#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
WDFY3	23001	broad.mit.edu	37	4	85729569	85729569	+	Splice_Site	SNP	G	G	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr4:85729569G>A	ENST00000295888.4	-	15	2754	c.2347C>T	c.(2347-2349)Cgt>Tgt	p.R783C	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Splice_Site_p.R783C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	783					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTTCTGCACGACTACAGACA	0.458																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.e15-1		WD repeat and FYVE domain containing 3							137.0	130.0	133.0					4																	85729569		2203	4300	6503	SO:0001630	splice_region_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85729569G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2346-1C>T	4.37:g.85729569G>A						WDFY3_ENST00000295888.4_Splice_Site_p.R783_splice|WDFY3-AS1_ENST00000510449.1_RNA	p.R783_splice			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	15	2754	-		Hepatocellular(203;0.114)	783					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Splice_Site	SNP	ENST00000295888.4	37	c.2345_splice	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554075	0.86231	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.65549	-0.16;-0.16	5.73	5.73	0.89815	.	0.154474	0.64402	D	0.000014	T	0.59487	0.2197	L	0.51422	1.61	0.80722	D	1	D	0.56287	0.975	B	0.39876	0.312	T	0.65549	-0.6141	10	0.59425	D	0.04	.	19.9155	0.97058	0.0:0.0:1.0:0.0	.	783	Q8IZQ1	WDFY3_HUMAN	C	783	ENSP00000318466:R783C;ENSP00000295888:R783C	ENSP00000295888:R783C	R	-	1	0	WDFY3	85948593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.338000	0.96553	2.699000	0.92147	0.650000	0.86243	CGT		0.458	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	Missense_Mutation	77	136	0	0	0	1	0	77	136				
SELP	6403	broad.mit.edu	37	1	169578760	169578760	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr1:169578760G>C	ENST00000263686.6	-	8	1352	c.1315C>G	c.(1315-1317)Cca>Gca	p.P439A	SELP_ENST00000367793.2_Missense_Mutation_p.P377A|SELP_ENST00000367794.2_Missense_Mutation_p.P377A|SELP_ENST00000458599.2_Missense_Mutation_p.P377A|SELP_ENST00000367786.2_Missense_Mutation_p.P377A|SELP_ENST00000367788.2_Missense_Mutation_p.P377A|SELP_ENST00000367791.2_Intron|SELP_ENST00000367792.2_Missense_Mutation_p.P377A	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	439	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	ACTGGGGCTGGTGCTGTCCAC	0.493																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1315-1317)Cca>Gca		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						164.0	135.0	145.0					1																	169578760		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169578760G>C	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1315C>G	1.37:g.169578760G>C	ENSP00000263686:p.Pro439Ala					SELP_ENST00000367788.2_Missense_Mutation_p.P377A|SELP_ENST00000367786.2_Missense_Mutation_p.P377A|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.P377A|SELP_ENST00000367792.2_Missense_Mutation_p.P377A|SELP_ENST00000367793.2_Missense_Mutation_p.P377A|SELP_ENST00000458599.2_Missense_Mutation_p.P377A	p.P439A	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			8	1352	-	all_hematologic(923;0.208)		439			Sushi 4.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1315C>G	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.784|5.784	0.328990|0.328990	0.10956|0.10956	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T|.	0.65178|.	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14|.	5.74|5.74	3.86|3.86	0.44501|0.44501	Complement control module (2);Sushi/SCR/CCP (3);|.	0.350840|.	0.25076|.	N|.	0.033325|.	T|T	0.36082|0.36082	0.0954|0.0954	L|L	0.53617|0.53617	1.68|1.68	0.29691|0.29691	N|N	0.840945|0.840945	D;P;D|.	0.64830|.	0.991;0.623;0.994|.	D;P;D|.	0.66196|.	0.942;0.53;0.928|.	T|T	0.10567|0.10567	-1.0624|-1.0624	10|5	0.13853|.	T|.	0.58|.	-20.6947|-20.6947	10.034|10.034	0.42118|0.42118	0.1417:0.0:0.8583:0.0|0.1417:0.0:0.8583:0.0	.|.	439;439;439|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	A|S	439;438;377;439;439;377;377;377;377;377;362|376	ENSP00000263686:P439A;ENSP00000356767:P377A;ENSP00000356768:P377A;ENSP00000356766:P377A;ENSP00000356762:P377A;ENSP00000356760:P377A|.	ENSP00000263686:P439A|.	P|T	-|-	1|2	0|0	SELP|SELP	167845384|167845384	0.000000|0.000000	0.05858|0.05858	0.835000|0.835000	0.33067|0.33067	0.145000|0.145000	0.21501|0.21501	0.224000|0.224000	0.17738|0.17738	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	CCA|ACC		0.493	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		8	68	0	0	0	1	0	8	68				
OR5D13	390142	broad.mit.edu	37	11	55541549	55541549	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr11:55541549C>A	ENST00000361760.1	+	1	636	c.636C>A	c.(634-636)agC>agA	p.S212R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AGGTGAGCAGCCTAATTATCA	0.428																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(634-636)agC>agA		olfactory receptor, family 5, subfamily D, member 13							143.0	136.0	138.0					11																	55541549		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541549C>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.636C>A	11.37:g.55541549C>A	ENSP00000354800:p.Ser212Arg						p.S212R	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	636	+		all_epithelial(135;0.196)	212					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.636C>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099626	0.37048	.	.	ENSG00000198877	ENST00000361760	T	0.38240	1.15	3.82	-4.87	0.03123	GPCR, rhodopsin-like superfamily (1);	0.445574	0.16487	U	0.212268	T	0.58090	0.2098	H	0.94698	3.57	0.09310	N	1	D	0.56521	0.976	D	0.69654	0.965	T	0.50980	-0.8763	10	0.87932	D	0	-6.4208	4.1998	0.10460	0.2441:0.3423:0.0:0.4137	.	212	Q8NGL4	OR5DD_HUMAN	R	212	ENSP00000354800:S212R	ENSP00000354800:S212R	S	+	3	2	OR5D13	55298125	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.281000	0.02802	-0.733000	0.04850	-0.499000	0.04595	AGC		0.428	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		44	77	1	0	6.5261e-18	1	7.3318e-18	44	77				
LUM	4060	broad.mit.edu	37	12	91502249	91502249	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr12:91502249G>A	ENST00000266718.4	-	2	962	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	170					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.R170R(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCTTTCAGCCGATTGTGCTGG	0.443																																						ENST00000266718.4																			1	Substitution - coding silent(1)	p.R170R(1)	large_intestine(1)	central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(508-510)Cgg>Tgg		lumican							98.0	100.0	99.0					12																	91502249		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502249G>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.508C>T	12.37:g.91502249G>A	ENSP00000266718:p.Arg170Trp					LUM_ENST00000548071.1_Intron	p.R170W	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN			2	962	-			170					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.508C>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.841053	0.32513	.	.	ENSG00000139329	ENST00000266718	T	0.58652	0.32	5.6	5.6	0.85130	.	0.355674	0.30329	N	0.009863	T	0.64583	0.2611	L	0.49699	1.58	0.26729	N	0.970633	P	0.49090	0.919	P	0.53062	0.717	T	0.61831	-0.6982	10	0.59425	D	0.04	-14.9632	15.1305	0.72520	0.0:0.1408:0.8592:0.0	.	170	P51884	LUM_HUMAN	W	170	ENSP00000266718:R170W	ENSP00000266718:R170W	R	-	1	2	LUM	90026380	1.000000	0.71417	0.998000	0.56505	0.555000	0.35460	2.608000	0.46308	2.648000	0.89879	0.557000	0.71058	CGG		0.443	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		55	60	0	0	0	1	0	55	60				
SLC39A2	29986	broad.mit.edu	37	14	21469268	21469268	+	Missense_Mutation	SNP	C	C	T	rs2234637	byFrequency	TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr14:21469268C>T	ENST00000298681.4	+	4	617	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	RP11-84C10.4_ENST00000557335.1_RNA|SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	154			H -> Y (in dbSNP:rs2234637).		transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		CAGCCATGGACATTTACCCTC	0.582													C|||	41	0.0081869	0.0	0.0	5008	,	,		18848	0.0397		0.0	False		,,,				2504	0.001					ENST00000298681.4																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(460-462)Cat>Tat		solute carrier family 39 (zinc transporter), member 2		C	TYR/HIS	1,4405	2.1+/-5.4	0,1,2202	138.0	116.0	124.0		460	1.7	0.0	14	dbSNP_98	124	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC39A2	NM_014579.3	83	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	154/310	21469268	2,13004	2203	4300	6503	SO:0001583	missense	29986					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	g.chr14:21469268C>T	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.460C>T	14.37:g.21469268C>T	ENSP00000298681:p.His154Tyr					SLC39A2_ENST00000554422.1_3'UTR	p.H154Y	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	4	617	+	all_cancers(95;0.00267)		154		H -> Y (in dbSNP:rs2234637).			B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	c.460C>T	CCDS9563.1	11	0.005036630036630037	0	0.0	0	0.0	11	0.019230769230769232	0	0.0	C	1.965	-0.437959	0.04636	2.27E-4	1.16E-4	ENSG00000165794	ENST00000298681	T	0.50813	0.73	5.7	1.69	0.24217	.	0.395519	0.29631	N	0.011602	T	0.20861	0.0502	M	0.72479	2.2	0.09310	N	1	B	0.32939	0.391	B	0.35859	0.212	T	0.25882	-1.0119	10	0.02654	T	1	-0.0337	2.8437	0.05537	0.1334:0.4559:0.2597:0.1509	rs2234637;rs2234637	154	Q9NP94	S39A2_HUMAN	Y	154	ENSP00000298681:H154Y	ENSP00000298681:H154Y	H	+	1	0	SLC39A2	20539108	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-0.107000	0.10873	0.333000	0.23563	0.655000	0.94253	CAT		0.582	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		7	96	0	0	0	1	0	7	96				
B3GAT1	27087	broad.mit.edu	37	11	134253908	134253908	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr11:134253908G>A	ENST00000524765.1	-	3	4831	c.287C>T	c.(286-288)cCg>cTg	p.P96L	B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000392580.1_Missense_Mutation_p.P96L|B3GAT1_ENST00000312527.4_Missense_Mutation_p.P96L|B3GAT1_ENST00000537389.1_Missense_Mutation_p.P109L			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	96					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CTTCTGCACCGGGCGGCTGTA	0.701																																						ENST00000524765.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(286-288)cCg>cTg		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)							35.0	26.0	29.0					11																	134253908		2199	4295	6494	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253908G>A	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.287C>T	11.37:g.134253908G>A	ENSP00000433847:p.Pro96Leu					B3GAT1_ENST00000392580.1_Missense_Mutation_p.P96L|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000312527.4_Missense_Mutation_p.P96L|B3GAT1_ENST00000537389.1_Missense_Mutation_p.P109L	p.P96L			Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	3	4831	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	96					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.287C>T	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635284	0.67130	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	L	0.41632	1.29	0.80722	D	1	B;P	0.39862	0.285;0.692	B;B	0.30316	0.032;0.114	T	0.10917	-1.0609	10	0.23891	T	0.37	-37.3008	18.702	0.91623	0.0:0.0:1.0:0.0	.	109;96	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	L	96;96;96;109	ENSP00000376359:P96L;ENSP00000307875:P96L;ENSP00000433847:P96L;ENSP00000445983:P109L	ENSP00000307875:P96L	P	-	2	0	B3GAT1	133759118	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	6.805000	0.75191	2.420000	0.82092	0.561000	0.74099	CCG		0.701	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		11	5	0	0	0	1	0	11	5				
FGD2	221472	broad.mit.edu	37	6	36979565	36979565	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr6:36979565C>G	ENST00000274963.8	+	4	633	c.462C>G	c.(460-462)atC>atG	p.I154M		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	154	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCTCCAACATCTCCTCCATCT	0.592																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(460-462)atC>atG		FYVE, RhoGEF and PH domain containing 2							158.0	117.0	131.0					6																	36979565		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36979565C>G	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.462C>G	6.37:g.36979565C>G	ENSP00000274963:p.Ile154Met						p.I154M	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			4	633	+			154			DH.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.462C>G	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587108	0.66105	.	.	ENSG00000146192	ENST00000274963	T	0.68624	-0.34	5.69	4.81	0.61882	Dbl homology (DH) domain (5);	0.000000	0.47455	D	0.000232	T	0.74405	0.3712	M	0.83012	2.62	0.33183	D	0.549829	D	0.55385	0.971	D	0.64321	0.924	T	0.77923	-0.2406	10	0.87932	D	0	0.0082	9.5191	0.39124	0.1399:0.7871:0.0:0.073	.	154	Q7Z6J4	FGD2_HUMAN	M	154	ENSP00000274963:I154M	ENSP00000274963:I154M	I	+	3	3	FGD2	37087543	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	0.574000	0.23714	2.676000	0.91093	0.655000	0.94253	ATC		0.592	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		29	60	0	0	0	1	0	29	60				
