#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
KIAA1109	84162	broad.mit.edu	37	4	123140523	123140523	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:123140523A>G	ENST00000264501.4	+	21	2649	c.2276A>G	c.(2275-2277)tAt>tGt	p.Y759C	KIAA1109_ENST00000455637.1_Missense_Mutation_p.Y759C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.Y759C|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	759					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GATGACATGTATATGGATTTT	0.353																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(2275-2277)tAt>tGt		KIAA1109							158.0	148.0	151.0					4																	123140523		1837	4084	5921	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123140523A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2276A>G	4.37:g.123140523A>G	ENSP00000264501:p.Tyr759Cys					KIAA1109_ENST00000455637.1_Missense_Mutation_p.Y759C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.Y759C|KIAA1109_ENST00000495260.1_3'UTR	p.Y759C			Q2LD37	K1109_HUMAN			21	2649	+			759					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.2276A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201581	0.79015	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.24151	2.46;2.46;1.87	5.82	5.82	0.92795	.	1.915110	0.03160	N	0.169155	T	0.54870	0.1885	L	0.55481	1.735	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.01748	-1.1282	10	0.62326	D	0.03	.	16.1806	0.81895	1.0:0.0:0.0:0.0	.	759;759	Q2LD37-5;Q2LD37	.;K1109_HUMAN	C	759	ENSP00000264501:Y759C;ENSP00000373390:Y759C;ENSP00000389925:Y759C	ENSP00000264501:Y759C	Y	+	2	0	KIAA1109	123359973	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.262000	0.95591	2.221000	0.72209	0.528000	0.53228	TAT		0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		73	209	0	0	0	1	0	73	209				
BICD1	636	broad.mit.edu	37	12	32480416	32480416	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:32480416C>T	ENST00000281474.5	+	5	1130	c.1027C>T	c.(1027-1029)Ctt>Ttt	p.L343F	BICD1_ENST00000548411.1_Missense_Mutation_p.L343F	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	343					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AAAGGCCATTCTTTTGGCCAA	0.527																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1027-1029)Ctt>Ttt		bicaudal D homolog 1 (Drosophila)							80.0	78.0	79.0					12																	32480416		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32480416C>T	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1027C>T	12.37:g.32480416C>T	ENSP00000281474:p.Leu343Phe					BICD1_ENST00000281474.5_Missense_Mutation_p.L343F	p.L343F	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	1208	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		343					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1027C>T	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948010	0.73787	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.65916	-0.18;-0.18	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	T	0.81612	0.4859	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84558	0.0648	10	0.66056	D	0.02	.	12.5041	0.55972	0.0:0.9229:0.0:0.0771	.	343;343	F8W113;Q96G01	.;BICD1_HUMAN	F	343	ENSP00000446793:L343F;ENSP00000281474:L343F	ENSP00000281474:L343F	L	+	1	0	BICD1	32371683	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	5.863000	0.69568	2.597000	0.87782	0.655000	0.94253	CTT		0.527	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		37	93	0	0	0	1	0	37	93				
SZT2	23334	broad.mit.edu	37	1	43907942	43907942	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:43907942C>G	ENST00000562955.1	+	56	7706	c.7706C>G	c.(7705-7707)gCc>gGc	p.A2569G	SZT2_ENST00000372442.1_Missense_Mutation_p.A1727G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2626					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTGTAGCTGCCAAAGCCATG	0.602																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(7705-7707)gCc>gGc		seizure threshold 2 homolog (mouse)																																				SO:0001583	missense	23334					peroxisome		g.chr1:43907942C>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7706C>G	1.37:g.43907942C>G	ENSP00000457168:p.Ala2569Gly					SZT2_ENST00000372442.1_Missense_Mutation_p.A1727G	p.A2569G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			56	7706	+			2626					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.7706C>G	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250084	0.22880	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.15	5.15	0.70609	.	0.195453	0.44097	D	0.000482	T	0.19366	0.0465	N	0.08118	0	0.22096	N	0.999365	B	0.24721	0.11	B	0.29942	0.109	T	0.09707	-1.0662	9	0.42905	T	0.14	.	6.9681	0.24635	0.1864:0.7253:0.0:0.0883	.	2569	Q5T011-5	.	G	1727	.	ENSP00000361519:A1727G	A	+	2	0	SZT2	43680529	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.336000	0.43938	2.397000	0.81536	0.655000	0.94253	GCC		0.602	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		12	35	0	0	0	1	0	12	35				
TTN	7273	broad.mit.edu	37	2	179597359	179597359	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:179597359T>C	ENST00000591111.1	-	54	15702	c.15478A>G	c.(15478-15480)Act>Gct	p.T5160A	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T5477A|TTN_ENST00000342992.6_Missense_Mutation_p.T4233A|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12528	Ig-like 32.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGAGAGGAGTAGATCCTTGG	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(16429-16431)Act>Gct		titin							66.0	65.0	65.0					2																	179597359		1866	4115	5981	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597359T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15478A>G	2.37:g.179597359T>C	ENSP00000465570:p.Thr5160Ala					TTN_ENST00000591111.1_Missense_Mutation_p.T5160A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T4233A|TTN_ENST00000342175.6_Intron	p.T5477A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		56	16653	-			5160			Ig-like 35.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16429A>G		.	.	.	.	.	.	.	.	.	.	T	9.263	1.043778	0.19748	.	.	ENSG00000155657	ENST00000342992	T	0.66460	-0.21	6.06	-1.11	0.09840	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40119	0.1104	N	0.03930	-0.32	0.21740	N	0.999564	B	0.02656	0.0	B	0.04013	0.001	T	0.28170	-1.0052	9	0.87932	D	0	.	8.2189	0.31530	0.0:0.3033:0.1006:0.5962	.	5160	Q8WZ42	TITIN_HUMAN	A	4233	ENSP00000343764:T4233A	ENSP00000343764:T4233A	T	-	1	0	TTN	179305604	0.055000	0.20627	0.048000	0.18961	0.969000	0.65631	0.337000	0.19841	-0.417000	0.07461	0.533000	0.62120	ACT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	67	0	0	0	1	0	23	67				
TMPRSS6	164656	broad.mit.edu	37	22	37491963	37491963	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:37491963T>C	ENST00000346753.3	-	5	715	c.599A>G	c.(598-600)gAg>gGg	p.E200G	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.E191G|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E200G	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	200	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACTAGGCCCTCGGGGTCCAC	0.647																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(571-573)gAg>gGg		transmembrane protease, serine 6							74.0	63.0	67.0					22																	37491963		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37491963T>C	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.599A>G	22.37:g.37491963T>C	ENSP00000334962:p.Glu200Gly					TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E200G|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E200G	p.E191G			Q8IU80	TMPS6_HUMAN			5	712	-			200					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.572A>G	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	T	4.091	0.014859	0.07959	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	D;D;D;D;T	0.92099	-2.97;-2.97;-2.97;-2.97;-0.91	4.98	3.88	0.44766	.	0.667620	0.14826	N	0.296163	T	0.81861	0.4912	N	0.11427	0.14	0.26820	N	0.968802	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.70799	-0.4774	10	0.34782	T	0.22	.	7.8104	0.29228	0.0:0.1357:0.0:0.8643	.	200;191;200	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	G	191;200;191;191;200	ENSP00000371211:E191G;ENSP00000334962:E200G;ENSP00000385453:E191G;ENSP00000384964:E191G;ENSP00000397691:E200G	ENSP00000334962:E200G	E	-	2	0	TMPRSS6	35821909	0.950000	0.32346	1.000000	0.80357	0.026000	0.11368	1.672000	0.37523	1.863000	0.54032	0.379000	0.24179	GAG		0.647	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		36	81	0	0	0	1	0	36	81				
PGBD1	84547	broad.mit.edu	37	6	28264676	28264676	+	Silent	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:28264676C>G	ENST00000405948.2	+	5	1146	c.726C>G	c.(724-726)ctC>ctG	p.L242L	PGBD1_ENST00000259883.3_Silent_p.L242L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	242						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGAGGAACCTCTGTGGGAACT	0.512																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(724-726)ctC>ctG		piggyBac transposable element derived 1							112.0	104.0	107.0					6																	28264676		2203	4300	6503	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28264676C>G	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.726C>G	6.37:g.28264676C>G						PGBD1_ENST00000259883.3_Silent_p.L242L	p.L242L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			5	1146	+			242					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.726C>G	CCDS4648.1																																																																																				0.512	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			4	80	0	0	0	1	0	4	80				
PPARGC1B	133522	broad.mit.edu	37	5	149225491	149225491	+	Intron	SNP	A	A	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:149225491A>C	ENST00000309241.5	+	11	3003				PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000403750.1_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.K995N	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta						actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGCCCCTGAAACCCAGCCACA	0.567																																						ENST00000394320.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2983-2985)aaA>aaC		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							36.0	35.0	35.0					5																	149225491		2203	4300	6503	SO:0001627	intron_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149225491A>C	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2971+14A>C	5.37:g.149225491A>C						PPARGC1B_ENST00000309241.5_Intron|PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000403750.1_Intron	p.K995N			Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		11	3027	+			0					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.2985A>C	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.285938	0.23478	.	.	ENSG00000155846	ENST00000394320	T	0.07908	3.15	4.75	3.87	0.44632	.	.	.	.	.	T	0.05593	0.0147	.	.	.	0.21386	N	0.999701	B;B	0.16166	0.016;0.016	B;B	0.15484	0.013;0.013	T	0.39881	-0.9592	7	.	.	.	.	8.2546	0.31748	0.1113:0.0:0.8887:0.0	.	974;995	Q86YN6-4;Q86YN6-3	.;.	N	995	ENSP00000377855:K995N	.	K	+	3	2	PPARGC1B	149205684	0.001000	0.12720	0.028000	0.17463	0.018000	0.09664	0.511000	0.22739	1.332000	0.45431	-0.366000	0.07423	AAA		0.567	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		8	42	0	0	0	1	0	8	42				
ITGAX	3687	broad.mit.edu	37	16	31391868	31391868	+	Missense_Mutation	SNP	G	G	T	rs143612140		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:31391868G>T	ENST00000268296.4	+	28	3320	c.3199G>T	c.(3199-3201)Gtg>Ttg	p.V1067L	ITGAX_ENST00000562522.1_Missense_Mutation_p.V1067L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1067					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGTGTCGGTCGTGAGTGTGGC	0.562																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(3199-3201)Gtg>Ttg		integrin, alpha X (complement component 3 receptor 4 subunit)							112.0	101.0	105.0					16																	31391868		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31391868G>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3199G>T	16.37:g.31391868G>T	ENSP00000268296:p.Val1067Leu					ITGAX_ENST00000562522.1_Missense_Mutation_p.V1067L	p.V1067L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			28	3320	+			1067					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.3199G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	9.681	1.149283	0.21288	.	.	ENSG00000140678	ENST00000268296	T	0.44881	0.91	4.49	-3.95	0.04118	.	.	.	.	.	T	0.24509	0.0594	L	0.37630	1.12	0.09310	N	1	B;B	0.25486	0.127;0.077	B;B	0.21360	0.015;0.034	T	0.22765	-1.0207	9	0.21540	T	0.41	.	5.083	0.14666	0.4223:0.273:0.3047:0.0	.	1067;252	P20702;Q8TES5	ITAX_HUMAN;.	L	1067	ENSP00000268296:V1067L	ENSP00000268296:V1067L	V	+	1	0	ITGAX	31299369	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.472000	0.02341	-0.575000	0.05982	-0.194000	0.12790	GTG		0.562	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		21	23	1	0	1.87028e-06	1	1.97483e-06	21	23				
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T	rs193920774		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:7577141C>T	ENST00000269305.4	-	8	986	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000420246.2_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	GCTGTTCCGTCCCAGTAGATT	0.517		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		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"""		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(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						c.(796-798)gGa>gAa	Other conserved DNA damage response genes	tumor protein p53							50.0	44.0	46.0					17																	7577141		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.chr17:7577141C>T	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.797G>A	17.37:g.7577141C>T	ENSP00000269305:p.Gly266Glu	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_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron	p.G266E	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)	8	929	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.797G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614795	0.87359	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61;-7.61	5.13	5.13	0.70059	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	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.998	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	266;266;266;266;266;255;134	ENSP00000352610:G266E;ENSP00000269305:G266E;ENSP00000398846:G266E;ENSP00000391127:G266E;ENSP00000391478:G266E;ENSP00000425104:G134E	ENSP00000269305:G266E	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	38	0	0	0	1	0	18	38				
IRX5	10265	broad.mit.edu	37	16	54967589	54967589	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:54967589G>A	ENST00000394636.4	+	3	1593	c.1256G>A	c.(1255-1257)gGa>gAa	p.G419E	IRX5_ENST00000560154.1_Missense_Mutation_p.G199E|IRX5_ENST00000320990.5_Missense_Mutation_p.G418E|IRX5_ENST00000558597.1_Missense_Mutation_p.G353E|CTD-3032H12.2_ENST00000560487.1_lincRNA			P78411	IRX5_HUMAN	iroquois homeobox 5	419					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGCTCCTTCGGACACCTTCAT	0.637																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(1255-1257)gGa>gAa		iroquois homeobox 5							24.0	32.0	29.0					16																	54967589		2193	4286	6479	SO:0001583	missense	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54967589G>A	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.1256G>A	16.37:g.54967589G>A	ENSP00000378132:p.Gly419Glu					IRX5_ENST00000558597.1_Missense_Mutation_p.G353E|IRX5_ENST00000320990.5_Missense_Mutation_p.G418E|IRX5_ENST00000560154.1_Missense_Mutation_p.G199E	p.G419E			P78411	IRX5_HUMAN			3	1593	+			419					H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	37	c.1256G>A	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286106	0.59867	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.51574	0.7;0.7	4.54	4.54	0.55810	.	0.232561	0.43416	D	0.000569	T	0.58524	0.2128	L	0.40543	1.245	0.58432	D	0.999999	D	0.69078	0.997	D	0.63597	0.916	T	0.59568	-0.7430	10	0.46703	T	0.11	-3.4703	17.4716	0.87647	0.0:0.0:1.0:0.0	.	419	P78411	IRX5_HUMAN	E	419;418	ENSP00000378132:G419E;ENSP00000316250:G418E	ENSP00000316250:G418E	G	+	2	0	IRX5	53525090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.500000	0.53318	2.340000	0.79590	0.650000	0.86243	GGA		0.637	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			20	79	0	0	0	1	0	20	79				
MYL4	4635	broad.mit.edu	37	17	45291173	45291173	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:45291173C>T	ENST00000354968.1	+	3	272	c.144C>T	c.(142-144)ttC>ttT	p.F48F	MYL4_ENST00000393450.1_Silent_p.F48F|MYL4_ENST00000572316.1_Silent_p.F48F	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	48					cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						AGATAGACTTCACTGCCGACC	0.507																																						ENST00000354968.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						c.(142-144)ttC>ttT		myosin, light chain 4, alkali; atrial, embryonic							205.0	178.0	187.0					17																	45291173		2203	4300	6503	SO:0001819	synonymous_variant	4635				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr17:45291173C>T		CCDS11510.1	17q21.32	2013-09-19	2006-09-29		ENSG00000198336	ENSG00000198336		"""Myosins / Light chain"", ""EF-hand domain containing"""	7585	protein-coding gene	gene with protein product	"""myosin, atrial/fetal muscle, light chain"""	160770	"""myosin, light polypeptide 4, alkali; atrial, embryonic"""			3417683	Standard	NM_002476		Approved	ALC1, AMLC, GT1, PRO1957	uc002ilg.3	P12829	OTTHUMG00000178232	ENST00000354968.1:c.144C>T	17.37:g.45291173C>T						MYL4_ENST00000393450.1_Silent_p.F48F|MYL4_ENST00000572316.1_Silent_p.F48F	p.F48F	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN			3	272	+			48					D3DXJ7|P11783	Silent	SNP	ENST00000354968.1	37	c.144C>T	CCDS11510.1																																																																																				0.507	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441059.1	NM_001002841		84	150	0	0	0	1	0	84	150				
EPHA7	2045	broad.mit.edu	37	6	93956565	93956565	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:93956565C>A	ENST00000369303.4	-	15	2855	c.2671G>T	c.(2671-2673)Gac>Tac	p.D891Y		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	891	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.D891Y(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATCATTTTGTCTAGAATTCCA	0.433																																						ENST00000369303.4																			1	Substitution - Missense(1)	p.D891Y(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2671-2673)Gac>Tac		EPH receptor A7							137.0	130.0	133.0					6																	93956565		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93956565C>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2671G>T	6.37:g.93956565C>A	ENSP00000358309:p.Asp891Tyr						p.D891Y	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	15	2855	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	891			Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2671G>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819661	0.90873	.	.	ENSG00000135333	ENST00000369303	T	0.61392	0.11	5.74	5.74	0.90152	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.993	D;P;P	0.79784	0.993;0.832;0.683	T	0.73714	-0.3896	10	0.87932	D	0	.	19.9265	0.97104	0.0:1.0:0.0:0.0	.	887;886;891	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	Y	891	ENSP00000358309:D891Y	ENSP00000358309:D891Y	D	-	1	0	EPHA7	94013286	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.726000	0.84824	2.723000	0.93209	0.591000	0.81541	GAC		0.433	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			43	110	1	0	6.4771e-29	1	7.38998e-29	43	110				
SCYL1	57410	broad.mit.edu	37	11	65304218	65304218	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:65304218G>A	ENST00000270176.5	+	13	1890	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	SCYL1_ENST00000527009.1_Missense_Mutation_p.E462K|SCYL1_ENST00000525364.1_Missense_Mutation_p.E605K|SCYL1_ENST00000533862.1_Missense_Mutation_p.E605K|SCYL1_ENST00000420247.2_Missense_Mutation_p.E605K|SCYL1_ENST00000279270.6_Missense_Mutation_p.E605K|SCYL1_ENST00000524944.1_Missense_Mutation_p.E605K	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	605	Pro-rich.				peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						ACCCACGCCTGAAGGTGAGTG	0.607																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1813-1815)Gaa>Aaa		SCY1-like 1 (S. cerevisiae)							89.0	102.0	97.0					11																	65304218		2113	4221	6334	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65304218G>A	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1813G>A	11.37:g.65304218G>A	ENSP00000270176:p.Glu605Lys					SCYL1_ENST00000270176.5_Missense_Mutation_p.E605K|SCYL1_ENST00000533862.1_Missense_Mutation_p.E605K|SCYL1_ENST00000420247.2_Missense_Mutation_p.E605K|SCYL1_ENST00000279270.6_Missense_Mutation_p.E605K|SCYL1_ENST00000527009.1_Missense_Mutation_p.E462K|SCYL1_ENST00000525364.1_Missense_Mutation_p.E605K|SCYL1_ENST00000527630.1_Missense_Mutation_p.E605K	p.E605K			Q96KG9	NTKL_HUMAN			13	1846	+			605			Pro-rich.		A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1813G>A	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054883	0.36277	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009;ENST00000528545	T;T;T;T;T;T;T;T;T	0.29917	2.3;2.28;2.29;2.3;1.56;2.3;2.3;2.3;1.55	4.95	4.95	0.65309	.	0.626220	0.15655	N	0.251200	T	0.14270	0.0345	N	0.08118	0	0.45295	D	0.998297	B;B;B;B;B	0.30406	0.021;0.157;0.0;0.052;0.278	B;B;B;B;B	0.24974	0.012;0.047;0.002;0.024;0.057	T	0.05533	-1.0879	10	0.06236	T	0.91	-11.9099	13.6635	0.62380	0.0:0.0:1.0:0.0	.	605;605;605;605;605	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	K	605;605;605;605;605;605;605;605;462;78	ENSP00000270176:E605K;ENSP00000431635:E605K;ENSP00000408192:E605K;ENSP00000437254:E605K;ENSP00000433450:E605K;ENSP00000279270:E605K;ENSP00000432175:E605K;ENSP00000436993:E462K;ENSP00000433604:E78K	ENSP00000270176:E605K	E	+	1	0	SCYL1	65060794	1.000000	0.71417	0.985000	0.45067	0.023000	0.10783	4.815000	0.62634	2.297000	0.77311	0.462000	0.41574	GAA		0.607	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		49	125	0	0	0	1	0	49	125				
NOTCH1	4851	broad.mit.edu	37	9	139412212	139412212	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:139412212C>T	ENST00000277541.6	-	8	1508	c.1433G>A	c.(1432-1434)tGc>tAc	p.C478Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	478	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C478F(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCGGGCATGCAGATGCACTG	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.C478F(2)	skin(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1432-1434)tGc>tAc		notch 1							49.0	54.0	52.0					9																	139412212		2105	4213	6318	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412212C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1433G>A	9.37:g.139412212C>T	ENSP00000277541:p.Cys478Tyr	HNSCC(8;0.001)					p.C478Y	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1508	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	478			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1433G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554771	0.65425	.	.	ENSG00000148400	ENST00000277541	D	0.99445	-5.91	4.47	4.47	0.54385	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.99929	4.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96198	0.9143	10	0.87932	D	0	.	16.0962	0.81127	0.0:1.0:0.0:0.0	.	478	P46531	NOTC1_HUMAN	Y	478	ENSP00000277541:C478Y	ENSP00000277541:C478Y	C	-	2	0	NOTCH1	138532033	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.258000	0.78371	2.029000	0.59856	0.462000	0.41574	TGC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		104	29	0	0	0	1	0	104	29				
SPOCK1	6695	broad.mit.edu	37	5	136448238	136448238	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:136448238C>T	ENST00000394945.1	-	5	529	c.360G>A	c.(358-360)ggG>ggA	p.G120G	SPOCK1_ENST00000282223.7_Silent_p.G120G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	120					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCCACGTTCCCCTTCTTTT	0.488																																						ENST00000394945.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(358-360)ggG>ggA		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1							82.0	80.0	81.0					5																	136448238		2203	4300	6503	SO:0001819	synonymous_variant	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136448238C>T	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.360G>A	5.37:g.136448238C>T						SPOCK1_ENST00000282223.7_Silent_p.G120G	p.G120G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	529	-			120					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	c.360G>A	CCDS4191.1																																																																																				0.488	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		22	70	0	0	0	1	0	22	70				
AXDND1	126859	broad.mit.edu	37	1	179414261	179414261	+	Missense_Mutation	SNP	C	C	G	rs559196812		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:179414261C>G	ENST00000367618.3	+	16	2107	c.1720C>G	c.(1720-1722)Cga>Gga	p.R574G	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.R574G	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	574										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GCCATCAGAGCGACAGTACAT	0.338																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1720-1722)Cga>Gga		axonemal dynein light chain domain containing 1							79.0	84.0	83.0					1																	179414261		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179414261C>G	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1720C>G	1.37:g.179414261C>G	ENSP00000356590:p.Arg574Gly					AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.R574G	p.R574G	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			16	2107	+			574					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1720C>G	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	5.222	0.226373	0.09916	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.43294	2.28;0.95;2.28	5.65	4.74	0.60224	.	0.963463	0.08695	N	0.907333	T	0.36026	0.0952	L	0.34521	1.04	0.18873	N	0.999986	B;B;B	0.27192	0.023;0.023;0.171	B;B;B	0.25140	0.011;0.011;0.058	T	0.26780	-1.0093	10	0.45353	T	0.12	0.1027	12.3226	0.54993	0.1691:0.8309:0.0:0.0	.	532;574;574	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	G	574;532;574;508	ENSP00000356590:R574G;ENSP00000416712:R574G;ENSP00000391716:R508G	ENSP00000353471:R532G	R	+	1	2	AXDND1	177680884	0.025000	0.19082	0.887000	0.34795	0.015000	0.08874	-0.004000	0.12878	1.513000	0.48852	0.549000	0.68633	CGA		0.338	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		35	67	0	0	0	1	0	35	67				
CNPY2	10330	broad.mit.edu	37	12	56712923	56712923	+	5'Flank	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:56712923T>C	ENST00000273308.4	-	0	0				PAN2_ENST00000548043.1_Missense_Mutation_p.M1109V|PAN2_ENST00000440411.3_Missense_Mutation_p.M1105V|PAN2_ENST00000257931.5_Missense_Mutation_p.M1108V|PAN2_ENST00000549090.1_Intron|PAN2_ENST00000425394.2_Missense_Mutation_p.M1109V	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2						negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						TTTCGGGGCATATGGAACAGG	0.498																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(3325-3327)Atg>Gtg		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							105.0	96.0	99.0					12																	56712923		2203	4300	6503	SO:0001631	upstream_gene_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56712923T>C	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330		12.37:g.56712923T>C	Exception_encountered					PAN2_ENST00000548043.1_Missense_Mutation_p.M1109V|PAN2_ENST00000257931.5_Missense_Mutation_p.M1108V|PAN2_ENST00000440411.3_Missense_Mutation_p.M1105V|PAN2_ENST00000549090.1_Intron	p.M1109V	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			24	3701	-			1109			Exonuclease.		B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.3325A>G	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414742	0.42817	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.63	5.63	0.86233	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.100158	0.64402	D	0.000002	T	0.25344	0.0616	N	0.04297	-0.235	0.49299	D	0.999778	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.004;0.004;0.006	T	0.08186	-1.0734	10	0.66056	D	0.02	-22.9171	15.1304	0.72517	0.0:0.0:0.0:1.0	.	1108;1105;1109	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	V	1109;1105;1108;1109	ENSP00000401721:M1109V;ENSP00000388231:M1105V;ENSP00000257931:M1108V;ENSP00000449861:M1109V	ENSP00000257931:M1108V	M	-	1	0	PAN2	54999190	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.988000	0.63863	2.279000	0.76181	0.533000	0.62120	ATG		0.498	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		24	55	0	0	0	1	0	24	55				
