#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
N4BP1	9683	broad.mit.edu	37	16	48595409	48595409	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr16:48595409T>A	ENST00000262384.3	-	2	1381	c.1145A>T	c.(1144-1146)gAg>gTg	p.E382V	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	382					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTCAATTTCCTCTAAGAGCAA	0.343																																						ENST00000262384.3																			0				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17						c.(1144-1146)gAg>gTg		NEDD4 binding protein 1							47.0	46.0	46.0					16																	48595409		1809	4069	5878	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48595409T>A	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1145A>T	16.37:g.48595409T>A	ENSP00000262384:p.Glu382Val					RP11-44I10.3_ENST00000563994.1_RNA	p.E382V	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN			2	1381	-		all_cancers(37;0.179)|all_lung(18;0.11)	382					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.1145A>T	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.647872	0.67358	.	.	ENSG00000102921	ENST00000262384	T	0.58358	0.34	5.78	4.69	0.59074	.	0.045675	0.85682	D	0.000000	T	0.57621	0.2066	L	0.34521	1.04	0.51482	D	0.999921	D	0.63880	0.993	P	0.60949	0.881	T	0.60378	-0.7275	10	0.87932	D	0	-20.8692	11.7993	0.52118	0.0:0.0685:0.0:0.9315	.	382	O75113	N4BP1_HUMAN	V	382	ENSP00000262384:E382V	ENSP00000262384:E382V	E	-	2	0	N4BP1	47152910	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.365000	0.79537	1.027000	0.39758	0.533000	0.62120	GAG		0.343	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		18	38	0	0	0	1	0	18	38				
MRPL38	64978	broad.mit.edu	37	17	73895047	73895047	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr17:73895047C>T	ENST00000309352.3	-	9	1564	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Missense_Mutation_p.E159K|TRIM65_ENST00000269383.3_5'Flank|MRPL38_ENST00000585475.1_5'Flank	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	343						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCACGAACTCAAACACCGGC	0.682																																						ENST00000309352.3																			0				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5						c.(1027-1029)Gag>Aag		mitochondrial ribosomal protein L38							23.0	28.0	27.0					17																	73895047		2199	4298	6497	SO:0001583	missense	64978					actin cytoskeleton|mitochondrion|ribosome		g.chr17:73895047C>T	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"""Mitochondrial ribosomal proteins / large subunits"""	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.1027G>A	17.37:g.73895047C>T	ENSP00000308275:p.Glu343Lys					MRPL38_ENST00000409963.3_Missense_Mutation_p.E159K|RP11-552F3.10_ENST00000587267.1_RNA	p.E343K	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		9	1564	-			343					B3KN96|Q96Q66|Q9P0B9	Missense_Mutation	SNP	ENST00000309352.3	37	c.1027G>A	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	C	36	5.630079	0.96671	.	.	ENSG00000204316	ENST00000309352;ENST00000409963	T;T	0.22945	1.93;1.93	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	M	0.78344	2.41	0.80722	D	1	D	0.67145	0.996	P	0.61940	0.896	T	0.54827	-0.8235	10	0.51188	T	0.08	-30.4661	17.5946	0.88007	0.0:1.0:0.0:0.0	.	343	Q96DV4	RM38_HUMAN	K	343;159	ENSP00000308275:E343K;ENSP00000387085:E159K	ENSP00000308275:E343K	E	-	1	0	MRPL38	71406642	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	5.590000	0.67530	2.380000	0.81148	0.511000	0.50034	GAG		0.682	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478		4	21	0	0	0	1	0	4	21				
TRPC4	7223	broad.mit.edu	37	13	38357404	38357404	+	Missense_Mutation	SNP	C	C	A	rs536515396		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr13:38357404C>A	ENST00000379705.3	-	2	924	c.67G>T	c.(67-69)Gta>Tta	p.V23L	TRPC4_ENST00000426868.2_Missense_Mutation_p.V23L|TRPC4_ENST00000355779.2_Missense_Mutation_p.V23L|TRPC4_ENST00000379673.2_Missense_Mutation_p.V23L|TRPC4_ENST00000358477.2_Missense_Mutation_p.V23L|TRPC4_ENST00000447043.1_Missense_Mutation_p.V23L|TRPC4_ENST00000338947.5_Missense_Mutation_p.V23L|TRPC4_ENST00000379679.1_Missense_Mutation_p.V23L|TRPC4_ENST00000379681.3_Missense_Mutation_p.V23L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	23					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCTGCTCTTACTATCCTTAGA	0.423																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(67-69)Gta>Tta		transient receptor potential cation channel, subfamily C, member 4							147.0	138.0	141.0					13																	38357404		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38357404C>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.67G>T	13.37:g.38357404C>A	ENSP00000369027:p.Val23Leu					TRPC4_ENST00000379681.3_Missense_Mutation_p.V23L|TRPC4_ENST00000447043.1_Missense_Mutation_p.V23L|TRPC4_ENST00000379673.2_Missense_Mutation_p.V23L|TRPC4_ENST00000379679.1_Missense_Mutation_p.V23L|TRPC4_ENST00000426868.2_Missense_Mutation_p.V23L|TRPC4_ENST00000358477.2_Missense_Mutation_p.V23L|TRPC4_ENST00000355779.2_Missense_Mutation_p.V23L|TRPC4_ENST00000338947.5_Missense_Mutation_p.V23L	p.V23L			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	2	924	-			23					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.67G>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536552	0.85812	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.74526	-0.23;-0.23;0.06;0.06;-0.85;0.31;-0.15;-0.41;0.31	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.72423	0.3458	L	0.34521	1.04	0.48040	D	0.999576	P;P;P;P;P;P	0.48998	0.857;0.918;0.738;0.738;0.857;0.908	P;P;B;B;P;P	0.51385	0.668;0.596;0.276;0.276;0.668;0.607	T	0.64984	-0.6278	10	0.02654	T	1	-27.1189	20.8598	0.99761	0.0:1.0:0.0:0.0	.	23;23;23;23;23;23	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	L	23	ENSP00000369027:V23L;ENSP00000369003:V23L;ENSP00000342580:V23L;ENSP00000369001:V23L;ENSP00000410133:V23L;ENSP00000348025:V23L;ENSP00000351264:V23L;ENSP00000368995:V23L;ENSP00000414316:V23L	ENSP00000342580:V23L	V	-	1	0	TRPC4	37255404	1.000000	0.71417	0.661000	0.29709	0.936000	0.57629	6.023000	0.70848	2.937000	0.99478	0.650000	0.86243	GTA		0.423	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		15	85	1	0	4.7546e-09	1	5.24988e-09	15	85				
OR4D11	219986	broad.mit.edu	37	11	59271628	59271628	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr11:59271628G>T	ENST00000313253.1	+	1	580	c.580G>T	c.(580-582)Gct>Tct	p.A194S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGACACTTTTGCTCTTGAGTT	0.493																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(580-582)Gct>Tct		olfactory receptor, family 4, subfamily D, member 11							234.0	221.0	226.0					11																	59271628		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271628G>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.580G>T	11.37:g.59271628G>T	ENSP00000320077:p.Ala194Ser						p.A194S	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	580	+			194						Missense_Mutation	SNP	ENST00000313253.1	37	c.580G>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	g	6.454	0.451999	0.12283	.	.	ENSG00000176200	ENST00000313253	T	0.00076	8.76	5.44	-5.93	0.02254	GPCR, rhodopsin-like superfamily (1);	1.146050	0.06555	N	0.745682	T	0.00073	0.0002	N	0.16478	0.41	0.09310	N	1	B	0.09022	0.002	B	0.18263	0.021	T	0.15037	-1.0451	10	0.56958	D	0.05	-0.2591	3.1557	0.06503	0.2637:0.1912:0.449:0.0961	.	194	Q8NGI4	OR4DB_HUMAN	S	194	ENSP00000320077:A194S	ENSP00000320077:A194S	A	+	1	0	OR4D11	59028204	0.000000	0.05858	0.004000	0.12327	0.022000	0.10575	-0.387000	0.07361	-0.401000	0.07644	-0.484000	0.04775	GCT		0.493	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		39	62	1	0	2.87052e-16	1	3.38083e-16	39	62				