KCNA5	3741	broad.mit.edu	37	12	5155093	5155093	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr12:5155093G>A	ENST00000252321.3	+	1	2009	c.1780G>A	c.(1780-1782)Gtg>Atg	p.V594M		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	594					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CAAGAGCAACGTGGACTTGCG	0.587																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(1780-1782)Gtg>Atg		potassium voltage-gated channel, shaker-related subfamily, member 5							41.0	41.0	41.0					12																	5155093		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5155093G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1780G>A	12.37:g.5155093G>A	ENSP00000252321:p.Val594Met						p.V594M	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	2009	+			594					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.1780G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661684	0.29515	.	.	ENSG00000130037	ENST00000252321	D	0.98075	-4.7	5.5	4.61	0.57282	.	0.211632	0.29799	U	0.011175	D	0.94653	0.8276	L	0.55481	1.735	0.37674	D	0.923221	P	0.37688	0.605	B	0.22386	0.039	D	0.94308	0.7543	10	0.32370	T	0.25	.	13.2346	0.59963	0.0764:0.0:0.9236:0.0	.	594	P22460	KCNA5_HUMAN	M	594	ENSP00000252321:V594M	ENSP00000252321:V594M	V	+	1	0	KCNA5	5025354	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.220000	0.42908	1.332000	0.45431	0.561000	0.74099	GTG		0.587	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		37	28	0	0	0	1	0	37	28				
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181		TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303																																						ENST00000582557.1																			0																																																			440423							g.chr17:29061941T>C																													17.37:g.29061941T>C														0	861	+									RNA	SNP	ENST00000582557.1	37																																																																																						0.303	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			7	105	0	0	0	1	0	7	105				
OR2M3	127062	broad.mit.edu	37	1	248366772	248366772	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr1:248366772C>A	ENST00000456743.1	+	1	441	c.403C>A	c.(403-405)Ctc>Atc	p.L135I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATACACCAATCTCATGAGCCC	0.433																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(403-405)Ctc>Atc		olfactory receptor, family 2, subfamily M, member 3							219.0	220.0	220.0					1																	248366772		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366772C>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.403C>A	1.37:g.248366772C>A	ENSP00000389625:p.Leu135Ile						p.L135I	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	441	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		135					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.403C>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693666	0.30052	.	.	ENSG00000228198	ENST00000456743	T	0.29917	1.55	2.55	-3.38	0.04883	GPCR, rhodopsin-like superfamily (1);	0.321128	0.17282	U	0.179973	T	0.23806	0.0576	L	0.27944	0.81	0.09310	N	1	P	0.43578	0.811	P	0.51999	0.687	T	0.14144	-1.0483	10	0.51188	T	0.08	.	3.3094	0.07011	0.4578:0.3292:0.1162:0.0967	.	135	Q8NG83	OR2M3_HUMAN	I	135	ENSP00000389625:L135I	ENSP00000389625:L135I	L	+	1	0	OR2M3	246433395	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	-0.249000	0.08842	-0.499000	0.06623	-1.111000	0.02071	CTC		0.433	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		132	199	1	0	3.87428e-42	1	4.5787e-42	132	199				
PCDHB7	56129	broad.mit.edu	37	5	140553474	140553474	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr5:140553474C>T	ENST00000231137.3	+	1	1232	c.1058C>T	c.(1057-1059)aCt>aTt	p.T353I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	353	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTCACTTACTAGCCCAATT	0.488																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1057-1059)aCt>aTt									40.0	42.0	42.0					5																	140553474		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553474C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1058C>T	5.37:g.140553474C>T	ENSP00000231137:p.Thr353Ile						p.T353I	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1232	+			353			Cadherin 4.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1058C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	2.997	-0.206928	0.06180	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.01821	4.62	4.61	-2.01	0.07410	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.01592	0.0051	L	0.37630	1.12	0.09310	N	1	B	0.17038	0.02	B	0.17979	0.02	T	0.45220	-0.9276	9	0.38643	T	0.18	.	4.1261	0.10128	0.3604:0.2947:0.2739:0.071	.	353	Q9Y5E2	PCDB7_HUMAN	I	353;136	ENSP00000231137:T353I	ENSP00000231137:T353I	T	+	2	0	PCDHB7	140533658	0.000000	0.05858	0.023000	0.16930	0.421000	0.31385	-2.267000	0.01170	-0.374000	0.07967	0.650000	0.86243	ACT		0.488	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		21	43	0	0	0	1	0	21	43				
TRMU	55687	broad.mit.edu	37	22	46733801	46733801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr22:46733801C>T	ENST00000290846.4	+	2	548	c.208C>T	c.(208-210)Caa>Taa	p.Q70*	TRMU_ENST00000381019.3_Nonsense_Mutation_p.Q70*|TRMU_ENST00000424260.2_Nonsense_Mutation_p.Q35*	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	70					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CCCTTTCCATCAAGTGTCCTA	0.483																																						ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(208-210)Caa>Taa		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							220.0	183.0	196.0					22																	46733801		2203	4300	6503	SO:0001587	stop_gained	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46733801C>T	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.208C>T	22.37:g.46733801C>T	ENSP00000290846:p.Gln70*					TRMU_ENST00000424260.2_Nonsense_Mutation_p.Q35*|TRMU_ENST00000381019.3_Nonsense_Mutation_p.Q70*	p.Q70*	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	2	548	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	70					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Nonsense_Mutation	SNP	ENST00000290846.4	37	c.208C>T	CCDS14075.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579541	0.96565	.	.	ENSG00000100416	ENST00000290846;ENST00000381019;ENST00000424260	.	.	.	4.8	3.78	0.43462	.	0.055814	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-19.0674	14.2083	0.65748	0.1509:0.849:0.0:0.0	.	.	.	.	X	70;70;35	.	ENSP00000290846:Q70X	Q	+	1	0	TRMU	45112465	0.999000	0.42202	0.971000	0.41717	0.778000	0.44026	4.349000	0.59385	1.016000	0.39470	-0.225000	0.12378	CAA		0.483	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		21	113	0	0	0	1	0	21	113				
GSX2	170825	broad.mit.edu	37	4	54967865	54967865	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr4:54967865C>T	ENST00000326902.2	+	2	1005	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	GSX2_ENST00000503800.1_3'UTR|AC110298.1_ENST00000408292.1_RNA|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	231					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GTCTCGACTCCGGAGGATTGA	0.537																																						ENST00000326902.2																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(691-693)Cgg>Tgg		GS homeobox 2							120.0	126.0	124.0					4																	54967865		2203	4300	6503	SO:0001583	missense	170825					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:54967865C>T		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.691C>T	4.37:g.54967865C>T	ENSP00000319118:p.Arg231Trp					FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR	p.R231W	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		2	1005	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		231						Missense_Mutation	SNP	ENST00000326902.2	37	c.691C>T	CCDS3494.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177599	0.78564	.	.	ENSG00000180613	ENST00000326902	D	0.96200	-3.94	4.9	4.9	0.64082	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98717	0.9569	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98826	1.0749	10	0.87932	D	0	.	13.2592	0.60097	0.1585:0.8415:0.0:0.0	.	231	Q9BZM3	GSX2_HUMAN	W	231	ENSP00000319118:R231W	ENSP00000319118:R231W	R	+	1	2	GSX2	54662622	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	1.435000	0.34969	2.535000	0.85469	0.484000	0.47621	CGG		0.537	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	NM_133267		57	111	0	0	0	1	0	57	111				
CPNE5	57699	broad.mit.edu	37	6	36766264	36766264	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr6:36766264C>A	ENST00000244751.2	-	5	919	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	99	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TTAGAGTCAACGTCGTATCTG	0.527																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(295-297)Gtt>Ttt		copine V							94.0	88.0	90.0					6																	36766264		2203	4300	6503	SO:0001583	missense	57699							g.chr6:36766264C>A	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.295G>T	6.37:g.36766264C>A	ENSP00000244751:p.Val99Phe						p.V99F	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			5	919	-			99			C2 1.		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.295G>T	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696514	0.68386	.	.	ENSG00000124772	ENST00000244751	T	0.68624	-0.34	4.64	4.64	0.57946	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000003	T	0.69477	0.3115	L	0.42487	1.325	0.80722	D	1	D	0.58620	0.983	D	0.66847	0.947	T	0.73751	-0.3884	10	0.87932	D	0	.	15.0675	0.72008	0.0:1.0:0.0:0.0	.	99	Q9HCH3	CPNE5_HUMAN	F	99	ENSP00000244751:V99F	ENSP00000244751:V99F	V	-	1	0	CPNE5	36874242	0.996000	0.38824	0.994000	0.49952	0.923000	0.55619	2.810000	0.47979	2.392000	0.81423	0.650000	0.86243	GTT		0.527	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		11	27	1	0	0.000673444	1	0.000696402	11	27				
FAM184A	79632	broad.mit.edu	37	6	119345176	119345176	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr6:119345176T>C	ENST00000338891.7	-	2	1405	c.962A>G	c.(961-963)gAc>gGc	p.D321G	FAM184A_ENST00000368475.4_Missense_Mutation_p.D201G|FAM184A_ENST00000522284.1_Missense_Mutation_p.D201G|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.D321G|FAM184A_ENST00000352896.5_Missense_Mutation_p.D201G	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	321						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTGGCATTTGTCAAGAAGACT	0.338																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(961-963)gAc>gGc		family with sequence similarity 184, member A							126.0	122.0	123.0					6																	119345176		1826	4079	5905	SO:0001583	missense	79632							g.chr6:119345176T>C	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.962A>G	6.37:g.119345176T>C	ENSP00000342604:p.Asp321Gly					RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.D201G|FAM184A_ENST00000521531.1_Missense_Mutation_p.D321G|FAM184A_ENST00000368475.4_Missense_Mutation_p.D201G|FAM184A_ENST00000352896.5_Missense_Mutation_p.D201G	p.D321G	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			2	1405	-			321					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.962A>G	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.489340	0.26686	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.00363	7.82;7.82;7.82;7.82;7.82	5.33	4.17	0.49024	.	0.249325	0.45867	N	0.000340	T	0.00178	0.0005	L	0.46157	1.445	0.44302	D	0.997175	B;B;P	0.47545	0.021;0.417;0.897	B;B;B	0.44315	0.026;0.215;0.446	D	0.83722	0.0193	10	0.54805	T	0.06	-8.3265	11.0589	0.47936	0.0:0.0732:0.0:0.9268	.	321;201;321	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	G	321;201;201;321;201	ENSP00000342604:D321G;ENSP00000326608:D201G;ENSP00000357460:D201G;ENSP00000430442:D321G;ENSP00000429826:D201G	ENSP00000342604:D321G	D	-	2	0	FAM184A	119386875	1.000000	0.71417	0.977000	0.42913	0.259000	0.26198	5.685000	0.68204	0.974000	0.38366	0.482000	0.46254	GAC		0.338	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		75	121	0	0	0	1	0	75	121				
ZNF724P	440519	broad.mit.edu	37	19	23406747	23406747	+	Silent	SNP	C	C	T			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr19:23406747C>T	ENST00000418100.1	-	4	417	c.300G>A	c.(298-300)ctG>ctA	p.L100L				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	100					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)|kidney(1)|lung(2)|ovary(2)	8						CATATTTTCTCAGTATTATTC	0.328																																						ENST00000418100.1																			0				endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						c.(298-300)ctG>ctA																																						SO:0001819	synonymous_variant	440519							g.chr19:23406747C>T			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.300G>A	19.37:g.23406747C>T							p.L100L							4	417	-									Silent	SNP	ENST00000418100.1	37	c.300G>A																																																																																					0.328	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			21	14	0	0	0	1	0	21	14				