MEIOB	254528	broad.mit.edu	37	16	1894871	1894871	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:1894871G>C	ENST00000397344.3	-	10	1066	c.872C>G	c.(871-873)tCc>tGc	p.S291C	LA16c-429E7.1_ENST00000570247.1_RNA|MEIOB_ENST00000470044.1_Missense_Mutation_p.S84C|MEIOB_ENST00000412554.2_Missense_Mutation_p.S291C|MEIOB_ENST00000325962.3_Missense_Mutation_p.S291C|MEIOB_ENST00000452149.2_Missense_Mutation_p.S291C	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	291					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)										ACAATTTATGGATTCTTTGAA	0.308																																						ENST00000412554.2																			0											c.(871-873)tCc>tGc		meiosis specific with OB domains							46.0	46.0	46.0					16																	1894871		2192	4285	6477	SO:0001583	missense	254528							g.chr16:1894871G>C	BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 73"""	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.872C>G	16.37:g.1894871G>C	ENSP00000380504:p.Ser291Cys					MEIOB_ENST00000452149.2_Missense_Mutation_p.S291C|MEIOB_ENST00000325962.3_Missense_Mutation_p.S291C|MEIOB_ENST00000470044.1_Missense_Mutation_p.S84C|MEIOB_ENST00000397344.3_Missense_Mutation_p.S291C	p.S291C	NM_001163560.2	NP_001157032.1					10	1066	-								B1AK39|C9J0S1|Q96RY0	Missense_Mutation	SNP	ENST00000397344.3	37	c.872C>G	CCDS10449.2	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565820	0.45694	.	.	ENSG00000162039	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.74	4.78	0.61160	.	0.335796	0.31092	N	0.008274	T	0.26412	0.0645	M	0.64997	1.995	0.40458	D	0.98021	D;D	0.63046	0.992;0.975	P;P	0.58970	0.849;0.708	T	0.02167	-1.1202	10	0.54805	T	0.06	.	15.0221	0.71637	0.0:0.0:0.8567:0.1433	.	291;291	C9J0S1;Q8N635	.;CP073_HUMAN	C	291	ENSP00000390778:S291C;ENSP00000391033:S291C;ENSP00000314484:S291C;ENSP00000380504:S291C	ENSP00000314484:S291C	S	-	2	0	C16orf73	1834872	1.000000	0.71417	0.996000	0.52242	0.145000	0.21501	5.894000	0.69806	1.439000	0.47511	0.306000	0.20318	TCC		0.308	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764		18	12	0	0	0	1	0	18	12				
QSOX1	5768	broad.mit.edu	37	1	180155269	180155269	+	Silent	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:180155269A>G	ENST00000367602.3	+	8	1043	c.969A>G	c.(967-969)gaA>gaG	p.E323E	QSOX1_ENST00000367600.5_Silent_p.E323E			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	323					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGGTCCTGGAAGGGCAGCGCC	0.577																																						ENST00000367602.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(967-969)gaA>gaG		quiescin Q6 sulfhydryl oxidase 1							82.0	79.0	80.0					1																	180155269		2203	4300	6503	SO:0001819	synonymous_variant	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180155269A>G	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.969A>G	1.37:g.180155269A>G						QSOX1_ENST00000367600.5_Silent_p.E323E	p.E323E			O00391	QSOX1_HUMAN			8	1043	+			323					Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	ENST00000367602.3	37	c.969A>G	CCDS1337.1																																																																																				0.577	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		20	53	0	0	0	1	0	20	53				
RP1	6101	broad.mit.edu	37	8	55537622	55537622	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:55537622A>G	ENST00000220676.1	+	4	1328	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	394					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTGTCACCTATGGAGCGAAG	0.423																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1180-1182)Atg>Gtg		retinitis pigmentosa 1 (autosomal dominant)							77.0	75.0	76.0					8																	55537622		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537622A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1180A>G	8.37:g.55537622A>G	ENSP00000220676:p.Met394Val						p.M394V	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1328	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	394						Missense_Mutation	SNP	ENST00000220676.1	37	c.1180A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	0.141	-1.101886	0.01828	.	.	ENSG00000104237	ENST00000220676	T	0.28255	1.62	4.03	-3.52	0.04682	.	0.570592	0.14475	N	0.317307	T	0.12305	0.0299	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12578	-1.0542	10	0.56958	D	0.05	.	1.1992	0.01881	0.4821:0.1351:0.1246:0.2581	.	394	P56715	RP1_HUMAN	V	394	ENSP00000220676:M394V	ENSP00000220676:M394V	M	+	1	0	RP1	55700175	0.706000	0.27856	0.000000	0.03702	0.007000	0.05969	0.550000	0.23345	-0.513000	0.06496	-0.219000	0.12488	ATG		0.423	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		29	105	0	0	0	1	0	29	105				
OR5L1	219437	broad.mit.edu	37	11	55579760	55579760	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:55579760T>G	ENST00000333973.2	+	1	907	c.818T>G	c.(817-819)gTg>gGg	p.V273G		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCTGACAAAGTGGCCACCGTG	0.473																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(817-819)gTg>gGg		olfactory receptor, family 5, subfamily L, member 1							87.0	78.0	81.0					11																	55579760		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579760T>G	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.818T>G	11.37:g.55579760T>G	ENSP00000335529:p.Val273Gly						p.V273G	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	907	+		all_epithelial(135;0.208)	273					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.818T>G	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	16.26	3.072896	0.55646	.	.	ENSG00000186117	ENST00000333973	T	0.00285	8.3	4.12	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000237	T	0.00412	0.0013	L	0.58810	1.83	0.09310	N	0.999994	D	0.63046	0.992	D	0.68483	0.958	T	0.50189	-0.8857	10	0.87932	D	0	-27.017	5.1333	0.14922	0.3021:0.0:0.1551:0.5428	.	273	Q8NGL2	OR5L1_HUMAN	G	273	ENSP00000335529:V273G	ENSP00000335529:V273G	V	+	2	0	OR5L1	55336336	0.002000	0.14202	0.015000	0.15790	0.559000	0.35586	1.330000	0.33781	0.457000	0.26962	0.352000	0.21897	GTG		0.473	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		33	70	0	0	0	1	0	33	70				
AGMO	392636	broad.mit.edu	37	7	15601453	15601453	+	Silent	SNP	G	G	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:15601453G>T	ENST00000342526.3	-	1	187	c.18C>A	c.(16-18)gcC>gcA	p.A6A		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	6					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CATCCTGCTGGGCTTCTGGGT	0.443																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(16-18)gcC>gcA		alkylglycerol monooxygenase							106.0	102.0	104.0					7																	15601453		2203	4300	6503	SO:0001819	synonymous_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15601453G>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.18C>A	7.37:g.15601453G>T							p.A6A	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			1	187	-			6					A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	c.18C>A	CCDS34604.1																																																																																				0.443	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		35	150	1	0	2.68265e-12	1	2.98072e-12	35	150				
KCTD3	51133	broad.mit.edu	37	1	215777507	215777507	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:215777507G>A	ENST00000259154.4	+	13	1466	c.1172G>A	c.(1171-1173)gGt>gAt	p.G391D		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	391					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATCGCCTATGGTACGAGCTCT	0.453																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(1171-1173)gGt>gAt		potassium channel tetramerization domain containing 3							135.0	127.0	130.0					1																	215777507		2203	4300	6503	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215777507G>A	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1172G>A	1.37:g.215777507G>A	ENSP00000259154:p.Gly391Asp						p.G391D	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	13	1466	+			391					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.1172G>A	CCDS1515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.482890|5.482890	0.96307|0.96307	.|.	.|.	ENSG00000136636|ENSG00000136636	ENST00000259154;ENST00000366946|ENST00000452413	T|.	0.10477|.	2.87|.	6.17|6.17	6.17|6.17	0.99709|0.99709	WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.85106|.	0.5621|.	M|M	0.88031|0.88031	2.925|2.925	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.992|.	D|.	0.85654|.	0.1284|.	10|.	0.87932|.	D|.	0|.	-32.7248|-32.7248	19.8676|19.8676	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	143;143;391;391|.	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597|.	.;.;.;KCTD3_HUMAN|.	D|X	391;43|22	ENSP00000259154:G391D|.	ENSP00000259154:G391D|.	G|W	+|+	2|3	0|0	KCTD3|KCTD3	213844130|213844130	1.000000|1.000000	0.71417|0.71417	0.640000|0.640000	0.29408|0.29408	0.982000|0.982000	0.71751|0.71751	9.476000|9.476000	0.97823|0.97823	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.453	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		33	86	0	0	0	1	0	33	86				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	62	0	0	0	1	0	5	62				
RSPO2	340419	broad.mit.edu	37	8	108972911	108972911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:108972911C>T	ENST00000276659.5	-	4	1038	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	RSPO2_ENST00000517781.1_Missense_Mutation_p.E77K|RSPO2_ENST00000517939.1_Missense_Mutation_p.E73K|RSPO2_ENST00000378439.2_Missense_Mutation_p.E77K	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	140					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCCACACATTCCATGGTTTCT	0.348																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(418-420)Gaa>Aaa		R-spondin 2							100.0	93.0	95.0					8																	108972911		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108972911C>T	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.418G>A	8.37:g.108972911C>T	ENSP00000276659:p.Glu140Lys					RSPO2_ENST00000517939.1_Missense_Mutation_p.E73K|RSPO2_ENST00000517781.1_Missense_Mutation_p.E77K|RSPO2_ENST00000378439.2_Missense_Mutation_p.E77K	p.E140K	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		4	1038	-			140					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.418G>A	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553913	0.86231	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502;ENST00000521757	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.87	5.87	0.94306	Growth factor, receptor (1);	0.047965	0.85682	D	0.000000	T	0.81842	0.4908	L	0.37800	1.135	0.80722	D	1	B;P	0.40731	0.447;0.728	B;B	0.39339	0.109;0.297	T	0.80834	-0.1205	10	0.39692	T	0.17	-1.5729	20.2154	0.98294	0.0:1.0:0.0:0.0	.	140;77	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	K	73;77;77;140;73;73	ENSP00000428940:E73K;ENSP00000427937:E77K;ENSP00000367698:E77K;ENSP00000276659:E140K;ENSP00000428614:E73K;ENSP00000430485:E73K	ENSP00000276659:E140K	E	-	1	0	RSPO2	109042087	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.769000	0.85360	2.788000	0.95919	0.551000	0.68910	GAA		0.348	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		22	149	0	0	0	1	0	22	149				
ARFGEF2	10564	broad.mit.edu	37	20	47630398	47630398	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr20:47630398G>C	ENST00000371917.4	+	30	4080	c.4080G>C	c.(4078-4080)aaG>aaC	p.K1360N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1360					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGATCATGAAGAGCTATGGCC	0.473																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(4078-4080)aaG>aaC		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							142.0	122.0	129.0					20																	47630398		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47630398G>C	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.4080G>C	20.37:g.47630398G>C	ENSP00000360985:p.Lys1360Asn						p.K1360N	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		30	4080	+			1360					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.4080G>C	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281051	0.80692	.	.	ENSG00000124198	ENST00000371917	T	0.58797	0.31	5.6	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.101742	0.64402	D	0.000002	T	0.72317	0.3445	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.74535	-0.3633	10	0.66056	D	0.02	.	10.5788	0.45244	0.1475:0.0:0.8525:0.0	.	1360	Q9Y6D5	BIG2_HUMAN	N	1360	ENSP00000360985:K1360N	ENSP00000360985:K1360N	K	+	3	2	ARFGEF2	47063805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.596000	0.54024	1.357000	0.45904	0.491000	0.48974	AAG		0.473	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		42	153	0	0	0	1	0	42	153				
EYS	346007	broad.mit.edu	37	6	66204885	66204885	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:66204885C>A	ENST00000370621.3	-	4	945	c.419G>T	c.(418-420)tGg>tTg	p.W140L	EYS_ENST00000393380.2_Missense_Mutation_p.W140L|EYS_ENST00000370616.2_Missense_Mutation_p.W140L|EYS_ENST00000370618.3_Missense_Mutation_p.W140L|EYS_ENST00000342421.5_Missense_Mutation_p.W140L|EYS_ENST00000503581.1_Missense_Mutation_p.W140L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	140					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AACACTCAGCCACTTAGAATT	0.423																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(418-420)tGg>tTg		eyes shut homolog (Drosophila)							68.0	60.0	63.0					6																	66204885		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204885C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.419G>T	6.37:g.66204885C>A	ENSP00000359655:p.Trp140Leu					EYS_ENST00000342421.5_Missense_Mutation_p.W140L|EYS_ENST00000393380.2_Missense_Mutation_p.W140L|EYS_ENST00000370618.3_Missense_Mutation_p.W140L|EYS_ENST00000370621.3_Missense_Mutation_p.W140L|EYS_ENST00000370616.2_Missense_Mutation_p.W140L	p.W140L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	956	-			140					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.419G>T		.	.	.	.	.	.	.	.	.	.	C	18.50	3.637157	0.67130	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.86230	-1.54;-1.53;-1.53;-2.09;-2.09;-2.09	4.92	4.04	0.47022	.	.	.	.	.	T	0.64170	0.2574	N	0.08118	0	0.26459	N	0.975478	P;P;P	0.50943	0.844;0.863;0.94	P;P;B	0.48873	0.46;0.593;0.389	T	0.60100	-0.7329	9	0.11182	T	0.66	.	11.9099	0.52733	0.1747:0.8253:0.0:0.0	.	140;140;140	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	L	140	ENSP00000424243:W140L;ENSP00000359655:W140L;ENSP00000359650:W140L;ENSP00000377042:W140L;ENSP00000341818:W140L;ENSP00000359652:W140L	ENSP00000341818:W140L	W	-	2	0	EYS	66261606	1.000000	0.71417	0.523000	0.27875	0.911000	0.54048	3.471000	0.53107	1.152000	0.42452	0.591000	0.81541	TGG		0.423	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		39	79	1	0	6.97489e-18	1	7.80086e-18	39	79				
JPH4	84502	broad.mit.edu	37	14	24045205	24045205	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr14:24045205C>G	ENST00000397118.3	-	4	1742	c.840G>C	c.(838-840)gaG>gaC	p.E280D	JPH4_ENST00000356300.4_Missense_Mutation_p.E280D|JPH4_ENST00000544177.1_5'Flank	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	280					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCGCGTACACCTCTGTGGCCG	0.766																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(838-840)gaG>gaC		junctophilin 4							6.0	7.0	6.0					14																	24045205		1646	3422	5068	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24045205C>G	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.840G>C	14.37:g.24045205C>G	ENSP00000380307:p.Glu280Asp					JPH4_ENST00000356300.4_Missense_Mutation_p.E280D	p.E280D	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	4	1742	-	all_cancers(95;0.000251)		280					D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.840G>C	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	.	14.23	2.472589	0.43942	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407	T;T	0.58652	0.32;0.32	3.98	-1.63	0.08345	.	.	.	.	.	T	0.56077	0.1961	L	0.48362	1.52	0.24428	N	0.994589	D;D	0.61697	0.99;0.976	P;P	0.51516	0.672;0.672	T	0.53975	-0.8362	9	0.72032	D	0.01	.	9.4813	0.38902	0.0:0.4116:0.0:0.5884	.	280;280	A8K396;Q96JJ6	.;JPH4_HUMAN	D	280;280;280;281	ENSP00000348648:E280D;ENSP00000380307:E280D	ENSP00000267407:E281D	E	-	3	2	JPH4	23115045	0.566000	0.26618	0.920000	0.36463	0.805000	0.45488	0.045000	0.14013	-0.513000	0.06496	-1.094000	0.02160	GAG		0.766	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		3	8	0	0	0	1	0	3	8				
ATG4D	84971	broad.mit.edu	37	19	10655726	10655726	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:10655726C>G	ENST00000309469.4	+	3	586	c.413C>G	c.(412-414)tCg>tGg	p.S138W	ATG4D_ENST00000540862.1_5'UTR	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	138					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGCCTGACCTCGGACTGTGGC	0.632																																						ENST00000309469.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(412-414)tCg>tGg		autophagy related 4D, cysteine peptidase							95.0	102.0	99.0					19																	10655726		2203	4300	6503	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10655726C>G	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.413C>G	19.37:g.10655726C>G	ENSP00000311318:p.Ser138Trp					ATG4D_ENST00000540862.1_5'UTR	p.S138W	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		3	586	+			138					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.413C>G	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764725	0.69878	.	.	ENSG00000130734	ENST00000309469	T	0.60548	0.18	4.84	4.84	0.62591	.	0.063063	0.64402	D	0.000010	T	0.79287	0.4420	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.79108	0.992;0.964;0.987	D	0.83892	0.0285	10	0.87932	D	0	-14.7744	16.6843	0.85301	0.0:1.0:0.0:0.0	.	75;161;138	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	W	138	ENSP00000311318:S138W	ENSP00000311318:S138W	S	+	2	0	ATG4D	10516726	1.000000	0.71417	0.965000	0.40720	0.070000	0.16714	7.364000	0.79526	2.221000	0.72209	0.643000	0.83706	TCG		0.632	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		18	266	0	0	0	1	0	18	266				
CNOT1	23019	broad.mit.edu	37	16	58557303	58557303	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:58557303A>T	ENST00000317147.5	-	47	7220	c.6888T>A	c.(6886-6888)aaT>aaA	p.N2296K	CNOT1_ENST00000245138.4_Missense_Mutation_p.N1147K|CNOT1_ENST00000569240.1_Missense_Mutation_p.N2291K	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2296					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGGCTTCCGTATTGGCCTCTG	0.413																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6886-6888)aaT>aaA		CCR4-NOT transcription complex, subunit 1							185.0	174.0	178.0					16																	58557303		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58557303A>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6888T>A	16.37:g.58557303A>T	ENSP00000320949:p.Asn2296Lys					CNOT1_ENST00000245138.4_Missense_Mutation_p.N1147K|CNOT1_ENST00000569240.1_Missense_Mutation_p.N2291K	p.N2296K	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	47	7220	-			2296					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6888T>A	CCDS10799.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.6|24.6	4.551609|4.551609	0.86127|0.86127	.|.	.|.	ENSG00000125107|ENSG00000125107	ENST00000546037|ENST00000317147;ENST00000422872;ENST00000245138	.|T	.|0.47528	.|0.84	6.03|6.03	3.04|3.04	0.35103|0.35103	.|CCR4-Not complex component, Not1, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59459|0.59459	0.2195|0.2195	M|M	0.63169|0.63169	1.94|1.94	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.76494	.|0.999;0.743;0.957	.|D;P;P	.|0.71184	.|0.972;0.607;0.856	T|T	0.53493|0.53493	-0.8431|-0.8431	5|10	.|0.24483	.|T	.|0.36	-9.4785|-9.4785	10.0143|10.0143	0.42006|0.42006	0.2187:0.0:0.7813:0.0|0.2187:0.0:0.7813:0.0	.|.	.|1147;2296;2291	.|B5MDN3;A5YKK6;A5YKK6-2	.|.;CNOT1_HUMAN;.	K|K	301|2296;990;1147	.|ENSP00000320949:N2296K	.|ENSP00000245138:N1147K	I|N	-|-	2|3	0|2	CNOT1|CNOT1	57114804|57114804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.580000|2.580000	0.46068|0.46068	0.433000|0.433000	0.26313|0.26313	-0.242000|-0.242000	0.12053|0.12053	ATA|AAT		0.413	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		35	164	0	0	0	1	0	35	164				
FLG	2312	broad.mit.edu	37	1	152277201	152277201	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:152277201G>A	ENST00000368799.1	-	3	10196	c.10161C>T	c.(10159-10161)ctC>ctT	p.L3387L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3387	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCTGGTAGAGGAAAGACC	0.612									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10159-10161)ctC>ctT		filaggrin							227.0	251.0	243.0					1																	152277201		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277201G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10161C>T	1.37:g.152277201G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.L3387L	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10196	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3387			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.10161C>T	CCDS30860.1																																																																																				0.612	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		201	385	0	0	0	1	0	201	385				
DENND4B	9909	broad.mit.edu	37	1	153906274	153906274	+	Silent	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:153906274C>G	ENST00000361217.4	-	20	3433	c.3015G>C	c.(3013-3015)ctG>ctC	p.L1005L	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1005					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGTCAGGCTCAGGTCTGAGA	0.642																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(3013-3015)ctG>ctC		DENN/MADD domain containing 4B							14.0	15.0	15.0					1																	153906274		1876	4066	5942	SO:0001819	synonymous_variant	9909							g.chr1:153906274C>G	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3015G>C	1.37:g.153906274C>G							p.L1005L	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		20	3433	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1005					Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.3015G>C	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		13	14	0	0	0	1	0	13	14				
POLQ	10721	broad.mit.edu	37	3	121207907	121207907	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:121207907G>C	ENST00000264233.5	-	16	3999	c.3871C>G	c.(3871-3873)Cta>Gta	p.L1291V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1291					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTTCTTGTAGTCTAGAAATA	0.333								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3871-3873)Cta>Gta	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							73.0	78.0	76.0					3																	121207907		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207907G>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3871C>G	3.37:g.121207907G>C	ENSP00000264233:p.Leu1291Val						p.L1291V	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3999	-			1291					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.3871C>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.740105	0.00088	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.40756	1.02	5.45	-3.44	0.04796	.	1.532230	0.03403	N	0.203611	T	0.17195	0.0413	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36383	-0.9750	10	0.02654	T	1	.	9.2554	0.37579	0.0:0.6127:0.1549:0.2324	.	1291;463	O75417;O75417-2	DPOLQ_HUMAN;.	V	914;1291;1427	ENSP00000264233:L1291V	ENSP00000264233:L1291V	L	-	1	2	POLQ	122690597	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.920000	0.04013	-0.458000	0.07023	-0.457000	0.05445	CTA		0.333	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		64	200	0	0	0	1	0	64	200				
ZNF184	7738	broad.mit.edu	37	6	27420364	27420364	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:27420364T>C	ENST00000211936.6	-	6	1258	c.974A>G	c.(973-975)cAg>cGg	p.Q325R	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q325R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGAATTCTCTGATGCTGAAC	0.403																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(973-975)cAg>cGg		zinc finger protein 184							50.0	51.0	51.0					6																	27420364		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420364T>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.974A>G	6.37:g.27420364T>C	ENSP00000211936:p.Gln325Arg					ZNF184_ENST00000377419.1_Missense_Mutation_p.Q325R	p.Q325R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1258	-			325					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.974A>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.459962	0.26248	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087;ENST00000538681	T;T	0.07327	3.2;3.2	4.8	4.8	0.61643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.478134	0.17935	N	0.157021	T	0.01254	0.0041	N	0.01649	-0.78	0.28089	N	0.931899	B	0.25441	0.126	B	0.19946	0.027	T	0.45760	-0.9239	10	0.49607	T	0.09	.	12.6228	0.56614	0.0:0.0:0.0:1.0	.	325	Q99676	ZN184_HUMAN	R	325;325;325;13	ENSP00000211936:Q325R;ENSP00000366636:Q325R	ENSP00000211936:Q325R	Q	-	2	0	ZNF184	27528343	0.061000	0.20836	1.000000	0.80357	0.998000	0.95712	0.763000	0.26517	2.148000	0.66965	0.455000	0.32223	CAG		0.403	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		32	42	0	0	0	1	0	32	42				
TRAF3IP2	10758	broad.mit.edu	37	6	111912597	111912597	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:111912597G>A	ENST00000340026.6	-	3	1314	c.720C>T	c.(718-720)ctC>ctT	p.L240L	TRAF3IP2_ENST00000359831.4_Silent_p.L231L|TRAF3IP2_ENST00000368761.5_Silent_p.L231L|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	240	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CCCTGGACCTGAGAGGTCTGG	0.572																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(691-693)ctC>ctT		TRAF3 interacting protein 2							72.0	75.0	74.0					6																	111912597		2203	4300	6503	SO:0001819	synonymous_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111912597G>A	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.720C>T	6.37:g.111912597G>A						TRAF3IP2_ENST00000359831.4_Silent_p.L231L|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Silent_p.L240L|TRAF3IP2_ENST00000392556.4_5'UTR	p.L231L	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	2	1171	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	240					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	ENST00000340026.6	37	c.693C>T																																																																																					0.572	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			62	99	0	0	0	1	0	62	99				
DIP2C	22982	broad.mit.edu	37	10	468941	468941	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:468941C>A	ENST00000280886.6	-	5	514	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	DIP2C_ENST00000381496.3_Missense_Mutation_p.V36L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	143						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCCCCCTGCACTGAGCCTTCA	0.562																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(427-429)Gtg>Ttg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							90.0	93.0	92.0					10																	468941		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:468941C>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.427G>T	10.37:g.468941C>A	ENSP00000280886:p.Val143Leu					DIP2C_ENST00000381496.3_Missense_Mutation_p.V36L	p.V143L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	5	514	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	143					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.427G>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	6.626	0.483977	0.12581	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.27104	2.07;1.69	5.39	5.39	0.77823	.	0.075665	0.51477	D	0.000087	T	0.10380	0.0254	N	0.03948	-0.315	0.42822	D	0.993996	B	0.02656	0.0	B	0.04013	0.001	T	0.12243	-1.0555	10	0.02654	T	1	-26.908	13.5111	0.61513	0.0:0.9252:0.0:0.0748	.	143	Q9Y2E4	DIP2C_HUMAN	L	143;36	ENSP00000280886:V143L;ENSP00000370907:V36L	ENSP00000280886:V143L	V	-	1	0	DIP2C	458941	0.909000	0.30893	0.994000	0.49952	0.842000	0.47809	2.102000	0.41796	2.539000	0.85634	0.460000	0.39030	GTG		0.562	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		58	128	1	0	7.10663e-31	1	8.21855e-31	58	128				