HEY2	23493	broad.mit.edu	37	6	126080565	126080565	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:126080565C>T	ENST00000368364.3	+	5	828	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	HEY2_ENST00000368365.1_Missense_Mutation_p.R165C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	211					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		AACCCCTTGTCGCCTCTCCAC	0.657																																						ENST00000368364.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(631-633)Cgc>Tgc		hes-related family bHLH transcription factor with YRPW motif 2							143.0	140.0	141.0					6																	126080565		2199	4300	6499	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080565C>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.631C>T	6.37:g.126080565C>T	ENSP00000357348:p.Arg211Cys					HEY2_ENST00000368365.1_Missense_Mutation_p.R165C	p.R211C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	828	+			211						Missense_Mutation	SNP	ENST00000368364.3	37	c.631C>T	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813984	0.70912	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.59502	0.26;0.26	5.59	5.59	0.84812	.	0.423007	0.20963	N	0.082529	T	0.55081	0.1898	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	P	0.59487	0.858	T	0.57969	-0.7719	10	0.54805	T	0.06	-20.7655	12.6586	0.56801	0.2763:0.7237:0.0:0.0	.	211	Q9UBP5	HEY2_HUMAN	C	165;211	ENSP00000357349:R165C;ENSP00000357348:R211C	ENSP00000357348:R211C	R	+	1	0	HEY2	126122258	0.988000	0.35896	0.987000	0.45799	0.907000	0.53573	2.571000	0.45990	2.625000	0.88918	0.561000	0.74099	CGC		0.657	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			11	153	0	0	0	1	0	11	153				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	48	0	0	0	1	0	4	48				
CCDC108	255101	broad.mit.edu	37	2	219869028	219869028	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:219869028G>A	ENST00000341552.5	-	33	5284	c.5201C>T	c.(5200-5202)cCc>cTc	p.P1734L	CCDC108_ENST00000441968.1_Missense_Mutation_p.P1734L|AC097468.4_ENST00000441450.1_RNA|MIR375_ENST00000362103.2_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.P1734L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1734						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGCTGGAGGGTACAGGCAG	0.542																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(5200-5202)cCc>cTc		coiled-coil domain containing 108							172.0	164.0	167.0					2																	219869028		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219869028G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5201C>T	2.37:g.219869028G>A	ENSP00000340776:p.Pro1734Leu					CCDC108_ENST00000453220.1_Missense_Mutation_p.P1734L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1734L|AC097468.4_ENST00000441450.1_RNA	p.P1734L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	33	5284	-		Renal(207;0.0915)	1734					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.5201C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914586	0.33815	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.07567	3.18;3.18;3.18	4.39	3.48	0.39840	.	0.423833	0.17662	N	0.166294	T	0.09423	0.0232	L	0.50333	1.59	0.26819	N	0.968824	P	0.36535	0.557	B	0.33620	0.167	T	0.13098	-1.0522	10	0.87932	D	0	-7.0126	12.2673	0.54684	0.0918:0.0:0.9082:0.0	.	1734	Q6ZU64	CC108_HUMAN	L	1734	ENSP00000340776:P1734L;ENSP00000413377:P1734L;ENSP00000409117:P1734L	ENSP00000340776:P1734L	P	-	2	0	CCDC108	219577272	0.005000	0.15991	0.185000	0.23176	0.034000	0.12701	1.361000	0.34136	2.190000	0.69967	0.511000	0.50034	CCC		0.542	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		64	79	0	0	0	1	0	64	79				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T	rs184555335	byFrequency	TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413													.|||	2313	0.461861	0.4849	0.4121	5008	,	,		9054	0.4554		0.4632	False		,,,				2504	0.4714					ENST00000414190.2																			0																																																			0							g.chr15:85053142C>T																													15.37:g.85053142C>T								NR_003246.2						0	310	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.413	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			4	10	0	0	0	1	0	4	10				
VIP	7432	broad.mit.edu	37	6	153075402	153075402	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:153075402C>A	ENST00000367244.3	+	3	381	c.209C>A	c.(208-210)aCa>aAa	p.T70K	VIP_ENST00000367243.3_Missense_Mutation_p.T70K	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	70					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		GAAAATGACACACCCTATTAT	0.313																																						ENST00000367244.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6						c.(208-210)aCa>aAa		vasoactive intestinal peptide							94.0	92.0	92.0					6																	153075402		2203	4299	6502	SO:0001583	missense	7432				body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity	g.chr6:153075402C>A		CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"""Endogenous ligands"""	12693	protein-coding gene	gene with protein product	"""prepro-VIP"""	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.209C>A	6.37:g.153075402C>A	ENSP00000356213:p.Thr70Lys					VIP_ENST00000367243.3_Missense_Mutation_p.T70K	p.T70K	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)	3	381	+		Ovarian(120;0.0654)	70					Q5TCY8|Q5TCY9|Q96QK3	Missense_Mutation	SNP	ENST00000367244.3	37	c.209C>A	CCDS5240.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.46|11.46	1.645100|1.645100	0.29246|0.29246	.|.	.|.	ENSG00000146469|ENSG00000146469	ENST00000431366|ENST00000367244;ENST00000367243	.|T;T	.|0.21191	.|2.02;2.02	5.58|5.58	2.42|2.42	0.29668|0.29668	.|.	.|0.299990	.|0.31673	.|N	.|0.007247	T|T	0.02119|0.02119	0.0066|0.0066	N|N	0.11560|0.11560	0.145|0.145	0.28939|0.28939	N|N	0.891076|0.891076	.|B;B;B	.|0.09022	.|0.001;0.002;0.001	.|B;B;B	.|0.08055	.|0.001;0.003;0.001	T|T	0.46133|0.46133	-0.9213|-0.9213	5|10	.|0.02654	.|T	.|1	.|.	6.907|6.907	0.24315|0.24315	0.5573:0.3523:0.0:0.0904|0.5573:0.3523:0.0:0.0904	.|.	.|70;70;70	.|A8K7E4;P01282-2;P01282	.|.;.;VIP_HUMAN	Q|K	19|70	.|ENSP00000356213:T70K;ENSP00000356212:T70K	.|ENSP00000356212:T70K	H|T	+|+	3|2	2|0	VIP|VIP	153117095|153117095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	2.175000|2.175000	0.42491|0.42491	1.332000|1.332000	0.45431|0.45431	0.585000|0.585000	0.79938|0.79938	CAC|ACA		0.313	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042751.1			13	39	1	0	4.14922e-12	1	4.6789e-12	13	39				
RPS6KA1	6195	broad.mit.edu	37	1	26898725	26898725	+	Missense_Mutation	SNP	G	G	A	rs369721857		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:26898725G>A	ENST00000374168.2	+	20	2042	c.1888G>A	c.(1888-1890)Ggc>Agc	p.G630S	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.G614S|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.G538S|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.G538S|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.G639S|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.G619S	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	630	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AACCCGGATCGGCAGTGGGAA	0.547																																						ENST00000374168.2																			0				lung(1)	1						c.(1888-1890)Ggc>Agc		ribosomal protein S6 kinase, 90kDa, polypeptide 1		G	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	88.0	83.0	84.0		1915,1888	4.2	1.0	1		84	0,8600		0,0,4300	no	missense,missense	RPS6KA1	NM_001006665.1,NM_002953.3	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	639/745,630/736	26898725	1,13005	2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26898725G>A	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1888G>A	1.37:g.26898725G>A	ENSP00000363283:p.Gly630Ser					RPS6KA1_ENST00000530003.1_Missense_Mutation_p.G614S|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.G538S|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.G639S|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.G619S|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.G538S	p.G630S	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	20	2042	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	630			Protein kinase 2.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.1888G>A	CCDS284.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994389	0.74703	2.27E-4	0.0	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.16	4.24	0.50183	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046792	0.85682	D	0.000000	T	0.51517	0.1679	N	0.25647	0.755	0.80722	D	1	P;P	0.50066	0.857;0.931	B;B	0.43225	0.22;0.412	T	0.56444	-0.7978	10	0.52906	T	0.07	.	14.1739	0.65527	0.0729:0.0:0.9271:0.0	.	639;630	Q15418-2;Q15418	.;KS6A1_HUMAN	S	630;619;538;538;614;639	ENSP00000363283:G630S;ENSP00000363281:G619S;ENSP00000431651:G538S;ENSP00000363277:G538S;ENSP00000432281:G614S;ENSP00000435412:G639S	ENSP00000363277:G538S	G	+	1	0	RPS6KA1	26771312	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.757000	0.85209	1.373000	0.46208	0.563000	0.77884	GGC		0.547	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		9	47	0	0	0	1	0	9	47				