OR8J3	81168	broad.mit.edu	37	11	55904442	55904442	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr11:55904442G>T	ENST00000301529.1	-	1	752	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TTGTCCCATAGAAAACCGTGA	0.408																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(751-753)ttC>ttA		olfactory receptor, family 8, subfamily J, member 3							131.0	123.0	126.0					11																	55904442		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904442G>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.753C>A	11.37:g.55904442G>T	ENSP00000301529:p.Phe251Leu						p.F251L	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	752	-	Esophageal squamous(21;0.00693)		251					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.753C>A	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360181	0.24598	.	.	ENSG00000167822	ENST00000301529	T	0.00285	8.3	3.27	1.32	0.21799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.00496	0.0016	M	0.81614	2.55	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50180	-0.8858	10	0.59425	D	0.04	.	3.3663	0.07204	0.4228:0.0:0.3975:0.1797	.	251	Q8NGG0	OR8J3_HUMAN	L	251	ENSP00000301529:F251L	ENSP00000301529:F251L	F	-	3	2	OR8J3	55661018	0.000000	0.05858	0.513000	0.27749	0.149000	0.21700	0.696000	0.25541	0.070000	0.16634	0.297000	0.19635	TTC		0.408	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		49	73	1	0	2.64894e-19	1	3.01317e-19	49	73				
GPR37L1	9283	broad.mit.edu	37	1	202092407	202092407	+	Silent	SNP	C	C	T	rs77385011		TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr1:202092407C>T	ENST00000367282.5	+	1	422	c.316C>T	c.(316-318)Ctg>Ttg	p.L106L		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	106					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GAGGGGCAATCTGACAGGAGC	0.632																																						ENST00000367282.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(316-318)Ctg>Ttg		G protein-coupled receptor 37 like 1							87.0	82.0	84.0					1																	202092407		2203	4300	6503	SO:0001819	synonymous_variant	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202092407C>T	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.316C>T	1.37:g.202092407C>T							p.L106L	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			1	422	+			106					B2R7M9|Q5SXP7|Q86VP7	Silent	SNP	ENST00000367282.5	37	c.316C>T	CCDS1420.1																																																																																				0.632	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		26	30	0	0	0	1	0	26	30				
TRIM51	84767	broad.mit.edu	37	11	55658999	55658999	+	Missense_Mutation	SNP	G	G	T	rs149512476		TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr11:55658999G>T	ENST00000449290.2	+	7	1342	c.1250G>T	c.(1249-1251)gGt>gTt	p.G417V	TRIM51_ENST00000244891.3_Missense_Mutation_p.G274V	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	417	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GATTGTGAAGGTAGAACCGTG	0.468																																						ENST00000449290.2																			0											c.(1249-1251)gGt>gTt		tripartite motif-containing 51							94.0	88.0	90.0					11																	55658999		2177	4231	6408	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658999G>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1250G>T	11.37:g.55658999G>T	ENSP00000395086:p.Gly417Val					TRIM51_ENST00000244891.3_Missense_Mutation_p.G274V	p.G417V	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			7	1342	+			417			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1250G>T		.	.	.	.	.	.	.	.	.	.	.	10.88	1.476127	0.26511	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.69806	-0.43;-0.43	1.36	-2.54	0.06307	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.52741	0.1753	L	0.41356	1.27	0.38406	D	0.945805	B	0.34061	0.436	B	0.39971	0.315	T	0.52064	-0.8625	9	0.59425	D	0.04	.	2.3163	0.04199	0.2811:0.3319:0.387:0.0	.	417	Q9BSJ1	SPRY5_HUMAN	V	417;274	ENSP00000395086:G417V;ENSP00000244891:G274V	ENSP00000244891:G274V	G	+	2	0	SPRYD5	55415575	0.898000	0.30612	0.001000	0.08648	0.203000	0.24098	0.046000	0.14035	-0.194000	0.10399	0.162000	0.16502	GGT		0.468	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		59	74	1	0	1.19403e-26	1	1.37541e-26	59	74				
POLR2J4	84820	broad.mit.edu	37	7	44054270	44054270	+	RNA	SNP	C	C	T	rs564371720	byFrequency	TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr7:44054270C>T	ENST00000427076.1	-	0	291				RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000326391.6_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		GTAAAGGCTTCCTGGGGGCTG	0.627													c|||	2	0.000399361	0.0	0.0	5008	,	,		18099	0.002		0.0	False		,,,				2504	0.0					ENST00000427076.1																			0																																																			84820							g.chr7:44054270C>T			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44054270C>T								NR_003655.2						0	291	-									RNA	SNP	ENST00000427076.1	37																																																																																						0.627	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	NR_003655		7	137	0	0	0	1	0	7	137				
RANBP2	5903	broad.mit.edu	37	2	109357023	109357023	+	Silent	SNP	A	A	T	rs375251003		TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr2:109357023A>T	ENST00000283195.6	+	7	987	c.861A>T	c.(859-861)ggA>ggT	p.G287G		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	287					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAATGAAAGGACATTTCTACA	0.393																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(859-861)ggA>ggT		RAN binding protein 2							236.0	251.0	246.0					2																	109357023		2054	3889	5943	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109357023A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.861A>T	2.37:g.109357023A>T							p.G287G	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			7	987	+			287					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.861A>T	CCDS2079.1																																																																																				0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		158	228	0	0	0	1	0	158	228				
PSD	5662	broad.mit.edu	37	10	104164758	104164758	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr10:104164758T>A	ENST00000020673.5	-	14	2978	c.2452A>T	c.(2452-2454)Agc>Tgc	p.S818C	PSD_ENST00000406432.1_Missense_Mutation_p.S818C	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	818	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TGGTGGATGCTGATGGCATTC	0.612																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2452-2454)Agc>Tgc		pleckstrin and Sec7 domain containing							90.0	74.0	79.0					10																	104164758		2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104164758T>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2452A>T	10.37:g.104164758T>A	ENSP00000020673:p.Ser818Cys					PSD_ENST00000406432.1_Missense_Mutation_p.S818C	p.S818C	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	14	2978	-			818			PH.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.2452A>T	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929004	0.73327	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.35236	1.32;1.32	4.81	4.81	0.61882	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.206193	0.52532	D	0.000076	T	0.64227	0.2579	M	0.86502	2.82	0.48901	D	0.999726	D;D;D	0.76494	0.984;0.999;0.998	D;D;D	0.73380	0.928;0.98;0.959	T	0.71632	-0.4534	10	0.66056	D	0.02	.	14.5823	0.68300	0.0:0.0:0.0:1.0	.	818;721;439	A5PKW4;Q86YI3;A5PKW4-2	PSD1_HUMAN;.;.	C	818;721;818	ENSP00000020673:S818C;ENSP00000384830:S818C	ENSP00000020673:S818C	S	-	1	0	PSD	104154748	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.844000	0.62846	2.033000	0.60031	0.449000	0.29647	AGC		0.612	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			19	32	0	0	0	1	0	19	32				
PTH2R	5746	broad.mit.edu	37	2	209353868	209353868	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr2:209353868C>A	ENST00000272847.2	+	11	1421	c.1208C>A	c.(1207-1209)tCc>tAc	p.S403Y	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	403					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TTCTTCAACTCCTTTCAGGTA	0.473																																						ENST00000272847.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1207-1209)tCc>tAc		parathyroid hormone 2 receptor							173.0	161.0	165.0					2																	209353868		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209353868C>A	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1208C>A	2.37:g.209353868C>A	ENSP00000272847:p.Ser403Tyr					AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	p.S403Y	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	11	1421	+			403					Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.1208C>A	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035553	0.75617	.	.	ENSG00000144407	ENST00000272847	T	0.56611	0.45	5.6	5.6	0.85130	GPCR, family 2-like (1);	0.000000	0.47852	D	0.000201	T	0.81777	0.4894	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87335	0.2327	9	.	.	.	.	17.103	0.86654	0.0:1.0:0.0:0.0	.	292;403	B4DFN8;P49190	.;PTH2R_HUMAN	Y	403	ENSP00000272847:S403Y	.	S	+	2	0	PTH2R	209062113	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.407000	0.80029	2.636000	0.89361	0.591000	0.81541	TCC		0.473	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		36	36	1	0	1.60099e-16	1	1.7553e-16	36	36				
BFSP1	631	broad.mit.edu	37	20	17475195	17475195	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr20:17475195C>T	ENST00000377873.3	-	8	1561	c.1522G>A	c.(1522-1524)Ggc>Agc	p.G508S	BFSP1_ENST00000377868.2_Missense_Mutation_p.G383S|BFSP1_ENST00000544874.1_Missense_Mutation_p.G369S|BFSP1_ENST00000536626.1_Missense_Mutation_p.G369S	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	508	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TCCACCTGGCCGTCATAAAGC	0.542																																						ENST00000377873.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(1522-1524)Ggc>Agc		beaded filament structural protein 1, filensin							61.0	53.0	56.0					20																	17475195		2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17475195C>T	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1522G>A	20.37:g.17475195C>T	ENSP00000367104:p.Gly508Ser					BFSP1_ENST00000544874.1_Missense_Mutation_p.G369S|BFSP1_ENST00000536626.1_Missense_Mutation_p.G369S|BFSP1_ENST00000377868.2_Missense_Mutation_p.G383S	p.G508S	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			8	1561	-			508			Tail.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.1522G>A	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	C	6.732	0.503887	0.12822	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.21	1.54	0.23209	.	0.861902	0.10712	N	0.642747	T	0.29556	0.0737	N	0.26042	0.785	0.09310	N	1	B;B	0.26081	0.093;0.141	B;B	0.14578	0.011;0.011	T	0.17715	-1.0360	10	0.16420	T	0.52	-0.5529	8.4075	0.32622	0.0:0.6002:0.0:0.3998	.	383;508	Q12934-2;Q12934	.;BFSP1_HUMAN	S	508;383;369;369	ENSP00000367104:G508S;ENSP00000367099:G383S;ENSP00000442522:G369S;ENSP00000439870:G369S	ENSP00000367099:G383S	G	-	1	0	BFSP1	17423195	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	0.066000	0.14489	0.457000	0.26962	0.655000	0.94253	GGC		0.542	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		5	75	0	0	0	1	0	5	75				
YARS	8565	broad.mit.edu	37	1	33272139	33272139	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr1:33272139C>T	ENST00000373477.4	-	4	1362	c.454G>A	c.(454-456)Gtg>Atg	p.V152M		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	152					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TGCTTTACCACCTCAGCTCCA	0.547																																						ENST00000373477.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(454-456)Gtg>Atg		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						177.0	162.0	167.0					1																	33272139		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33272139C>T	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.454G>A	1.37:g.33272139C>T	ENSP00000362576:p.Val152Met						p.V152M	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN			4	1362	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	152					B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.454G>A	CCDS368.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938456	0.92526	.	.	ENSG00000134684	ENST00000373477	T	0.56776	0.44	4.82	4.82	0.62117	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67325	-0.5699	10	0.27785	T	0.31	-15.3876	18.3122	0.90204	0.0:1.0:0.0:0.0	.	152	P54577	SYYC_HUMAN	M	152	ENSP00000362576:V152M	ENSP00000362576:V152M	V	-	1	0	YARS	33044726	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.487000	0.81328	2.405000	0.81733	0.557000	0.71058	GTG		0.547	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		47	136	0	0	0	1	0	47	136				
TMEM5	10329	broad.mit.edu	37	12	64195968	64195968	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr12:64195968T>C	ENST00000261234.6	+	4	684	c.526T>C	c.(526-528)Tat>Cat	p.Y176H	TMEM5_ENST00000537982.1_3'UTR|TMEM5_ENST00000537373.1_5'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	176						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AAAGATCTTTTATGCCACCCA	0.378																																						ENST00000261234.6																			0				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.(526-528)Tat>Cat		transmembrane protein 5							92.0	91.0	92.0					12																	64195968		2203	4300	6503	SO:0001583	missense	10329					integral to plasma membrane		g.chr12:64195968T>C	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.526T>C	12.37:g.64195968T>C	ENSP00000261234:p.Tyr176His					TMEM5_ENST00000537373.1_5'UTR|TMEM5_ENST00000537982.1_3'UTR	p.Y176H	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	4	684	+		Myeloproliferative disorder(1001;0.0255)	176					A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	c.526T>C	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.027302	0.35797	.	.	ENSG00000118600	ENST00000261234	T	0.30448	1.53	4.93	3.78	0.43462	.	0.181450	0.50627	N	0.000118	T	0.19485	0.0468	N	0.25890	0.77	0.80722	D	1	B	0.15930	0.015	B	0.19946	0.027	T	0.05767	-1.0865	9	.	.	.	-24.553	8.6171	0.33838	0.0:0.1626:0.0:0.8374	.	176	Q9Y2B1	TMEM5_HUMAN	H	176	ENSP00000261234:Y176H	.	Y	+	1	0	TMEM5	62482235	0.998000	0.40836	0.999000	0.59377	0.995000	0.86356	2.527000	0.45615	0.981000	0.38548	0.482000	0.46254	TAT		0.378	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		8	53	0	0	0	1	0	8	53				