CPAMD8	27151	broad.mit.edu	37	19	17088291	17088291	+	Missense_Mutation	SNP	C	C	T	rs373943547		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:17088291C>T	ENST00000443236.1	-	15	1817	c.1786G>A	c.(1786-1788)Gtg>Atg	p.V596M	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	549						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTGGGGGTCACGGCCAGATGA	0.592																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(1786-1788)Gtg>Atg		C3 and PZP-like, alpha-2-macroglobulin domain containing 8		C	MET/VAL	0,3898		0,0,1949	42.0	48.0	46.0		1786	1.5	0.5	19		46	1,8275		0,1,4137	no	missense	CPAMD8	NM_015692.2	21	0,1,6086	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	596/1933	17088291	1,12173	1949	4138	6087	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17088291C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1786G>A	19.37:g.17088291C>T	ENSP00000402505:p.Val596Met					CPAMD8_ENST00000388925.4_Intron	p.V596M	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			15	1817	-			549					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.1786G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	c	13.53	2.265913	0.40095	0.0	1.21E-4	ENSG00000160111	ENST00000291440	.	.	.	2.62	1.51	0.23008	Alpha-2-macroglobulin, N-terminal 2 (1);	0.358092	0.21111	U	0.079996	T	0.61813	0.2377	M	0.85041	2.73	0.80722	D	1	D	0.55800	0.973	P	0.45998	0.5	T	0.69198	-0.5208	9	0.72032	D	0.01	.	9.1806	0.37138	0.0:0.7943:0.0:0.2057	.	549	Q8IZJ3	CPMD8_HUMAN	M	596	.	ENSP00000291440:V596M	V	-	1	0	CPAMD8	16949291	0.986000	0.35501	0.485000	0.27403	0.473000	0.32948	2.755000	0.47540	1.181000	0.42912	0.461000	0.40582	GTG		0.592	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		29	51	0	0	0	1	0	29	51				
WBP11	51729	broad.mit.edu	37	12	14946725	14946725	+	Missense_Mutation	SNP	C	C	T	rs150908147		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:14946725C>T	ENST00000261167.2	-	8	1086	c.853G>A	c.(853-855)Ggg>Agg	p.G285R		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	285	Asp-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.G285W(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AATTCATCCCCGTCACTTTCT	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		17639	0.0		0.0	False		,,,				2504	0.001					ENST00000261167.2																			1	Substitution - Missense(1)	p.G285W(1)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(853-855)Ggg>Agg		WW domain binding protein 11		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	341.0	298.0	313.0		853	5.2	1.0	12	dbSNP_134	313	0,8600		0,0,4300	no	missense	WBP11	NM_016312.2	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	285/642	14946725	1,13005	2203	4300	6503	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14946725C>T	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.853G>A	12.37:g.14946725C>T	ENSP00000261167:p.Gly285Arg					WBP11_ENST00000537574.1_Missense_Mutation_p.G285R	p.G285R	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			8	1086	-			285			Asp-rich.		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.853G>A	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598949	0.66332	2.27E-4	0.0	ENSG00000084463	ENST00000261167;ENST00000537574	D	0.89939	-2.59	5.23	5.23	0.72850	.	0.294191	0.32218	N	0.006405	D	0.85120	0.5624	L	0.50333	1.59	0.38758	D	0.95425	P	0.48589	0.912	B	0.36719	0.231	D	0.88703	0.3217	10	0.66056	D	0.02	-9.2113	16.2999	0.82804	0.0:1.0:0.0:0.0	.	285	Q9Y2W2	WBP11_HUMAN	R	285	ENSP00000442868:G285R	ENSP00000261167:G285R	G	-	1	0	WBP11	14837992	0.533000	0.26354	0.998000	0.56505	0.953000	0.61014	3.573000	0.53856	2.448000	0.82819	0.655000	0.94253	GGG		0.423	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		128	262	0	0	0	1	0	128	262				
CYP2R1	120227	broad.mit.edu	37	11	14901976	14901976	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:14901976C>T	ENST00000334636.5	-	3	752	c.706G>A	c.(706-708)Ggc>Agc	p.G236S	CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	236					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GGCAGGATGCCAATCCATGGA	0.398																																					NSCLC(173;1584 2058 26117 29365 41534)	ENST00000334636.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(706-708)Ggc>Agc		cytochrome P450, family 2, subfamily R, polypeptide 1	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						77.0	74.0	75.0					11																	14901976		2200	4293	6493	SO:0001583	missense	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14901976C>T	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.706G>A	11.37:g.14901976C>T	ENSP00000334592:p.Gly236Ser					CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	p.G236S	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN			3	752	-			236					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.706G>A	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059619	0.76074	.	.	ENSG00000186104	ENST00000334636	T	0.66815	-0.23	6.17	6.17	0.99709	.	0.143080	0.64402	D	0.000006	T	0.68081	0.2962	N	0.21373	0.66	0.80722	D	1	P;B	0.35774	0.519;0.004	P;B	0.47075	0.536;0.025	T	0.67669	-0.5611	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	121;236	E9PS56;Q6VVX0	.;CP2R1_HUMAN	S	236	ENSP00000334592:G236S	ENSP00000334592:G236S	G	-	1	0	CYP2R1	14858552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.964000	0.63701	2.941000	0.99782	0.655000	0.94253	GGC		0.398	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		31	83	0	0	0	1	0	31	83				
SOBP	55084	broad.mit.edu	37	6	107955178	107955178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:107955178G>A	ENST00000317357.5	+	6	1789	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCTCCCCTTGGCGTCCCGCCT	0.647																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(1129-1131)gGc>gAc		sine oculis binding protein homolog (Drosophila)							73.0	81.0	78.0					6																	107955178		2026	4181	6207	SO:0001583	missense	55084						metal ion binding	g.chr6:107955178G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1130G>A	6.37:g.107955178G>A	ENSP00000318900:p.Gly377Asp						p.G377D	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	1789	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	377			Pro-rich.			Missense_Mutation	SNP	ENST00000317357.5	37	c.1130G>A	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080010	0.76528	.	.	ENSG00000112320	ENST00000317357	T	0.33865	1.39	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12091	-1.0561	10	0.30078	T	0.28	-10.5217	19.3015	0.94145	0.0:0.0:1.0:0.0	.	377	A7XYQ1	SOBP_HUMAN	D	377	ENSP00000318900:G377D	ENSP00000318900:G377D	G	+	2	0	SOBP	108061871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.237000	0.78164	2.552000	0.86080	0.561000	0.74099	GGC		0.647	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		47	97	0	0	0	1	0	47	97				
KMT2D	8085	broad.mit.edu	37	12	49428450	49428450	+	Splice_Site	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:49428450C>G	ENST00000301067.7	-	36	10355		c.e36-1		KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CACTTGCTGTCTGGAGTCCAC	0.547																																						ENST00000301067.7																			0											c.e36-1		lysine (K)-specific methyltransferase 2D							40.0	40.0	40.0					12																	49428450		1942	4131	6073	SO:0001630	splice_region_variant	8085							g.chr12:49428450C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10356-1G>C	12.37:g.49428450C>G								NM_003482.3	NP_003473.3					36	10355	-								O14687	Splice_Site	SNP	ENST00000301067.7	37		CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367141	0.61513	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1649	0.81747	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47714717	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.631000	0.61304	2.779000	0.95612	0.655000	0.94253	.		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Intron	7	27	0	0	0	1	0	7	27				
CACNB2	783	broad.mit.edu	37	10	18629869	18629869	+	Intron	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:18629869G>A	ENST00000324631.7	+	3	273				CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000396576.2_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000377329.4_Missense_Mutation_p.R5H|CACNB2_ENST00000377328.1_Intron	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTGACAGACGCCTTATAGCT	0.478																																						ENST00000377329.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(13-15)cGc>cAc		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						150.0	150.0	150.0					10																	18629869		1918	4132	6050	SO:0001627	intron_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18629869G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.214-60984G>A	10.37:g.18629869G>A						CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000324631.7_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000396576.2_Intron	p.R5H	NM_201590.2	NP_963884.2	Q08289	CACB2_HUMAN			1	204	+			0					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.14G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173888	0.57692	.	.	ENSG00000165995	ENST00000377329	D	0.83075	-1.68	5.16	2.17	0.27698	.	.	.	.	.	T	0.64034	0.2562	N	0.08118	0	0.80722	D	1	B;B;B;B	0.09022	0.002;0.002;0.0;0.001	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.52442	-0.8575	9	0.42905	T	0.14	.	6.9937	0.24769	0.3105:0.0:0.6895:0.0	.	5;5;5;5	Q5QJ99;Q6TME0;Q6TME1;Q08289-3	.;.;.;.	H	5	ENSP00000366546:R5H	ENSP00000366546:R5H	R	+	2	0	CACNB2	18669875	1.000000	0.71417	0.479000	0.27329	0.503000	0.33858	2.038000	0.41184	0.283000	0.22279	0.655000	0.94253	CGC		0.478	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		48	120	0	0	0	1	0	48	120				
ZSCAN22	342945	broad.mit.edu	37	19	58850657	58850657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:58850657G>A	ENST00000329665.4	+	3	1588	c.1441G>A	c.(1441-1443)Gtt>Att	p.V481I		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	481					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)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AGCCCTGATGGTTCACTTGCG	0.587																																						ENST00000329665.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(1441-1443)Gtt>Att		zinc finger and SCAN domain containing 22							64.0	56.0	59.0					19																	58850657		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850657G>A	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1441G>A	19.37:g.58850657G>A	ENSP00000332433:p.Val481Ile						p.V481I	NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1588	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	481					Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.1441G>A	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	G	8.180	0.793639	0.16327	.	.	ENSG00000182318	ENST00000329665	T	0.06687	3.27	4.18	-2.56	0.06268	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06005	0.0156	L	0.39633	1.23	0.09310	N	1	B	0.15719	0.014	B	0.10450	0.005	T	0.40887	-0.9539	9	0.48119	T	0.1	.	2.7995	0.05410	0.3061:0.0:0.3574:0.3365	.	481	P10073	ZSC22_HUMAN	I	481	ENSP00000332433:V481I	ENSP00000332433:V481I	V	+	1	0	ZSCAN22	63542469	0.000000	0.05858	0.013000	0.15412	0.212000	0.24457	-0.866000	0.04245	-0.105000	0.12132	0.563000	0.77884	GTT		0.587	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		28	44	0	0	0	1	0	28	44				
EPHA10	284656	broad.mit.edu	37	1	38181550	38181550	+	IGR	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:38181550G>A	ENST00000373048.4	-	0	5425				EPHA10_ENST00000427468.2_3'UTR|EPHA10_ENST00000330210.7_Silent_p.C542C|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_3'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10						ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GATCTCAGACGCAGATTCTGG	0.557																																						ENST00000330210.7																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1624-1626)tgC>tgT		EPH receptor A10							84.0	79.0	80.0					1																	38181550		876	1991	2867	SO:0001628	intergenic_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38181550G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325		1.37:g.38181550G>A						EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_3'UTR	p.C542C			Q5JZY3	EPHAA_HUMAN			14	1939	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	0			Fibronectin type-III 2.		A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.1626C>T	CCDS41305.1																																																																																				0.557	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		18	43	0	0	0	1	0	18	43				
PHF2	5253	broad.mit.edu	37	9	96437264	96437264	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:96437264G>C	ENST00000359246.4	+	19	3049	c.2682G>C	c.(2680-2682)aaG>aaC	p.K894N	PHF2_ENST00000375376.4_Missense_Mutation_p.K125N	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	894					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCCGGTCGAAGAAAAGGAAAG	0.582																																						ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2680-2682)aaG>aaC		PHD finger protein 2							103.0	89.0	94.0					9																	96437264		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96437264G>C	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2682G>C	9.37:g.96437264G>C	ENSP00000352185:p.Lys894Asn					PHF2_ENST00000375376.4_Missense_Mutation_p.K125N	p.K894N	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	19	3049	+		Myeloproliferative disorder(762;0.0255)	894					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.2682G>C	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750279	0.49257	.	.	ENSG00000197724	ENST00000359246;ENST00000375376	T;T	0.60920	0.15;0.15	5.0	1.67	0.24075	.	0.048028	0.85682	D	0.000000	T	0.69124	0.3076	L	0.57536	1.79	0.43168	D	0.994966	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.70854	-0.4759	10	0.87932	D	0	-24.2466	11.5032	0.50450	0.2351:0.0:0.7649:0.0	.	313;894	Q8N359;O75151	.;PHF2_HUMAN	N	894;125	ENSP00000352185:K894N;ENSP00000364525:K125N	ENSP00000352185:K894N	K	+	3	2	PHF2	95477085	1.000000	0.71417	0.996000	0.52242	0.446000	0.32137	1.975000	0.40569	0.511000	0.28236	-0.137000	0.14449	AAG		0.582	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		17	94	0	0	0	1	0	17	94				
TBX20	57057	broad.mit.edu	37	7	35242348	35242348	+	Silent	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:35242348G>C	ENST00000408931.3	-	8	1564	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	346					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CCCAGGAGCTGAGAGACAAAT	0.438																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(1036-1038)ctC>ctG		T-box 20							17.0	16.0	16.0					7																	35242348		1790	4028	5818	SO:0001819	synonymous_variant	57057					nucleus	DNA binding	g.chr7:35242348G>C	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1038C>G	7.37:g.35242348G>C							p.L346L	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			8	1564	-			346					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	ENST00000408931.3	37	c.1038C>G	CCDS43568.1																																																																																				0.438	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		3	18	0	0	0	1	0	3	18				
SEMA5B	54437	broad.mit.edu	37	3	122645415	122645415	+	Silent	SNP	G	G	A	rs368230765		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:122645415G>A	ENST00000357599.3	-	9	1346	c.960C>T	c.(958-960)cgC>cgT	p.R320R	AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000195173.4_Silent_p.R320R|SEMA5B_ENST00000451055.2_Silent_p.R374R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	320	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TCTTGCACACGCGGGCCACGC	0.617																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(958-960)cgC>cgT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B		G		1,4405	2.1+/-5.4	0,1,2202	54.0	46.0	48.0		960	-4.8	0.8	3		48	0,8600		0,0,4300	no	coding-synonymous	SEMA5B	NM_001031702.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		320/1152	122645415	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122645415G>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.960C>T	3.37:g.122645415G>A						SEMA5B_ENST00000357599.3_Silent_p.R320R|SEMA5B_ENST00000451055.2_Silent_p.R374R	p.R320R			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	9	1263	-			320			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.960C>T	CCDS35491.1																																																																																				0.617	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		19	58	0	0	0	1	0	19	58				
MEIS1	4211	broad.mit.edu	37	2	66739354	66739354	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:66739354T>C	ENST00000272369.9	+	8	1273	c.816T>C	c.(814-816)cgT>cgC	p.R272R	MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000398506.2_Silent_p.R270R|MEIS1_ENST00000560281.2_Silent_p.R272R|MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000495021.2_Silent_p.R207R|MEIS1_ENST00000407092.2_Silent_p.R272R|MEIS1_ENST00000488550.1_Silent_p.R272R	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	272			R -> H (found in a patient with susceptibility to restless legs syndrome; dbSNP:rs61752693). {ECO:0000269|PubMed:19620614}.		angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						ACAAAAAGCGTCACAAAAAGC	0.438																																						ENST00000488550.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(814-816)cgT>cgC		Meis homeobox 1							57.0	61.0	60.0					2																	66739354		2088	4262	6350	SO:0001819	synonymous_variant	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66739354T>C		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.816T>C	2.37:g.66739354T>C						MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000398506.2_Silent_p.R270R|MEIS1_ENST00000560281.2_Silent_p.R272R|MEIS1_ENST00000407092.2_Silent_p.R272R|MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000272369.9_Silent_p.R272R|MEIS1_ENST00000495021.2_Silent_p.R207R	p.R272R			O00470	MEIS1_HUMAN			8	1115	+			272		R -> H (found in a patient with susceptibility to restless legs syndrome; also found in unaffected persons, although very rare; dbSNP:rs61752693).			A8MV50	Silent	SNP	ENST00000272369.9	37	c.816T>C	CCDS46309.1																																																																																				0.438	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		16	14	0	0	0	1	0	16	14				
MROH1	727957	broad.mit.edu	37	8	145223234	145223234	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:145223234A>G	ENST00000528919.1	+	3	180	c.59A>G	c.(58-60)aAg>aGg	p.K20R	MROH1_ENST00000534366.1_Missense_Mutation_p.K20R|MROH1_ENST00000398656.4_Missense_Mutation_p.K20R|MROH1_ENST00000326134.5_Missense_Mutation_p.K20R|MROH1_ENST00000423230.2_Missense_Mutation_p.K20R	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	20																	ATCACCGATAAGGACCCCCTG	0.667																																						ENST00000528919.1																			0											c.(58-60)aAg>aGg		maestro heat-like repeat family member 1							27.0	32.0	30.0					8																	145223234		2106	4218	6324	SO:0001583	missense	727957							g.chr8:145223234A>G		CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	26958	protein-coding gene	gene with protein product			"""HEAT repeat containing 7A"""	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.59A>G	8.37:g.145223234A>G	ENSP00000435565:p.Lys20Arg					MROH1_ENST00000534366.1_Missense_Mutation_p.K20R|MROH1_ENST00000398656.4_Missense_Mutation_p.K20R|MROH1_ENST00000326134.5_Missense_Mutation_p.K20R|MROH1_ENST00000423230.2_Missense_Mutation_p.K20R	p.K20R	NM_032450.2	NP_115826.2					3	180	+								C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	ENST00000528919.1	37	c.59A>G	CCDS47938.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.027444	0.35797	.	.	ENSG00000179832	ENST00000423230;ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134	T;T;T;T;T	0.67171	2.94;-0.25;-0.25;-0.25;-0.25	5.18	3.86	0.44501	Armadillo-like helical (1);Armadillo-type fold (1);	0.255131	0.29932	U	0.010825	T	0.62024	0.2394	M	0.61703	1.905	0.80722	D	1	B;B;B;B;B	0.27594	0.033;0.022;0.022;0.041;0.182	B;B;B;B;B	0.30029	0.056;0.011;0.011;0.045;0.11	T	0.58205	-0.7677	10	0.42905	T	0.14	.	9.2588	0.37599	0.9037:0.0:0.0963:0.0	.	20;20;20;20;20	Q8NDA8-2;E9PHY8;Q8NDA8;Q8NDA8-4;Q8NDA8-5	.;.;HTR7A_HUMAN;.;.	R	20	ENSP00000388174:K20R;ENSP00000381649:K20R;ENSP00000436636:K20R;ENSP00000435565:K20R;ENSP00000321737:K20R	ENSP00000321737:K20R	K	+	2	0	HEATR7A	145295222	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	3.844000	0.55873	0.770000	0.33336	0.460000	0.39030	AAG		0.667	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450		28	31	0	0	0	1	0	28	31				
PON3	5446	broad.mit.edu	37	7	95019514	95019514	+	Silent	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:95019514G>C	ENST00000265627.5	-	3	163	c.153C>G	c.(151-153)ggC>ggG	p.G51G	PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_Silent_p.G51G|PON3_ENST00000475439.1_5'UTR|PON3_ENST00000427422.1_Silent_p.G51G	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	51					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	TATCTTCAGAGCCACTTTCTG	0.378																																						ENST00000265627.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24						c.(151-153)ggC>ggG		paraoxonase 3							179.0	189.0	186.0					7																	95019514		2203	4300	6503	SO:0001819	synonymous_variant	5446							g.chr7:95019514G>C	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.153C>G	7.37:g.95019514G>C						PON3_ENST00000475439.1_5'UTR|PON3_ENST00000427422.1_Silent_p.G51G|PON1_ENST00000542556.1_Intron	p.G51G	NM_000940.2	NP_000931.1			STAD - Stomach adenocarcinoma(171;0.0151)		3	163	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)							A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Silent	SNP	ENST00000265627.5	37	c.153C>G	CCDS5639.1																																																																																				0.378	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		101	225	0	0	0	1	0	101	225				
TMEM154	201799	broad.mit.edu	37	4	153601078	153601078	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:153601078G>A	ENST00000304385.3	-	1	239	c.8C>T	c.(7-9)gCt>gTt	p.A3V	TMEM154_ENST00000504064.1_Missense_Mutation_p.A3V	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	3						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TGCGCGGGGAGCCTGCATGTC	0.642																																						ENST00000304385.3																			0				kidney(2)|large_intestine(1)	3						c.(7-9)gCt>gTt		transmembrane protein 154							11.0	14.0	13.0					4																	153601078		2190	4285	6475	SO:0001583	missense	201799					integral to membrane		g.chr4:153601078G>A	AK056590	CCDS3779.1	4q31.3	2008-02-05			ENSG00000170006	ENSG00000170006			26489	protein-coding gene	gene with protein product						12477932	Standard	NM_152680		Approved	FLJ32028	uc003imw.2	Q6P9G4	OTTHUMG00000161463	ENST00000304385.3:c.8C>T	4.37:g.153601078G>A	ENSP00000302144:p.Ala3Val					TMEM154_ENST00000504064.1_Missense_Mutation_p.A3V	p.A3V	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN			1	239	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	3					Q8WUT7|Q96MQ8	Missense_Mutation	SNP	ENST00000304385.3	37	c.8C>T	CCDS3779.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888336	0.72524	.	.	ENSG00000170006	ENST00000304385;ENST00000504064	T;T	0.39592	1.07;1.08	6.07	3.35	0.38373	.	1.186530	0.06259	N	0.693550	T	0.30262	0.0759	N	0.19112	0.55	0.09310	N	1	P	0.34724	0.465	B	0.32583	0.148	T	0.29640	-1.0005	10	0.87932	D	0	-17.071	7.8613	0.29511	0.084:0.311:0.605:0.0	.	3	Q6P9G4	TM154_HUMAN	V	3	ENSP00000302144:A3V;ENSP00000422156:A3V	ENSP00000302144:A3V	A	-	2	0	TMEM154	153820528	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	0.405000	0.21015	0.407000	0.25591	-0.175000	0.13238	GCT		0.642	TMEM154-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365024.1	NM_152680		5	14	0	0	0	1	0	5	14				
SYNCRIP	10492	broad.mit.edu	37	6	86328538	86328538	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:86328538T>C	ENST00000369622.3	-	10	1778	c.1278A>G	c.(1276-1278)caA>caG	p.Q426Q	SYNCRIP_ENST00000355238.6_Silent_p.Q426Q	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	426	Interaction with APOBEC1.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCACTCACATTTGATTTTTTG	0.308																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1276-1278)caA>caG		synaptotagmin binding, cytoplasmic RNA interacting protein							25.0	25.0	25.0					6																	86328538		2187	4286	6473	SO:0001819	synonymous_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86328538T>C	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1278A>G	6.37:g.86328538T>C						SYNCRIP_ENST00000369622.3_Silent_p.Q426Q	p.Q426Q	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	10	1484	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	426			Interaction with APOBEC1.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Silent	SNP	ENST00000369622.3	37	c.1278A>G	CCDS5005.1																																																																																				0.308	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		7	19	0	0	0	1	0	7	19				
HHIPL2	79802	broad.mit.edu	37	1	222717416	222717416	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:222717416G>A	ENST00000343410.6	-	2	495	c.437C>T	c.(436-438)tCa>tTa	p.S146L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	146					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGAAATGGCTGAGTGACAGTT	0.587																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(436-438)tCa>tTa		HHIP-like 2							83.0	95.0	91.0					1																	222717416		2059	4220	6279	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717416G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.437C>T	1.37:g.222717416G>A	ENSP00000342118:p.Ser146Leu						p.S146L	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	495	-			146					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.437C>T	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550598	0.45383	.	.	ENSG00000143512	ENST00000343410	T	0.47177	0.85	5.59	5.59	0.84812	Folate receptor-like (1);	0.541205	0.21324	N	0.076403	T	0.65091	0.2658	M	0.85859	2.78	0.38593	D	0.950489	P	0.47910	0.902	P	0.53035	0.716	T	0.68704	-0.5338	10	0.37606	T	0.19	-10.4223	14.7556	0.69560	0.0:0.1444:0.8556:0.0	.	146	Q6UWX4	HIPL2_HUMAN	L	146	ENSP00000342118:S146L	ENSP00000342118:S146L	S	-	2	0	HHIPL2	220784039	1.000000	0.71417	0.429000	0.26710	0.238000	0.25445	5.802000	0.69122	2.606000	0.88127	0.591000	0.81541	TCA		0.587	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		70	142	0	0	0	1	0	70	142				