KRTDAP	388533	broad.mit.edu	37	19	35979707	35979707	+	Silent	SNP	G	G	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr19:35979707G>T	ENST00000338897.3	-	2	211	c.123C>A	c.(121-123)ccC>ccA	p.P41P	KRTDAP_ENST00000479340.1_5'UTR|KRTDAP_ENST00000484218.2_Silent_p.P41P	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	41					cell differentiation (GO:0030154)	extracellular region (GO:0005576)				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCTTACCTCGGGTCGTGACG	0.552																																						ENST00000338897.3																			0				breast(1)|lung(4)|prostate(1)	6						c.(121-123)ccC>ccA		keratinocyte differentiation-associated protein							62.0	60.0	60.0					19																	35979707		2203	4300	6503	SO:0001819	synonymous_variant	388533				cell differentiation	extracellular region		g.chr19:35979707G>T	AA297512	CCDS12462.1, CCDS59377.1	19q13.12	2013-06-20			ENSG00000188508	ENSG00000188508			16313	protein-coding gene	gene with protein product						11054531	Standard	NM_207392		Approved	KDAP, UNQ467	uc002nzh.3	P60985	OTTHUMG00000155449	ENST00000338897.3:c.123C>A	19.37:g.35979707G>T						KRTDAP_ENST00000484218.2_Silent_p.P41P|KRTDAP_ENST00000479340.1_5'UTR	p.P41P	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	211	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		41					A1L4D7	Silent	SNP	ENST00000338897.3	37	c.123C>A	CCDS12462.1																																																																																				0.552	KRTDAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340164.1			4	14	1	0	0.00024832	1	0.000263219	4	14				
ANKRD20A8P	729171	broad.mit.edu	37	2	95511108	95511108	+	RNA	SNP	A	A	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:95511108A>G	ENST00000432432.2	-	0	906				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		TAAGAAATTCACAATCAGAAG	0.284																																						ENST00000432432.2																			0																																																			0							g.chr2:95511108A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95511108A>G								NR_040113.1						0	906	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.284	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			28	38	0	0	0	1	0	28	38				
MUC17	140453	broad.mit.edu	37	7	100676909	100676909	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:100676909C>T	ENST00000306151.4	+	3	2276	c.2212C>T	c.(2212-2214)Cca>Tca	p.P738S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	738	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P738S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCCAGTATGCCAACCTCAAC	0.502																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P738S(1)	kidney(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2212-2214)Cca>Tca		mucin 17, cell surface associated							309.0	307.0	308.0					7																	100676909		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676909C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2212C>T	7.37:g.100676909C>T	ENSP00000302716:p.Pro738Ser						p.P738S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2276	+	Lung NSC(181;0.136)|all_lung(186;0.182)		738			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2212C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.295	-0.606490	0.03717	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	1.22	-1.07	0.09968	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.48364	-0.9042	9	0.07990	T	0.79	.	4.1751	0.10348	0.0:0.5457:0.0:0.4543	.	738	Q685J3	MUC17_HUMAN	S	738	ENSP00000302716:P738S	ENSP00000302716:P738S	P	+	1	0	MUC17	100463629	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.249000	0.02888	-0.341000	0.08376	-0.531000	0.04308	CCA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	403	0	0	0	1	0	6	403				
MID1IP1	58526	broad.mit.edu	37	X	38664286	38664286	+	Missense_Mutation	SNP	C	C	G	rs372188024		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:38664286C>G	ENST00000336949.6	+	2	1032	c.87C>G	c.(85-87)gaC>gaG	p.D29E	MID1IP1_ENST00000457894.1_Missense_Mutation_p.D29E|MID1IP1_ENST00000378474.3_Missense_Mutation_p.D29E|MID1IP1-AS1_ENST00000436893.1_RNA	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	29					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						ACAACATGGACCAGACGGTGA	0.612																																						ENST00000336949.6																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(85-87)gaC>gaG		MID1 interacting protein 1							106.0	70.0	82.0					X																	38664286		2202	4300	6502	SO:0001583	missense	58526				lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		g.chrX:38664286C>G		CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"""gastrulation specific G12 homolog (zebrafish)"""		"""MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"""				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.87C>G	X.37:g.38664286C>G	ENSP00000338706:p.Asp29Glu					MID1IP1_ENST00000378474.3_Missense_Mutation_p.D29E|MID1IP1_ENST00000457894.1_Missense_Mutation_p.D29E	p.D29E	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN			2	1032	+			29					D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	37	c.87C>G	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170001	0.78452	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.84	4.84	0.62591	.	0.113796	0.56097	D	0.000022	T	0.61198	0.2328	L	0.33753	1.03	0.58432	D	0.999997	D	0.67145	0.996	D	0.63283	0.913	T	0.62191	-0.6906	9	0.51188	T	0.08	0.8389	10.5078	0.44845	0.0:0.908:0.0:0.092	.	29	Q9NPA3	M1IP1_HUMAN	E	29	.	ENSP00000338706:D29E	D	+	3	2	MID1IP1	38549230	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.570000	0.53834	2.243000	0.73865	0.529000	0.55759	GAC		0.612	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1			18	37	0	0	0	1	0	18	37				
ZNF629	23361	broad.mit.edu	37	16	30793291	30793291	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr16:30793291G>C	ENST00000262525.4	-	3	2565	c.2358C>G	c.(2356-2358)caC>caG	p.H786Q	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	786					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGGTTTCTTGGTGCCGGGTGA	0.657																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2356-2358)caC>caG		zinc finger protein 629							85.0	100.0	95.0					16																	30793291		1908	4116	6024	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793291G>C	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2358C>G	16.37:g.30793291G>C	ENSP00000262525:p.His786Gln						p.H786Q	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2565	-			786					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.2358C>G	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422759	0.62733	.	.	ENSG00000102870	ENST00000262525	T	0.35048	1.33	5.65	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000473	T	0.58595	0.2133	M	0.87827	2.91	0.32710	N	0.511763	D	0.69078	0.997	D	0.68039	0.955	T	0.69146	-0.5222	10	0.87932	D	0	-36.8824	9.6059	0.39632	0.3009:0.0:0.6991:0.0	.	786	Q9UEG4	ZN629_HUMAN	Q	786	ENSP00000262525:H786Q	ENSP00000262525:H786Q	H	-	3	2	ZNF629	30700792	0.539000	0.26402	0.998000	0.56505	0.763000	0.43281	0.950000	0.29122	0.328000	0.23435	0.561000	0.74099	CAC		0.657	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		47	85	0	0	0	1	0	47	85				
PABPC4	8761	broad.mit.edu	37	1	40029556	40029556	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:40029556C>A	ENST00000372857.3	-	11	2236	c.1444G>T	c.(1444-1446)Ggg>Tgg	p.G482W	PABPC4_ENST00000372862.3_Intron|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.G498W|PABPC4_ENST00000372856.3_Intron	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	482					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCACCAGCCCCACCAAAGTCC	0.582																																						ENST00000372857.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1444-1446)Ggg>Tgg		poly(A) binding protein, cytoplasmic 4 (inducible form)							71.0	70.0	70.0					1																	40029556		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40029556C>A	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1444G>T	1.37:g.40029556C>A	ENSP00000361948:p.Gly482Trp					PABPC4_ENST00000372858.3_Missense_Mutation_p.G498W|PABPC4_ENST00000372862.3_Intron|PABPC4_ENST00000372856.3_Intron	p.G482W	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		11	2236	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	482					B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1444G>T	CCDS438.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820431	0.50633	.	.	ENSG00000090621	ENST00000372858;ENST00000372857	T;T	0.50813	2.38;0.73	4.22	4.22	0.49857	.	0.000000	0.56097	D	0.000030	T	0.32436	0.0829	N	0.14661	0.345	0.80722	D	1	B;B	0.32396	0.0;0.369	B;B	0.36289	0.003;0.221	T	0.15896	-1.0421	10	0.37606	T	0.19	.	12.3787	0.55295	0.0:1.0:0.0:0.0	.	482;498	Q13310;Q4VC03	PABP4_HUMAN;.	W	498;482	ENSP00000361949:G498W;ENSP00000361948:G482W	ENSP00000361948:G482W	G	-	1	0	PABPC4	39802143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.489000	0.53237	2.633000	0.89246	0.561000	0.74099	GGG		0.582	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		11	31	1	0	0.010729	1	0.010729	11	31				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Agt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>A	2.37:g.209113113G>T	ENSP00000390265:p.Arg132Ser					IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	p.R132S			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588857	0.86851	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.60682	0.878	D	0.98220	1.0477	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	S	132	ENSP00000260985:R132S;ENSP00000410513:R132S;ENSP00000390265:R132S;ENSP00000391075:R132S	ENSP00000260985:R132S	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	46	1	0	5.60225e-13	1	6.45477e-13	30	46				