PCDHGB1	56104	broad.mit.edu	37	5	140732056	140732056	+	Silent	SNP	T	T	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr5:140732056T>A	ENST00000523390.1	+	1	2229	c.2229T>A	c.(2227-2229)acT>acA	p.T743T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	743					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGGGGACTTTGCCCTATT	0.552																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(2227-2229)acT>acA									98.0	100.0	99.0					5																	140732056		1982	4155	6137	SO:0001819	synonymous_variant	56104							g.chr5:140732056T>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2229T>A	5.37:g.140732056T>A						PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	p.T743T	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2229	+								Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.2229T>A	CCDS54923.1																																																																																				0.552	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		18	94	0	0	0	1	0	18	94				
CELSR3	1951	broad.mit.edu	37	3	48677542	48677542	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr3:48677542G>A	ENST00000164024.4	-	34	9756	c.9476C>T	c.(9475-9477)cCc>cTc	p.P3159L	CELSR3_ENST00000544264.1_Missense_Mutation_p.P3164L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3159					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTGCGGCGGGGCGGAGGCAG	0.706																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(9490-9492)cCc>cTc		cadherin, EGF LAG seven-pass G-type receptor 3							29.0	28.0	28.0					3																	48677542		2197	4295	6492	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48677542G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9476C>T	3.37:g.48677542G>A	ENSP00000164024:p.Pro3159Leu					CELSR3_ENST00000164024.4_Missense_Mutation_p.P3159L	p.P3164L			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	35	9771	-			3159					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.9491C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	5.849	0.340887	0.11069	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.69175	-0.38;-0.37	4.92	2.79	0.32731	.	.	.	.	.	T	0.38054	0.1026	N	0.03608	-0.345	0.29340	N	0.866064	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.23261	-1.0193	9	0.66056	D	0.02	.	2.8385	0.05522	0.1105:0.3134:0.4312:0.1449	.	3164;3159;3257	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	L	3159;3164	ENSP00000164024:P3159L;ENSP00000445694:P3164L	ENSP00000164024:P3159L	P	-	2	0	CELSR3	48652546	1.000000	0.71417	0.862000	0.33874	0.054000	0.15201	1.532000	0.36029	2.267000	0.75376	0.555000	0.69702	CCC		0.706	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		19	20	0	0	0	1	0	19	20				
CDH24	64403	broad.mit.edu	37	14	23524310	23524310	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr14:23524310G>A	ENST00000267383.5	-	2	546	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	CDH24_ENST00000487137.2_Missense_Mutation_p.L152F|CDH24_ENST00000554034.1_Missense_Mutation_p.L152F|CDH24_ENST00000397359.3_Missense_Mutation_p.L152F			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	152	Cadherin 2. {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)		TAGGGCCCAAGGGGAAAAATG	0.597											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000397359.3																			0				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						c.(454-456)Ctt>Ttt		cadherin 24, type 2							96.0	101.0	99.0					14																	23524310		2203	4300	6503	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23524310G>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.454C>T	14.37:g.23524310G>A	ENSP00000267383:p.Leu152Phe		OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_ENST00000267383.5_Missense_Mutation_p.L152F|CDH24_ENST00000554034.1_Missense_Mutation_p.L152F|CDH24_ENST00000487137.2_Missense_Mutation_p.L152F	p.L152F	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	3	713	-	all_cancers(95;3.3e-05)		152			Cadherin 2.		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.454C>T	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.918252	0.52546	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.02	3.07	0.35406	Cadherin (3);Cadherin-like (1);	0.413177	0.23600	N	0.046450	T	0.45155	0.1328	N	0.19112	0.55	0.33378	D	0.574485	P;B;P	0.44006	0.787;0.43;0.824	B;B;B	0.43413	0.419;0.222;0.327	T	0.63655	-0.6588	10	0.72032	D	0.01	.	12.6692	0.56858	0.0:0.1665:0.8335:0.0	.	152;152;152	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	F	152	ENSP00000380517:L152F;ENSP00000434821:L152F;ENSP00000452493:L152F;ENSP00000267383:L152F	ENSP00000267383:L152F	L	-	1	0	CDH24	22594150	0.557000	0.26546	0.999000	0.59377	0.991000	0.79684	0.821000	0.27338	2.079000	0.62486	0.561000	0.74099	CTT		0.597	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		37	21	0	0	0	1	0	37	21				
LRRK1	79705	broad.mit.edu	37	15	101598236	101598236	+	Silent	SNP	G	G	T	rs201190527		TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr15:101598236G>T	ENST00000388948.3	+	29	4928	c.4569G>T	c.(4567-4569)ccG>ccT	p.P1523P	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Silent_p.P1520P	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGAAGGACCCGACTTTTGCCA	0.562																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(4558-4560)ccG>ccT		leucine-rich repeat kinase 1							96.0	97.0	97.0					15																	101598236		1994	4158	6152	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101598236G>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4569G>T	15.37:g.101598236G>T						RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.P1523P	p.P1520P			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		30	4960	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1523			Protein kinase.			Silent	SNP	ENST00000388948.3	37	c.4560G>T	CCDS42086.1																																																																																				0.562	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		19	34	1	0	8.00594e-06	1	8.37403e-06	19	34				
KIAA1468	57614	broad.mit.edu	37	18	59919898	59919898	+	Splice_Site	SNP	C	C	A	rs386352321		TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr18:59919898C>A	ENST00000398130.2	+	12	1967	c.1735C>A	c.(1735-1737)Caa>Aaa	p.Q579K	KIAA1468_ENST00000256858.6_Splice_Site_p.Q579K	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	579								p.Q579K(3)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ATTTTTCAGGCAAATGATACT	0.383																																						ENST00000256858.6																			3	Substitution - Missense(3)	p.Q579K(3)	lung(1)|endometrium(1)|kidney(1)	autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.e12-1		KIAA1468							101.0	94.0	96.0					18																	59919898		2203	4300	6503	SO:0001630	splice_region_variant	57614						binding	g.chr18:59919898C>A	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1734-1C>A	18.37:g.59919898C>A						KIAA1468_ENST00000398130.2_Splice_Site_p.Q579_splice	p.Q579_splice			Q9P260	K1468_HUMAN			12	1983	+		Colorectal(73;0.186)	579						Splice_Site	SNP	ENST00000398130.2	37	c.1733_splice	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958076	0.53400	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.40476	1.03;1.03	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57388	0.2050	L	0.41710	1.295	0.80722	D	1	B;D;D	0.76494	0.007;0.999;0.998	B;D;D	0.71184	0.059;0.972;0.969	T	0.49143	-0.8970	9	.	.	.	-11.5654	20.0621	0.97678	0.0:1.0:0.0:0.0	.	579;579;223	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	K	579	ENSP00000381198:Q579K;ENSP00000256858:Q579K	.	Q	+	1	0	KIAA1468	58070878	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.830000	0.69324	2.750000	0.94351	0.655000	0.94253	CAA		0.383	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854	Missense_Mutation	6	56	1	0	0.0293803	1	0.0293803	6	56				
FKTN	2218	broad.mit.edu	37	9	108397458	108397458	+	Silent	SNP	G	G	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr9:108397458G>A	ENST00000223528.2	+	10	1423	c.1299G>A	c.(1297-1299)acG>acA	p.T433T	FKTN_ENST00000357998.5_Intron|FKTN_ENST00000602661.1_Silent_p.T433T|FKTN_ENST00000540160.1_3'UTR|FKTN_ENST00000448551.2_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	433					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						CTGTAAAGACGTGGGACTGGA	0.463																																						ENST00000223528.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1297-1299)acG>acA		fukutin							190.0	169.0	176.0					9																	108397458		2203	4300	6503	SO:0001819	synonymous_variant	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108397458G>A		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.1299G>A	9.37:g.108397458G>A						FKTN_ENST00000448551.2_Intron|FKTN_ENST00000540160.1_3'UTR|FKTN_ENST00000357998.5_Intron|FKTN_ENST00000602661.1_Silent_p.T433T	p.T433T	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN			10	1423	+			433					B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Silent	SNP	ENST00000223528.2	37	c.1299G>A	CCDS6766.1																																																																																				0.463	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		73	78	0	0	0	1	0	73	78				
PTCD1	26024	broad.mit.edu	37	7	99022765	99022765	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr7:99022765G>A	ENST00000292478.4	-	6	1640	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	PTCD1_ENST00000555673.1_Missense_Mutation_p.R513W|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.R513W	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	464					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AAGGCCAGCCGGTCAGCTGGG	0.652																																						ENST00000292478.4																			0				endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(1390-1392)Cgg>Tgg		pentatricopeptide repeat domain 1							33.0	38.0	36.0					7																	99022765		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99022765G>A	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1390C>T	7.37:g.99022765G>A	ENSP00000292478:p.Arg464Trp					ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.R513W|PTCD1_ENST00000555673.1_Missense_Mutation_p.R513W	p.R464W	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		6	1640	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.1390C>T	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231835	0.39399	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.71698	-0.59;-0.54;-0.54	5.72	0.446	0.16602	.	0.040479	0.85682	D	0.000000	D	0.84479	0.5481	M	0.87682	2.9	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85941	0.1458	10	0.87932	D	0	-30.5291	14.9012	0.70681	0.0:0.0:0.4739:0.5261	.	513;464	G3V325;O75127	.;PTCD1_HUMAN	W	464;246;513;513	ENSP00000292478:R464W;ENSP00000450995:R513W;ENSP00000400168:R513W	ENSP00000400168:R513W	R	-	1	2	ATP5J2-PTCD1;PTCD1	98860701	1.000000	0.71417	0.504000	0.27639	0.140000	0.21249	1.062000	0.30555	-0.150000	0.11195	-1.527000	0.00925	CGG		0.652	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		7	63	0	0	0	1	0	7	63				
GPRC5D	55507	broad.mit.edu	37	12	13102633	13102633	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr12:13102633G>A	ENST00000228887.1	-	1	685	c.686C>T	c.(685-687)cCg>cTg	p.P229L	GPRC5D_ENST00000396333.3_Missense_Mutation_p.P229L|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		CTGGAACTGCGGGTTGCCTCT	0.562																																						ENST00000228887.1																			0				kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(685-687)cCg>cTg		G protein-coupled receptor, family C, group 5, member D							91.0	93.0	92.0					12																	13102633		2203	4300	6503	SO:0001583	missense	55507					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:13102633G>A	AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"""GPCR / Class C : Orphans"""	13310	protein-coding gene	gene with protein product		607437	"""G protein-coupled receptor, family C, group 5, member D"""				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.686C>T	12.37:g.13102633G>A	ENSP00000228887:p.Pro229Leu					RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000543515.2_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.P229L|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA	p.P229L	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	1	685	-		Prostate(47;0.183)	229					Q3KNV3|Q7Z5J9|Q8TDS6	Missense_Mutation	SNP	ENST00000228887.1	37	c.686C>T	CCDS8658.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147758	0.37923	.	.	ENSG00000111291	ENST00000228887;ENST00000396333	D;D	0.87650	-2.28;-2.28	5.73	4.82	0.62117	GPCR, family 3, C-terminal (1);	0.548933	0.19084	N	0.123159	T	0.80093	0.4560	L	0.55481	1.735	0.23916	N	0.996473	B	0.28419	0.211	B	0.25291	0.059	T	0.66771	-0.5839	10	0.27785	T	0.31	.	2.951	0.05861	0.1428:0.1406:0.5501:0.1665	.	229	Q9NZD1	GPC5D_HUMAN	L	229	ENSP00000228887:P229L;ENSP00000379624:P229L	ENSP00000228887:P229L	P	-	2	0	GPRC5D	12993900	0.014000	0.17966	0.882000	0.34594	0.910000	0.53928	0.209000	0.17435	1.390000	0.46547	0.655000	0.94253	CCG		0.562	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1			37	97	0	0	0	1	0	37	97				