EIF2AK1	27102	broad.mit.edu	37	7	6077129	6077129	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:6077129T>C	ENST00000199389.6	-	11	1404	c.1258A>G	c.(1258-1260)Aca>Gca	p.T420A	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.T296A	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	420	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AAAATTTTTGTTGCAACATTG	0.323																																						ENST00000199389.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27						c.(1258-1260)Aca>Gca		eukaryotic translation initiation factor 2-alpha kinase 1							118.0	107.0	110.0					7																	6077129		2203	4300	6503	SO:0001583	missense	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6077129T>C	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1258A>G	7.37:g.6077129T>C	ENSP00000199389:p.Thr420Ala					EIF2AK1_ENST00000536084.1_Missense_Mutation_p.T296A	p.T420A	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	11	1404	-		Ovarian(82;0.0423)	420			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	c.1258A>G	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	12.54	1.970104	0.34754	.	.	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000426957	T;T	0.22743	2.06;1.94	5.8	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.354612	0.33419	N	0.004938	T	0.18002	0.0432	N	0.16166	0.38	0.29041	N	0.885114	P;P;B	0.44690	0.77;0.841;0.146	P;B;B	0.49887	0.625;0.341;0.105	T	0.03077	-1.1075	10	0.44086	T	0.13	-14.4892	9.87	0.41168	0.2261:0.0:0.0:0.7739	.	296;419;420	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	A	420;296;47	ENSP00000199389:T420A;ENSP00000445784:T296A	ENSP00000199389:T420A	T	-	1	0	EIF2AK1	6043655	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.110000	0.31147	2.216000	0.71823	0.402000	0.26972	ACA		0.323	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		58	173	0	0	0	1	0	58	173				
RPS25	6230	broad.mit.edu	37	11	118888677	118888677	+	Silent	SNP	G	G	A	rs3209457		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:118888677G>A	ENST00000527673.1	-	2	495	c.90C>T	c.(88-90)gcC>gcT	p.A30A	TRAPPC4_ENST00000525303.1_5'Flank|TRAPPC4_ENST00000533632.1_5'Flank|RPS25_ENST00000528547.1_5'UTR|TRAPPC4_ENST00000528230.1_5'Flank|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000533058.1_5'Flank|TRAPPC4_ENST00000434101.2_5'Flank|TRAPPC4_ENST00000359005.4_5'Flank	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	30					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CCTTCTTTTTGGCCTTGCCCC	0.468																																						ENST00000527673.1																			0				endometrium(1)	1						c.(88-90)gcC>gcT		ribosomal protein S25							155.0	164.0	161.0					11																	118888677		2200	4295	6495	SO:0001819	synonymous_variant	6230				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding	g.chr11:118888677G>A	M64716	CCDS8406.1	11q23.3	2011-04-06			ENSG00000118181	ENSG00000118181		"""S ribosomal proteins"""	10413	protein-coding gene	gene with protein product		180465				1748303	Standard	NM_001028		Approved	S25	uc001pun.2	P62851	OTTHUMG00000166350	ENST00000527673.1:c.90C>T	11.37:g.118888677G>A						RPS25_ENST00000528547.1_5'UTR	p.A30A	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	2	495	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	30					B2R4M7|P25111	Silent	SNP	ENST00000527673.1	37	c.90C>T	CCDS8406.1																																																																																				0.468	RPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389324.1	NM_001028		63	128	0	0	0	1	0	63	128				
SORBS1	10580	broad.mit.edu	37	10	97174295	97174295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:97174295G>A	ENST00000361941.3	-	7	792	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	SORBS1_ENST00000371245.3_Missense_Mutation_p.R187C|SORBS1_ENST00000353505.5_Missense_Mutation_p.R187C|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Missense_Mutation_p.R247C|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.R256C|SORBS1_ENST00000371227.4_Missense_Mutation_p.R256C|SORBS1_ENST00000371247.2_Missense_Mutation_p.R256C|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.R247C|SORBS1_ENST00000371249.2_Missense_Mutation_p.R224C|SORBS1_ENST00000277982.5_Missense_Mutation_p.R256C	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAGACTCTGCGGAGGTCCTCC	0.637																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(766-768)Cgc>Tgc		sorbin and SH3 domain containing 1							34.0	35.0	35.0					10																	97174295		2202	4297	6499	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97174295G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.766C>T	10.37:g.97174295G>A	ENSP00000355136:p.Arg256Cys					SORBS1_ENST00000371227.4_Missense_Mutation_p.R256C|SORBS1_ENST00000371245.3_Missense_Mutation_p.R187C|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.R256C|SORBS1_ENST00000361941.3_Missense_Mutation_p.R256C|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.R256C|SORBS1_ENST00000393949.1_Missense_Mutation_p.R247C|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000354106.3_Missense_Mutation_p.R247C|SORBS1_ENST00000353505.5_Missense_Mutation_p.R187C|SORBS1_ENST00000371249.2_Missense_Mutation_p.R224C|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000347291.4_Intron	p.R256C			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	9	955	-		Colorectal(252;0.0429)	256						Missense_Mutation	SNP	ENST00000361941.3	37	c.766C>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877885	0.72294	.	.	ENSG00000095637	ENST00000371245;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T;T;T	0.47869	1.56;1.41;0.83;1.41;0.83;0.83;1.56;0.83;0.83;0.83	5.54	4.63	0.57726	.	0.700803	0.12501	N	0.463348	T	0.52901	0.1763	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.995;0.987;0.999;0.983;0.999	P;P;P;B;P;B;P	0.59221	0.854;0.731;0.59;0.401;0.736;0.288;0.851	T	0.55023	-0.8205	10	0.72032	D	0.01	1.0744	15.4621	0.75366	0.0:0.139:0.861:0.0	.	454;224;256;224;187;256;256	B7Z9B7;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66-3;Q9BX66;Q9BX66-2	.;.;.;.;.;SRBS1_HUMAN;.	C	187;224;256;256;256;247;187;256;256;247	ENSP00000360291:R187C;ENSP00000360295:R224C;ENSP00000360293:R256C;ENSP00000360271:R256C;ENSP00000360292:R256C;ENSP00000377521:R247C;ENSP00000343998:R187C;ENSP00000355136:R256C;ENSP00000277982:R256C;ENSP00000277984:R247C	ENSP00000277982:R256C	R	-	1	0	SORBS1	97164285	1.000000	0.71417	0.981000	0.43875	0.992000	0.81027	5.235000	0.65348	1.318000	0.45170	0.555000	0.69702	CGC		0.637	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			24	58	0	0	0	1	0	24	58				
DNAH17	8632	broad.mit.edu	37	17	76464798	76464798	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:76464798G>A	ENST00000585328.1	-	55	8788	c.8664C>T	c.(8662-8664)atC>atT	p.I2888I	DNAH17_ENST00000389840.5_Silent_p.I2879I|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2879	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGAGGAGATGATGTTCTCCA	0.537																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8635-8637)atC>atT		dynein, axonemal, heavy chain 17							88.0	91.0	90.0					17																	76464798		2019	4182	6201	SO:0001819	synonymous_variant	8632							g.chr17:76464798G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8664C>T	17.37:g.76464798G>A						DNAH17_ENST00000585328.1_Silent_p.I2888I|DNAH17_ENST00000586052.1_5'UTR	p.I2879I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		55	8761	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.8637C>T																																																																																					0.537	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		28	61	0	0	0	1	0	28	61				
EPS8L3	79574	broad.mit.edu	37	1	110294291	110294291	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:110294291G>A	ENST00000361965.4	-	16	1654	c.1548C>T	c.(1546-1548)ggC>ggT	p.G516G	EPS8L3_ENST00000361852.4_Silent_p.G486G|EPS8L3_ENST00000369805.3_Silent_p.G517G|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	516						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGGGTGACTGGCCCTGGGTCC	0.622																																						ENST00000369805.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1549-1551)ggC>ggT		EPS8-like 3							50.0	56.0	54.0					1																	110294291		2203	4300	6503	SO:0001819	synonymous_variant	79574					cytoplasm	protein binding	g.chr1:110294291G>A	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1548C>T	1.37:g.110294291G>A						EPS8L3_ENST00000361852.4_Silent_p.G486G|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Silent_p.G516G	p.G517G	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	16	1780	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	516					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Silent	SNP	ENST00000361965.4	37	c.1551C>T	CCDS814.1																																																																																				0.622	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		33	44	0	0	0	1	0	33	44				
CDH1	999	broad.mit.edu	37	16	68849489	68849489	+	Silent	SNP	C	C	T	rs373811706		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:68849489C>T	ENST00000261769.5	+	10	1583	c.1392C>T	c.(1390-1392)gtC>gtT	p.V464V	CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Silent_p.V403V	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	464	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTTTTGAGGTCTCTCTCACCA	0.498			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		1	Unknown(1)	p.?(1)	breast(1)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(1390-1392)gtC>gtT		cadherin 1, type 1, E-cadherin (epithelial)		C		0,4396		0,0,2198	170.0	142.0	152.0		1392	4.8	0.1	16		152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH1	NM_004360.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		464/883	68849489	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68849489C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1392C>T	16.37:g.68849489C>T						RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Silent_p.V403V|CDH1_ENST00000562836.1_3'UTR	p.V464V	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	10	1583	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	464			Cadherin 3.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Silent	SNP	ENST00000261769.5	37	c.1392C>T	CCDS10869.1																																																																																				0.498	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		69	66	0	0	0	1	0	69	66				
SALL3	27164	broad.mit.edu	37	18	76754297	76754297	+	Missense_Mutation	SNP	C	C	T	rs377294616		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr18:76754297C>T	ENST00000537592.2	+	2	2306	c.2306C>T	c.(2305-2307)aCg>aTg	p.T769M	SALL3_ENST00000536229.3_Missense_Mutation_p.T636M|SALL3_ENST00000575389.2_Missense_Mutation_p.T769M	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	769					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ATCCCCAACACGCCGCTGCCG	0.637																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1906-1908)aCg>aTg		spalt-like transcription factor 3		C	MET/THR	0,4406		0,0,2203	67.0	62.0	64.0		2306	5.3	1.0	18		64	3,8597	3.0+/-9.4	0,3,4297	no	missense	SALL3	NM_171999.2	81	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	769/1301	76754297	3,13003	2203	4300	6503	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754297C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2306C>T	18.37:g.76754297C>T	ENSP00000441823:p.Thr769Met					SALL3_ENST00000537592.2_Missense_Mutation_p.T769M|SALL3_ENST00000575389.2_Missense_Mutation_p.T769M	p.T636M			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2616	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	769					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1907C>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334728	0.41297	0.0	3.49E-4	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.12147	2.71	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000017	T	0.41558	0.1164	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.974	T	0.35076	-0.9803	10	0.72032	D	0.01	-43.6341	18.9687	0.92707	0.0:1.0:0.0:0.0	.	501;769	F5GXY4;Q9BXA9	.;SALL3_HUMAN	M	769;769;501	ENSP00000441823:T769M	ENSP00000299466:T769M	T	+	2	0	SALL3	74855285	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.755000	0.85180	2.477000	0.83638	0.561000	0.74099	ACG		0.637	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		17	28	0	0	0	1	0	17	28				
DNAJC14	85406	broad.mit.edu	37	12	56222003	56222003	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:56222003T>A	ENST00000357606.3	-	3	729	c.440A>T	c.(439-441)aAt>aTt	p.N147I	DNAJC14_ENST00000317269.3_Missense_Mutation_p.N147I|DNAJC14_ENST00000317287.5_Missense_Mutation_p.N147I|RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	147					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGAAGAACCATTTCCTCCCTC	0.483																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(439-441)aAt>aTt		DnaJ (Hsp40) homolog, subfamily C, member 14							115.0	119.0	118.0					12																	56222003		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56222003T>A	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.440A>T	12.37:g.56222003T>A	ENSP00000350223:p.Asn147Ile					DNAJC14_ENST00000317269.3_Missense_Mutation_p.N147I|DNAJC14_ENST00000317287.5_Missense_Mutation_p.N147I	p.N147I			Q6Y2X3	DJC14_HUMAN			3	729	-			147					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.440A>T	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	T	5.381	0.255550	0.10185	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287;ENST00000547445	T;T;T	0.31769	1.48;1.48;1.48	5.27	4.13	0.48395	.	0.410936	0.24625	N	0.036926	T	0.15869	0.0382	N	0.08118	0	0.09310	N	0.999992	B;B	0.17268	0.012;0.021	B;B	0.18871	0.023;0.023	T	0.17077	-1.0381	10	0.87932	D	0	-1.5277	7.8117	0.29234	0.0:0.0942:0.0:0.9058	.	147;147	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	I	147	ENSP00000350223:N147I;ENSP00000316240:N147I;ENSP00000317500:N147I	ENSP00000316240:N147I	N	-	2	0	DNAJC14	54508270	0.181000	0.23161	0.850000	0.33497	0.088000	0.18126	1.932000	0.40143	0.967000	0.38186	0.528000	0.53228	AAT		0.483	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		91	161	0	0	0	1	0	91	161				
DENND4B	9909	broad.mit.edu	37	1	153905961	153905961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:153905961C>T	ENST00000361217.4	-	20	3746	c.3328G>A	c.(3328-3330)Gag>Aag	p.E1110K	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1110	Ser-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGGCTACCTCGGAGGCAGTG	0.647																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(3328-3330)Gag>Aag		DENN/MADD domain containing 4B							14.0	16.0	15.0					1																	153905961		1874	4039	5913	SO:0001583	missense	9909							g.chr1:153905961C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3328G>A	1.37:g.153905961C>T	ENSP00000354597:p.Glu1110Lys						p.E1110K	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		20	3746	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1110			Ser-rich.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.3328G>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512625	0.64522	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.08720	3.16;3.06	5.17	5.17	0.71159	.	0.179477	0.47852	D	0.000220	T	0.03136	0.0092	N	0.24115	0.695	0.44424	D	0.997348	D	0.56968	0.978	B	0.38296	0.27	T	0.53837	-0.8382	10	0.37606	T	0.19	-22.6786	17.5946	0.88007	0.0:1.0:0.0:0.0	.	1110	O75064	DEN4B_HUMAN	K	1110;1121	ENSP00000354597:E1110K;ENSP00000357635:E1121K	ENSP00000354597:E1110K	E	-	1	0	DENND4B	152172585	0.998000	0.40836	0.991000	0.47740	0.582000	0.36321	5.085000	0.64468	2.686000	0.91538	0.455000	0.32223	GAG		0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		10	19	0	0	0	1	0	10	19				
PRKDC	5591	broad.mit.edu	37	8	48845609	48845609	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:48845609G>C	ENST00000314191.2	-	16	1803	c.1747C>G	c.(1747-1749)Ctt>Gtt	p.L583V	PRKDC_ENST00000338368.3_Missense_Mutation_p.L583V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	583					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGTATTTCAAGTGTAAGATCC	0.299								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(1747-1749)Ctt>Gtt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							38.0	34.0	35.0					8																	48845609		1802	4047	5849	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48845609G>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.1747C>G	8.37:g.48845609G>C	ENSP00000313420:p.Leu583Val					PRKDC_ENST00000338368.3_Missense_Mutation_p.L583V|PRKDC_ENST00000523565.1_5'UTR	p.L583V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			16	1803	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	583					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.1747C>G		.	.	.	.	.	.	.	.	.	.	G	0.254	-1.004587	0.02112	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.64803	-0.12;4.46	6.07	3.2	0.36748	Armadillo-type fold (1);	0.080756	0.49305	D	0.000147	T	0.34395	0.0896	.	.	.	0.31968	N	0.607481	B;B;B	0.19200	0.012;0.034;0.034	B;B;B	0.18871	0.023;0.021;0.021	T	0.36625	-0.9740	9	0.02654	T	1	.	8.8688	0.35303	0.1489:0.1896:0.6615:0.0	.	583;583;583	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	V	583	ENSP00000313420:L583V;ENSP00000345182:L583V	ENSP00000313420:L583V	L	-	1	0	PRKDC	49008162	0.995000	0.38212	0.973000	0.42090	0.167000	0.22549	1.969000	0.40510	0.907000	0.36646	-0.140000	0.14226	CTT		0.299	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		8	28	0	0	0	1	0	8	28				
DCLK1	9201	broad.mit.edu	37	13	36700037	36700037	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:36700037G>A	ENST00000360631.3	-	2	449	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	DCLK1_ENST00000379892.4_Missense_Mutation_p.R80W|DCLK1_ENST00000255448.4_Missense_Mutation_p.R80W			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	80	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GATCGGAACCGGTCTGGGGAG	0.507																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(238-240)Cgg>Tgg		doublecortin-like kinase 1							110.0	99.0	103.0					13																	36700037		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700037G>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.238C>T	13.37:g.36700037G>A	ENSP00000353846:p.Arg80Trp					DCLK1_ENST00000379892.4_Missense_Mutation_p.R80W|DCLK1_ENST00000360631.3_Missense_Mutation_p.R80W	p.R80W	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	449	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	80			Doublecortin 1.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.238C>T		.	.	.	.	.	.	.	.	.	.	G	20.4	3.984298	0.74474	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.93076	-3.16;-3.16;-3.16	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.97461	0.9169	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98121	1.0425	10	0.87932	D	0	.	14.5835	0.68308	0.0:0.0:0.8541:0.1459	.	80	O15075-2	.	W	80	ENSP00000255448:R80W;ENSP00000353846:R80W;ENSP00000369222:R80W	ENSP00000255448:R80W	R	-	1	2	DCLK1	35598037	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.326000	0.52037	2.671000	0.90904	0.650000	0.86243	CGG		0.507	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		40	122	0	0	0	1	0	40	122				
EPHA7	2045	broad.mit.edu	37	6	93956564	93956564	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:93956564T>A	ENST00000369303.4	-	15	2856	c.2672A>T	c.(2671-2673)gAc>gTc	p.D891V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	891	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AATCATTTTGTCTAGAATTCC	0.433																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2671-2673)gAc>gTc		EPH receptor A7							138.0	131.0	133.0					6																	93956564		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93956564T>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2672A>T	6.37:g.93956564T>A	ENSP00000358309:p.Asp891Val						p.D891V	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	15	2856	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	891			Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2672A>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.693504	0.68386	.	.	ENSG00000135333	ENST00000369303	T	0.61510	0.1	5.74	5.74	0.90152	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63390	0.2507	L	0.45228	1.405	0.80722	D	1	D;P;P	0.69078	0.997;0.67;0.54	D;B;B	0.75484	0.986;0.3;0.158	T	0.68481	-0.5397	10	0.87932	D	0	.	16.0417	0.80687	0.0:0.0:0.0:1.0	.	887;886;891	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	V	891	ENSP00000358309:D891V	ENSP00000358309:D891V	D	-	2	0	EPHA7	94013285	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.946000	0.87746	2.198000	0.70561	0.482000	0.46254	GAC		0.433	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			44	112	0	0	0	1	0	44	112				
CDAN1	146059	broad.mit.edu	37	15	43027800	43027800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:43027800C>T	ENST00000356231.3	-	4	874	c.851G>A	c.(850-852)gGa>gAa	p.G284E		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	284					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TGTGAGGCTTCCTGTCCGGCT	0.572																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(850-852)gGa>gAa		codanin 1							45.0	48.0	47.0					15																	43027800		2202	4292	6494	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43027800C>T	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.851G>A	15.37:g.43027800C>T	ENSP00000348564:p.Gly284Glu						p.G284E	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	4	874	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	284					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.851G>A	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931987	0.52866	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.86562	-2.14	5.68	5.68	0.88126	.	0.387651	0.29328	N	0.012462	D	0.86171	0.5869	L	0.34521	1.04	0.39728	D	0.971566	D	0.56035	0.974	P	0.53146	0.719	D	0.84179	0.0438	10	0.24483	T	0.36	-10.2267	15.299	0.73931	0.0:1.0:0.0:0.0	.	284	Q8IWY9	CDAN1_HUMAN	E	284;282	ENSP00000348564:G284E	ENSP00000267892:G282E	G	-	2	0	CDAN1	40815092	0.923000	0.31300	0.465000	0.27155	0.254000	0.26022	0.893000	0.28336	2.683000	0.91414	0.561000	0.74099	GGA		0.572	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		62	30	0	0	0	1	0	62	30				
DOCK10	55619	broad.mit.edu	37	2	225662626	225662626	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:225662626T>A	ENST00000258390.7	-	42	4634	c.4567A>T	c.(4567-4569)Atg>Ttg	p.M1523L	DOCK10_ENST00000409592.3_Missense_Mutation_p.M1517L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1523					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAAAAGAGCATGTAGGTATCA	0.408																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(4549-4551)Atg>Ttg		dedicator of cytokinesis 10							135.0	132.0	133.0					2																	225662626		1917	4138	6055	SO:0001583	missense	55619						GTP binding	g.chr2:225662626T>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4567A>T	2.37:g.225662626T>A	ENSP00000258390:p.Met1523Leu					DOCK10_ENST00000258390.7_Missense_Mutation_p.M1523L	p.M1517L			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	42	4662	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1523					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4549A>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	4.450	0.083235	0.08533	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.52057	0.68;0.68	5.95	3.61	0.41365	.	0.102804	0.64402	D	0.000002	T	0.13670	0.0331	N	0.01096	-1.015	0.35367	D	0.788767	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.33979	-0.9847	10	0.02654	T	1	.	6.9035	0.24295	0.2031:0.0:0.1848:0.6121	.	1523;377;1517;185	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	L	1517;1523;61	ENSP00000386694:M1517L;ENSP00000258390:M1523L	ENSP00000258390:M1523L	M	-	1	0	DOCK10	225370870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.324000	0.43831	2.279000	0.76181	0.533000	0.62120	ATG		0.408	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			51	58	0	0	0	1	0	51	58				
TP53	7157	broad.mit.edu	37	17	7579521	7579521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:7579521C>A	ENST00000269305.4	-	4	355	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E56*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E56*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E56*	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	56	Interaction with HRMT1L2.		E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(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)	CCTGGGTCTTCAGTGAACCAT	0.597		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		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"""		27	Whole gene deletion(8)|Substitution - Nonsense(7)|Deletion - Frameshift(6)|Insertion - Frameshift(3)|Substitution - Missense(3)	p.0?(8)|p.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(4)|bone(4)|liver(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|breast(2)|pancreas(2)|large_intestine(1)|stomach(1)|endometrium(1)|lung(1)|skin(1)|prostate(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						c.(166-168)Gaa>Taa	Other conserved DNA damage response genes	tumor protein p53							158.0	159.0	159.0					17																	7579521		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7579521C>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.166G>T	17.37:g.7579521C>A	ENSP00000269305:p.Glu56*	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_ENST00000269305.4_Nonsense_Mutation_p.E56*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E56*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E56*	p.E56*	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)	4	298	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	56		E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.166G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594134	0.46214	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.33	0.2	0.15181	.	1.101100	0.06919	N	0.809088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.0048	3.4906	0.07636	0.0:0.5368:0.2153:0.2479	.	.	.	.	X	56	.	ENSP00000269305:E56X	E	-	1	0	TP53	7520246	0.064000	0.20934	0.001000	0.08648	0.010000	0.07245	0.714000	0.25808	0.099000	0.17552	-0.264000	0.10439	GAA		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		85	197	1	0	9.01214e-43	1	1.04936e-42	85	197				
MAL	4118	broad.mit.edu	37	2	95713749	95713749	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:95713749C>T	ENST00000309988.4	+	2	248	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	MAL_ENST00000353004.3_Missense_Mutation_p.P47S|MAL_ENST00000354078.3_Intron|MAL_ENST00000349807.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	47	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CTCCCTGGTGCCCTGGCCCCT	0.632																																						ENST00000309988.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10						c.(139-141)Ccc>Tcc		mal, T-cell differentiation protein							72.0	66.0	68.0					2																	95713749		2202	4300	6502	SO:0001583	missense	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95713749C>T		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.139C>T	2.37:g.95713749C>T	ENSP00000310880:p.Pro47Ser					MAL_ENST00000353004.3_Missense_Mutation_p.P47S|MAL_ENST00000354078.3_Intron|MAL_ENST00000349807.3_Intron	p.P47S	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	2	248	+			47			MARVEL.		Q6FH77	Missense_Mutation	SNP	ENST00000309988.4	37	c.139C>T	CCDS2006.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582677	0.28180	.	.	ENSG00000172005	ENST00000309988;ENST00000353004	T;T	0.43688	1.78;0.94	5.77	4.87	0.63330	Marvel (1);MARVEL-like domain (1);	0.907664	0.09594	N	0.781185	T	0.61949	0.2388	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.969;0.988	T	0.46498	-0.9187	10	0.22109	T	0.4	.	12.6156	0.56576	0.0:0.8336:0.1664:0.0	.	47;47	P21145-2;P21145	.;MAL_HUMAN	S	47	ENSP00000310880:P47S;ENSP00000306568:P47S	ENSP00000310880:P47S	P	+	1	0	MAL	95077476	0.088000	0.21588	0.997000	0.53966	0.298000	0.27526	1.121000	0.31283	1.396000	0.46663	0.561000	0.74099	CCC		0.632	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		37	82	0	0	0	1	0	37	82				
PLA2G3	50487	broad.mit.edu	37	22	31534395	31534395	+	Splice_Site	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:31534395A>G	ENST00000215885.3	-	3	901	c.649T>C	c.(649-651)Ttt>Ctt	p.F217L		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	217	Phospholipase A2-like.				acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CATTGCTGAAACCTGCCCCAG	0.602																																						ENST00000215885.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.e3-1		phospholipase A2, group III							65.0	53.0	57.0					22																	31534395		2203	4300	6503	SO:0001630	splice_region_variant	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31534395A>G	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.648-1T>C	22.37:g.31534395A>G							p.F217_splice	NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN			3	901	-			217			Phospholipase A2-like.		O95768	Splice_Site	SNP	ENST00000215885.3	37	c.647_splice	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067492	0.76301	.	.	ENSG00000100078	ENST00000215885	T	0.30448	1.53	5.32	5.32	0.75619	Phospholipase A2 (3);	0.000000	0.85682	D	0.000000	T	0.50360	0.1611	L	0.52759	1.655	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.49808	-0.8900	10	0.56958	D	0.05	-15.3715	15.5719	0.76345	1.0:0.0:0.0:0.0	.	217	Q9NZ20	PA2G3_HUMAN	L	217	ENSP00000215885:F217L	ENSP00000215885:F217L	F	-	1	0	PLA2G3	29864395	1.000000	0.71417	0.993000	0.49108	0.227000	0.25037	8.471000	0.90403	2.142000	0.66516	0.459000	0.35465	TTT		0.602	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715	Missense_Mutation	11	51	0	0	0	1	0	11	51				