SELENBP1	8991	broad.mit.edu	37	1	151338088	151338088	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:151338088A>G	ENST00000368868.5	-	9	1086	c.995T>C	c.(994-996)cTg>cCg	p.L332P	SELENBP1_ENST00000447402.3_Missense_Mutation_p.L270P|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000435071.1_Missense_Mutation_p.L268P|SELENBP1_ENST00000426705.2_Missense_Mutation_p.L374P	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	332					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATACTGCCTCAGGTCCCCATG	0.592																																						ENST00000426705.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(1120-1122)cTg>cCg		selenium binding protein 1							127.0	138.0	134.0					1																	151338088		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151338088A>G	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.995T>C	1.37:g.151338088A>G	ENSP00000357861:p.Leu332Pro					SELENBP1_ENST00000447402.3_Missense_Mutation_p.L270P|SELENBP1_ENST00000368868.5_Missense_Mutation_p.L332P|SELENBP1_ENST00000435071.1_Missense_Mutation_p.L268P	p.L374P	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	1265	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		332					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.1121T>C	CCDS995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.3|23.3	4.399047|4.399047	0.83120|0.83120	.|.	.|.	ENSG00000143416|ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071|ENST00000424475	T;T;T|.	0.36520|.	1.25;1.25;1.25|.	5.24|5.24	5.24|5.24	0.73138|0.73138	WD40/YVTN repeat-like-containing domain (1);|.	0.454938|.	0.23032|.	N|.	0.052733|.	T|.	0.63674|.	0.2531|.	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P;P;P|.	0.59357|.	0.963;0.985;0.943;0.928;0.943|.	P;P;P;P;P|.	0.62649|.	0.671;0.905;0.776;0.718;0.853|.	T|.	0.65294|.	-0.6203|.	10|.	0.87932|.	D|.	0|.	-0.4125|-0.4125	13.9502|13.9502	0.64111|0.64111	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	270;292;185;268;332|.	B4E1F3;A6PVW8;B4DPI7;Q13228-2;Q13228|.	.;.;.;.;SBP1_HUMAN|.	P|R	332;270;268|293	ENSP00000357861:L332P;ENSP00000413960:L270P;ENSP00000408263:L268P|.	ENSP00000357861:L332P|.	L|X	-|-	2|1	0|0	SELENBP1|SELENBP1	149604712|149604712	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.816000|0.816000	0.46133|0.46133	8.589000|8.589000	0.90817|0.90817	1.983000|1.983000	0.57843|0.57843	0.533000|0.533000	0.62120|0.62120	CTG|TGA		0.592	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			4	97	0	0	0	1	0	4	97				
TTC30B	150737	broad.mit.edu	37	2	178416267	178416267	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:178416267T>G	ENST00000408939.3	-	1	1475	c.1225A>C	c.(1225-1227)Atc>Ctc	p.I409L		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	409					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCCTTTTTGATAGCTTCATCA	0.398																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1225-1227)Atc>Ctc		tetratricopeptide repeat domain 30B							260.0	267.0	264.0					2																	178416267		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416267T>G	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1225A>C	2.37:g.178416267T>G	ENSP00000386181:p.Ile409Leu						p.I409L	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	1475	-			409					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.1225A>C	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	T	0.677	-0.799595	0.02841	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.37058	1.22	4.53	-0.00153	0.14034	Tetratricopeptide-like helical (1);	0.469325	0.23742	N	0.045010	T	0.12050	0.0293	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33624	-0.9861	10	0.02654	T	1	.	6.462	0.21962	0.0:0.5355:0.1678:0.2967	.	409	Q8N4P2	TT30B_HUMAN	L	362;409	ENSP00000386181:I409L	ENSP00000386181:I409L	I	-	1	0	TTC30B	178124513	0.781000	0.28676	0.529000	0.27951	0.955000	0.61496	0.061000	0.14366	-0.110000	0.12022	-0.408000	0.06270	ATC		0.398	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		5	220	0	0	0	1	0	5	220				
NUP188	23511	broad.mit.edu	37	9	131755536	131755536	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr9:131755536T>C	ENST00000372577.2	+	26	2722	c.2701T>C	c.(2701-2703)Ttc>Ctc	p.F901L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	901					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCGTGATGCCTTCCTGACCCG	0.532											OREG0019527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(2701-2703)Ttc>Ctc		nucleoporin 188kDa							133.0	125.0	128.0					9																	131755536		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131755536T>C	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2701T>C	9.37:g.131755536T>C	ENSP00000361658:p.Phe901Leu		OREG0019527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1590		p.F901L	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			26	2722	+			901					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.2701T>C	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	T	36	5.645691	0.96704	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.53857	0.6	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	L	0.29908	0.895	0.80722	D	1	P;D	0.63046	0.536;0.992	B;D	0.76071	0.223;0.987	T	0.60860	-0.7179	10	0.39692	T	0.17	-15.9844	15.6859	0.77409	0.0:0.0:0.0:1.0	.	234;901	E9PET9;Q5SRE5	.;NU188_HUMAN	L	790;901	ENSP00000361658:F901L	ENSP00000349125:F790L	F	+	1	0	NUP188	130795357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.502000	0.81614	2.297000	0.77311	0.533000	0.62120	TTC		0.532	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			9	91	0	0	0	1	0	9	91				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	119	0	0	0	1	0	6	119				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A	rs201214605		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731																																						ENST00000432432.2																			2	Substitution - Missense(2)	p.R64L(2)	lung(1)|kidney(1)																																																0							g.chr2:95522727C>A			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522727C>A								NR_040113.1						0	300	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.731	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	22	1	0	0.00116845	1	0.00121427	3	22				
SEC16B	89866	broad.mit.edu	37	1	177929520	177929520	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:177929520C>T	ENST00000308284.6	-	8	1044	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.E320K	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	319					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCTTGCTCTTCGGAATCATTA	0.428																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(955-957)Gaa>Aaa		SEC16 homolog B (S. cerevisiae)							51.0	48.0	49.0					1																	177929520		1834	4098	5932	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177929520C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.955G>A	1.37:g.177929520C>T	ENSP00000308339:p.Glu319Lys					RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_Intron|SEC16B_ENST00000464631.1_Missense_Mutation_p.E320K	p.E319K	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			8	1044	-			319					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.955G>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	5.543	0.285077	0.10513	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.44482	0.92;0.92	5.9	4.98	0.66077	Sec16, central conserved domain (1);	0.295166	0.31051	N	0.008342	T	0.20251	0.0487	L	0.28192	0.835	0.29659	N	0.84333	P;P;P	0.45827	0.707;0.867;0.472	B;B;B	0.32805	0.069;0.153;0.121	T	0.16100	-1.0414	10	0.06625	T	0.88	-29.7601	10.0739	0.42349	0.0:0.8596:0.0:0.1404	.	320;320;319	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	K	319;320	ENSP00000308339:E319K;ENSP00000431727:E320K	ENSP00000308339:E319K	E	-	1	0	AL359075.1	176196143	0.773000	0.28580	0.991000	0.47740	0.197000	0.23852	0.862000	0.27899	2.788000	0.95919	0.650000	0.86243	GAA		0.428	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		3	6	0	0	0	1	0	3	6				