XPO7	23039	broad.mit.edu	37	8	21843168	21843168	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr8:21843168G>T	ENST00000252512.9	+	13	1643	c.1543G>T	c.(1543-1545)Gag>Tag	p.E515*	XPO7_ENST00000434536.1_Nonsense_Mutation_p.E524*|XPO7_ENST00000433566.4_Nonsense_Mutation_p.E516*	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	515					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CAGCACTGATGAGCAAGACGC	0.562																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1570-1572)Gag>Tag		exportin 7							199.0	197.0	198.0					8																	21843168		2024	4186	6210	SO:0001587	stop_gained	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21843168G>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1543G>T	8.37:g.21843168G>T	ENSP00000252512:p.Glu515*					XPO7_ENST00000252512.9_Nonsense_Mutation_p.E515*|XPO7_ENST00000433566.4_Nonsense_Mutation_p.E516*	p.E524*			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	13	1672	+			515					O94846|Q6PJK9|Q8NEK7	Nonsense_Mutation	SNP	ENST00000252512.9	37	c.1570G>T	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	G	39	7.744475	0.98465	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	.	.	.	5.15	4.27	0.50696	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-15.7711	15.7038	0.77563	0.0:0.1375:0.8625:0.0	.	.	.	.	X	524;515;516	.	ENSP00000252512:E515X	E	+	1	0	XPO7	21899114	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.426000	0.97469	1.290000	0.44636	0.585000	0.79938	GAG		0.562	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		80	107	1	0	6.86016e-32	1	8.00352e-32	80	107				
C6orf58	352999	broad.mit.edu	37	6	127898604	127898604	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr6:127898604C>G	ENST00000329722.7	+	1	286	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	92						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GGGGTTGCCTCTGCAGTATGG	0.378																																						ENST00000329722.7																			0				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15						c.(274-276)Ctg>Gtg		chromosome 6 open reading frame 58							96.0	103.0	101.0					6																	127898604		2203	4299	6502	SO:0001583	missense	352999					extracellular region		g.chr6:127898604C>G	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.274C>G	6.37:g.127898604C>G	ENSP00000328069:p.Leu92Val					C6orf58_ENST00000498112.1_Intron	p.L92V	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN		GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)	1	286	+			92					B4E1I0|Q5VUP2	Missense_Mutation	SNP	ENST00000329722.7	37	c.274C>G	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112419	0.37242	.	.	ENSG00000184530	ENST00000329722	T	0.58797	0.31	5.24	-1.48	0.08745	.	0.081511	0.50627	N	0.000102	T	0.19765	0.0475	L	0.35593	1.075	0.37433	D	0.91409	P	0.44139	0.827	B	0.37387	0.248	T	0.03000	-1.1084	10	0.36615	T	0.2	-17.5445	5.7788	0.18294	0.0:0.297:0.2456:0.4573	.	92	Q6P5S2	CF058_HUMAN	V	92	ENSP00000328069:L92V	ENSP00000328069:L92V	L	+	1	2	C6orf58	127940297	0.474000	0.25886	0.670000	0.29842	0.983000	0.72400	-0.528000	0.06193	-0.292000	0.08999	0.655000	0.94253	CTG		0.378	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		70	90	0	0	0	1	0	70	90				
SRP54-AS1	100506157	broad.mit.edu	37	14	35409214	35409214	+	RNA	SNP	T	T	C	rs1967723	byFrequency	TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr14:35409214T>C	ENST00000556355.1	-	0	257				RP11-85K15.2_ENST00000555015.1_RNA																							CAACTTCTAATTCATCTCGCC	0.448													C|||	1527	0.304912	0.2837	0.2824	5008	,	,		21625	0.37		0.2704	False		,,,				2504	0.318					ENST00000556355.1																			0																																																			100506157							g.chr14:35409214T>C																													14.37:g.35409214T>C						RP11-85K15.2_ENST00000555015.1_RNA								0	257	-									RNA	SNP	ENST00000556355.1	37																																																																																						0.448	RP11-85K15.2-004	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000410682.2			4	52	0	0	0	1	0	4	52				
ILVBL	10994	broad.mit.edu	37	19	15230293	15230293	+	Missense_Mutation	SNP	T	T	C	rs374239382		TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr19:15230293T>C	ENST00000263383.3	-	8	989	c.850A>G	c.(850-852)Aag>Gag	p.K284E	ILVBL_ENST00000534378.1_Missense_Mutation_p.K177E|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	284						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AGAGGCCTCTTGGCCCGGCTC	0.547																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(850-852)Aag>Gag		ilvB (bacterial acetolactate synthase)-like							39.0	39.0	39.0					19																	15230293		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15230293T>C	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.850A>G	19.37:g.15230293T>C	ENSP00000263383:p.Lys284Glu					ILVBL_ENST00000534378.1_Missense_Mutation_p.K177E|ILVBL_ENST00000531635.1_5'UTR	p.K284E	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			8	989	-			284					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.850A>G	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.724944	0.48833	.	.	ENSG00000105135	ENST00000263383	T	0.48522	0.81	5.13	4.1	0.47936	Thiamine pyrophosphate enzyme, central domain (1);	0.260506	0.43260	D	0.000591	T	0.46347	0.1388	L	0.49126	1.545	0.47949	D	0.99955	B	0.28713	0.22	B	0.38056	0.264	T	0.39035	-0.9633	10	0.46703	T	0.11	-14.1091	10.2213	0.43198	0.0:0.0:0.1675:0.8325	.	284	A1L0T0	ILVBL_HUMAN	E	284	ENSP00000263383:K284E	ENSP00000263383:K284E	K	-	1	0	ILVBL	15091293	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.524000	0.60552	0.763000	0.33175	0.533000	0.62120	AAG		0.547	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		7	43	0	0	0	1	0	7	43				
SUSD2	56241	broad.mit.edu	37	22	24582098	24582098	+	Missense_Mutation	SNP	C	C	T	rs116820424	byFrequency	TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr22:24582098C>T	ENST00000358321.3	+	9	1715	c.1454C>T	c.(1453-1455)gCg>gTg	p.A485V		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	485	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGGGTGCAGGCGCGGGCCCAG	0.647													C|||	18	0.00359425	0.0	0.0	5008	,	,		18856	0.0169		0.0	False		,,,				2504	0.001					ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1453-1455)gCg>gTg		sushi domain containing 2		C	VAL/ALA	0,4402		0,0,2201	20.0	22.0	21.0		1454	-7.7	0.0	22	dbSNP_132	21	1,8597		0,1,4298	yes	missense	SUSD2	NM_019601.3	64	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	485/823	24582098	1,12999	2201	4299	6500	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24582098C>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1454C>T	22.37:g.24582098C>T	ENSP00000351075:p.Ala485Val						p.A485V	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			9	1715	+			485			VWFD.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.1454C>T	CCDS13824.1	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	C	18.50	3.638538	0.67130	0.0	1.16E-4	ENSG00000099994	ENST00000358321	T	0.56444	0.46	5.05	-7.69	0.01263	von Willebrand factor, type D domain (3);	0.355900	0.27787	N	0.017845	T	0.17280	0.0415	N	0.16567	0.415	0.09310	N	1	B	0.18610	0.029	B	0.14578	0.011	T	0.34079	-0.9843	10	0.11485	T	0.65	-11.8041	9.8155	0.40849	0.0:0.1602:0.5925:0.2473	.	485	Q9UGT4	SUSD2_HUMAN	V	485	ENSP00000351075:A485V	ENSP00000351075:A485V	A	+	2	0	SUSD2	22912098	0.002000	0.14202	0.022000	0.16811	0.469000	0.32828	-0.140000	0.10342	-0.658000	0.05366	-0.263000	0.10527	GCG		0.647	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		3	27	0	0	0	1	0	3	27				
LDLRAD2	401944	broad.mit.edu	37	1	22141024	22141024	+	Silent	SNP	C	C	T			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr1:22141024C>T	ENST00000344642.2	+	2	406	c.219C>T	c.(217-219)ccC>ccT	p.P73P	LDLRAD2_ENST00000543870.1_Silent_p.P73P	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	73						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		CGGCAGCCCCCGGCGACCGGA	0.731																																						ENST00000344642.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(217-219)ccC>ccT		low density lipoprotein receptor class A domain containing 2							19.0	23.0	22.0					1																	22141024		2178	4254	6432	SO:0001819	synonymous_variant	401944					integral to membrane	receptor activity	g.chr1:22141024C>T	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 2"""				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.219C>T	1.37:g.22141024C>T						LDLRAD2_ENST00000543870.1_Silent_p.P73P	p.P73P	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	406	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	73					B9EJB3|Q6ZSN5	Silent	SNP	ENST00000344642.2	37	c.219C>T	CCDS30624.1																																																																																				0.731	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693		19	26	0	0	0	1	0	19	26				
DAG1	1605	broad.mit.edu	37	3	49569031	49569031	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr3:49569031C>G	ENST00000539901.1	+	3	1645	c.1087C>G	c.(1087-1089)Cct>Gct	p.P363A	DAG1_ENST00000545947.1_Missense_Mutation_p.P363A|DAG1_ENST00000308775.2_Missense_Mutation_p.P363A|DAG1_ENST00000538711.1_Missense_Mutation_p.P363A|DAG1_ENST00000541308.1_Missense_Mutation_p.P363A|DAG1_ENST00000515359.2_Missense_Mutation_p.P363A	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	363	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGATCCTGTTCCTGGGAAACC	0.607																																						ENST00000545947.1																			0				NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(1087-1089)Cct>Gct		dystroglycan 1 (dystrophin-associated glycoprotein 1)							90.0	92.0	92.0					3																	49569031		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49569031C>G	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1087C>G	3.37:g.49569031C>G	ENSP00000439334:p.Pro363Ala					DAG1_ENST00000541308.1_Missense_Mutation_p.P363A|DAG1_ENST00000539901.1_Missense_Mutation_p.P363A|DAG1_ENST00000538711.1_Missense_Mutation_p.P363A|DAG1_ENST00000515359.2_Missense_Mutation_p.P363A|DAG1_ENST00000308775.2_Missense_Mutation_p.P363A	p.P363A	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	6	1809	+			363			Mucin-like domain.|Required for laminin recognition.|Thr-rich.		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.1087C>G	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051008	0.55218	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.74	4.86	0.63082	.	0.048078	0.85682	D	0.000000	T	0.62356	0.2421	M	0.67953	2.075	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	T	0.63341	-0.6659	9	.	.	.	-12.2897	15.0853	0.72148	0.1431:0.8569:0.0:0.0	.	363	Q14118	DAG1_HUMAN	A	363	ENSP00000440705:P363A;ENSP00000312435:P363A;ENSP00000442600:P363A;ENSP00000440590:P363A;ENSP00000439334:P363A;ENSP00000438421:P363A	.	P	+	1	0	DAG1	49544035	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	7.818000	0.86416	1.406000	0.46857	0.655000	0.94253	CCT		0.607	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			42	112	0	0	0	1	0	42	112				
TCHH	7062	broad.mit.edu	37	1	152081316	152081316	+	Silent	SNP	A	A	G	rs143332338	byFrequency	TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr1:152081316A>G	ENST00000368804.1	-	2	4376	c.4377T>C	c.(4375-4377)cgT>cgC	p.R1459R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1459	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTTTCTGTGACGCTCCTGGC	0.547													-|||	74	0.0147764	0.0008	0.0	5008	,	,		18983	0.0694		0.0	False		,,,				2504	0.0031					ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4375-4377)cgT>cgC		trichohyalin		G		3,3777		0,3,1887	90.0	89.0	89.0		4377	-3.0	0.0	1	dbSNP_134	89	0,8230		0,0,4115	no	coding-synonymous	TCHH	NM_007113.2		0,3,6002	GG,GA,AA		0.0,0.0794,0.025		1459/1944	152081316	3,12007	1890	4115	6005	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081316A>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4377T>C	1.37:g.152081316A>G							p.R1459R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4376	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1459			23 X 26 AA approximate tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.4377T>C	CCDS41396.1																																																																																				0.547	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		10	189	0	0	0	1	0	10	189				