SLC27A6	28965	broad.mit.edu	37	5	128365282	128365282	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:128365282G>C	ENST00000262462.4	+	9	2575	c.1565G>C	c.(1564-1566)aGa>aCa	p.R522T	SLC27A6_ENST00000506176.1_Missense_Mutation_p.R522T|SLC27A6_ENST00000395266.1_Missense_Mutation_p.R522T			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	522					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TATGAAGGAAGAGCAGGAATG	0.303																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(1564-1566)aGa>aCa		solute carrier family 27 (fatty acid transporter), member 6							49.0	50.0	50.0					5																	128365282		2200	4289	6489	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128365282G>C	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1565G>C	5.37:g.128365282G>C	ENSP00000262462:p.Arg522Thr					SLC27A6_ENST00000506176.1_Missense_Mutation_p.R522T|SLC27A6_ENST00000395266.1_Missense_Mutation_p.R522T	p.R522T			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	9	2575	+		all_cancers(142;0.0483)|Prostate(80;0.055)	522					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.1565G>C	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728261	0.48833	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.48836	0.8;0.8;0.8	4.43	2.03	0.26663	.	0.147063	0.56097	D	0.000036	T	0.67297	0.2878	H	0.97940	4.11	0.25662	N	0.985994	P	0.39903	0.694	P	0.45310	0.476	T	0.65578	-0.6134	9	.	.	.	-20.4553	9.3746	0.38275	0.8648:0.0:0.1352:0.0	.	522	Q9Y2P4	S27A6_HUMAN	T	522	ENSP00000262462:R522T;ENSP00000378684:R522T;ENSP00000421024:R522T	.	R	+	2	0	SLC27A6	128393181	0.999000	0.42202	0.999000	0.59377	0.963000	0.63663	3.059000	0.49947	0.459000	0.27016	-0.781000	0.03364	AGA		0.303	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		23	67	0	0	0	1	0	23	67				
SLC9A3R2	9351	broad.mit.edu	37	16	2086358	2086358	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:2086358C>T	ENST00000424542.2	+	3	586	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.R39W|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.R44W|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.R150W	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	150	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						GCTGCGCCCTCGGCTCTGCCA	0.667																																					Ovarian(69;105 1552 17724 23473)	ENST00000424542.2																			0				central_nervous_system(1)|endometrium(1)	2						c.(448-450)Cgg>Tgg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2							17.0	23.0	21.0					16																	2086358		2080	4211	6291	SO:0001583	missense	9351				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding	g.chr16:2086358C>T	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.448C>T	16.37:g.2086358C>T	ENSP00000408005:p.Arg150Trp					SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.R150W|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.R39W|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.R44W	p.R150W	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN			3	586	+			150			PDZ 2.		D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	c.448C>T	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	c	13.66	2.302643	0.40795	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.57595	0.39;0.39	3.9	1.81	0.25067	PDZ/DHR/GLGF (1);	0.062945	0.64402	D	0.000003	T	0.75117	0.3806	M	0.91140	3.18	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.77918	-0.2408	10	0.87932	D	0	-17.2234	11.4169	0.49958	0.3357:0.6643:0.0:0.0	.	185;150;150	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	W	150	ENSP00000408005:R150W;ENSP00000402857:R150W	ENSP00000408005:R150W	R	+	1	2	SLC9A3R2	2026359	0.926000	0.31397	0.698000	0.30274	0.905000	0.53344	1.998000	0.40796	0.237000	0.21200	0.306000	0.20318	CGG		0.667	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			10	11	0	0	0	1	0	10	11				
ANKRD30A	91074	broad.mit.edu	37	10	37508487	37508487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:37508487C>T	ENST00000602533.1	+	34	3778	c.3679C>T	c.(3679-3681)Cat>Tat	p.H1227Y	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.H1346Y|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1227Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1283					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H1227D(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGTTTCAGAACATGCACAAAG	0.373																																						ENST00000374660.1																			1	Substitution - Missense(1)	p.H1227D(1)	lung(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(4036-4038)Cat>Tat		ankyrin repeat domain 30A							71.0	60.0	64.0					10																	37508487		1905	4118	6023	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508487C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3679C>T	10.37:g.37508487C>T	ENSP00000473551:p.His1227Tyr					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1227Y|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H1227Y	p.H1346Y			Q9BXX3	AN30A_HUMAN			40	4135	+			1283					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.4036C>T		.	.	.	.	.	.	.	.	.	.	c	0.011	-1.725494	0.00694	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.14766	2.48;2.48	2.91	-5.82	0.02333	.	.	.	.	.	T	0.09730	0.0239	M	0.64170	1.965	0.09310	N	1	P	0.39940	0.696	B	0.34242	0.178	T	0.01065	-1.1463	9	0.66056	D	0.02	.	1.1735	0.01830	0.2651:0.1657:0.363:0.2061	.	1283	Q9BXX3	AN30A_HUMAN	Y	1227;1346	ENSP00000354432:H1227Y;ENSP00000363792:H1346Y	ENSP00000354432:H1227Y	H	+	1	0	ANKRD30A	37548493	0.025000	0.19082	0.000000	0.03702	0.001000	0.01503	0.047000	0.14056	-2.884000	0.00318	-2.244000	0.00286	CAT		0.373	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		19	51	0	0	0	1	0	19	51				
DRD5	1816	broad.mit.edu	37	4	9784853	9784853	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:9784853C>G	ENST00000304374.2	+	1	1596	c.1200C>G	c.(1198-1200)atC>atG	p.I400M		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	400					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.I400M(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ACCAAGACATCGTCTTCCACA	0.592																																						ENST00000304374.2																			2	Substitution - Missense(2)	p.I400M(2)	endometrium(1)|kidney(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(1198-1200)atC>atG		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						97.0	78.0	84.0					4																	9784853		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784853C>G	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1200C>G	4.37:g.9784853C>G	ENSP00000306129:p.Ile400Met						p.I400M	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	1596	+			400					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1200C>G	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	2.136	-0.397995	0.04865	.	.	ENSG00000169676	ENST00000304374	T	0.65364	-0.15	4.73	-9.46	0.00597	.	0.191884	0.44688	D	0.000429	T	0.27098	0.0664	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.04650	-1.0936	10	0.33141	T	0.24	.	5.418	0.16384	0.1584:0.2933:0.4256:0.1227	.	400	P21918	DRD5_HUMAN	M	400	ENSP00000306129:I400M	ENSP00000306129:I400M	I	+	3	3	DRD5	9393951	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-2.589000	0.00900	-1.894000	0.01105	-1.614000	0.00798	ATC		0.592	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			3	66	0	0	0	1	0	3	66				
MARCH6	10299	broad.mit.edu	37	5	10433762	10433762	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:10433762C>T	ENST00000274140.5	+	26	2831	c.2699C>T	c.(2698-2700)tCa>tTa	p.S900L	MARCH6_ENST00000449913.2_Missense_Mutation_p.S852L|MARCH6_ENST00000510792.1_Missense_Mutation_p.S598L|MARCH6_ENST00000503788.1_Missense_Mutation_p.S795L	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	900					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AAACAAGGCTCATCTCCACCA	0.443																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2698-2700)tCa>tTa		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							230.0	182.0	198.0					5																	10433762		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10433762C>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2699C>T	5.37:g.10433762C>T	ENSP00000274140:p.Ser900Leu					MARCH6_ENST00000503788.1_Missense_Mutation_p.S795L|MARCH6_ENST00000510792.1_Missense_Mutation_p.S598L|MARCH6_ENST00000449913.2_Missense_Mutation_p.S852L	p.S900L	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			26	2831	+			900					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2699C>T	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182969	0.57800	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.45668	1.9;0.89;1.9;0.89	5.61	5.61	0.85477	.	0.398607	0.29972	N	0.010730	T	0.36635	0.0974	L	0.33485	1.01	0.37981	D	0.933598	B;B;B;B	0.11235	0.004;0.002;0.004;0.002	B;B;B;B	0.16289	0.015;0.003;0.015;0.007	T	0.16394	-1.0404	10	0.25751	T	0.34	-4.6422	19.6512	0.95812	0.0:1.0:0.0:0.0	.	795;852;480;900	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	L	852;795;900;598	ENSP00000414643:S852L;ENSP00000425930:S795L;ENSP00000274140:S900L;ENSP00000424512:S598L	ENSP00000274140:S900L	S	+	2	0	MARCH6	10486762	1.000000	0.71417	0.702000	0.30337	0.426000	0.31534	7.131000	0.77243	2.646000	0.89796	0.563000	0.77884	TCA		0.443	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		23	54	0	0	0	1	0	23	54				
LINC00969	440993	broad.mit.edu	37	3	195395402	195395402	+	lincRNA	SNP	C	C	A	rs199554501	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:195395402C>A	ENST00000445430.1	+	0	809									long intergenic non-protein coding RNA 969																		TACGGGCGCACCTACTTGAGC	0.597																																						ENST00000445430.1																			0																																																			440993							g.chr3:195395402C>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395402C>A														0	809	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			8	102	1	0	6.31663e-08	1	6.75363e-08	8	102				
ADCY3	109	broad.mit.edu	37	2	25061315	25061315	+	Splice_Site	SNP	G	G	A	rs139407103	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:25061315G>A	ENST00000260600.5	-	7	2383	c.1532C>T	c.(1531-1533)tCg>tTg	p.S511L	ADCY3_ENST00000405392.1_Splice_Site_p.S144L	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	511					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ggAACTCACCGAGCCATTGAG	0.547													G|||	2	0.000399361	0.0	0.0	5008	,	,		6519	0.0		0.002	False		,,,				2504	0.0					ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.e7+1		adenylate cyclase 3		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	87.0	79.0	82.0		1532	3.0	1.0	2	dbSNP_134	82	14,8586	10.5+/-38.8	0,14,4286	yes	missense-near-splice	ADCY3	NM_004036.3	145	0,15,6488	AA,AG,GG		0.1628,0.0227,0.1153	benign	511/1145	25061315	15,12991	2203	4300	6503	SO:0001630	splice_region_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25061315G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1533+1C>T	2.37:g.25061315G>A						ADCY3_ENST00000405392.1_Splice_Site_p.S144_splice	p.S511_splice	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			7	2383	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		511					B3KT86|Q53T54|Q9UDB1	Splice_Site	SNP	ENST00000260600.5	37	c.1533_splice	CCDS1715.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	2.768	-0.256326	0.05829	2.27E-4	0.001628	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000454027;ENST00000427849;ENST00000435135	T;D;T;T;T	0.81659	-1.38;-1.52;-1.38;-1.33;-0.86	4.77	2.98	0.34508	.	0.606256	0.16996	N	0.191106	T	0.51210	0.1661	N	0.03608	-0.345	0.27882	N	0.939655	B;B;B	0.20887	0.028;0.049;0.0	B;B;B	0.09377	0.004;0.004;0.001	T	0.45086	-0.9285	10	0.05351	T	0.99	.	6.4512	0.21903	0.3372:0.0:0.6627:0.0	.	511;511;144	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	L	511;144;486;137;267;461	ENSP00000260600:S511L;ENSP00000384484:S144L;ENSP00000410120:S137L;ENSP00000399275:S267L;ENSP00000389799:S461L	ENSP00000260600:S511L	S	-	2	0	ADCY3	24914819	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	2.973000	0.49264	0.609000	0.30018	-0.137000	0.14449	TCG		0.547	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2		Missense_Mutation	12	67	0	0	0	1	0	12	67				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	90	0	0	0	1	0	5	90				
GGT1	2678	broad.mit.edu	37	22	25016313	25016313	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:25016313T>A	ENST00000400382.1	+	8	1156	c.401T>A	c.(400-402)gTg>gAg	p.V134E	GGT1_ENST00000248923.4_Missense_Mutation_p.V134E|GGT1_ENST00000406383.2_Missense_Mutation_p.V134E|GGT1_ENST00000400383.1_Missense_Mutation_p.V134E|GGT1_ENST00000400380.1_Missense_Mutation_p.V134E			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	134					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TCGGTGGCGGTGCCTGGGGAG	0.682																																						ENST00000400382.1																			0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(400-402)gTg>gAg		gamma-glutamyltransferase 1	Glutathione(DB00143)						15.0	18.0	17.0					22																	25016313		1850	4090	5940	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25016313T>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.401T>A	22.37:g.25016313T>A	ENSP00000383232:p.Val134Glu					GGT1_ENST00000400383.1_Missense_Mutation_p.V134E|GGT1_ENST00000248923.4_Missense_Mutation_p.V134E|GGT1_ENST00000400380.1_Missense_Mutation_p.V134E|GGT1_ENST00000406383.2_Missense_Mutation_p.V134E	p.V134E			P19440	GGT1_HUMAN			8	1156	+			134					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.401T>A	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	14.14	2.445255	0.43429	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000419133;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383	T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13	3.35	3.35	0.38373	.	0.162693	0.40385	U	0.001105	T	0.62732	0.2452	H	0.99197	4.465	0.53688	D	0.999972	D	0.89917	1.0	D	0.85130	0.997	T	0.76239	-0.3032	10	0.87932	D	0	-19.4574	11.2329	0.48923	0.0:0.0:0.0:1.0	.	134	P19440	GGT1_HUMAN	E	134	ENSP00000248923:V134E;ENSP00000393537:V134E;ENSP00000395271:V134E;ENSP00000383232:V134E;ENSP00000383233:V134E;ENSP00000383231:V134E;ENSP00000385975:V134E	ENSP00000248923:V134E	V	+	2	0	GGT1	23346313	1.000000	0.71417	0.026000	0.17262	0.003000	0.03518	7.616000	0.83018	1.299000	0.44798	0.374000	0.22700	GTG		0.682	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		5	40	0	0	0	1	0	5	40				
POLR2B	5431	broad.mit.edu	37	4	57876368	57876368	+	Intron	SNP	T	T	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:57876368T>G	ENST00000381227.1	+	12	1817				POLR2B_ENST00000510355.1_Splice_Site|POLR2B_ENST00000441246.2_Intron|POLR2B_ENST00000314595.5_Intron|POLR2B_ENST00000431623.2_Intron			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa						7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AAGTGGCAGGTAAGTTAAAGT	0.353																																						ENST00000510355.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.e1+2		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa																																				SO:0001627	intron_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57876368T>G		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1405-159T>G	4.37:g.57876368T>G						POLR2B_ENST00000441246.2_Intron|POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000381227.1_Intron|POLR2B_ENST00000314595.5_Intron				P30876	RPB2_HUMAN			1	28	+	Glioma(25;0.08)|all_neural(26;0.181)							A8K1A8|Q8IZ61	Splice_Site	SNP	ENST00000381227.1	37		CCDS3511.1																																																																																				0.353	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		9	11	0	0	0	1	0	9	11				
TRGC2	6967	broad.mit.edu	37	7	38289117	38289117	+	RNA	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:38289117C>A	ENST00000436911.2	-	0	56							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TTTGTTTCAGCAATCGAAGGA	0.358																																						ENST00000436911.2																			0																				146.0	159.0	155.0					7																	38289117		1800	4063	5863			6967							g.chr7:38289117C>A	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38289117C>A														0	56	-									RNA	SNP	ENST00000436911.2	37																																																																																						0.358	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		104	170	1	0	1.95558e-62	1	2.29275e-62	104	170				
DNAJC2	27000	broad.mit.edu	37	7	102982244	102982244	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:102982244G>A	ENST00000379263.3	-	2	472	c.222C>T	c.(220-222)ccC>ccT	p.P74P	DNAJC2_ENST00000249270.7_Silent_p.P74P|DNAJC2_ENST00000412522.1_Silent_p.P74P	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	74					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTTTCAGCATGGGAAACTCTT	0.373																																						ENST00000412522.1																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(220-222)ccC>ccT		DnaJ (Hsp40) homolog, subfamily C, member 2							134.0	123.0	127.0					7																	102982244		1825	4088	5913	SO:0001819	synonymous_variant	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102982244G>A	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.222C>T	7.37:g.102982244G>A						DNAJC2_ENST00000379263.3_Silent_p.P74P|DNAJC2_ENST00000249270.7_Silent_p.P74P	p.P74P			Q99543	DNJC2_HUMAN			2	429	-			74					A4VCI0|Q9BVX1	Silent	SNP	ENST00000379263.3	37	c.222C>T	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	G	9.398	1.077156	0.20227	.	.	ENSG00000105821	ENST00000426036	T	0.21543	2.0	5.01	4.0	0.46444	.	0.161276	0.56097	D	0.000027	T	0.25419	0.0618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01093	-1.1454	7	0.30854	T	0.27	0.0265	9.1845	0.37163	0.1733:0.0:0.8267:0.0	.	.	.	.	L	63	ENSP00000412611:P63L	ENSP00000412611:P63L	P	-	2	0	DNAJC2	102769480	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.824000	0.27379	2.344000	0.79699	0.460000	0.39030	CCA		0.373	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			57	115	0	0	0	1	0	57	115				
CDYL	9425	broad.mit.edu	37	6	4892155	4892155	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:4892155A>T	ENST00000328908.5	+	4	526	c.395A>T	c.(394-396)aAt>aTt	p.N132I	CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_De_novo_Start_OutOfFrame|CDYL_ENST00000449732.2_De_novo_Start_OutOfFrame|CDYL_ENST00000397588.3_Missense_Mutation_p.N78I			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	132	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TCTCCCAACAATGCTAGGAAA	0.483																																						ENST00000343762.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30								chromodomain protein, Y-like							164.0	175.0	171.0					6																	4892155		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4892155A>T	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.395A>T	6.37:g.4892155A>T	ENSP00000330512:p.Asn132Ile					CDYL_ENST00000472453.1_Intron|CDYL_ENST00000449732.2_De_novo_Start_OutOfFrame|CDYL_ENST00000328908.5_Missense_Mutation_p.N132I|CDYL_ENST00000397588.3_Missense_Mutation_p.N78I		NM_001143971.1	NP_001137443.1	Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	0	344	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)						A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Translation_Start_Site	SNP	ENST00000328908.5	37			.	.	.	.	.	.	.	.	.	.	A	26.6	4.755209	0.89843	.	.	ENSG00000153046	ENST00000328908;ENST00000397588	T;T	0.57907	0.78;0.37	5.79	5.79	0.91817	.	0.120167	0.56097	D	0.000040	T	0.64136	0.2571	M	0.66939	2.045	0.80722	D	1	P;D	0.89917	0.933;1.0	P;D	0.71184	0.786;0.972	T	0.69254	-0.5193	10	0.87932	D	0	.	15.3199	0.74112	1.0:0.0:0.0:0.0	.	78;132	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	I	132;78	ENSP00000330512:N132I;ENSP00000380718:N78I	ENSP00000330512:N132I	N	+	2	0	CDYL	4837154	1.000000	0.71417	0.950000	0.38849	0.989000	0.77384	4.726000	0.61986	2.205000	0.71048	0.528000	0.53228	AAT		0.483	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		41	45	0	0	0	1	0	41	45				
RNPEP	6051	broad.mit.edu	37	1	201965306	201965306	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:201965306G>C	ENST00000295640.4	+	4	812	c.769G>C	c.(769-771)Gat>Cat	p.D257H	RNPEP_ENST00000367286.3_Intron|RP11-465N4.5_ENST00000608886.1_RNA|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	257					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CTGCCTGATTGATGCTGCCAA	0.493																																					GBM(19;39 479 7473 13131 19462)	ENST00000295640.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(769-771)Gat>Cat		arginyl aminopeptidase (aminopeptidase B)							179.0	165.0	170.0					1																	201965306		2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201965306G>C	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.769G>C	1.37:g.201965306G>C	ENSP00000295640:p.Asp257His					RNPEP_ENST00000367286.3_Intron|RNPEP_ENST00000471105.1_3'UTR	p.D257H	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	4	812	+			257					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.769G>C	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	G	8.363	0.833533	0.16820	.	.	ENSG00000176393	ENST00000295640;ENST00000447312;ENST00000449524	T;T;T	0.02787	4.16;4.16;4.16	5.3	3.41	0.39046	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.586739	0.16794	N	0.199247	T	0.08980	0.0222	L	0.61387	1.9	0.09310	N	0.999998	P;P	0.41978	0.767;0.564	P;P	0.53266	0.722;0.722	T	0.03175	-1.1064	10	0.72032	D	0.01	-2.5654	10.7903	0.46429	0.1597:0.0:0.8403:0.0	.	265;257	Q7RU04;Q9H4A4	.;AMPB_HUMAN	H	257;126;3	ENSP00000295640:D257H;ENSP00000389602:D126H;ENSP00000407614:D3H	ENSP00000295640:D257H	D	+	1	0	RNPEP	200231929	0.148000	0.22702	0.314000	0.25224	0.206000	0.24218	0.875000	0.28079	1.204000	0.43247	0.655000	0.94253	GAT		0.493	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		58	108	0	0	0	1	0	58	108				
MSR1	4481	broad.mit.edu	37	8	16032716	16032716	+	Missense_Mutation	SNP	G	G	T	rs533130717		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:16032716G>T	ENST00000262101.5	-	3	318	c.197C>A	c.(196-198)cCt>cAt	p.P66H	MSR1_ENST00000355282.2_Missense_Mutation_p.P66H|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.P66H|MSR1_ENST00000350896.3_Missense_Mutation_p.P66H|MSR1_ENST00000445506.2_Missense_Mutation_p.P84H			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	66					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCCAATGAGAGGGATGAGAAC	0.413																																						ENST00000350896.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(196-198)cCt>cAt		macrophage scavenger receptor 1							126.0	120.0	122.0					8																	16032716		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16032716G>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.197C>A	8.37:g.16032716G>T	ENSP00000262101:p.Pro66His					MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Missense_Mutation_p.P66H|MSR1_ENST00000262101.5_Missense_Mutation_p.P66H|MSR1_ENST00000445506.2_Missense_Mutation_p.P84H|MSR1_ENST00000381998.4_Missense_Mutation_p.P66H	p.P66H	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	3	394	-			66					D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.197C>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611690	0.66558	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	D;D;D;D;D	0.91351	-2.44;-2.18;-2.19;-2.44;-2.83	5.34	5.34	0.76211	Macrophage scavenger receptor (1);	0.000000	0.56097	D	0.000029	D	0.94751	0.8306	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.94611	0.7804	10	0.56958	D	0.05	.	14.9277	0.70893	0.0:0.0:1.0:0.0	.	84;66;66;66	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	H	66;66;84;66;66	ENSP00000262100:P66H;ENSP00000262101:P66H;ENSP00000405453:P84H;ENSP00000347430:P66H;ENSP00000371428:P66H	ENSP00000262101:P66H	P	-	2	0	MSR1	16077087	0.581000	0.26741	0.134000	0.22075	0.806000	0.45545	2.237000	0.43061	2.658000	0.90341	0.650000	0.86243	CCT		0.413	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			25	61	1	0	4.26978e-12	1	4.71339e-12	25	61				
SH3BP4	23677	broad.mit.edu	37	2	235951774	235951774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:235951774C>A	ENST00000409212.1	+	4	2868	c.2361C>A	c.(2359-2361)tgC>tgA	p.C787*	SH3BP4_ENST00000392011.2_Nonsense_Mutation_p.C787*|SH3BP4_ENST00000344528.4_Nonsense_Mutation_p.C787*			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	787					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.C787C(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCTTTTTCTGCCGGGCAGAGC	0.582																																						ENST00000409212.1																			1	Substitution - coding silent(1)	p.C787C(1)	endometrium(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(2359-2361)tgC>tgA		SH3-domain binding protein 4							36.0	37.0	37.0					2																	235951774		2203	4300	6503	SO:0001587	stop_gained	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235951774C>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2361C>A	2.37:g.235951774C>A	ENSP00000386862:p.Cys787*					SH3BP4_ENST00000392011.2_Nonsense_Mutation_p.C787*|SH3BP4_ENST00000344528.4_Nonsense_Mutation_p.C787*	p.C787*			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2868	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	787					O95082|Q309A3|Q53QD0|Q53TD1	Nonsense_Mutation	SNP	ENST00000409212.1	37	c.2361C>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	43	9.909633	0.99293	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528;ENST00000538289	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-32.4864	10.41	0.44287	0.0:0.9099:0.0:0.0901	.	.	.	.	X	787;787;787;25	.	ENSP00000340237:C787X	C	+	3	2	SH3BP4	235616513	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	1.596000	0.36718	2.284000	0.76573	0.655000	0.94253	TGC		0.582	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			13	15	1	0	1.67942e-08	1	1.80697e-08	13	15				
AMPH	273	broad.mit.edu	37	7	38431514	38431514	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:38431514G>A	ENST00000356264.2	-	19	1928	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000325590.5_Silent_p.D529D|AMPH_ENST00000428293.2_Silent_p.D529D	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	571					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GAGGAGCCGCGTCCTCGGTGG	0.607																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1711-1713)gaC>gaT		amphiphysin							62.0	59.0	60.0					7																	38431514		2203	4300	6503	SO:0001819	synonymous_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38431514G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1713C>T	7.37:g.38431514G>A						AMPH_ENST00000428293.2_Silent_p.D529D|AMPH_ENST00000325590.5_Silent_p.D529D	p.D571D	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			19	1928	-			571					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	c.1713C>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	5.102	0.204474	0.09704	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.75	-9.39	0.00619	.	.	.	.	.	T	0.27933	0.0688	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31943	-0.9925	4	.	.	.	-4.5548	10.8887	0.46984	0.4664:0.3399:0.1937:0.0	.	.	.	.	C	454	.	.	R	-	1	0	AMPH	38398039	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.456000	0.06754	-2.020000	0.00940	-0.952000	0.02654	CGC		0.607	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		19	96	0	0	0	1	0	19	96				