MUC16	94025	broad.mit.edu	37	19	9087491	9087491	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr19:9087491G>A	ENST00000397910.4	-	1	4527	c.4324C>T	c.(4324-4326)Ccc>Tcc	p.P1442S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1442	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACCAGGGGTTCCCCTGGG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(4324-4326)Ccc>Tcc		mucin 16, cell surface associated							114.0	111.0	112.0					19																	9087491		1961	4145	6106	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087491G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4324C>T	19.37:g.9087491G>A	ENSP00000381008:p.Pro1442Ser						p.P1442S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4527	-			1442			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.4324C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.361	-0.588833	0.03799	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	1.0	-0.165	0.13355	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	.	.	.	B	0.10296	0.003	B	0.06405	0.002	T	0.42582	-0.9443	8	0.87932	D	0	.	2.9232	0.05776	0.6308:0.0:0.3692:0.0	.	1442	B5ME49	.	S	1442	ENSP00000381008:P1442S	ENSP00000381008:P1442S	P	-	1	0	MUC16	8948491	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.113000	0.10774	-0.105000	0.12132	0.305000	0.20034	CCC		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	66	0	0	0	1	0	12	66				
HLA-DMA	3108	broad.mit.edu	37	6	32918314	32918314	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:32918314T>G	ENST00000374843.4	-	2	440	c.355A>C	c.(355-357)Aaa>Caa	p.K119Q	HLA-DMA_ENST00000395305.3_Intron|HLA-DMA_ENST00000464392.1_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.K119Q|XXbac-BPG181M17.5_ENST00000429234.1_Intron	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	119	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)			kidney(1)|large_intestine(2)|lung(8)	11						ACCGGGATTTTCCCATCAAGT	0.488																																						ENST00000374843.4																			0				kidney(1)|large_intestine(2)|lung(8)	11						c.(355-357)Aaa>Caa		major histocompatibility complex, class II, DM alpha							168.0	204.0	191.0					6																	32918314		1507	2707	4214	SO:0001583	missense	3108					integral to membrane|MHC class II protein complex		g.chr6:32918314T>G		CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.355A>C	6.37:g.32918314T>G	ENSP00000363976:p.Lys119Gln					HLA-DMA_ENST00000395305.3_Intron|HLA-DMA_ENST00000464392.1_Intron|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.K119Q	p.K119Q	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN			2	440	-			119					Q29639|Q29640	Missense_Mutation	SNP	ENST00000374843.4	37	c.355A>C	CCDS4761.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.718883	0.30503	.	.	ENSG00000204257	ENST00000395303;ENST00000374843;ENST00000456800;ENST00000422832;ENST00000341486	T;T;T;T	0.00745	5.75;5.75;5.75;5.75	5.39	-8.67	0.00863	MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	1.353090	0.04457	N	0.373690	T	0.00178	0.0005	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41431	-0.9509	10	0.21540	T	0.41	.	9.248	0.37539	0.0668:0.0834:0.1344:0.7153	.	119;119	P28067;Q31604	DMA_HUMAN;.	Q	119;119;149;86;111	ENSP00000378714:K119Q;ENSP00000363976:K119Q;ENSP00000409668:K149Q;ENSP00000403122:K86Q	ENSP00000345804:K111Q	K	-	1	0	HLA-DMA	33026292	0.000000	0.05858	0.000000	0.03702	0.836000	0.47400	-5.230000	0.00139	-2.202000	0.00745	0.523000	0.50628	AAA		0.488	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120		58	75	0	0	0	1	0	58	75				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	55	0	0	0	1	0	3	55				
SLX4	84464	broad.mit.edu	37	16	3632640	3632640	+	Silent	SNP	G	G	A	rs569225834	byFrequency	TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr16:3632640G>A	ENST00000294008.3	-	15	5848	c.5208C>T	c.(5206-5208)ggC>ggT	p.G1736G	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1736	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCTCCCCCTCGCCCTCCTCTT	0.617								Direct reversal of damage					G|||	2	0.000399361	0.0	0.0014	5008	,	,		15391	0.0		0.001	False		,,,				2504	0.0					ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(5206-5208)ggC>ggT	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							39.0	39.0	39.0					16																	3632640		2197	4300	6497	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3632640G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.5208C>T	16.37:g.3632640G>A						RP11-461A8.1_ENST00000573982.1_lincRNA	p.G1736G	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			15	5848	-			1736			Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.5208C>T	CCDS10506.2																																																																																				0.617	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		9	11	0	0	0	1	0	9	11				
LRCH4	4034	broad.mit.edu	37	7	100173893	100173893	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:100173893C>T	ENST00000310300.6	-	15	1658	c.1606G>A	c.(1606-1608)Gat>Aat	p.D536N	SAP25_ENST00000538735.1_5'Flank|LRCH4_ENST00000497245.1_Missense_Mutation_p.D84N	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	536	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTTCTCATCTGGAACCTGG	0.637																																						ENST00000310300.6																			0				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1606-1608)Gat>Aat		leucine-rich repeats and calponin homology (CH) domain containing 4							34.0	36.0	35.0					7																	100173893		2203	4300	6503	SO:0001583	missense	4034				nervous system development	PML body	protein binding	g.chr7:100173893C>T	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1606G>A	7.37:g.100173893C>T	ENSP00000309689:p.Asp536Asn					LRCH4_ENST00000497245.1_Missense_Mutation_p.D84N	p.D536N	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN			15	1658	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		536			CH.		A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	c.1606G>A	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	C	9.727	1.161105	0.21538	.	.	ENSG00000077454	ENST00000310300;ENST00000497245	T;T	0.44881	1.45;0.91	4.14	3.24	0.37175	Calponin homology domain (1);	0.189518	0.45606	D	0.000349	T	0.31040	0.0784	L	0.44542	1.39	0.09310	N	1	B;B	0.25772	0.079;0.134	B;B	0.21360	0.021;0.034	T	0.24621	-1.0155	10	0.66056	D	0.02	-12.2889	7.1311	0.25502	0.0:0.879:0.0:0.121	.	84;536	C9JYK0;O75427	.;LRCH4_HUMAN	N	536;84	ENSP00000309689:D536N;ENSP00000419870:D84N	ENSP00000309689:D536N	D	-	1	0	LRCH4	100011829	0.860000	0.29831	0.111000	0.21465	0.220000	0.24768	2.383000	0.44354	2.309000	0.77851	0.555000	0.69702	GAT		0.637	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		12	14	0	0	0	1	0	12	14				
APOO	79135	broad.mit.edu	37	X	23899026	23899026	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:23899026G>T	ENST00000379226.4	-	2	284	c.53C>A	c.(52-54)aCc>aAc	p.T18N	APOO_ENST00000379220.3_Missense_Mutation_p.T18N	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	18					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GACTTTGAAGGTGAGCAAGCT	0.448																																						ENST00000379226.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						c.(52-54)aCc>aAc		apolipoprotein O							78.0	68.0	72.0					X																	23899026		2203	4300	6503	SO:0001583	missense	79135				lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle		g.chrX:23899026G>T	BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"""Apolipoproteins"""	28727	protein-coding gene	gene with protein product		300753	"""family with sequence similarity 121B"""	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.53C>A	X.37:g.23899026G>T	ENSP00000368528:p.Thr18Asn					APOO_ENST00000379220.3_Missense_Mutation_p.T18N	p.T18N	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN			2	284	-			18					B2R4K9|Q9H3J9	Missense_Mutation	SNP	ENST00000379226.4	37	c.53C>A	CCDS14208.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903070	0.52227	.	.	ENSG00000184831	ENST00000379226;ENST00000379220	T;T	0.16897	2.31;2.31	5.01	5.01	0.66863	.	0.289412	0.39909	N	0.001226	T	0.21186	0.0510	L	0.56769	1.78	0.30012	N	0.815091	P	0.46064	0.872	B	0.42916	0.402	T	0.14952	-1.0454	10	0.72032	D	0.01	-0.5357	12.5025	0.55964	0.0:0.0:1.0:0.0	.	18	Q9BUR5	APOO_HUMAN	N	18	ENSP00000368528:T18N;ENSP00000368522:T18N	ENSP00000368522:T18N	T	-	2	0	APOO	23808947	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	4.881000	0.63114	2.444000	0.82710	0.600000	0.82982	ACC		0.448	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		5	28	1	0	1.23904e-05	1	1.34019e-05	5	28				