AAK1	22848	broad.mit.edu	37	2	69736466	69736466	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr2:69736466T>C	ENST00000409085.4	-	14	2279	c.1903A>G	c.(1903-1905)Att>Gtt	p.I635V	AAK1_ENST00000409068.1_Missense_Mutation_p.I635V|AAK1_ENST00000406297.3_Missense_Mutation_p.I635V	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	635					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TCACTGAGAATACGCCTGTGC	0.572																																						ENST00000409085.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						c.(1903-1905)Att>Gtt		AP2 associated kinase 1							95.0	96.0	95.0					2																	69736466		1954	4145	6099	SO:0001583	missense	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69736466T>C	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1903A>G	2.37:g.69736466T>C	ENSP00000386456:p.Ile635Val					AAK1_ENST00000409068.1_Missense_Mutation_p.I635V|AAK1_ENST00000406297.3_Missense_Mutation_p.I635V	p.I635V	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN			14	2279	-			635					Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	c.1903A>G	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	T	16.48	3.136407	0.56936	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.28454	1.61;1.61;1.61	5.73	5.73	0.89815	.	0.139840	0.64402	D	0.000009	T	0.43211	0.1237	L	0.32530	0.975	0.50039	D	0.999846	P;P;P	0.51791	0.913;0.948;0.913	P;D;P	0.67103	0.891;0.949;0.891	T	0.14896	-1.0456	10	0.29301	T	0.29	-13.207	15.205	0.73173	0.0:0.0:0.0:1.0	.	635;635;635	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	V	635	ENSP00000386342:I635V;ENSP00000386456:I635V;ENSP00000385181:I635V	ENSP00000385181:I635V	I	-	1	0	AAK1	69589970	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.299000	0.78831	2.179000	0.69175	0.533000	0.62120	ATT		0.572	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		46	54	0	0	0	1	0	46	54				
USP29	57663	broad.mit.edu	37	19	57642321	57642321	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr19:57642321G>T	ENST00000254181.4	+	4	2732	c.2278G>T	c.(2278-2280)Gcc>Tcc	p.A760S	USP29_ENST00000598197.1_Missense_Mutation_p.A760S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	760	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAGCTGGATGCCCAGGAACA	0.488																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(2278-2280)Gcc>Tcc		ubiquitin specific peptidase 29							52.0	45.0	47.0					19																	57642321		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642321G>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2278G>T	19.37:g.57642321G>T	ENSP00000254181:p.Ala760Ser					USP29_ENST00000598197.1_Missense_Mutation_p.A760S	p.A760S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2732	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	760						Missense_Mutation	SNP	ENST00000254181.4	37	c.2278G>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730803	0.30684	.	.	ENSG00000131864	ENST00000254181	T	0.58210	0.35	2.32	-3.08	0.05347	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.35422	0.0931	L	0.38175	1.15	0.09310	N	1	P	0.39809	0.689	B	0.41202	0.35	T	0.23154	-1.0196	9	0.45353	T	0.12	0.0578	0.2553	0.00211	0.2847:0.1955:0.3041:0.2157	.	760	Q9HBJ7	UBP29_HUMAN	S	760	ENSP00000254181:A760S	ENSP00000254181:A760S	A	+	1	0	USP29	62334133	0.009000	0.17119	0.000000	0.03702	0.003000	0.03518	0.156000	0.16382	-0.707000	0.05022	-0.282000	0.10007	GCC		0.488	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			21	35	1	0	3.51602e-12	1	3.80902e-12	21	35				
SMC2	10592	broad.mit.edu	37	9	106888954	106888954	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr9:106888954G>T	ENST00000286398.7	+	19	2772	c.2484G>T	c.(2482-2484)gaG>gaT	p.E828D	SMC2_ENST00000374793.3_Missense_Mutation_p.E828D|SMC2_ENST00000303219.8_Missense_Mutation_p.E828D|SMC2_ENST00000374787.3_Missense_Mutation_p.E828D	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	828					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AACTGGAAGAGCTCAAGAGAG	0.353																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(2482-2484)gaG>gaT		structural maintenance of chromosomes 2							74.0	73.0	74.0					9																	106888954		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106888954G>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2484G>T	9.37:g.106888954G>T	ENSP00000286398:p.Glu828Asp					SMC2_ENST00000303219.8_Missense_Mutation_p.E828D|SMC2_ENST00000374787.3_Missense_Mutation_p.E828D|SMC2_ENST00000374793.3_Missense_Mutation_p.E828D	p.E828D	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			19	2772	+			828					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.2484G>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700013	0.68501	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.16	2.14	0.27477	.	0.160846	0.53938	D	0.000045	T	0.81870	0.4914	M	0.78801	2.425	0.40803	D	0.983353	D	0.53151	0.958	P	0.54590	0.756	T	0.81095	-0.1088	10	0.54805	T	0.06	-15.6352	8.2286	0.31584	0.3628:0.0:0.6372:0.0	.	828	O95347	SMC2_HUMAN	D	828	ENSP00000286398:E828D;ENSP00000363925:E828D;ENSP00000306152:E828D;ENSP00000363919:E828D	ENSP00000286398:E828D	E	+	3	2	SMC2	105928775	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.785000	0.47782	0.612000	0.30071	0.484000	0.47621	GAG		0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			33	38	1	0	7.16026e-08	1	7.57655e-08	33	38				
FAM129C	199786	broad.mit.edu	37	19	17651299	17651299	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr19:17651299C>T	ENST00000335393.4	+	10	1309	c.1171C>T	c.(1171-1173)Ctc>Ttc	p.L391F	FAM129C_ENST00000599164.1_Missense_Mutation_p.L360F|FAM129C_ENST00000599124.1_Missense_Mutation_p.L360F|FAM129C_ENST00000300971.2_Missense_Mutation_p.L391F|FAM129C_ENST00000332386.5_Missense_Mutation_p.L391F|FAM129C_ENST00000601861.1_Missense_Mutation_p.L360F|FAM129C_ENST00000449408.2_Missense_Mutation_p.L117F|FAM129C_ENST00000595684.1_Missense_Mutation_p.L391F|FAM129C_ENST00000352727.3_Missense_Mutation_p.L391F|FAM129C_ENST00000600871.1_Missense_Mutation_p.L337F	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	391										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GGAAGCCTCGCTCGAGGCGGT	0.721																																						ENST00000335393.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(1171-1173)Ctc>Ttc		family with sequence similarity 129, member C							16.0	17.0	17.0					19																	17651299		2199	4297	6496	SO:0001583	missense	199786							g.chr19:17651299C>T	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1171C>T	19.37:g.17651299C>T	ENSP00000335040:p.Leu391Phe					FAM129C_ENST00000600871.1_Missense_Mutation_p.L337F|FAM129C_ENST00000599124.1_Missense_Mutation_p.L360F|FAM129C_ENST00000449408.2_Missense_Mutation_p.L117F|FAM129C_ENST00000599164.1_Missense_Mutation_p.L360F|FAM129C_ENST00000352727.3_Missense_Mutation_p.L391F|FAM129C_ENST00000332386.5_Missense_Mutation_p.L391F|FAM129C_ENST00000300971.2_Missense_Mutation_p.L391F|FAM129C_ENST00000595684.1_Missense_Mutation_p.L391F|FAM129C_ENST00000601861.1_Missense_Mutation_p.L360F	p.L391F	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN			10	1309	+			391					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.1171C>T	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	c	8.505	0.865177	0.17250	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000449408;ENST00000435646	T;T;T;T;T	0.75589	2.25;2.29;2.02;2.05;-0.95	4.45	0.912	0.19349	.	0.338392	0.21634	N	0.071430	T	0.75744	0.3891	M	0.72479	2.2	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.67003	-0.5780	10	0.02654	T	1	-27.1772	2.2851	0.04124	0.1949:0.5034:0.1896:0.1122	.	337;391;391;391;391	E7ENP6;Q86XR2;Q86XR2-3;Q86XR2-4;Q86XR2-2	.;NIBL2_HUMAN;.;.;.	F	391;391;391;391;117;337	ENSP00000335040:L391F;ENSP00000333447:L391F;ENSP00000341067:L391F;ENSP00000300971:L391F;ENSP00000394929:L117F	ENSP00000300971:L391F	L	+	1	0	FAM129C	17512299	0.074000	0.21230	0.003000	0.11579	0.000000	0.00434	1.001000	0.29783	1.005000	0.39183	-0.235000	0.12190	CTC		0.721	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		18	3	0	0	0	1	0	18	3				
GUCY2C	2984	broad.mit.edu	37	12	14766109	14766109	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr12:14766109T>A	ENST00000261170.3	-	27	3300	c.3164A>T	c.(3163-3165)aAa>aTa	p.K1055I	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1055					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CAGAGTGCCTTTTTTATAGCT	0.408																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(3163-3165)aAa>aTa		guanylate cyclase 2C (heat stable enterotoxin receptor)							235.0	234.0	235.0					12																	14766109		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14766109T>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.3164A>T	12.37:g.14766109T>A	ENSP00000261170:p.Lys1055Ile					RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	p.K1055I	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			27	3300	-			1055					B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.3164A>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929871	0.52759	.	.	ENSG00000070019	ENST00000261170	D	0.82081	-1.57	5.85	5.85	0.93711	.	0.358482	0.34314	N	0.004063	T	0.79215	0.4408	L	0.57536	1.79	0.32366	N	0.556538	P	0.37038	0.579	B	0.32624	0.149	D	0.85355	0.1104	10	0.66056	D	0.02	.	12.927	0.58266	0.0:0.0:0.144:0.856	.	1055	P25092	GUC2C_HUMAN	I	1055	ENSP00000261170:K1055I	ENSP00000261170:K1055I	K	-	2	0	GUCY2C	14657376	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.579000	0.36536	2.238000	0.73509	0.533000	0.62120	AAA		0.408	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			21	334	0	0	0	1	0	21	334				
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr4:1803568C>G	ENST00000260795.2	+	6	848	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000340107.4_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		1205	Substitution - Missense(1204)|Deletion - In frame(1)	p.S249C(1204)|p.R248_S249del(1)	urinary_tract(1168)|skin(27)|cervix(5)|lung(4)|upper_aerodigestive_tract(1)	NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091	GRCh37	CM950470	FGFR3	M	rs121913483	c.(745-747)tCc>tGc		fibroblast growth factor receptor 3	Palifermin(DB00039)						13.0	16.0	15.0					4																	1803568		2180	4267	6447	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803568C>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.746C>G	4.37:g.1803568C>G	ENSP00000260795:p.Ser249Cys					FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C	p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1002	+		Breast(71;0.212)|all_epithelial(65;0.241)	249		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).			D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.746C>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	18.75	3.690127	0.68271	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.82081	-1.57;-1.35;-1.33;-1.33;-1.33;-1.33;-1.32	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.92412	3.305	0.30597	A	0.239052	D;D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.80764	0.906;0.978;0.983;0.994;0.968;0.993	D	0.94822	0.7988	9	0.72032	D	0.01	.	16.2883	0.82736	0.0:1.0:0.0:0.0	.	212;249;249;249;249;249	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	249;249;249;249;249;249;69	ENSP00000420533:S249C;ENSP00000339824:S249C;ENSP00000414914:S249C;ENSP00000412903:S249C;ENSP00000260795:S249C;ENSP00000231803:S249C;ENSP00000427289:S69C	ENSP00000260795:S249C	S	+	2	0	FGFR3	1773366	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.424000	0.80242	1.903000	0.55091	0.436000	0.28706	TCC		0.736	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		12	13	0	0	0	1	0	12	13				
MYO1D	4642	broad.mit.edu	37	17	31082577	31082577	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr17:31082577G>C	ENST00000318217.5	-	11	1704	c.1400C>G	c.(1399-1401)aCc>aGc	p.T467S	MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000579584.1_Missense_Mutation_p.T467S|MYO1D_ENST00000394649.4_Missense_Mutation_p.T379S	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	467	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CATTTCATCGGTGACTTTGCC	0.413																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1399-1401)aCc>aGc		myosin ID							146.0	122.0	130.0					17																	31082577		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31082577G>C	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1400C>G	17.37:g.31082577G>C	ENSP00000324527:p.Thr467Ser					MYO1D_ENST00000394649.4_Missense_Mutation_p.T379S|MYO1D_ENST00000579584.1_Missense_Mutation_p.T467S|MYO1D_ENST00000584232.1_5'UTR	p.T467S	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		11	1704	-			467			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.1400C>G	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791341	0.90367	.	.	ENSG00000176658	ENST00000318217	T	0.72051	-0.62	6.17	6.17	0.99709	Myosin head, motor domain (2);	0.000000	0.40640	U	0.001047	T	0.78861	0.4350	M	0.62266	1.93	0.80722	D	1	P;P	0.40534	0.72;0.72	P;P	0.50934	0.654;0.654	T	0.75952	-0.3136	10	0.44086	T	0.13	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	378;467	Q7Z3N6;O94832	.;MYO1D_HUMAN	S	467	ENSP00000324527:T467S	ENSP00000324527:T467S	T	-	2	0	MYO1D	28106690	1.000000	0.71417	0.976000	0.42696	0.988000	0.76386	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ACC		0.413	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			37	40	0	0	0	1	0	37	40				