STPG2	285555	broad.mit.edu	37	4	98480263	98480263	+	Silent	SNP	G	G	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:98480263G>T	ENST00000295268.3	-	11	1415	c.1326C>A	c.(1324-1326)tcC>tcA	p.S442S	RP11-681L8.1_ENST00000518105.1_RNA|STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	442																	TTTTCTCCTGGGATATCTGTT	0.279																																						ENST00000295268.3																			0											c.(1324-1326)tcC>tcA		sperm-tail PG-rich repeat containing 2							70.0	79.0	76.0					4																	98480263		2201	4293	6494	SO:0001819	synonymous_variant	285555							g.chr4:98480263G>T	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1326C>A	4.37:g.98480263G>T						STPG2_ENST00000506482.1_Intron|RP11-681L8.1_ENST00000518105.1_RNA	p.S442S	NM_174952.2	NP_777612.1					11	1415	-									Silent	SNP	ENST00000295268.3	37	c.1326C>A	CCDS3645.1																																																																																				0.279	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		64	75	1	0	3.8688e-20	1	4.38464e-20	64	75				
HACL1	26061	broad.mit.edu	37	3	15616518	15616518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:15616518G>A	ENST00000321169.5	-	10	1242	c.875C>T	c.(874-876)cCt>cTt	p.P292L	HACL1_ENST00000456194.2_Missense_Mutation_p.P265L|HACL1_ENST00000457447.2_Missense_Mutation_p.P266L|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000451445.2_Missense_Mutation_p.P210L	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	292					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						ATATCTTGGAGGCAGTCCAAA	0.343																																						ENST00000321169.5																			0				NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						c.(874-876)cCt>cTt		2-hydroxyacyl-CoA lyase 1							80.0	81.0	81.0					3																	15616518		2203	4300	6503	SO:0001583	missense	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15616518G>A	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.875C>T	3.37:g.15616518G>A	ENSP00000323811:p.Pro292Leu					HACL1_ENST00000435217.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.P266L|HACL1_ENST00000456194.2_Missense_Mutation_p.P265L|HACL1_ENST00000451445.2_Missense_Mutation_p.P210L	p.P292L	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN			10	1242	-			292					B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	37	c.875C>T	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	G	34	5.345608	0.95807	.	.	ENSG00000131373	ENST00000321169;ENST00000451445;ENST00000456194;ENST00000457447	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.34	5.34	0.76211	Thiamine pyrophosphate enzyme, central domain (1);	0.048308	0.85682	D	0.000000	T	0.57169	0.2035	L	0.38649	1.16	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;0.992;0.996	D;P;D;D	0.91635	0.999;0.898;0.943;0.972	T	0.55140	-0.8187	10	0.46703	T	0.11	.	19.407	0.94651	0.0:0.0:1.0:0.0	.	210;266;265;292	B4DXI5;E9PEN4;B4DWI1;Q9UJ83	.;.;.;HACL1_HUMAN	L	292;210;265;266	ENSP00000323811:P292L;ENSP00000403656:P210L;ENSP00000390699:P265L;ENSP00000404883:P266L	ENSP00000323811:P292L	P	-	2	0	HACL1	15591522	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.879000	0.87236	2.649000	0.89929	0.557000	0.71058	CCT		0.343	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260		18	18	0	0	0	1	0	18	18				
DCUN1D2	55208	broad.mit.edu	37	13	114112358	114112358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:114112358G>A	ENST00000478244.1	-	7	1048	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	DCUN1D2_ENST00000332592.3_Missense_Mutation_p.R123C	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	256										breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			AAAAGGCTGCGTTTTCCACCT	0.443											OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000332592.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7						c.(367-369)Cgc>Tgc		DCN1, defective in cullin neddylation 1, domain containing 2							233.0	239.0	237.0					13																	114112358		2203	4300	6503	SO:0001583	missense	55208							g.chr13:114112358G>A	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.766C>T	13.37:g.114112358G>A	ENSP00000417706:p.Arg256Cys		OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1455	DCUN1D2_ENST00000478244.1_Missense_Mutation_p.R256C	p.R123C			Q6PH85	DCNL2_HUMAN	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)		5	401	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	256			DCUN1.		Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	ENST00000478244.1	37	c.367C>T	CCDS32013.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350226	0.41599	.	.	ENSG00000150401	ENST00000332592;ENST00000478244	.	.	.	4.79	2.07	0.26955	.	0.053400	0.85682	D	0.000000	T	0.16769	0.0403	N	0.08118	0	0.29081	N	0.882718	D	0.56287	0.975	P	0.46339	0.513	T	0.09250	-1.0683	9	0.59425	D	0.04	.	6.2333	0.20747	0.0737:0.1391:0.6531:0.1341	.	256	Q6PH85	DCNL2_HUMAN	C	123;256	.	ENSP00000330629:R123C	R	-	1	0	DCUN1D2	113160359	1.000000	0.71417	0.000000	0.03702	0.011000	0.07611	7.020000	0.76419	0.098000	0.17522	-0.181000	0.13052	CGC		0.443	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4	NM_018185		28	446	0	0	0	1	0	28	446				
NMI	9111	broad.mit.edu	37	2	152135384	152135384	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:152135384T>C	ENST00000243346.5	-	4	768	c.298A>G	c.(298-300)Ata>Gta	p.I100V		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	100					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CCTTTTTGTATCTCATAAGGA	0.338																																						ENST00000243346.5																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(298-300)Ata>Gta		N-myc (and STAT) interactor							105.0	101.0	102.0					2																	152135384		2203	4299	6502	SO:0001583	missense	9111				inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity	g.chr2:152135384T>C	U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.298A>G	2.37:g.152135384T>C	ENSP00000243346:p.Ile100Val						p.I100V	NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0571)	4	768	-			100					B5BU69|Q53TI8|Q9BVE5	Missense_Mutation	SNP	ENST00000243346.5	37	c.298A>G	CCDS2192.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342741	0.24339	.	.	ENSG00000123609	ENST00000243346	T	0.05717	3.4	5.4	2.12	0.27331	Nucleotide-binding, alpha-beta plait (1);Interferon induced 35kDa, N-terminal (1);	0.239136	0.35772	N	0.002995	T	0.02533	0.0077	N	0.03608	-0.345	0.21220	N	0.999759	B;B	0.09022	0.0;0.002	B;B	0.08055	0.001;0.003	T	0.40156	-0.9578	10	0.52906	T	0.07	-2.1945	4.5288	0.11995	0.0938:0.1519:0.5971:0.1573	.	100;100	B4DQD4;Q13287	.;NMI_HUMAN	V	100	ENSP00000243346:I100V	ENSP00000243346:I100V	I	-	1	0	NMI	151843630	0.992000	0.36948	0.998000	0.56505	0.342000	0.28953	0.106000	0.15354	0.641000	0.30601	-0.202000	0.12741	ATA		0.338	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2	NM_004688		19	51	0	0	0	1	0	19	51				
FUT9	10690	broad.mit.edu	37	6	96651080	96651080	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:96651080A>G	ENST00000302103.5	+	3	375	c.49A>G	c.(49-51)Att>Gtt	p.I17V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	17					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATTGTCTGCATTATCCTGGG	0.423																																					Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(49-51)Att>Gtt		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)							91.0	93.0	92.0					6																	96651080		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651080A>G	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.49A>G	6.37:g.96651080A>G	ENSP00000302599:p.Ile17Val						p.I17V	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	375	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	17					Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.49A>G	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.011847	0.00422	.	.	ENSG00000172461	ENST00000302103	T	0.20738	2.05	5.58	-1.48	0.08745	.	0.407076	0.29314	N	0.012505	T	0.01940	0.0061	N	0.14661	0.345	0.27963	N	0.936695	B	0.18013	0.025	B	0.13407	0.009	T	0.41875	-0.9484	10	0.08381	T	0.77	-3.4396	3.6231	0.08103	0.41:0.0:0.2047:0.3853	.	17	Q9Y231	FUT9_HUMAN	V	17	ENSP00000302599:I17V	ENSP00000302599:I17V	I	+	1	0	FUT9	96757801	0.311000	0.24536	0.752000	0.31206	0.283000	0.27025	-0.082000	0.11304	-0.396000	0.07703	-1.093000	0.02169	ATT		0.423	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		69	119	0	0	0	1	0	69	119				
ANGPTL4	51129	broad.mit.edu	37	19	8435950	8435950	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:8435950G>C	ENST00000301455.2	+	5	843	c.672G>C	c.(670-672)tgG>tgC	p.W224C	ANGPTL4_ENST00000393962.2_Missense_Mutation_p.W186C|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.W57C	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	224	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						ATGGAGGCTGGACAGTAATTC	0.587																																						ENST00000301455.2																			0				large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						c.(670-672)tgG>tgC		angiopoietin-like 4							39.0	39.0	39.0					19																	8435950		2203	4300	6503	SO:0001583	missense	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8435950G>C	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.672G>C	19.37:g.8435950G>C	ENSP00000301455:p.Trp224Cys					ANGPTL4_ENST00000541807.1_Missense_Mutation_p.W57C|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.W186C	p.W224C	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN			5	843	+			224			Fibrinogen C-terminal.		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	c.672G>C	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737061	0.69304	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.53640	0.61;0.61;0.61	5.08	5.08	0.68730	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.80076	0.4557	H	0.98849	4.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86509	0.1808	10	0.72032	D	0.01	.	11.663	0.51358	0.0865:0.0:0.9135:0.0	.	186;224	A8MY84;Q9BY76	.;ANGL4_HUMAN	C	224;186;57	ENSP00000301455:W224C;ENSP00000377534:W186C;ENSP00000439833:W57C	ENSP00000301455:W224C	W	+	3	0	ANGPTL4	8341950	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.238000	0.95380	2.362000	0.80069	0.650000	0.86243	TGG		0.587	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		10	16	0	0	0	1	0	10	16				
LINC00969	440993	broad.mit.edu	37	3	195395399	195395399	+	lincRNA	SNP	G	G	A	rs62287990	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:195395399G>A	ENST00000445430.1	+	0	806									long intergenic non-protein coding RNA 969																		GGCTACGGGCGCACCTACTTG	0.607																																						ENST00000445430.1																			0																																																			440993							g.chr3:195395399G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395399G>A														0	806	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.607	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			8	95	0	0	0	1	0	8	95				
KCTD4	386618	broad.mit.edu	37	13	45768678	45768678	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:45768678C>G	ENST00000379108.1	-	1	174	c.25G>C	c.(25-27)Gaa>Caa	p.E9Q	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000405872.1_Missense_Mutation_p.E9Q			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	9					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TTTTCTTTTTCTCTTCTGTTT	0.388																																						ENST00000405872.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						c.(25-27)Gaa>Caa		potassium channel tetramerization domain containing 4							193.0	182.0	185.0					13																	45768678		2203	4300	6503	SO:0001583	missense	386618					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr13:45768678C>G	BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 4"""				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.25G>C	13.37:g.45768678C>G	ENSP00000368402:p.Glu9Gln					GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000379108.1_Missense_Mutation_p.E9Q	p.E9Q	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)	2	428	-		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	9					Q5W0P9	Missense_Mutation	SNP	ENST00000379108.1	37	c.25G>C	CCDS9396.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081901	0.36758	.	.	ENSG00000180332	ENST00000379108;ENST00000405872	T;T	0.56611	0.45;0.45	5.5	5.5	0.81552	.	0.051848	0.85682	D	0.000000	T	0.40015	0.1100	N	0.14661	0.345	0.46609	D	0.999121	B	0.22003	0.063	B	0.11329	0.006	T	0.23868	-1.0176	10	0.56958	D	0.05	.	18.7503	0.91812	0.0:1.0:0.0:0.0	.	9	Q8WVF5	KCTD4_HUMAN	Q	9	ENSP00000368402:E9Q;ENSP00000385144:E9Q	ENSP00000368402:E9Q	E	-	1	0	KCTD4	44666678	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.205000	0.77881	2.749000	0.94314	0.585000	0.79938	GAA		0.388	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044757.1			93	160	0	0	0	1	0	93	160				
STX1A	6804	broad.mit.edu	37	7	73118115	73118115	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:73118115C>G	ENST00000222812.3	-	7	536	c.510G>C	c.(508-510)gaG>gaC	p.E170D	STX1A_ENST00000395154.3_Missense_Mutation_p.E170D|STX1A_ENST00000395156.3_Missense_Mutation_p.E170D|STX1A_ENST00000484736.1_5'Flank|STX1A_ENST00000395155.3_Missense_Mutation_p.E170D|WBSCR22_ENST00000423166.2_3'UTR	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	170					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGTTCCCACTCTCCAGCATGT	0.637																																						ENST00000222812.3																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(508-510)gaG>gaC		syntaxin 1A (brain)							123.0	100.0	108.0					7																	73118115		2203	4300	6503	SO:0001583	missense	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73118115C>G		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.510G>C	7.37:g.73118115C>G	ENSP00000222812:p.Glu170Asp					STX1A_ENST00000395155.3_Missense_Mutation_p.E170D|STX1A_ENST00000395156.3_Missense_Mutation_p.E170D|STX1A_ENST00000395154.3_Missense_Mutation_p.E170D|WBSCR22_ENST00000423166.2_3'UTR	p.E170D	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN			7	536	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	170					O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	ENST00000222812.3	37	c.510G>C	CCDS34655.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697692	0.68386	.	.	ENSG00000106089	ENST00000428377;ENST00000222812;ENST00000395156;ENST00000395154;ENST00000395155	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	4.14	4.14	0.48551	t-SNARE (1);	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	L	0.58669	1.825	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.003;0.004;0.001	T	0.51537	-0.8693	10	0.31617	T	0.26	-32.7616	13.9387	0.64041	0.0:1.0:0.0:0.0	.	170;170;170	Q7Z5K3;Q16623-3;Q16623	.;.;STX1A_HUMAN	D	79;170;170;170;170	ENSP00000222812:E170D;ENSP00000378585:E170D;ENSP00000378583:E170D;ENSP00000378584:E170D	ENSP00000222812:E170D	E	-	3	2	STX1A	72756051	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	1.982000	0.40638	2.155000	0.67459	0.305000	0.20034	GAG		0.637	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		50	84	0	0	0	1	0	50	84				
PAX7	5081	broad.mit.edu	37	1	18962744	18962744	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:18962744G>A	ENST00000375375.3	+	4	1063	c.465G>A	c.(463-465)tcG>tcA	p.S155S	PAX7_ENST00000400661.3_Silent_p.S153S|PAX7_ENST00000420770.2_Silent_p.S155S	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	155	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.|Sufficient to mediate interaction with PAXBP1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	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)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TAGTGAGTTCGATTAGCCGCG	0.522			T	FOXO1A	alveolar rhabdomyosarcoma																																	ENST00000420770.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31						c.(463-465)tcG>tcA		paired box 7							143.0	141.0	142.0					1																	18962744		2203	4300	6503	SO:0001819	synonymous_variant	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:18962744G>A	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.465G>A	1.37:g.18962744G>A						PAX7_ENST00000375375.3_Silent_p.S155S|PAX7_ENST00000400661.3_Silent_p.S153S	p.S155S	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	4	548	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	155			Paired.		E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	ENST00000375375.3	37	c.465G>A	CCDS186.1																																																																																				0.522	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		47	100	0	0	0	1	0	47	100				
CXCL6	6372	broad.mit.edu	37	4	74702557	74702557	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:74702557G>A	ENST00000226317.5	+	1	344	c.90G>A	c.(88-90)ccG>ccA	p.P30P	CXCL6_ENST00000515050.1_Silent_p.P30P	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	30					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGCTGACGCCGCCGGGGCCCC	0.716																																						ENST00000226317.5																			0				large_intestine(1)|lung(7)	8						c.(88-90)ccG>ccA		chemokine (C-X-C motif) ligand 6							14.0	18.0	17.0					4																	74702557		2187	4279	6466	SO:0001819	synonymous_variant	6372				cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr4:74702557G>A	U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"""Endogenous ligands"""	10643	protein-coding gene	gene with protein product	"""granulocyte chemotactic protein 2"""	138965	"""small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)"", ""chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"""	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.90G>A	4.37:g.74702557G>A						CXCL6_ENST00000515050.1_Silent_p.P30P	p.P30P	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		1	344	+	Breast(15;0.00102)		30					B2R4X3|Q4W5D4	Silent	SNP	ENST00000226317.5	37	c.90G>A	CCDS3560.1																																																																																				0.716	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252283.2	NM_002993		3	56	0	0	0	1	0	3	56				
CEP152	22995	broad.mit.edu	37	15	49059304	49059304	+	Silent	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:49059304A>G	ENST00000380950.2	-	17	2420	c.2233T>C	c.(2233-2235)Ttg>Ctg	p.L745L	CEP152_ENST00000325747.5_Silent_p.L652L|CEP152_ENST00000559398.1_5'Flank|CEP152_ENST00000399334.3_Silent_p.L745L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	745					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGAGAGTCAATTCTAGATTA	0.423																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(2233-2235)Ttg>Ctg		centrosomal protein 152kDa							221.0	213.0	216.0					15																	49059304		1937	4131	6068	SO:0001819	synonymous_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49059304A>G	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2233T>C	15.37:g.49059304A>G						CEP152_ENST00000399334.3_Silent_p.L745L|CEP152_ENST00000325747.5_Silent_p.L652L	p.L745L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	17	2420	-		all_lung(180;0.0428)	745					E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	c.2233T>C	CCDS58361.1																																																																																				0.423	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		178	103	0	0	0	1	0	178	103				
BTBD10	84280	broad.mit.edu	37	11	13438772	13438772	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:13438772C>T	ENST00000278174.5	-	5	865	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	BTBD10_ENST00000530907.1_Missense_Mutation_p.R215Q|BTBD10_ENST00000528120.1_Missense_Mutation_p.R159Q|BTBD10_ENST00000532261.1_5'Flank	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	207	BTB.|Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CTCATTGGGTCGTGTAAAGTT	0.378																																						ENST00000278174.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(619-621)cGa>cAa		BTB (POZ) domain containing 10							233.0	212.0	219.0					11																	13438772		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13438772C>T	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.620G>A	11.37:g.13438772C>T	ENSP00000278174:p.Arg207Gln					BTBD10_ENST00000530907.1_Missense_Mutation_p.R215Q|BTBD10_ENST00000528120.1_Missense_Mutation_p.R159Q	p.R207Q	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	5	865	-			207			BTB.		B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.620G>A	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	C	36	5.803534	0.96960	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	T;T;T	0.77750	-1.12;-1.12;-1.12	5.88	5.88	0.94601	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.76494	0.991;0.999;0.998;0.998	B;D;P;P	0.64042	0.446;0.921;0.809;0.809	T	0.78193	-0.2299	10	0.26408	T	0.33	-45.3306	19.8331	0.96643	0.0:1.0:0.0:0.0	.	176;215;207;207	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	Q	207;215;159	ENSP00000278174:R207Q;ENSP00000431186:R215Q;ENSP00000435257:R159Q	ENSP00000278174:R207Q	R	-	2	0	BTBD10	13395348	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.779000	0.95612	0.650000	0.86243	CGA		0.378	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		81	155	0	0	0	1	0	81	155				
SZT2	23334	broad.mit.edu	37	1	43885835	43885835	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:43885835C>T	ENST00000562955.1	+	9	1102	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C	SZT2_ENST00000372442.1_5'Flank	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	368					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCTCAGCACCGCCTATTTAA	0.562																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(1102-1104)Cgc>Tgc		seizure threshold 2 homolog (mouse)							81.0	71.0	74.0					1																	43885835		876	1991	2867	SO:0001583	missense	23334					peroxisome		g.chr1:43885835C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.1102C>T	1.37:g.43885835C>T	ENSP00000457168:p.Arg368Cys						p.R368C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			9	1102	+			368					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.1102C>T	CCDS30694.2																																																																																				0.562	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		4	72	0	0	0	1	0	4	72				
FRA10AC1	118924	broad.mit.edu	37	10	95436422	95436422	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:95436422C>T	ENST00000359204.4	-	12	1011	c.814G>A	c.(814-816)Gat>Aat	p.D272N	FRA10AC1_ENST00000460752.1_5'Flank|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.D272N|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.D272N|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.D272N	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	272						nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						AGTAGAGAATCTTCAGATTTC	0.294																																						ENST00000359204.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						c.(814-816)Gat>Aat		fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1							33.0	36.0	35.0					10																	95436422		2193	4260	6453	SO:0001583	missense	118924					nucleus	protein binding	g.chr10:95436422C>T	AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.814G>A	10.37:g.95436422C>T	ENSP00000360488:p.Asp272Asn					FRA10AC1_ENST00000394100.2_Missense_Mutation_p.D272N|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.D272N|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.D272N	p.D272N	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN			12	1011	-			272					C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	ENST00000359204.4	37	c.814G>A	CCDS7430.1	.	.	.	.	.	.	.	.	.	.	C	8.435	0.849505	0.17034	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.24723	1.88;1.85;1.84;1.84	5.0	3.03	0.35002	.	0.643732	0.17203	N	0.183058	T	0.13030	0.0316	N	0.12746	0.255	0.43803	D	0.996354	B	0.02656	0.0	B	0.01281	0.0	T	0.09662	-1.0664	10	0.27082	T	0.32	-3.2721	7.9684	0.30113	0.0:0.837:0.0:0.163	.	272	Q70Z53	F10C1_HUMAN	N	272	ENSP00000360488:D272N;ENSP00000438405:D272N;ENSP00000360484:D272N;ENSP00000377660:D272N	ENSP00000360488:D272N	D	-	1	0	FRA10AC1	95426412	0.986000	0.35501	0.891000	0.34965	0.533000	0.34776	1.366000	0.34193	0.504000	0.28082	0.563000	0.77884	GAT		0.294	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246		14	21	0	0	0	1	0	14	21				
COL22A1	169044	broad.mit.edu	37	8	139606419	139606419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:139606419G>A	ENST00000303045.6	-	63	4902	c.4456C>T	c.(4456-4458)Cag>Tag	p.Q1486*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.Q1466*|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1486	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGGCATCTGGGCCAGGAGG	0.582										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4456-4458)Cag>Tag		collagen, type XXII, alpha 1							36.0	40.0	39.0					8																	139606419		2203	4300	6503	SO:0001587	stop_gained	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139606419G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4456C>T	8.37:g.139606419G>A	ENSP00000303153:p.Gln1486*	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Nonsense_Mutation_p.Q1466*|COL22A1_ENST00000341807.4_5'UTR	p.Q1486*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		63	4902	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1486			Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	37	c.4456C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	48	14.052909	0.99777	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	5.92	5.92	0.95590	.	0.000000	0.47852	D	0.000218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	19.3538	0.94402	0.0:0.0:1.0:0.0	.	.	.	.	X	1486;1466;1179	.	ENSP00000303153:Q1486X	Q	-	1	0	COL22A1	139675601	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.430000	0.97488	2.820000	0.97059	0.650000	0.86243	CAG		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		101	78	0	0	0	1	0	101	78				
TPTE2P2	644623	broad.mit.edu	37	13	52865661	52865661	+	RNA	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:52865661C>A	ENST00000451298.1	-	0	31																											AAGGATGACACAATTGAATGA	0.289																																						ENST00000451298.1																			0																																																			644623							g.chr13:52865661C>A																													13.37:g.52865661C>A						RP11-64P12.8_ENST00000606031.1_RNA								0	31	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.289	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			3	31	1	0	0.004672	1	0.00475593	3	31				
MTMR2	8898	broad.mit.edu	37	11	95591793	95591793	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:95591793T>C	ENST00000346299.5	-	6	812	c.472A>G	c.(472-474)Att>Gtt	p.I158V	MTMR2_ENST00000409459.1_Missense_Mutation_p.I86V|MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000393223.3_Missense_Mutation_p.I86V|MTMR2_ENST00000352297.7_Missense_Mutation_p.I86V	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	158					cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAATTCCTAATATCCTAGAAA	0.313																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(256-258)Att>Gtt		myotubularin related protein 2							78.0	83.0	82.0					11																	95591793		2201	4296	6497	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95591793T>C	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.472A>G	11.37:g.95591793T>C	ENSP00000345752:p.Ile158Val					MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000346299.5_Missense_Mutation_p.I158V|MTMR2_ENST00000409459.1_Missense_Mutation_p.I86V|MTMR2_ENST00000352297.7_Missense_Mutation_p.I86V	p.I86V	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			8	918	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	158			GRAM.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.256A>G	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.526227	0.44969	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.39	5.39	0.77823	.	0.084540	0.85682	D	0.000000	T	0.77498	0.4139	L	0.46157	1.445	0.48288	D	0.999628	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.74247	-0.3727	10	0.56958	D	0.05	.	10.8618	0.46831	0.0:0.0738:0.0:0.9262	.	158;158	A8K5G2;Q13614	.;MTMR2_HUMAN	V	158;86;86;86;86;141	ENSP00000345752:I158V;ENSP00000376915:I86V;ENSP00000386882:I86V;ENSP00000343737:I86V;ENSP00000396020:I86V	ENSP00000345752:I158V	I	-	1	0	MTMR2	95231441	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	2.962000	0.49176	2.147000	0.66899	0.533000	0.62120	ATT		0.313	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		61	106	0	0	0	1	0	61	106				