HEY2	23493	broad.mit.edu	37	6	126080335	126080335	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:126080335C>T	ENST00000368364.3	+	5	598	c.401C>T	c.(400-402)gCg>gTg	p.A134V	HEY2_ENST00000368365.1_Missense_Mutation_p.A88V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	134	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A134V(2)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACAGAAGTTGCGCGGTACCTG	0.587																																						ENST00000368364.3																			2	Substitution - Missense(2)	p.A134V(2)	large_intestine(1)|lung(1)	breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(400-402)gCg>gTg		hes-related family bHLH transcription factor with YRPW motif 2							132.0	118.0	123.0					6																	126080335		2203	4300	6503	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080335C>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.401C>T	6.37:g.126080335C>T	ENSP00000357348:p.Ala134Val					HEY2_ENST00000368365.1_Missense_Mutation_p.A88V	p.A134V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	598	+			134			Orange.			Missense_Mutation	SNP	ENST00000368364.3	37	c.401C>T	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731357	0.69189	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.54071	0.59;0.59	5.54	5.54	0.83059	Orange subgroup (1);Orange (2);	0.066854	0.64402	D	0.000019	T	0.49575	0.1565	L	0.38838	1.175	0.80722	D	1	D	0.60160	0.987	P	0.56788	0.806	T	0.30794	-0.9966	10	0.25751	T	0.34	-8.5007	19.4671	0.94946	0.0:1.0:0.0:0.0	.	134	Q9UBP5	HEY2_HUMAN	V	88;134	ENSP00000357349:A88V;ENSP00000357348:A134V	ENSP00000357348:A134V	A	+	2	0	HEY2	126122028	1.000000	0.71417	0.959000	0.39883	0.214000	0.24535	7.736000	0.84948	2.606000	0.88127	0.561000	0.74099	GCG		0.587	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			22	56	0	0	0	1	0	22	56				
IFNA6	3443	broad.mit.edu	37	9	21350375	21350375	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr9:21350375A>G	ENST00000380210.1	-	1	1002	c.512T>C	c.(511-513)aTc>aCc	p.I171T		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	171					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGATCTCATGATTTCTGCTCT	0.448																																						ENST00000380210.1																			0				large_intestine(3)|lung(7)|skin(1)	11						c.(511-513)aTc>aCc		interferon, alpha 6							290.0	284.0	286.0					9																	21350375		2203	4300	6503	SO:0001583	missense	3443				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21350375A>G		CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"""Interferons"""	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.512T>C	9.37:g.21350375A>G	ENSP00000369558:p.Ile171Thr						p.I171T	NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	1002	-			171					Q5VYQ1	Missense_Mutation	SNP	ENST00000380210.1	37	c.512T>C	CCDS6504.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732188	0.48939	.	.	ENSG00000120235	ENST00000380210	T	0.09073	3.02	3.78	2.63	0.31362	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.552015	0.19254	N	0.118845	T	0.28699	0.0711	M	0.79693	2.465	0.09310	N	1	P	0.38395	0.629	D	0.71870	0.975	T	0.05321	-1.0892	10	0.62326	D	0.03	.	6.7882	0.23685	0.8847:0.0:0.1153:0.0	.	171	P05013	IFNA6_HUMAN	T	171	ENSP00000369558:I171T	ENSP00000369558:I171T	I	-	2	0	IFNA6	21340375	0.293000	0.24371	0.019000	0.16419	0.382000	0.30200	2.375000	0.44283	0.440000	0.26502	0.482000	0.46254	ATC		0.448	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051905.1	NM_021002		60	205	0	0	0	1	0	60	205				
OLFML2A	169611	broad.mit.edu	37	9	127549423	127549423	+	Missense_Mutation	SNP	G	G	A	rs539442504		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr9:127549423G>A	ENST00000373580.3	+	2	260	c.260G>A	c.(259-261)cGc>cAc	p.R87H		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	87					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ACTGACTGCCGCTGCTCCTGT	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16903	0.0		0.0	False		,,,				2504	0.001					ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(259-261)cGc>cAc		olfactomedin-like 2A							49.0	58.0	55.0					9																	127549423		2163	4263	6426	SO:0001583	missense	169611							g.chr9:127549423G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.260G>A	9.37:g.127549423G>A	ENSP00000362682:p.Arg87His						p.R87H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			2	260	+			87					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.260G>A	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123988	0.77436	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.42900	0.96;0.96	5.73	5.73	0.89815	.	0.181335	0.38897	N	0.001538	T	0.59307	0.2184	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.947	T	0.62234	-0.6897	10	0.87932	D	0	.	8.9292	0.35659	0.1562:0.0:0.8438:0.0	.	87;87	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	H	87	ENSP00000336425:R87H;ENSP00000362682:R87H	ENSP00000336425:R87H	R	+	2	0	OLFML2A	126589244	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	3.457000	0.53007	2.699000	0.92147	0.655000	0.94253	CGC		0.627	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		9	18	0	0	0	1	0	9	18				
ATP7A	538	broad.mit.edu	37	X	77245264	77245264	+	Silent	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:77245264C>T	ENST00000341514.6	+	4	1301	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.N382N	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	382	HMA 4. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTGTGATAAACATTGATGGCA	0.423																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(1144-1146)aaC>aaT		ATPase, Cu++ transporting, alpha polypeptide							170.0	160.0	163.0					X																	77245264		2203	4296	6499	SO:0001819	synonymous_variant	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77245264C>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1146C>T	X.37:g.77245264C>T						ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.N382N	p.N382N	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			4	1301	+			382			HMA 4.		B1AT72|O00227|O00745|Q9BYY8	Silent	SNP	ENST00000341514.6	37	c.1146C>T	CCDS35339.1																																																																																				0.423	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		110	59	0	0	0	1	0	110	59				
NEIL1	79661	broad.mit.edu	37	15	75641378	75641378	+	Silent	SNP	C	C	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr15:75641378C>G	ENST00000564784.1	+	3	761	c.132C>G	c.(130-132)gcC>gcG	p.A44A	NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000569035.1_Silent_p.A44A|NEIL1_ENST00000355059.4_Silent_p.A44A			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	44					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						AGAGCAGTGCCTACCGCATCT	0.652								Base excision repair (BER), DNA glycosylases																														ENST00000564784.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						c.(130-132)gcC>gcG	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 1 (E. coli)							46.0	41.0	42.0					15																	75641378		2197	4294	6491	SO:0001819	synonymous_variant	79661				base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	g.chr15:75641378C>G	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.132C>G	15.37:g.75641378C>G						NEIL1_ENST00000569035.1_Silent_p.A44A|NEIL1_ENST00000355059.4_Silent_p.A44A|NEIL1_ENST00000567959.1_Intron	p.A44A			Q96FI4	NEIL1_HUMAN			3	761	+			44					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Silent	SNP	ENST00000564784.1	37	c.132C>G	CCDS10278.1																																																																																				0.652	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608		15	33	0	0	0	1	0	15	33				