MYH9	4627	broad.mit.edu	37	22	36702000	36702000	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr22:36702000A>T	ENST00000216181.5	-	17	2365	c.2135T>A	c.(2134-2136)gTg>gAg	p.V712E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	712	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)			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						CTGGAAGACCACCCTGTTGGG	0.672			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				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		0				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						c.(2134-2136)gTg>gAg		myosin, heavy chain 9, non-muscle							76.0	75.0	76.0					22																	36702000		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.chr22:36702000A>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.2135T>A	22.37:g.36702000A>T	ENSP00000216181:p.Val712Glu						p.V712E	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			17	2365	-			712			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.2135T>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	A	32	5.166211	0.94768	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.72394	-0.65	5.46	5.46	0.80206	Myosin head, motor domain (2);	0.123968	0.53938	D	0.000046	T	0.81503	0.4836	M	0.66506	2.035	0.80722	D	1	D	0.54772	0.968	P	0.61874	0.895	D	0.83738	0.0202	10	0.87932	D	0	.	15.8286	0.78733	1.0:0.0:0.0:0.0	.	712	P35579	MYH9_HUMAN	E	576;712	ENSP00000216181:V712E	ENSP00000216181:V712E	V	-	2	0	MYH9	35031946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.188000	0.69820	0.533000	0.62120	GTG		0.672	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		36	64	0	0	0	1	0	36	64				
ABCB9	23457	broad.mit.edu	37	12	123435004	123435004	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr12:123435004A>T	ENST00000542678.1	-	3	3548	c.710T>A	c.(709-711)aTt>aAt	p.I237N	ABCB9_ENST00000442833.2_Missense_Mutation_p.I237N|ABCB9_ENST00000344275.7_Missense_Mutation_p.I237N|ABCB9_ENST00000442028.2_Missense_Mutation_p.I237N|ABCB9_ENST00000540285.1_Missense_Mutation_p.I237N|ABCB9_ENST00000280560.8_Missense_Mutation_p.I237N|ABCB9_ENST00000392439.3_Missense_Mutation_p.I237N|ABCB9_ENST00000346530.5_Missense_Mutation_p.I237N			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	237	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CTACCTGCCAATGGCCAGCAG	0.632																																					Ovarian(49;786 1333 9175 38236)	ENST00000542678.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(709-711)aTt>aAt		ATP-binding cassette, sub-family B (MDR/TAP), member 9							93.0	69.0	77.0					12																	123435004		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123435004A>T	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.710T>A	12.37:g.123435004A>T	ENSP00000440288:p.Ile237Asn					ABCB9_ENST00000442028.2_Missense_Mutation_p.I237N|ABCB9_ENST00000280560.8_Missense_Mutation_p.I237N|ABCB9_ENST00000346530.5_Missense_Mutation_p.I237N|ABCB9_ENST00000540285.1_Missense_Mutation_p.I237N|ABCB9_ENST00000344275.7_Missense_Mutation_p.I237N|ABCB9_ENST00000392439.3_Missense_Mutation_p.I237N|ABCB9_ENST00000442833.2_Missense_Mutation_p.I237N	p.I237N			Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	3	3548	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		237			ABC transmembrane type-1.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.710T>A	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.017908	0.93404	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000536976;ENST00000541424	D;D;D;D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.53;-1.6	5.6	5.6	0.85130	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.458282	0.24532	N	0.037709	D	0.94588	0.8256	M	0.73962	2.25	0.51482	D	0.999924	P;P;B;P	0.51653	0.907;0.947;0.138;0.899	P;P;P;P	0.62649	0.905;0.771;0.601;0.853	D	0.95005	0.8146	10	0.72032	D	0.01	-17.3115	15.7802	0.78255	1.0:0.0:0.0:0.0	.	237;237;237;237	B4E2J0;Q9NP78-3;Q9NP78-2;Q9NP78	.;.;.;ABCB9_HUMAN	N	237;237;237;237;237;237;16;16	ENSP00000280560:I237N;ENSP00000441734:I237N;ENSP00000280559:I237N;ENSP00000376234:I237N;ENSP00000440288:I237N;ENSP00000394898:I237N;ENSP00000443433:I16N;ENSP00000440138:I16N	ENSP00000280560:I237N	I	-	2	0	ABCB9	122000957	0.999000	0.42202	0.995000	0.50966	0.963000	0.63663	8.816000	0.91979	2.141000	0.66446	0.459000	0.35465	ATT		0.632	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		12	5	0	0	0	1	0	12	5				
UNC79	57578	broad.mit.edu	37	14	94008911	94008911	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr14:94008911G>A	ENST00000393151.2	+	14	1624	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N	UNC79_ENST00000553484.1_Missense_Mutation_p.D542N|UNC79_ENST00000555664.1_Missense_Mutation_p.D542N|UNC79_ENST00000256339.4_Missense_Mutation_p.D365N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	542					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTATATGATGGATGATGAAGT	0.517																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1624-1626)Gat>Aat		unc-79 homolog (C. elegans)							221.0	172.0	189.0					14																	94008911		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94008911G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1624G>A	14.37:g.94008911G>A	ENSP00000376858:p.Asp542Asn					UNC79_ENST00000393151.2_Missense_Mutation_p.D542N|UNC79_ENST00000256339.4_Missense_Mutation_p.D365N|UNC79_ENST00000555664.1_Missense_Mutation_p.D542N	p.D542N			Q9P2D8	UNC79_HUMAN			14	1778	+			542					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1624G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.244144	0.95272	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	L	0.43152	1.355	0.58432	D	0.999999	D	0.71674	0.998	D	0.81914	0.995	T	0.09907	-1.0653	10	0.66056	D	0.02	-22.6984	20.3129	0.98645	0.0:0.0:1.0:0.0	.	542	C9JQL1	.	N	365;542;542;542;542	ENSP00000256339:D365N;ENSP00000450868:D542N;ENSP00000451360:D542N;ENSP00000376858:D542N	ENSP00000256339:D365N	D	+	1	0	KIAA1409	93078664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.823000	0.99369	2.800000	0.96347	0.650000	0.86243	GAT		0.517	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		44	28	0	0	0	1	0	44	28				
C19orf57	79173	broad.mit.edu	37	19	14000402	14000402	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr19:14000402G>A	ENST00000586783.1	-	5	1266	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	C19orf57_ENST00000454313.1_Missense_Mutation_p.P423S|C19orf57_ENST00000346736.2_Missense_Mutation_p.P423S|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	423					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCGCTCCCAGGTGCCAGAGCC	0.627																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1267-1269)Cct>Tct		chromosome 19 open reading frame 57							39.0	43.0	41.0					19																	14000402		2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14000402G>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1267C>T	19.37:g.14000402G>A	ENSP00000465822:p.Pro423Ser					C19orf57_ENST00000586783.1_Missense_Mutation_p.P423S|C19orf57_ENST00000346736.2_Missense_Mutation_p.P423S|C19orf57_ENST00000591586.1_Intron	p.P423S			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	1325	-			423					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.1267C>T		.	.	.	.	.	.	.	.	.	.	G	1.993	-0.431330	0.04669	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.46063	0.88;0.88	4.69	0.166	0.14999	.	1.871870	0.02914	N	0.137046	T	0.28962	0.0719	L	0.27053	0.805	0.09310	N	1	B;B	0.33044	0.395;0.395	B;B	0.33196	0.159;0.159	T	0.12915	-1.0529	10	0.12430	T	0.62	1.4019	6.9164	0.24361	0.3782:0.0:0.6218:0.0	.	423;423	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	S	423	ENSP00000404382:P423S;ENSP00000254336:P423S	ENSP00000254336:P423S	P	-	1	0	C19orf57	13861402	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.767000	0.26575	0.051000	0.15978	-0.810000	0.03169	CCT		0.627	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		27	92	0	0	0	1	0	27	92				
APOB	338	broad.mit.edu	37	2	21236404	21236404	+	Splice_Site	SNP	C	C	T			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr2:21236404C>T	ENST00000233242.1	-	25	3971	c.3844G>A	c.(3844-3846)Gat>Aat	p.D1282N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1282					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCCGGCCATCGCTGAAATGA	0.413																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.e25-1		apolipoprotein B	Atorvastatin(DB01076)						67.0	69.0	68.0					2																	21236404		2203	4300	6503	SO:0001630	splice_region_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21236404C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3843-1G>A	2.37:g.21236404C>T							p.D1282_splice	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			25	3971	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1282					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Splice_Site	SNP	ENST00000233242.1	37	c.3842_splice	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609693	0.66558	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01025	5.43	5.29	5.29	0.74685	.	0.094180	0.46145	D	0.000311	T	0.01835	0.0058	L	0.53249	1.67	0.80722	D	1	D	0.56968	0.978	P	0.46479	0.518	T	0.66897	-0.5807	10	0.44086	T	0.13	.	12.657	0.56793	0.0:0.9244:0.0:0.0756	.	1282	P04114	APOB_HUMAN	N	1282	ENSP00000233242:D1282N	ENSP00000233242:D1282N	D	-	1	0	APOB	21089909	1.000000	0.71417	1.000000	0.80357	0.390000	0.30446	5.501000	0.66950	2.656000	0.90262	0.563000	0.77884	GAT		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		Missense_Mutation	38	61	0	0	0	1	0	38	61				
ZMYM6	9204	broad.mit.edu	37	1	35453087	35453087	+	Missense_Mutation	SNP	C	C	T	rs186480444		TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr1:35453087C>T	ENST00000357182.4	-	16	3823	c.3596G>A	c.(3595-3597)aGt>aAt	p.S1199N	RP11-244H3.1_ENST00000417456.1_RNA|ZMYM6NB_ENST00000373337.3_5'Flank|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1199					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAAACAGTCACTGAACACTTG	0.368													C|||	0	0.0	0.0	0.0	5008	,	,		19085	0.0		0.0	False		,,,				2504	0.0					ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(3595-3597)aGt>aAt		zinc finger, MYM-type 6							90.0	89.0	89.0					1																	35453087		1841	4083	5924	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35453087C>T	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.3596G>A	1.37:g.35453087C>T	ENSP00000349708:p.Ser1199Asn					ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Intron	p.S1199N	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			16	3823	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	1199					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.3596G>A	CCDS387.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.004	-2.320864	0.00232	.	.	ENSG00000163867	ENST00000357182	T	0.25085	1.82	4.88	1.12	0.20585	Ribonuclease H-like (1);	0.823849	0.11103	N	0.599400	T	0.08758	0.0217	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35895	-0.9770	10	0.18276	T	0.48	0.0208	2.7877	0.05378	0.1883:0.2102:0.0:0.6015	.	1199	O95789	ZMYM6_HUMAN	N	1199	ENSP00000349708:S1199N	ENSP00000349708:S1199N	S	-	2	0	ZMYM6	35225674	0.051000	0.20477	0.635000	0.29338	0.580000	0.36256	0.306000	0.19279	0.457000	0.26962	-0.312000	0.09012	AGT		0.368	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		59	77	0	0	0	1	0	59	77				
TMPRSS13	84000	broad.mit.edu	37	11	117780594	117780594	+	Missense_Mutation	SNP	C	C	T	rs185064313	byFrequency	TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr11:117780594C>T	ENST00000430170.2	-	8	1123	c.1036G>A	c.(1036-1038)Ggc>Agc	p.G346S	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G346S|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G346S|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.G346S|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.G311S	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	346	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGGGTGGTGCCGAAGTGCAGA	0.627													C|||	4	0.000798722	0.0	0.0	5008	,	,		20042	0.004		0.0	False		,,,				2504	0.0					ENST00000528626.1																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20						c.(931-933)Ggc>Agc		transmembrane protease, serine 13		C	SER/GLY,SER/GLY,SER/GLY	1,4283		0,1,2141	58.0	66.0	64.0		1036,931,1036	2.5	0.3	11		64	0,8512		0,0,4256	no	missense,missense,missense	TMPRSS13	NM_001077263.2,NM_001206789.1,NM_001206790.1	56,56,56	0,1,6397	TT,TC,CC		0.0,0.0233,0.0078	benign,benign,benign	346/568,311/533,346/492	117780594	1,12795	2142	4256	6398	SO:0001583	missense	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117780594C>T	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.1036G>A	11.37:g.117780594C>T	ENSP00000387702:p.Gly346Ser					TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G346S|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.G346S|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G346S|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.G346S	p.G311S	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	7	1004	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	341			SRCR.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	c.931G>A	CCDS58185.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	13.72	2.320859	0.41096	2.33E-4	0.0	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;T	0.87966	-2.32;-2.32;-2.32;-2.32;-1.47	4.41	2.46	0.29980	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.605571	0.15468	N	0.260741	T	0.69628	0.3132	N	0.20483	0.58	0.23411	N	0.997735	B;P;B;B	0.43314	0.119;0.803;0.084;0.121	B;B;B;B	0.32677	0.008;0.15;0.027;0.021	T	0.59690	-0.7407	10	0.23302	T	0.38	.	4.5097	0.11905	0.1613:0.5992:0.1556:0.084	.	341;341;341;346	E9PHM4;Q9BYE2-4;Q9BYE2;E9PRA0	.;.;TMPSD_HUMAN;.	S	311;341;346;346;346;346	ENSP00000435813:G311S;ENSP00000434279:G346S;ENSP00000387702:G346S;ENSP00000394114:G346S;ENSP00000436502:G346S	ENSP00000337113:G341S	G	-	1	0	TMPRSS13	117285804	0.036000	0.19791	0.262000	0.24481	0.950000	0.60333	1.628000	0.37060	0.443000	0.26582	0.561000	0.74099	GGC		0.627	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		3	35	0	0	0	1	0	3	35				