ZAP70	7535	broad.mit.edu	37	2	98355850	98355850	+	Silent	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:98355850C>A	ENST00000264972.5	+	14	1964	c.1749C>A	c.(1747-1749)cgC>cgA	p.R583R	ZAP70_ENST00000451498.2_Silent_p.R276R|ZAP70_ENST00000442208.1_Silent_p.R457R|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	583	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGGAGGATCGCCCCGACTTCC	0.657																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1747-1749)cgC>cgA		zeta-chain (TCR) associated protein kinase 70kDa							44.0	42.0	43.0					2																	98355850		2203	4300	6503	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98355850C>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1749C>A	2.37:g.98355850C>A						ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.R457R|ZAP70_ENST00000451498.2_Silent_p.R276R	p.R583R	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			14	1964	+			583			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.1749C>A	CCDS33254.1																																																																																				0.657	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			22	41	1	0	3.62473e-10	1	3.95003e-10	22	41				
MED12L	116931	broad.mit.edu	37	3	150903227	150903227	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:150903227G>A	ENST00000474524.1	+	11	1643	c.1605G>A	c.(1603-1605)agG>agA	p.R535R	MED12L_ENST00000422248.2_Silent_p.R535R|RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000309237.4_Silent_p.R535R|MED12L_ENST00000273432.4_Silent_p.R395R	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	535						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGAGAAGAGGCAAGCAGAAA	0.478																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1603-1605)agG>agA		mediator complex subunit 12-like							113.0	97.0	102.0					3																	150903227		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150903227G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1605G>A	3.37:g.150903227G>A						MED12L_ENST00000309237.4_Silent_p.R535R|MED12L_ENST00000273432.4_Silent_p.R395R|MED12L_ENST00000422248.2_Silent_p.R535R	p.R535R	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		11	1643	+			535					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.1605G>A	CCDS33876.1																																																																																				0.478	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		20	51	0	0	0	1	0	20	51				
CTNND2	1501	broad.mit.edu	37	5	11397249	11397249	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:11397249G>A	ENST00000304623.8	-	6	695	c.506C>T	c.(505-507)cCg>cTg	p.P169L	CTNND2_ENST00000359640.2_Missense_Mutation_p.P169L|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.P78L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	169					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGCTGGCCGGATACTGGAA	0.587																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(505-507)cCg>cTg		catenin (cadherin-associated protein), delta 2							79.0	80.0	80.0					5																	11397249		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11397249G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.506C>T	5.37:g.11397249G>A	ENSP00000307134:p.Pro169Leu					CTNND2_ENST00000511377.1_Missense_Mutation_p.P78L|CTNND2_ENST00000359640.2_Missense_Mutation_p.P169L|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_5'UTR	p.P169L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			6	695	-			169					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.506C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054919	0.75960	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000513598;ENST00000508761	T;T;T	0.76060	-0.93;-0.99;-0.9	5.91	5.91	0.95273	.	0.178818	0.37178	N	0.002205	T	0.65417	0.2689	L	0.34521	1.04	0.80722	D	1	B	0.33748	0.423	B	0.23716	0.048	T	0.63256	-0.6678	10	0.38643	T	0.18	-11.2873	20.2983	0.98569	0.0:0.0:1.0:0.0	.	169	Q9UQB3	CTND2_HUMAN	L	169;169;78;78;155	ENSP00000307134:P169L;ENSP00000352661:P169L;ENSP00000426510:P78L	ENSP00000307134:P169L	P	-	2	0	CTNND2	11450249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.187000	0.94912	2.802000	0.96397	0.655000	0.94253	CCG		0.587	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		44	74	0	0	0	1	0	44	74				
TTN	7273	broad.mit.edu	37	2	179501212	179501212	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:179501212C>G	ENST00000591111.1	-	175	36543	c.36319G>C	c.(36319-36321)Gtt>Ctt	p.V12107L	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4808L|TTN_ENST00000460472.2_Missense_Mutation_p.V4683L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4875L|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V13748L|TTN_ENST00000342992.6_Missense_Mutation_p.V11180L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12107	Ig-like 80.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAAGTTGAACATCAATGATG	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(41242-41244)Gtt>Ctt		titin							97.0	92.0	93.0					2																	179501212		1852	4109	5961	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179501212C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36319G>C	2.37:g.179501212C>G	ENSP00000465570:p.Val12107Leu					TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12107L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4683L|TTN_ENST00000359218.5_Missense_Mutation_p.V4808L|TTN_ENST00000342992.6_Missense_Mutation_p.V11180L|TTN_ENST00000342175.6_Missense_Mutation_p.V4875L	p.V13748L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		225	41466	-			12107			Ig-like 93.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.41242G>C		.	.	.	.	.	.	.	.	.	.	C	12.43	1.934854	0.34189	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82453	0.5040	L	0.55743	1.74	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.83119	-0.0119	9	0.87932	D	0	.	19.9446	0.97177	0.0:1.0:0.0:0.0	.	4683;4808;4875;12107	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	11180;4683;4875;4808;4683	ENSP00000343764:V11180L;ENSP00000434586:V4683L;ENSP00000340554:V4875L;ENSP00000352154:V4808L	ENSP00000340554:V4875L	V	-	1	0	TTN	179209457	1.000000	0.71417	0.952000	0.39060	0.123000	0.20343	7.768000	0.85345	2.714000	0.92807	0.644000	0.83932	GTT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	161	0	0	0	1	0	30	161				
FOXS1	2307	broad.mit.edu	37	20	30432595	30432595	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr20:30432595G>A	ENST00000375978.3	-	1	825	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	251					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GCCTGCAGCCGACACTGGTAG	0.617																																						ENST00000375978.3																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(751-753)Cgg>Tgg		forkhead box S1							25.0	27.0	26.0					20																	30432595		2203	4300	6503	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432595G>A	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.751C>T	20.37:g.30432595G>A	ENSP00000365145:p.Arg251Trp						p.R251W	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	825	-			251					Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.751C>T	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059308	0.55325	.	.	ENSG00000179772	ENST00000375978	D	0.94092	-3.35	4.54	4.54	0.55810	.	0.000000	0.44285	D	0.000468	D	0.93311	0.7868	L	0.32530	0.975	0.38527	D	0.948869	D	0.89917	1.0	D	0.64687	0.928	D	0.94043	0.7311	10	0.72032	D	0.01	.	11.2697	0.49131	0.0:0.0:0.8173:0.1827	.	251	O43638	FOXS1_HUMAN	W	251	ENSP00000365145:R251W	ENSP00000365145:R251W	R	-	1	2	FOXS1	29896256	0.954000	0.32549	1.000000	0.80357	0.873000	0.50193	1.946000	0.40283	2.350000	0.79820	0.462000	0.41574	CGG		0.617	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		13	47	0	0	0	1	0	13	47				
OR3A1	4994	broad.mit.edu	37	17	3195526	3195526	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:3195526C>T	ENST00000323404.1	-	1	350	c.351G>A	c.(349-351)ctG>ctA	p.L117L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	117					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGGCGGTCAGCAGGAAGCAGT	0.597																																					GBM(20;287 516 18743 28660 36594)	ENST00000323404.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(349-351)ctG>ctA		olfactory receptor, family 3, subfamily A, member 1							88.0	77.0	81.0					17																	3195526		2203	4300	6503	SO:0001819	synonymous_variant	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195526C>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.351G>A	17.37:g.3195526C>T						RP11-64J4.2_ENST00000573491.1_RNA	p.L117L	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN			1	350	-			117					Q4VB06|Q6IFM4	Silent	SNP	ENST00000323404.1	37	c.351G>A	CCDS11023.1																																																																																				0.597	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			40	92	0	0	0	1	0	40	92				
PIK3R4	30849	broad.mit.edu	37	3	130454754	130454754	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:130454754G>C	ENST00000356763.3	-	3	1383	c.826C>G	c.(826-828)Caa>Gaa	p.Q276E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTTAGCACTTGTTCAGGGAAA	0.333																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(826-828)Caa>Gaa		phosphoinositide-3-kinase, regulatory subunit 4							120.0	129.0	126.0					3																	130454754		2203	4299	6502	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130454754G>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.826C>G	3.37:g.130454754G>C	ENSP00000349205:p.Gln276Glu						p.Q276E	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			3	1383	-			276			Protein kinase.		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.826C>G	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514402	0.44763	.	.	ENSG00000196455	ENST00000356763	T	0.64085	-0.08	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Armadillo-like helical (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054630	0.85682	D	0.000000	T	0.47544	0.1451	N	0.19112	0.55	0.49299	D	0.99977	B	0.19200	0.034	B	0.23018	0.043	T	0.46190	-0.9209	10	0.05351	T	0.99	-22.0925	20.1553	0.98111	0.0:0.0:1.0:0.0	.	276	Q99570	PI3R4_HUMAN	E	276	ENSP00000349205:Q276E	ENSP00000349205:Q276E	Q	-	1	0	PIK3R4	131937444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.695000	0.84257	2.838000	0.97847	0.591000	0.81541	CAA		0.333	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		44	182	0	0	0	1	0	44	182				
UTRN	7402	broad.mit.edu	37	6	144779962	144779962	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:144779962A>C	ENST00000367545.3	+	19	2341	c.2341A>C	c.(2341-2343)Aag>Cag	p.K781Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	781	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATCAGAATGGAAGAATGTATC	0.338																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(2341-2343)Aag>Cag		utrophin							61.0	67.0	65.0					6																	144779962		2202	4300	6502	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144779962A>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2341A>C	6.37:g.144779962A>C	ENSP00000356515:p.Lys781Gln						p.K781Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	19	2341	+		Ovarian(120;0.218)	781			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.2341A>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257769	0.39896	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.33865	1.39	5.53	5.53	0.82687	.	0.121611	0.36444	N	0.002597	T	0.17408	0.0418	L	0.32530	0.975	0.80722	D	1	P	0.52577	0.954	B	0.43809	0.432	T	0.02829	-1.1105	10	0.13853	T	0.58	.	15.9613	0.79933	1.0:0.0:0.0:0.0	.	781	P46939	UTRO_HUMAN	Q	781	ENSP00000356515:K781Q	ENSP00000356499:K781Q	K	+	1	0	UTRN	144821655	1.000000	0.71417	0.998000	0.56505	0.212000	0.24457	3.840000	0.55843	2.240000	0.73641	0.477000	0.44152	AAG		0.338	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			36	103	0	0	0	1	0	36	103				
ZNF679	168417	broad.mit.edu	37	7	63726517	63726517	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:63726517C>T	ENST00000421025.1	+	5	775	c.506C>T	c.(505-507)tCa>tTa	p.S169L	ZNF679_ENST00000255746.4_Missense_Mutation_p.S169L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GGCAAATTTTCAAATTCCAAT	0.313																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(505-507)tCa>tTa		zinc finger protein 679							88.0	75.0	79.0					7																	63726517		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63726517C>T	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.506C>T	7.37:g.63726517C>T	ENSP00000416809:p.Ser169Leu					ZNF679_ENST00000255746.4_Missense_Mutation_p.S169L	p.S169L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			5	775	+			169						Missense_Mutation	SNP	ENST00000421025.1	37	c.506C>T	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	C	7.073	0.568708	0.13560	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.30981	1.51;1.51	1.12	1.12	0.20585	Zinc finger, C2H2 (1);	.	.	.	.	T	0.28699	0.0711	M	0.70275	2.135	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.29731	-1.0002	9	0.48119	T	0.1	.	4.3653	0.11222	0.3859:0.6141:0.0:0.0	.	169	Q8IYX0	ZN679_HUMAN	L	169	ENSP00000416809:S169L;ENSP00000255746:S169L	ENSP00000255746:S169L	S	+	2	0	ZNF679	63363952	0.000000	0.05858	0.008000	0.14137	0.327000	0.28475	-0.323000	0.07997	0.540000	0.28808	0.194000	0.17425	TCA		0.313	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		14	25	0	0	0	1	0	14	25				
APOB	338	broad.mit.edu	37	2	21233522	21233522	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:21233522A>G	ENST00000233242.1	-	26	6345	c.6218T>C	c.(6217-6219)tTt>tCt	p.F2073S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2073	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCTCAAAAAATGGGAGGTT	0.358																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(6217-6219)tTt>tCt		apolipoprotein B	Atorvastatin(DB01076)						70.0	80.0	77.0					2																	21233522		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233522A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6218T>C	2.37:g.21233522A>G	ENSP00000233242:p.Phe2073Ser						p.F2073S	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	6345	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2073			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6218T>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.376748	0.42105	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01068	5.38	5.14	5.14	0.70334	.	0.000000	0.56097	D	0.000027	T	0.06690	0.0171	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.03673	-1.1014	10	0.87932	D	0	.	14.947	0.71039	1.0:0.0:0.0:0.0	.	2073	P04114	APOB_HUMAN	S	2073	ENSP00000233242:F2073S	ENSP00000233242:F2073S	F	-	2	0	APOB	21087027	1.000000	0.71417	0.906000	0.35671	0.522000	0.34438	9.281000	0.95811	1.924000	0.55735	0.459000	0.35465	TTT		0.358	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			59	102	0	0	0	1	0	59	102				
UBQLN3	50613	broad.mit.edu	37	11	5529987	5529987	+	Missense_Mutation	SNP	C	C	T	rs144033515		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:5529987C>T	ENST00000311659.4	-	2	949	c.802G>A	c.(802-804)Gca>Aca	p.A268T	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	268										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGACTGCGTTAAGCATT	0.517													c|||	1	0.000199681	0.0	0.0	5008	,	,		19924	0.001		0.0	False		,,,				2504	0.0				Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(802-804)Gca>Aca		ubiquilin 3			THR/ALA	0,4402		0,0,2201	122.0	106.0	112.0		802	5.6	1.0	11	dbSNP_134	112	3,8591	3.0+/-9.4	0,3,4294	yes	missense	UBQLN3	NM_017481.2	58	0,3,6495	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	268/656	5529987	3,12993	2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529987C>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.802G>A	11.37:g.5529987C>T	ENSP00000347997:p.Ala268Thr					HBG2_ENST00000380259.2_Intron	p.A268T	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	949	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	268					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.802G>A	CCDS7758.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	21.0	4.086352	0.76642	0.0	3.49E-4	ENSG00000175520	ENST00000311659	T	0.51817	0.69	5.63	5.63	0.86233	.	0.000000	0.45126	D	0.000389	T	0.54159	0.1841	M	0.88181	2.935	0.47094	D	0.999313	P	0.39060	0.657	B	0.30105	0.111	T	0.66396	-0.5934	10	0.87932	D	0	-11.0381	17.5369	0.87834	0.0:1.0:0.0:0.0	.	268	Q9H347	UBQL3_HUMAN	T	268	ENSP00000347997:A268T	ENSP00000347997:A268T	A	-	1	0	UBQLN3	5486563	1.000000	0.71417	0.983000	0.44433	0.971000	0.66376	7.322000	0.79097	2.804000	0.96469	0.586000	0.80456	GCA		0.517	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		70	136	0	0	0	1	0	70	136				
AKAP12	9590	broad.mit.edu	37	6	151672560	151672560	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:151672560T>C	ENST00000253332.1	+	3	3223	c.3034T>C	c.(3034-3036)Tcc>Ccc	p.S1012P	AKAP12_ENST00000402676.2_Missense_Mutation_p.S1012P|AKAP12_ENST00000354675.6_Missense_Mutation_p.S914P|AKAP12_ENST00000359755.5_Missense_Mutation_p.S907P			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1012					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTTAACCGACTCCCCAGACAC	0.577																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(3034-3036)Tcc>Ccc		A kinase (PRKA) anchor protein 12							63.0	58.0	59.0					6																	151672560		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672560T>C	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3034T>C	6.37:g.151672560T>C	ENSP00000253332:p.Ser1012Pro					AKAP12_ENST00000354675.6_Missense_Mutation_p.S914P|AKAP12_ENST00000253332.1_Missense_Mutation_p.S1012P|AKAP12_ENST00000359755.5_Missense_Mutation_p.S907P	p.S1012P	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3274	+		Ovarian(120;0.125)	1012					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.3034T>C	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305052	0.60305	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.16743	2.32;2.32;2.34;2.34	5.27	4.07	0.47477	.	0.182863	0.27151	N	0.020689	T	0.22666	0.0547	M	0.74881	2.28	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;P	0.67548	0.952;0.952;0.853	T	0.08534	-1.0717	10	0.42905	T	0.14	.	10.0914	0.42449	0.2825:0.0:0.0:0.7175	.	907;914;1012	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	P	1012;1012;914;907	ENSP00000384537:S1012P;ENSP00000253332:S1012P;ENSP00000346702:S914P;ENSP00000352794:S907P	ENSP00000253332:S1012P	S	+	1	0	AKAP12	151714253	0.993000	0.37304	0.205000	0.23548	0.966000	0.64601	3.848000	0.55903	0.810000	0.34279	0.379000	0.24179	TCC		0.577	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			3	77	0	0	0	1	0	3	77				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	23	0	0	0	1	0	3	23				
WDR12	55759	broad.mit.edu	37	2	203745631	203745631	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:203745631T>C	ENST00000261015.4	-	13	1973	c.1224A>G	c.(1222-1224)aaA>aaG	p.K408K		NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						AGGAATACAATTTATTGTCTG	0.323																																						ENST00000261015.3																			0				endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						c.(1222-1224)aaA>aaG		WD repeat domain 12							60.0	57.0	58.0					2																	203745631		2203	4298	6501	SO:0001819	synonymous_variant	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203745631T>C	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.1224A>G	2.37:g.203745631T>C							p.K408K	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN			13	1973	-			408			Sufficient for nucleolar localization.			Silent	SNP	ENST00000261015.4	37	c.1224A>G	CCDS2356.1																																																																																				0.323	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		28	23	0	0	0	1	0	28	23				
ABCA2	20	broad.mit.edu	37	9	139905642	139905642	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:139905642C>T	ENST00000371605.3	-	37	6063	c.5916G>A	c.(5914-5916)aaG>aaA	p.K1972K	ABCA2_ENST00000265662.5_Silent_p.K1973K|ABCA2_ENST00000341511.6_Silent_p.K1973K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1972					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTCACCAATCTTGGCGTAGT	0.607																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(5917-5919)aaG>aaA		ATP-binding cassette, sub-family A (ABC1), member 2							59.0	63.0	62.0					9																	139905642		1891	4107	5998	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139905642C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.5916G>A	9.37:g.139905642C>T						ABCA2_ENST00000371605.3_Silent_p.K1972K|ABCA2_ENST00000341511.6_Silent_p.K1973K	p.K1973K			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	38	6066	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1972					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.5919G>A																																																																																					0.607	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		34	119	0	0	0	1	0	34	119				
LCP1	3936	broad.mit.edu	37	13	46721156	46721156	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:46721156T>A	ENST00000398576.2	-	13	1449	c.1061A>T	c.(1060-1062)gAt>gTt	p.D354V	LCP1_ENST00000323076.2_Missense_Mutation_p.D354V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	354	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCGGACAACATCTGTGGCTGT	0.532			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1060-1062)gAt>gTt		lymphocyte cytosolic protein 1 (L-plastin)							78.0	73.0	74.0					13																	46721156		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46721156T>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1061A>T	13.37:g.46721156T>A	ENSP00000381581:p.Asp354Val					LCP1_ENST00000323076.2_Missense_Mutation_p.D354V	p.D354V			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	13	1449	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	354			Actin-binding 1.|CH 2.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1061A>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.504605	0.85176	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.97575	-4.44;-4.44	5.34	5.34	0.76211	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98789	0.9592	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99751	1.1018	10	0.87932	D	0	-25.7477	14.7972	0.69886	0.0:0.0:0.0:1.0	.	354	P13796	PLSL_HUMAN	V	354	ENSP00000315757:D354V;ENSP00000381581:D354V	ENSP00000315757:D354V	D	-	2	0	LCP1	45619157	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	7.997000	0.88414	2.135000	0.66039	0.528000	0.53228	GAT		0.532	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		25	59	0	0	0	1	0	25	59				
CST1	1469	broad.mit.edu	37	20	23728528	23728528	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr20:23728528C>T	ENST00000304749.2	-	3	421	c.351G>A	c.(349-351)ttG>ttA	p.L117L	CST1_ENST00000398402.1_Silent_p.L117L	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	117					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.L117L(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGAAAGAGCACAACTGTTTCT	0.527																																						ENST00000304749.2																			1	Substitution - coding silent(1)	p.L117L(1)	lung(1)	kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(349-351)ttG>ttA		cystatin SN							93.0	81.0	85.0					20																	23728528		2203	4300	6503	SO:0001819	synonymous_variant	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23728528C>T	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.351G>A	20.37:g.23728528C>T						CST1_ENST00000398402.1_Silent_p.L117L	p.L117L	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN			3	421	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		117					Q96LE6|Q9UCQ6	Silent	SNP	ENST00000304749.2	37	c.351G>A	CCDS13160.1																																																																																				0.527	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		5	146	0	0	0	1	0	5	146				
WDR76	79968	broad.mit.edu	37	15	44143363	44143363	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:44143363G>A	ENST00000263795.6	+	9	1181	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T	WDR76_ENST00000381246.2_Missense_Mutation_p.A307T	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	371										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CTTCTCACCCGCCAATCCGGC	0.458																																						ENST00000263795.6																			0				breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20						c.(1111-1113)Gcc>Acc		WD repeat domain 76							160.0	152.0	155.0					15																	44143363		2198	4298	6496	SO:0001583	missense	79968							g.chr15:44143363G>A	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1111G>A	15.37:g.44143363G>A	ENSP00000263795:p.Ala371Thr					WDR76_ENST00000381246.2_Missense_Mutation_p.A307T	p.A371T	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	9	1181	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	371					A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	c.1111G>A	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	G	8.725	0.915356	0.17907	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.59906	0.23;0.23	5.93	1.96	0.26148	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.366282	0.30068	N	0.010492	T	0.23926	0.0579	N	0.01874	-0.695	0.24408	N	0.994677	B	0.15719	0.014	B	0.19391	0.025	T	0.30357	-0.9981	10	0.05833	T	0.94	-20.812	9.0549	0.36399	0.3142:0.0:0.6858:0.0	.	371	Q9H967	WDR76_HUMAN	T	371;307	ENSP00000263795:A371T;ENSP00000370645:A307T	ENSP00000263795:A371T	A	+	1	0	WDR76	41930655	0.000000	0.05858	0.979000	0.43373	0.990000	0.78478	0.120000	0.15647	0.407000	0.25591	0.655000	0.94253	GCC		0.458	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		9	193	0	0	0	1	0	9	193				
SMR3A	26952	broad.mit.edu	37	4	71227862	71227862	+	Silent	SNP	T	T	G	rs368833417		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:71227862T>G	ENST00000226460.4	+	2	126	c.30T>G	c.(28-30)ctT>ctG	p.L10L		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	10						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCTTGGGCCTTTGGGCTCTTG	0.338																																						ENST00000226460.4																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15						c.(28-30)ctT>ctG		submaxillary gland androgen regulated protein 3A							184.0	167.0	173.0					4																	71227862		2203	4297	6500	SO:0001819	synonymous_variant	26952					extracellular region		g.chr4:71227862T>G	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.30T>G	4.37:g.71227862T>G							p.L10L	NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN			2	126	+		all_hematologic(202;0.196)	10						Silent	SNP	ENST00000226460.4	37	c.30T>G	CCDS34000.1																																																																																				0.338	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		60	187	0	0	0	1	0	60	187				
CENPF	1063	broad.mit.edu	37	1	214816433	214816433	+	Silent	SNP	C	C	A	rs200241672		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:214816433C>A	ENST00000366955.3	+	12	4920	c.4752C>A	c.(4750-4752)ctC>ctA	p.L1584L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1680	2 X 96 AA approximate tandem repeats.		Missing. {ECO:0000269|PubMed:7651420}.		cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTCAAGAGCTCGAGCAGTTAT	0.443																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(4750-4752)ctC>ctA		centromere protein F, 350/400kDa							53.0	56.0	55.0					1																	214816433		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214816433C>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4752C>A	1.37:g.214816433C>A							p.L1584L	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	4920	+			1680		Missing.	2 X 96 AA approximate tandem repeats.		Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.4752C>A	CCDS31023.1																																																																																				0.443	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		3	95	1	0	1	1	1	3	95				