AREL1	9870	broad.mit.edu	37	14	75179781	75179781	+	5'UTR	SNP	A	A	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr14:75179781A>G	ENST00000356357.4	-	0	37				FCF1_ENST00000534938.2_5'Flank|AREL1_ENST00000557401.1_5'UTR|FCF1_ENST00000553615.1_5'Flank|FCF1_ENST00000341162.4_5'Flank|SNORA7_ENST00000410672.1_RNA|AC007956.1_ENST00000338772.5_Missense_Mutation_p.I7T	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGCTCGGGGGATTGCCCTTTC	0.597																																						ENST00000338772.5																			0											c.(19-21)aTc>aCc																																						SO:0001623	5_prime_UTR_variant	0							g.chr14:75179781A>G	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.-479T>C	14.37:g.75179781A>G						AREL1_ENST00000557401.1_5'UTR|AREL1_ENST00000356357.4_5'UTR	p.I7T							1	19	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.20T>C	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	A	5.739	0.320874	0.10845	.	.	ENSG00000214670	ENST00000338772	.	.	.	5.05	2.61	0.31194	.	.	.	.	.	T	0.40347	0.1113	.	.	.	0.21527	N	0.999655	.	.	.	.	.	.	T	0.35201	-0.9798	5	0.87932	D	0	.	5.7259	0.18013	0.1708:0.0:0.1756:0.6535	.	.	.	.	T	7	.	ENSP00000340964:I7T	I	-	2	0	AC007956.1	74249534	0.898000	0.30612	0.004000	0.12327	0.001000	0.01503	1.777000	0.38604	0.454000	0.26884	-0.369000	0.07265	ATC		0.597	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		8	13	0	0	0	1	0	8	13				
GNB2	2783	broad.mit.edu	37	7	100275813	100275813	+	Missense_Mutation	SNP	G	G	A	rs139214321		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:100275813G>A	ENST00000303210.4	+	8	1072	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GNB2_ENST00000424361.1_Missense_Mutation_p.R153H|GNB2_ENST00000436220.1_Missense_Mutation_p.R153H|GNB2_ENST00000393924.1_Missense_Mutation_p.R197H|GNB2_ENST00000393926.1_Missense_Mutation_p.R197H|GNB2_ENST00000427895.1_Missense_Mutation_p.R97H|GNB2_ENST00000419828.1_Missense_Mutation_p.R97H	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	197					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCCGATGGCCGCACGTTTGTG	0.587																																						ENST00000303210.4																			0				endometrium(1)|lung(3)|ovary(2)|prostate(1)	7						c.(589-591)cGc>cAc		guanine nucleotide binding protein (G protein), beta polypeptide 2		G	HIS/ARG	1,4405		0,1,2202	134.0	124.0	127.0		590	4.7	1.0	7	dbSNP_134	127	2,8598		0,2,4298	yes	missense	GNB2	NM_005273.3	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	197/341	100275813	3,13003	2203	4300	6503	SO:0001583	missense	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100275813G>A	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.590G>A	7.37:g.100275813G>A	ENSP00000305260:p.Arg197His					GNB2_ENST00000393926.1_Missense_Mutation_p.R197H|GNB2_ENST00000436220.1_Missense_Mutation_p.R153H|GNB2_ENST00000427895.1_Missense_Mutation_p.R97H|GNB2_ENST00000419828.1_Missense_Mutation_p.R97H|GNB2_ENST00000393924.1_Missense_Mutation_p.R197H|GNB2_ENST00000424361.1_Missense_Mutation_p.R153H	p.R197H	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN			8	1072	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	197					B3KPU1|P11016|P54312	Missense_Mutation	SNP	ENST00000303210.4	37	c.590G>A	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.146301	0.77888	2.27E-4	2.33E-4	ENSG00000172354	ENST00000303210;ENST00000451587;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000431068;ENST00000393924	T;T;T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21	4.69	4.69	0.59074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	L	0.35487	1.065	0.46749	D	0.999184	P	0.41232	0.743	P	0.44696	0.458	T	0.59568	-0.7430	10	0.66056	D	0.02	-8.1064	15.1526	0.72713	0.0:0.0:1.0:0.0	.	197	P62879	GBB2_HUMAN	H	197;197;153;153;97;97;197;197;197	ENSP00000305260:R197H;ENSP00000399904:R197H;ENSP00000401873:R153H;ENSP00000389391:R153H;ENSP00000390543:R97H;ENSP00000400286:R97H;ENSP00000377503:R197H;ENSP00000390077:R197H;ENSP00000377501:R197H	ENSP00000305260:R197H	R	+	2	0	GNB2	100113749	1.000000	0.71417	0.972000	0.41901	0.872000	0.50106	2.089000	0.41672	2.437000	0.82529	0.462000	0.41574	CGC		0.587	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		4	105	0	0	0	1	0	4	105				
NHS	4810	broad.mit.edu	37	X	17750115	17750115	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:17750115G>T	ENST00000380060.3	+	8	4762	c.4424G>T	c.(4423-4425)aGc>aTc	p.S1475I	NHS_ENST00000398097.3_Missense_Mutation_p.S1319I	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1496	Poly-Ser.				cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ACCCCCAACAGCCAGAGGTCT	0.498																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(4423-4425)aGc>aTc		Nance-Horan syndrome (congenital cataracts and dental anomalies)							153.0	136.0	142.0					X																	17750115		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17750115G>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4424G>T	X.37:g.17750115G>T	ENSP00000369400:p.Ser1475Ile					NHS_ENST00000398097.3_Missense_Mutation_p.S1319I	p.S1475I	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			8	4762	+	Hepatocellular(33;0.183)		1475					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.4424G>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277728	0.59758	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.52295	0.67;0.67	5.79	5.79	0.91817	.	0.308380	0.40064	N	0.001184	T	0.65647	0.2711	M	0.66939	2.045	0.43874	D	0.996488	D;D;D;D	0.69078	0.992;0.986;0.986;0.997	P;P;P;D	0.75020	0.862;0.769;0.769;0.985	T	0.64283	-0.6444	10	0.39692	T	0.17	-17.5031	14.5463	0.68032	0.0:0.1419:0.8581:0.0	.	1496;1317;1319;1475	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	I	1475;1319;1317	ENSP00000369400:S1475I;ENSP00000381170:S1319I	ENSP00000369397:S1317I	S	+	2	0	NHS	17660036	1.000000	0.71417	0.999000	0.59377	0.735000	0.41995	3.376000	0.52417	2.435000	0.82474	0.600000	0.82982	AGC		0.498	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		40	85	1	0	5.43694e-19	1	6.54904e-19	40	85				
SUN1	23353	broad.mit.edu	37	7	893044	893044	+	Splice_Site	SNP	A	A	G			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:893044A>G	ENST00000405266.1	+	11	1188		c.e11-1		SUN1_ENST00000456758.2_Splice_Site|SUN1_ENST00000413514.2_Splice_Site|SUN1_ENST00000389574.3_Splice_Site|SUN1_ENST00000452783.2_Splice_Site|SUN1_ENST00000401592.1_Splice_Site|SUN1_ENST00000425407.2_Splice_Site			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1						cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGCCATTTCAGGGTGACAGT	0.527																																						ENST00000456758.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.e16-1		Sad1 and UNC84 domain containing 1							79.0	79.0	79.0					7																	893044		2093	4218	6311	SO:0001630	splice_region_variant	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:893044A>G	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1165-1A>G	7.37:g.893044A>G						SUN1_ENST00000452783.2_Splice_Site|SUN1_ENST00000425407.2_Splice_Site|SUN1_ENST00000413514.2_Splice_Site|SUN1_ENST00000405266.1_Splice_Site|SUN1_ENST00000401592.1_Splice_Site|SUN1_ENST00000389574.3_Splice_Site				O94901	SUN1_HUMAN			16	1620	+								A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Splice_Site	SNP	ENST00000405266.1	37			.	.	.	.	.	.	.	.	.	.	A	13.60	2.284652	0.40394	.	.	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514;ENST00000433212	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5563	0.61761	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SUN1	859570	0.998000	0.40836	0.555000	0.28281	0.049000	0.14656	5.022000	0.64078	2.089000	0.63090	0.533000	0.62120	.		0.527	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154	Intron	4	44	0	0	0	1	0	4	44				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	5	0	0	0	1	0	31	5				
PIWIL3	440822	broad.mit.edu	37	22	25145722	25145722	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr22:25145722T>C	ENST00000332271.5	-	10	1570	c.1154A>G	c.(1153-1155)aAg>aGg	p.K385R	PIWIL3_ENST00000527701.1_Missense_Mutation_p.K276R|PIWIL3_ENST00000533313.1_Missense_Mutation_p.K276R|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	385	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CGTTAGGCCCTTTTTCCATCT	0.468																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1153-1155)aAg>aGg		piwi-like RNA-mediated gene silencing 3							154.0	120.0	132.0					22																	25145722		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25145722T>C	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1154A>G	22.37:g.25145722T>C	ENSP00000330031:p.Lys385Arg					PIWIL3_ENST00000533313.1_Missense_Mutation_p.K276R|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.K276R	p.K385R	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			10	1570	-			385			PAZ.			Missense_Mutation	SNP	ENST00000332271.5	37	c.1154A>G	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	T	3.944	-0.013729	0.07681	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.10099	2.91;2.91;2.91	2.29	-0.0014	0.14034	Argonaute/Dicer protein, PAZ (4);	0.721096	0.12611	U	0.453910	T	0.04770	0.0129	N	0.20881	0.62	0.24410	N	0.994662	B;B;B	0.21381	0.055;0.034;0.009	B;B;B	0.25291	0.059;0.03;0.024	T	0.42932	-0.9422	10	0.05351	T	0.99	-10.9833	1.8165	0.03102	0.2778:0.1706:0.0:0.5517	.	276;385;385	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	R	385;276;276	ENSP00000330031:K385R;ENSP00000431843:K276R;ENSP00000435718:K276R	ENSP00000330031:K385R	K	-	2	0	PIWIL3	23475722	0.986000	0.35501	0.663000	0.29738	0.233000	0.25261	0.006000	0.13152	-0.056000	0.13221	0.260000	0.18958	AAG		0.468	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		3	53	0	0	0	1	0	3	53				