SYNPO2	171024	broad.mit.edu	37	4	119947910	119947910	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr4:119947910C>T	ENST00000429713.2	+	3	568	c.386C>T	c.(385-387)aCa>aTa	p.T129I	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.T129I|SYNPO2_ENST00000307142.4_Missense_Mutation_p.T129I	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	129						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACCCAGTGCACAGAATTCTTC	0.502																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(385-387)aCa>aTa		synaptopodin 2							59.0	61.0	60.0					4																	119947910		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119947910C>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.386C>T	4.37:g.119947910C>T	ENSP00000395143:p.Thr129Ile					SYNPO2_ENST00000434046.2_Missense_Mutation_p.T129I|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.T129I	p.T129I	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			3	582	+			129					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.386C>T	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	2.612	-0.290602	0.05568	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.08102	3.13;3.14;3.13	5.54	0.579	0.17397	.	0.584723	0.17230	N	0.181968	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B;B;B	0.27117	0.004;0.168;0.011;0.004	B;B;B;B	0.25884	0.001;0.064;0.001;0.001	T	0.40365	-0.9567	10	0.38643	T	0.18	-3.034	5.1893	0.15201	0.3006:0.2754:0.424:0.0	.	129;129;129;129	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	I	129	ENSP00000306015:T129I;ENSP00000395143:T129I;ENSP00000390965:T129I	ENSP00000306015:T129I	T	+	2	0	SYNPO2	120167358	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.097000	0.11042	0.293000	0.22520	-0.353000	0.07706	ACA		0.502	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			25	49	0	0	0	1	0	25	49				
PPARGC1B	133522	broad.mit.edu	37	5	149212836	149212836	+	Silent	SNP	C	C	G	rs377087570		TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr5:149212836C>G	ENST00000309241.5	+	5	1232	c.1200C>G	c.(1198-1200)ccC>ccG	p.P400P	PPARGC1B_ENST00000403750.1_Silent_p.P336P|PPARGC1B_ENST00000360453.4_Silent_p.P361P|PPARGC1B_ENST00000394320.3_Silent_p.P400P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	400					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGCTTCACCCAAGAGCACCG	0.677																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(1198-1200)ccC>ccG		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							41.0	44.0	43.0					5																	149212836		2203	4299	6502	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212836C>G	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.1200C>G	5.37:g.149212836C>G						PPARGC1B_ENST00000360453.4_Silent_p.P361P|PPARGC1B_ENST00000403750.1_Silent_p.P336P|PPARGC1B_ENST00000394320.3_Silent_p.P400P	p.P400P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	1232	+			400					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.1200C>G	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	1.046	-0.677192	0.03378	.	.	ENSG00000155846	ENST00000434684	.	.	.	5.64	4.58	0.56647	.	.	.	.	.	T	0.68732	0.3033	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66548	-0.5896	4	.	.	.	-31.0153	13.7163	0.62697	0.0:0.9163:0.0:0.0837	.	.	.	.	E	87	.	.	Q	+	1	0	PPARGC1B	149193029	0.986000	0.35501	0.967000	0.41034	0.144000	0.21451	0.140000	0.16056	2.657000	0.90304	0.655000	0.94253	CAA		0.677	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		4	70	0	0	0	1	0	4	70				
ACSS1	84532	broad.mit.edu	37	20	25011639	25011639	+	Intron	SNP	A	A	G	rs60849220	byFrequency	TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr20:25011639A>G	ENST00000323482.4	-	3	511				ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000537502.1_Silent_p.F46F|ACSS1_ENST00000542618.1_Intron	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1						acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAGGAGGGCCAAAATGCAGAG	0.517													A|||	471	0.0940495	0.0189	0.1326	5008	,	,		21738	0.0823		0.1799	False		,,,				2504	0.092					ENST00000537502.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(136-138)ttT>ttC		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	A		223,4183		7,209,1987	24.0	22.0	22.0			2.1	0.0	20	dbSNP_129	22	1569,7031		146,1277,2877	no	intron	ACSS1	NM_032501.2		153,1486,4864	GG,GA,AA		18.2442,5.0613,13.7783			25011639	1792,11214	2203	4300	6503	SO:0001627	intron_variant	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:25011639A>G		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.432-45T>C	20.37:g.25011639A>G						ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000323482.4_Intron|ACSS1_ENST00000542618.1_Intron	p.F46F			Q9NUB1	ACS2L_HUMAN			1	1669	-			0			Poly-Ala.		B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	37	c.138T>C	CCDS13167.1																																																																																				0.517	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		3	18	0	0	0	1	0	3	18				
SRP14	6727	broad.mit.edu	37	15	40330522	40330522	+	Silent	SNP	C	C	A			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr15:40330522C>A	ENST00000267884.6	-	3	242	c.171G>T	c.(169-171)ctG>ctT	p.L57L	SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000558720.1_5'UTR|SRP14_ENST00000560773.1_5'UTR|SRP14_ENST00000559081.1_Silent_p.L57L|SRP14-AS1_ENST00000504245.1_lincRNA	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	57					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		TAGCTCTTAACAGACACTTGT	0.448																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(169-171)ctG>ctT		signal recognition particle 14kDa (homologous Alu RNA binding protein)							120.0	114.0	116.0					15																	40330522		1901	4115	6016	SO:0001819	synonymous_variant	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40330522C>A		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"""signal recognition particle 14kD (homologous Alu RNA-binding protein)"""			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.171G>T	15.37:g.40330522C>A						SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000558720.1_5'UTR|SRP14_ENST00000560773.1_5'UTR|SRP14_ENST00000559081.1_Silent_p.L57L	p.L57L	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	3	242	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	57					B5BUF5|Q6B0K5|Q96Q14	Silent	SNP	ENST00000267884.6	37	c.171G>T	CCDS42017.1																																																																																				0.448	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		40	62	1	0	4.32679e-17	1	4.80168e-17	40	62				
AFTPH	54812	broad.mit.edu	37	2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409183.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(64-66)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778672_64778674delGAT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.64_66delGAT	2.37:g.64778681_64778683delGAT	ENSP00000397726:p.Asp26del					AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del	p.D26del			Q6ULP2	AFTIN_HUMAN			2	378_380	+			26					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.64_66delGAT																																																																																					0.409	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		7	252						7	252	---	---	---	---
ZXDC	79364	broad.mit.edu	37	3	126178522	126178522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr3:126178522delT	ENST00000389709.3	-	7	2239	c.2186delA	c.(2185-2187)aagfs	p.K729fs		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	729					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCCTCTCTGCTTTTTTTCCTT	0.522																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(2185-2187)agfs		ZXD family zinc finger C							288.0	315.0	306.0					3																	126178522		2005	4167	6172	SO:0001589	frameshift_variant	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126178522delT	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2186delA	3.37:g.126178522delT	ENSP00000374359:p.Lys729fs						p.K729fs	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	7	2239	-			729					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Frame_Shift_Del	DEL	ENST00000389709.3	37	c.2186delA	CCDS43145.1																																																																																				0.522	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		7	944						7	944	---	---	---	---
CRB2	286204	broad.mit.edu	37	9	126136215	126136216	+	Intron	INS	-	-	G	rs534788085	byFrequency	TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr9:126136215_126136216insG	ENST00000373631.3	+	10	3390				CRB2_ENST00000359999.3_Frame_Shift_Ins_p.G1136fs|CRB2_ENST00000373629.2_Intron	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2						cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ATGGCTGGGCAGGGGGGTGGGC	0.698													GGgGGG|GGGGGG|GGGGGGG|insertion	14	0.00279553	0.0015	0.0072	5008	,	,		12110	0.0		0.003	False		,,,				2504	0.0041					ENST00000359999.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(3403-3408)gcggggfs		crumbs homolog 2 (Drosophila)				13,1767		4,5,881						-3.4	0.0			2	44,3766		11,22,1872	no	intron	CRB2	NM_173689.5		15,27,2753	A1A1,A1R,RR		1.1549,0.7303,1.0197				57,5533				SO:0001627	intron_variant	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126136215_126136216insG	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3389+16->G	9.37:g.126136221_126136221dupG						CRB2_ENST00000373631.3_Intron|CRB2_ENST00000373629.2_Intron	p.AG1135fs			Q5IJ48	CRUM2_HUMAN			10	3496_3497	+			909			EGF-like 14.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Frame_Shift_Ins	INS	ENST00000373631.3	37	c.3405_3406insG	CCDS6852.2																																																																																				0.698	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		3	3						3	3	---	---	---	---
GOLGA2P5	55592	broad.mit.edu	37	12	100562920	100562921	+	RNA	INS	-	-	T	rs58822438		TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr12:100562920_100562921insT	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GGTCTCATTTGTTTTttttttt	0.406																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4																																														55592							g.chr12:100562920_100562921insT																													12.37:g.100562931_100562931dupT								NR_036632.1						0	599	-								Q9NSV2	RNA	INS	ENST00000397112.4	37																																																																																						0.406	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			3	3						3	3	---	---	---	---
DDX52	11056	broad.mit.edu	37	17	36003614	36003614	+	5'Flank	DEL	T	T	-	rs59697282		TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr17:36003614delT	ENST00000349699.2	-	0	0				RP11-697E22.2_ENST00000586163.1_RNA|DDX52_ENST00000394367.3_5'Flank|RP11-697E22.2_ENST00000586950.1_RNA	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				ATTAtttatcttttttttttt	0.507																																						ENST00000586163.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:36003614delT	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475		17.37:g.36003614delT	Exception_encountered					RP11-697E22.2_ENST00000586950.1_RNA								0	590	+								Q86YG1|Q8N213|Q9NVE0|Q9Y482	RNA	DEL	ENST00000349699.2	37		CCDS11323.1																																																																																				0.507	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		2	4						2	4	---	---	---	---
EPS15L1	58513	broad.mit.edu	37	19	16528778	16528785	+	Frame_Shift_Del	DEL	TCCGAAGG	TCCGAAGG	-	rs201102412		TCGA-BA-A4IH-01A-11D-A25Y-08	TCGA-BA-A4IH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde5f95c-db1d-420f-bc33-d32aa1b8d814	d61cf248-b477-4677-81b8-43448f607e3d	g.chr19:16528778_16528785delTCCGAAGG	ENST00000248070.6	-	11	1220_1227	c.1081_1088delCCTTCGGA	c.(1081-1089)ccttcggagfs	p.PSE361fs	EPS15L1_ENST00000597937.1_Frame_Shift_Del_p.PSE361fs|EPS15L1_ENST00000455140.2_Frame_Shift_Del_p.PSE361fs|EPS15L1_ENST00000602009.1_Frame_Shift_Del_p.PSE207fs|EPS15L1_ENST00000535753.2_Frame_Shift_Del_p.PSE361fs|EPS15L1_ENST00000594975.1_Frame_Shift_Del_p.PSE361fs	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	361	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CGTGCCTCTCTCCGAAGGCGGGACCATG	0.587											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000602009.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(619-627)gfs		epidermal growth factor receptor pathway substrate 15-like 1																																				SO:0001589	frameshift_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16528778_16528785delTCCGAAGG	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1081_1088delCCTTCGGA	19.37:g.16528778_16528785delTCCGAAGG	ENSP00000248070:p.Pro361fs		OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	711	EPS15L1_ENST00000594975.1_Frame_Shift_Del_p.PSE361fs|EPS15L1_ENST00000455140.2_Frame_Shift_Del_p.PSE361fs|EPS15L1_ENST00000597937.1_Frame_Shift_Del_p.PSE361fs|EPS15L1_ENST00000535753.2_Frame_Shift_Del_p.PSE361fs|EPS15L1_ENST00000248070.6_Frame_Shift_Del_p.PSE361fs	p.PSE207fs			Q9UBC2	EP15R_HUMAN			5	1514_1521	-			361			EH 2.		A2RRF3|A5PL29|B4DKA3	Frame_Shift_Del	DEL	ENST00000248070.6	37	c.619_626delCCTTCGGA	CCDS32944.1																																																																																				0.587	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		50	14						50	14	---	---	---	---
