux.2_In_Frame_Del_p.L194del|TPCN1_uc010syt.1_In_Frame_Del_p.L54del	p.L122del	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN			4	646_648	+			122			Helical; Name=S1 of repeat I; (Potential).		A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.349_351delCTG	CCDS31908.1																																																																																				0.640	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		7	552	NA	NA	NA	NA	7	552	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578217	7578218	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:7578217_7578218delGT	ENST00000269305.4	-	6	820_821	c.631_632delAC	c.(631-633)actfs	p.T211fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.T211fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.T211fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.T211fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.T211fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.T211fs	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	211	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.T211I(7)|p.?(5)|p.T211N(4)|p.T211fs*4(3)|p.T211fs*36(2)|p.R209fs*35(2)|p.T211A(2)|p.T211fs*5(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.R209fs*36(1)|p.T211P(1)|p.T211S(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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)	ATGTCGAAAAGTGTTTCTGTCA	0.535		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		46	Substitution - Missense(15)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(2)	p.T211T(9)|p.T211I(7)|p.0?(7)|p.T211N(4)|p.T211fs*4(3)|p.R209fs*35(2)|p.T211fs*36(2)|p.T211fs*5(2)|p.T211A(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.T211_F212insX(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.T211P(1)|p.T211S(1)|p.R209fs*6(1)	large_intestine(6)|biliary_tract(5)|central_nervous_system(5)|bone(5)|stomach(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|breast(4)|upper_aerodigestive_tract(1)|soft_tissue(1)|thymus(1)|urinary_tract(1)|liver(1)|skin(1)|lung(1)|ovary(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(631-633)ACTfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578217_7578218delGT	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.631_632delAC	17.37:g.7578219_7578220delGT	ENSP00000269305:p.Thr211fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.T211fs|TP53_uc002gih.2_Frame_Shift_Del_p.T211fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.T79fs|TP53_uc010cng.1_Frame_Shift_Del_p.T79fs|TP53_uc002gii.1_Frame_Shift_Del_p.T79fs|TP53_uc010cnh.1_Frame_Shift_Del_p.T211fs|TP53_uc010cni.1_Frame_Shift_Del_p.T211fs|TP53_uc002gij.2_Frame_Shift_Del_p.T211fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.T118fs|TP53_uc002gio.2_Frame_Shift_Del_p.T79fs|TP53_uc010vug.1_Frame_Shift_Del_p.T172fs	p.T211fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	825_826	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	211		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.631_632delAC	CCDS11118.1																																																																																				0.535	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	29	NA	NA	NA	NA	12	29	---	---	---	---