PABPC4	8761	broad.mit.edu	37	1	40029555	40029555	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:40029555C>A	ENST00000372857.3	-	11	2237	c.1445G>T	c.(1444-1446)gGg>gTg	p.G482V	PABPC4_ENST00000372862.3_Intron|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.G498V|PABPC4_ENST00000372856.3_Intron	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	482					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGCACCAGCCCCACCAAAGTC	0.587																																						ENST00000372857.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1444-1446)gGg>gTg		poly(A) binding protein, cytoplasmic 4 (inducible form)							71.0	70.0	70.0					1																	40029555		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40029555C>A	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1445G>T	1.37:g.40029555C>A	ENSP00000361948:p.Gly482Val					PABPC4_ENST00000372858.3_Missense_Mutation_p.G498V|PABPC4_ENST00000372862.3_Intron|PABPC4_ENST00000372856.3_Intron	p.G482V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		11	2237	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	482					B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1445G>T	CCDS438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.80|13.80	2.345593|2.345593	0.41498|0.41498	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000372858;ENST00000372857|ENST00000437136;ENST00000421687	T;T|T;T	0.48836|0.51817	2.44;0.8|0.69;2.46	4.22|4.22	4.22|4.22	0.49857|0.49857	.|.	0.000000|0.000000	0.56097|0.56097	D|D	0.000030|0.000030	T|T	0.39989|0.39989	0.1099|0.1099	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.41770|0.41770	-0.9490|-0.9490	10|8	0.14252|0.66056	T|D	0.57|0.02	.|.	12.3787|12.3787	0.55295|0.55295	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	482;498|.	Q13310;Q4VC03|.	PABP4_HUMAN;.|.	V|W	498;482|37;400	ENSP00000361949:G498V;ENSP00000361948:G482V|ENSP00000408559:G37W;ENSP00000398267:G400W	ENSP00000361948:G482V|ENSP00000398267:G400W	G|G	-|-	2|1	0|0	PABPC4|PABPC4	39802142|39802142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.489000|3.489000	0.53237|0.53237	2.633000|2.633000	0.89246|0.89246	0.561000|0.561000	0.74099|0.74099	GGG|GGG		0.587	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		11	32	1	0	0.010729	1	0.010729	11	32				
TSPAN33	340348	broad.mit.edu	37	7	128804401	128804401	+	Silent	SNP	C	C	T			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:128804401C>T	ENST00000289407.4	+	5	559	c.450C>T	c.(448-450)ggC>ggT	p.G150G	Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	150					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.G150G(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TTGATTTTGGCCAGAAAAAGG	0.512											OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000289407.4																			1	Substitution - coding silent(1)	p.G150G(1)	endometrium(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(448-450)ggC>ggT		tetraspanin 33							160.0	146.0	151.0					7																	128804401		2203	4300	6503	SO:0001819	synonymous_variant	340348					integral to membrane		g.chr7:128804401C>T		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.450C>T	7.37:g.128804401C>T			OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567		p.G150G	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN			5	559	+			150						Silent	SNP	ENST00000289407.4	37	c.450C>T	CCDS5810.1																																																																																				0.512	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		3	46	0	0	0	1	0	3	46				
DCP1B	196513	broad.mit.edu	37	12	2062420	2062420	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr12:2062420G>C	ENST00000280665.6	-	7	765	c.686C>G	c.(685-687)aCa>aGa	p.T229R	DCP1B_ENST00000397173.4_Missense_Mutation_p.T127R|DCP1B_ENST00000540622.1_Missense_Mutation_p.T103R|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	229					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AAACAGAGCTGTCAAGGATAA	0.473																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(685-687)aCa>aGa		decapping mRNA 1B							55.0	59.0	58.0					12																	2062420		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062420G>C	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.686C>G	12.37:g.2062420G>C	ENSP00000280665:p.Thr229Arg					DCP1B_ENST00000397173.4_Missense_Mutation_p.T127R|DCP1B_ENST00000540622.1_Missense_Mutation_p.T103R|DCP1B_ENST00000541700.1_5'UTR	p.T229R	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	765	-			229					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.686C>G	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815378	0.50527	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19669	2.21;2.21;2.13	4.93	1.07	0.20283	.	0.286606	0.39909	N	0.001237	T	0.27967	0.0689	M	0.65975	2.015	0.38004	D	0.93432	P;D	0.55800	0.952;0.973	P;P	0.49752	0.621;0.549	T	0.12218	-1.0556	10	0.54805	T	0.06	-2.0388	9.1971	0.37235	0.3008:0.0:0.6992:0.0	.	127;229	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	R	229;127;103	ENSP00000280665:T229R;ENSP00000380358:T127R;ENSP00000444374:T103R	ENSP00000280665:T229R	T	-	2	0	DCP1B	1932681	0.987000	0.35691	0.702000	0.30337	0.749000	0.42624	1.047000	0.30367	0.026000	0.15269	-0.157000	0.13467	ACA		0.473	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		17	21	0	0	0	1	0	17	21				
PTPRF	5792	broad.mit.edu	37	1	44010763	44010763	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:44010763delC	ENST00000359947.4	+	3	357	c.17delC	c.(16-18)gccfs	p.A6fs	PTPRF_ENST00000438120.1_Frame_Shift_Del_p.A6fs|PTPRF_ENST00000372413.3_Frame_Shift_Del_p.A6fs|PTPRF_ENST00000372414.3_Frame_Shift_Del_p.A6fs	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	6					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTGAGCCAGCCCCAGGGAGG	0.592																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(16-18)gcfs		protein tyrosine phosphatase, receptor type, F							57.0	41.0	46.0					1																	44010763		2199	4295	6494	SO:0001589	frameshift_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44010763delC	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.17delC	1.37:g.44010763delC	ENSP00000353030:p.Ala6fs					PTPRF_ENST00000438120.1_Frame_Shift_Del_p.A6fs|PTPRF_ENST00000372413.3_Frame_Shift_Del_p.A6fs|PTPRF_ENST00000372414.3_Frame_Shift_Del_p.A6fs	p.A6fs	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			3	357	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	6					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Frame_Shift_Del	DEL	ENST00000359947.4	37	c.17delC	CCDS489.2																																																																																				0.592	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			2	4						2	4	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5630449	5630449	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr4:5630449delC	ENST00000344408.5	-	12	1776	c.1723delG	c.(1723-1725)gagfs	p.E575fs	EVC2_ENST00000344938.1_Frame_Shift_Del_p.E575fs|EVC2_ENST00000310917.2_Frame_Shift_Del_p.E495fs	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	575					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCATTAACTCTTCTACATTC	0.328																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(1483-1485)agfs		Ellis van Creveld syndrome 2							72.0	76.0	74.0					4																	5630449		2203	4300	6503	SO:0001589	frameshift_variant	132884					integral to membrane		g.chr4:5630449delC	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1723delG	4.37:g.5630449delC	ENSP00000342144:p.Glu575fs					EVC2_ENST00000344408.5_Frame_Shift_Del_p.E575fs|EVC2_ENST00000344938.1_Frame_Shift_Del_p.E575fs	p.E495fs	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			12	2214	-			575					Q86YT3|Q86YT4|Q8NG49	Frame_Shift_Del	DEL	ENST00000344408.5	37	c.1483delG	CCDS3382.2																																																																																				0.328	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		18	41						18	41	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			0							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC														0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