ATG13	9776	broad.mit.edu	37	11	46681003	46681003	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:46681003A>G	ENST00000434074.1	+	10	1446	c.757A>G	c.(757-759)Acc>Gcc	p.T253A	ATG13_ENST00000529655.1_Missense_Mutation_p.T253A|ATG13_ENST00000526508.1_Missense_Mutation_p.T253A|ATG13_ENST00000359513.4_Missense_Mutation_p.T253A|ATG13_ENST00000530500.1_Missense_Mutation_p.T174A|ATG13_ENST00000312040.4_Missense_Mutation_p.T253A|ATG13_ENST00000524625.1_Missense_Mutation_p.T253A|ATG13_ENST00000528494.1_Missense_Mutation_p.T253A|ATG13_ENST00000451945.1_Missense_Mutation_p.T253A	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	253					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AGAAGTGTGTACCACCTCTTT	0.433																																						ENST00000434074.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.(757-759)Acc>Gcc		autophagy related 13							102.0	92.0	96.0					11																	46681003		2201	4299	6500	SO:0001583	missense	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46681003A>G	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.757A>G	11.37:g.46681003A>G	ENSP00000400642:p.Thr253Ala					ATG13_ENST00000530500.1_Missense_Mutation_p.T174A|ATG13_ENST00000529655.1_Missense_Mutation_p.T253A|ATG13_ENST00000312040.4_Missense_Mutation_p.T253A|ATG13_ENST00000528494.1_Missense_Mutation_p.T253A|ATG13_ENST00000359513.4_Missense_Mutation_p.T253A|ATG13_ENST00000526508.1_Missense_Mutation_p.T253A|ATG13_ENST00000524625.1_Missense_Mutation_p.T253A|ATG13_ENST00000451945.1_Missense_Mutation_p.T253A	p.T253A	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN			10	1446	+			253					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	c.757A>G	CCDS44582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.95|17.95	3.512708|3.512708	0.64522|0.64522	.|.	.|.	ENSG00000175224|ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494|ENST00000531933	.|.	.|.	.|.	6.02|6.02	4.89|4.89	0.63831|0.63831	.|.	0.043797|.	0.85682|.	N|.	0.000000|.	T|T	0.62134|0.62134	0.2403|0.2403	L|L	0.53249|0.53249	1.67|1.67	0.53005|0.53005	D|D	0.99996|0.99996	B;B;B;B|.	0.23591|.	0.0;0.007;0.088;0.005|.	B;B;B;B|.	0.25405|.	0.001;0.009;0.06;0.004|.	T|T	0.58989|0.58989	-0.7538|-0.7538	9|5	0.33940|.	T|.	0.23|.	-12.9875|-12.9875	12.1005|12.1005	0.53780|0.53780	0.9334:0.0:0.0666:0.0|0.9334:0.0:0.0666:0.0	.|.	174;253;253;253|.	B4DFI4;O75143;E9PQZ8;O75143-2|.	.;ATG13_HUMAN;.;.|.	A|C	253;253;253;253;253;174;253;253;253;253|11	.|.	ENSP00000310321:T253A|.	T|Y	+|+	1|2	0|0	ATG13|ATG13	46637579|46637579	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.984000|0.984000	0.73092|0.73092	5.414000|5.414000	0.66405|0.66405	1.103000|1.103000	0.41568|0.41568	0.528000|0.528000	0.53228|0.53228	ACC|TAC		0.433	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		33	70	0	0	0	1	0	33	70				
KIAA1109	84162	broad.mit.edu	37	4	123140523	123140523	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr4:123140523A>G	ENST00000264501.4	+	21	2649	c.2276A>G	c.(2275-2277)tAt>tGt	p.Y759C	KIAA1109_ENST00000455637.1_Missense_Mutation_p.Y759C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.Y759C|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	759					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GATGACATGTATATGGATTTT	0.353																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(2275-2277)tAt>tGt		KIAA1109							158.0	148.0	151.0					4																	123140523		1837	4084	5921	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123140523A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2276A>G	4.37:g.123140523A>G	ENSP00000264501:p.Tyr759Cys					KIAA1109_ENST00000388738.3_Missense_Mutation_p.Y759C|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.Y759C	p.Y759C			Q2LD37	K1109_HUMAN			21	2649	+			759					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.2276A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201581	0.79015	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.24151	2.46;2.46;1.87	5.82	5.82	0.92795	.	1.915110	0.03160	N	0.169155	T	0.54870	0.1885	L	0.55481	1.735	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.01748	-1.1282	10	0.62326	D	0.03	.	16.1806	0.81895	1.0:0.0:0.0:0.0	.	759;759	Q2LD37-5;Q2LD37	.;K1109_HUMAN	C	759	ENSP00000264501:Y759C;ENSP00000373390:Y759C;ENSP00000389925:Y759C	ENSP00000264501:Y759C	Y	+	2	0	KIAA1109	123359973	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.262000	0.95591	2.221000	0.72209	0.528000	0.53228	TAT		0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		73	209	0	0	0	1	0	73	209				
BICD1	636	broad.mit.edu	37	12	32480416	32480416	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr12:32480416C>T	ENST00000281474.5	+	5	1130	c.1027C>T	c.(1027-1029)Ctt>Ttt	p.L343F	BICD1_ENST00000548411.1_Missense_Mutation_p.L343F	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	343					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AAAGGCCATTCTTTTGGCCAA	0.527																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1027-1029)Ctt>Ttt		bicaudal D homolog 1 (Drosophila)							80.0	78.0	79.0					12																	32480416		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32480416C>T	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1027C>T	12.37:g.32480416C>T	ENSP00000281474:p.Leu343Phe					BICD1_ENST00000281474.5_Missense_Mutation_p.L343F	p.L343F	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	1208	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		343					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1027C>T	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948010	0.73787	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.65916	-0.18;-0.18	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	T	0.81612	0.4859	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84558	0.0648	10	0.66056	D	0.02	.	12.5041	0.55972	0.0:0.9229:0.0:0.0771	.	343;343	F8W113;Q96G01	.;BICD1_HUMAN	F	343	ENSP00000446793:L343F;ENSP00000281474:L343F	ENSP00000281474:L343F	L	+	1	0	BICD1	32371683	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	5.863000	0.69568	2.597000	0.87782	0.655000	0.94253	CTT		0.527	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		37	93	0	0	0	1	0	37	93				
SZT2	23334	broad.mit.edu	37	1	43907942	43907942	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:43907942C>G	ENST00000562955.1	+	56	7706	c.7706C>G	c.(7705-7707)gCc>gGc	p.A2569G	SZT2_ENST00000372442.1_Missense_Mutation_p.A1727G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2626					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTGTAGCTGCCAAAGCCATG	0.602																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(7705-7707)gCc>gGc		seizure threshold 2 homolog (mouse)																																				SO:0001583	missense	23334					peroxisome		g.chr1:43907942C>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7706C>G	1.37:g.43907942C>G	ENSP00000457168:p.Ala2569Gly					SZT2_ENST00000372442.1_Missense_Mutation_p.A1727G	p.A2569G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			56	7706	+			2626					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.7706C>G	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250084	0.22880	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.15	5.15	0.70609	.	0.195453	0.44097	D	0.000482	T	0.19366	0.0465	N	0.08118	0	0.22096	N	0.999365	B	0.24721	0.11	B	0.29942	0.109	T	0.09707	-1.0662	9	0.42905	T	0.14	.	6.9681	0.24635	0.1864:0.7253:0.0:0.0883	.	2569	Q5T011-5	.	G	1727	.	ENSP00000361519:A1727G	A	+	2	0	SZT2	43680529	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.336000	0.43938	2.397000	0.81536	0.655000	0.94253	GCC		0.602	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		12	35	0	0	0	1	0	12	35				
TTN	7273	broad.mit.edu	37	2	179597359	179597359	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:179597359T>C	ENST00000591111.1	-	54	15702	c.15478A>G	c.(15478-15480)Act>Gct	p.T5160A	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T5477A|TTN_ENST00000342992.6_Missense_Mutation_p.T4233A|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12528	Ig-like 32.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGAGAGGAGTAGATCCTTGG	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(16429-16431)Act>Gct		titin							66.0	65.0	65.0					2																	179597359		1866	4115	5981	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597359T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15478A>G	2.37:g.179597359T>C	ENSP00000465570:p.Thr5160Ala					TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T5160A|TTN_ENST00000342992.6_Missense_Mutation_p.T4233A|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	p.T5477A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		56	16653	-			5160			Ig-like 35.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16429A>G		.	.	.	.	.	.	.	.	.	.	T	9.263	1.043778	0.19748	.	.	ENSG00000155657	ENST00000342992	T	0.66460	-0.21	6.06	-1.11	0.09840	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40119	0.1104	N	0.03930	-0.32	0.21740	N	0.999564	B	0.02656	0.0	B	0.04013	0.001	T	0.28170	-1.0052	9	0.87932	D	0	.	8.2189	0.31530	0.0:0.3033:0.1006:0.5962	.	5160	Q8WZ42	TITIN_HUMAN	A	4233	ENSP00000343764:T4233A	ENSP00000343764:T4233A	T	-	1	0	TTN	179305604	0.055000	0.20627	0.048000	0.18961	0.969000	0.65631	0.337000	0.19841	-0.417000	0.07461	0.533000	0.62120	ACT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	67	0	0	0	1	0	23	67				
TMPRSS6	164656	broad.mit.edu	37	22	37491963	37491963	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr22:37491963T>C	ENST00000346753.3	-	5	715	c.599A>G	c.(598-600)gAg>gGg	p.E200G	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.E191G|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E200G	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	200	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACTAGGCCCTCGGGGTCCAC	0.647																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(571-573)gAg>gGg		transmembrane protease, serine 6							74.0	63.0	67.0					22																	37491963		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37491963T>C	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.599A>G	22.37:g.37491963T>C	ENSP00000334962:p.Glu200Gly					TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E200G|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E200G	p.E191G			Q8IU80	TMPS6_HUMAN			5	712	-			200					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.572A>G	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	T	4.091	0.014859	0.07959	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	D;D;D;D;T	0.92099	-2.97;-2.97;-2.97;-2.97;-0.91	4.98	3.88	0.44766	.	0.667620	0.14826	N	0.296163	T	0.81861	0.4912	N	0.11427	0.14	0.26820	N	0.968802	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.70799	-0.4774	10	0.34782	T	0.22	.	7.8104	0.29228	0.0:0.1357:0.0:0.8643	.	200;191;200	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	G	191;200;191;191;200	ENSP00000371211:E191G;ENSP00000334962:E200G;ENSP00000385453:E191G;ENSP00000384964:E191G;ENSP00000397691:E200G	ENSP00000334962:E200G	E	-	2	0	TMPRSS6	35821909	0.950000	0.32346	1.000000	0.80357	0.026000	0.11368	1.672000	0.37523	1.863000	0.54032	0.379000	0.24179	GAG		0.647	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		36	81	0	0	0	1	0	36	81				
PGBD1	84547	broad.mit.edu	37	6	28264676	28264676	+	Silent	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:28264676C>G	ENST00000405948.2	+	5	1146	c.726C>G	c.(724-726)ctC>ctG	p.L242L	PGBD1_ENST00000259883.3_Silent_p.L242L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	242						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGAGGAACCTCTGTGGGAACT	0.512																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(724-726)ctC>ctG		piggyBac transposable element derived 1							112.0	104.0	107.0					6																	28264676		2203	4300	6503	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28264676C>G	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.726C>G	6.37:g.28264676C>G						PGBD1_ENST00000259883.3_Silent_p.L242L	p.L242L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			5	1146	+			242					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.726C>G	CCDS4648.1																																																																																				0.512	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			4	80	0	0	0	1	0	4	80				
ZNF513	130557	broad.mit.edu	37	2	27600997	27600997	+	Silent	SNP	A	A	C	rs200250222		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:27600997A>C	ENST00000323703.6	-	4	1239	c.1041T>G	c.(1039-1041)ggT>ggG	p.G347G	ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Silent_p.G285G	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	347					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCACTGGCACCCCCTCCAG	0.662																																						ENST00000323703.6																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(1039-1041)ggT>ggG		zinc finger protein 513							35.0	47.0	43.0					2																	27600997		2203	4300	6503	SO:0001819	synonymous_variant	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600997A>C	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1041T>G	2.37:g.27600997A>C						ZNF513_ENST00000407879.1_Silent_p.G285G|ZNF513_ENST00000491924.1_Intron	p.G347G	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN			4	1239	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		347					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Silent	SNP	ENST00000323703.6	37	c.1041T>G	CCDS1751.1																																																																																				0.662	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		10	52	0	0	0	1	0	10	52				
ITGAX	3687	broad.mit.edu	37	16	31391868	31391868	+	Missense_Mutation	SNP	G	G	T	rs143612140		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr16:31391868G>T	ENST00000268296.4	+	28	3320	c.3199G>T	c.(3199-3201)Gtg>Ttg	p.V1067L	ITGAX_ENST00000562522.1_Missense_Mutation_p.V1067L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1067					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGTGTCGGTCGTGAGTGTGGC	0.562																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(3199-3201)Gtg>Ttg		integrin, alpha X (complement component 3 receptor 4 subunit)							112.0	101.0	105.0					16																	31391868		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31391868G>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3199G>T	16.37:g.31391868G>T	ENSP00000268296:p.Val1067Leu					ITGAX_ENST00000562522.1_Missense_Mutation_p.V1067L	p.V1067L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			28	3320	+			1067					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.3199G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	9.681	1.149283	0.21288	.	.	ENSG00000140678	ENST00000268296	T	0.44881	0.91	4.49	-3.95	0.04118	.	.	.	.	.	T	0.24509	0.0594	L	0.37630	1.12	0.09310	N	1	B;B	0.25486	0.127;0.077	B;B	0.21360	0.015;0.034	T	0.22765	-1.0207	9	0.21540	T	0.41	.	5.083	0.14666	0.4223:0.273:0.3047:0.0	.	1067;252	P20702;Q8TES5	ITAX_HUMAN;.	L	1067	ENSP00000268296:V1067L	ENSP00000268296:V1067L	V	+	1	0	ITGAX	31299369	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.472000	0.02341	-0.575000	0.05982	-0.194000	0.12790	GTG		0.562	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		21	23	1	0	1.87028e-06	1	1.91124e-06	21	23				
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T	rs193920774		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr17:7577141C>T	ENST00000269305.4	-	8	986	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000420246.2_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	GCTGTTCCGTCCCAGTAGATT	0.517		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		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"""		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(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						c.(796-798)gGa>gAa	Other conserved DNA damage response genes	tumor protein p53							50.0	44.0	46.0					17																	7577141		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.chr17:7577141C>T	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.797G>A	17.37:g.7577141C>T	ENSP00000269305:p.Gly266Glu	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_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266E	p.G266E	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)	8	929	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.797G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614795	0.87359	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61;-7.61	5.13	5.13	0.70059	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	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.998	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	266;266;266;266;266;255;134	ENSP00000352610:G266E;ENSP00000269305:G266E;ENSP00000398846:G266E;ENSP00000391127:G266E;ENSP00000391478:G266E;ENSP00000425104:G134E	ENSP00000269305:G266E	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	38	0	0	0	1	0	18	38				
IRX5	10265	broad.mit.edu	37	16	54967589	54967589	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr16:54967589G>A	ENST00000394636.4	+	3	1593	c.1256G>A	c.(1255-1257)gGa>gAa	p.G419E	IRX5_ENST00000560154.1_Missense_Mutation_p.G199E|IRX5_ENST00000320990.5_Missense_Mutation_p.G418E|IRX5_ENST00000558597.1_Missense_Mutation_p.G353E|CTD-3032H12.2_ENST00000560487.1_lincRNA			P78411	IRX5_HUMAN	iroquois homeobox 5	419					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGCTCCTTCGGACACCTTCAT	0.637																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(1255-1257)gGa>gAa		iroquois homeobox 5							24.0	32.0	29.0					16																	54967589		2193	4286	6479	SO:0001583	missense	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54967589G>A	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.1256G>A	16.37:g.54967589G>A	ENSP00000378132:p.Gly419Glu					IRX5_ENST00000558597.1_Missense_Mutation_p.G353E|IRX5_ENST00000560154.1_Missense_Mutation_p.G199E|IRX5_ENST00000320990.5_Missense_Mutation_p.G418E	p.G419E			P78411	IRX5_HUMAN			3	1593	+			419					H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	37	c.1256G>A	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286106	0.59867	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.51574	0.7;0.7	4.54	4.54	0.55810	.	0.232561	0.43416	D	0.000569	T	0.58524	0.2128	L	0.40543	1.245	0.58432	D	0.999999	D	0.69078	0.997	D	0.63597	0.916	T	0.59568	-0.7430	10	0.46703	T	0.11	-3.4703	17.4716	0.87647	0.0:0.0:1.0:0.0	.	419	P78411	IRX5_HUMAN	E	419;418	ENSP00000378132:G419E;ENSP00000316250:G418E	ENSP00000316250:G418E	G	+	2	0	IRX5	53525090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.500000	0.53318	2.340000	0.79590	0.650000	0.86243	GGA		0.637	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			20	79	0	0	0	1	0	20	79				
LCP1	3936	broad.mit.edu	37	13	46721156	46721156	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr13:46721156T>A	ENST00000398576.2	-	13	1449	c.1061A>T	c.(1060-1062)gAt>gTt	p.D354V	LCP1_ENST00000323076.2_Missense_Mutation_p.D354V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	354	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCGGACAACATCTGTGGCTGT	0.532			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1060-1062)gAt>gTt		lymphocyte cytosolic protein 1 (L-plastin)							78.0	73.0	74.0					13																	46721156		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46721156T>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1061A>T	13.37:g.46721156T>A	ENSP00000381581:p.Asp354Val					LCP1_ENST00000323076.2_Missense_Mutation_p.D354V	p.D354V			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	13	1449	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	354			Actin-binding 1.|CH 2.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1061A>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.504605	0.85176	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.97575	-4.44;-4.44	5.34	5.34	0.76211	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98789	0.9592	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99751	1.1018	10	0.87932	D	0	-25.7477	14.7972	0.69886	0.0:0.0:0.0:1.0	.	354	P13796	PLSL_HUMAN	V	354	ENSP00000315757:D354V;ENSP00000381581:D354V	ENSP00000315757:D354V	D	-	2	0	LCP1	45619157	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	7.997000	0.88414	2.135000	0.66039	0.528000	0.53228	GAT		0.532	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		25	59	0	0	0	1	0	25	59				
MYL4	4635	broad.mit.edu	37	17	45291173	45291173	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr17:45291173C>T	ENST00000354968.1	+	3	272	c.144C>T	c.(142-144)ttC>ttT	p.F48F	MYL4_ENST00000393450.1_Silent_p.F48F|MYL4_ENST00000572316.1_Silent_p.F48F	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	48					cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						AGATAGACTTCACTGCCGACC	0.507																																						ENST00000354968.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						c.(142-144)ttC>ttT		myosin, light chain 4, alkali; atrial, embryonic							205.0	178.0	187.0					17																	45291173		2203	4300	6503	SO:0001819	synonymous_variant	4635				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr17:45291173C>T		CCDS11510.1	17q21.32	2013-09-19	2006-09-29		ENSG00000198336	ENSG00000198336		"""Myosins / Light chain"", ""EF-hand domain containing"""	7585	protein-coding gene	gene with protein product	"""myosin, atrial/fetal muscle, light chain"""	160770	"""myosin, light polypeptide 4, alkali; atrial, embryonic"""			3417683	Standard	NM_002476		Approved	ALC1, AMLC, GT1, PRO1957	uc002ilg.3	P12829	OTTHUMG00000178232	ENST00000354968.1:c.144C>T	17.37:g.45291173C>T						MYL4_ENST00000393450.1_Silent_p.F48F|MYL4_ENST00000572316.1_Silent_p.F48F	p.F48F	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN			3	272	+			48					D3DXJ7|P11783	Silent	SNP	ENST00000354968.1	37	c.144C>T	CCDS11510.1																																																																																				0.507	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441059.1	NM_001002841		84	150	0	0	0	1	0	84	150				
EPHA7	2045	broad.mit.edu	37	6	93956565	93956565	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:93956565C>A	ENST00000369303.4	-	15	2855	c.2671G>T	c.(2671-2673)Gac>Tac	p.D891Y		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	891	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.D891Y(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATCATTTTGTCTAGAATTCCA	0.433																																						ENST00000369303.4																			1	Substitution - Missense(1)	p.D891Y(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2671-2673)Gac>Tac		EPH receptor A7							137.0	130.0	133.0					6																	93956565		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93956565C>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2671G>T	6.37:g.93956565C>A	ENSP00000358309:p.Asp891Tyr						p.D891Y	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	15	2855	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	891			Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2671G>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819661	0.90873	.	.	ENSG00000135333	ENST00000369303	T	0.61392	0.11	5.74	5.74	0.90152	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.993	D;P;P	0.79784	0.993;0.832;0.683	T	0.73714	-0.3896	10	0.87932	D	0	.	19.9265	0.97104	0.0:1.0:0.0:0.0	.	887;886;891	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	Y	891	ENSP00000358309:D891Y	ENSP00000358309:D891Y	D	-	1	0	EPHA7	94013286	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.726000	0.84824	2.723000	0.93209	0.591000	0.81541	GAC		0.433	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			43	110	1	0	6.4771e-29	1	7.02941e-29	43	110				
SCYL1	57410	broad.mit.edu	37	11	65304218	65304218	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:65304218G>A	ENST00000270176.5	+	13	1890	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	SCYL1_ENST00000527009.1_Missense_Mutation_p.E462K|SCYL1_ENST00000525364.1_Missense_Mutation_p.E605K|SCYL1_ENST00000533862.1_Missense_Mutation_p.E605K|SCYL1_ENST00000420247.2_Missense_Mutation_p.E605K|SCYL1_ENST00000279270.6_Missense_Mutation_p.E605K|SCYL1_ENST00000524944.1_Missense_Mutation_p.E605K	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	605	Pro-rich.				peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						ACCCACGCCTGAAGGTGAGTG	0.607																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1813-1815)Gaa>Aaa		SCY1-like 1 (S. cerevisiae)							89.0	102.0	97.0					11																	65304218		2113	4221	6334	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65304218G>A	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1813G>A	11.37:g.65304218G>A	ENSP00000270176:p.Glu605Lys					SCYL1_ENST00000527009.1_Missense_Mutation_p.E462K|SCYL1_ENST00000270176.5_Missense_Mutation_p.E605K|SCYL1_ENST00000525364.1_Missense_Mutation_p.E605K|SCYL1_ENST00000533862.1_Missense_Mutation_p.E605K|SCYL1_ENST00000420247.2_Missense_Mutation_p.E605K|SCYL1_ENST00000279270.6_Missense_Mutation_p.E605K|SCYL1_ENST00000527630.1_Missense_Mutation_p.E605K	p.E605K			Q96KG9	NTKL_HUMAN			13	1846	+			605			Pro-rich.		A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1813G>A	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054883	0.36277	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009;ENST00000528545	T;T;T;T;T;T;T;T;T	0.29917	2.3;2.28;2.29;2.3;1.56;2.3;2.3;2.3;1.55	4.95	4.95	0.65309	.	0.626220	0.15655	N	0.251200	T	0.14270	0.0345	N	0.08118	0	0.45295	D	0.998297	B;B;B;B;B	0.30406	0.021;0.157;0.0;0.052;0.278	B;B;B;B;B	0.24974	0.012;0.047;0.002;0.024;0.057	T	0.05533	-1.0879	10	0.06236	T	0.91	-11.9099	13.6635	0.62380	0.0:0.0:1.0:0.0	.	605;605;605;605;605	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	K	605;605;605;605;605;605;605;605;462;78	ENSP00000270176:E605K;ENSP00000431635:E605K;ENSP00000408192:E605K;ENSP00000437254:E605K;ENSP00000433450:E605K;ENSP00000279270:E605K;ENSP00000432175:E605K;ENSP00000436993:E462K;ENSP00000433604:E78K	ENSP00000270176:E605K	E	+	1	0	SCYL1	65060794	1.000000	0.71417	0.985000	0.45067	0.023000	0.10783	4.815000	0.62634	2.297000	0.77311	0.462000	0.41574	GAA		0.607	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		49	125	0	0	0	1	0	49	125				
NOTCH1	4851	broad.mit.edu	37	9	139412212	139412212	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr9:139412212C>T	ENST00000277541.6	-	8	1508	c.1433G>A	c.(1432-1434)tGc>tAc	p.C478Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	478	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C478F(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCGGGCATGCAGATGCACTG	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.C478F(2)	skin(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1432-1434)tGc>tAc		notch 1							49.0	54.0	52.0					9																	139412212		2105	4213	6318	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412212C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1433G>A	9.37:g.139412212C>T	ENSP00000277541:p.Cys478Tyr	HNSCC(8;0.001)					p.C478Y	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1508	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	478			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1433G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554771	0.65425	.	.	ENSG00000148400	ENST00000277541	D	0.99445	-5.91	4.47	4.47	0.54385	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.99929	4.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96198	0.9143	10	0.87932	D	0	.	16.0962	0.81127	0.0:1.0:0.0:0.0	.	478	P46531	NOTC1_HUMAN	Y	478	ENSP00000277541:C478Y	ENSP00000277541:C478Y	C	-	2	0	NOTCH1	138532033	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.258000	0.78371	2.029000	0.59856	0.462000	0.41574	TGC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		104	29	0	0	0	1	0	104	29				
SPOCK1	6695	broad.mit.edu	37	5	136448238	136448238	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr5:136448238C>T	ENST00000394945.1	-	5	529	c.360G>A	c.(358-360)ggG>ggA	p.G120G	SPOCK1_ENST00000282223.7_Silent_p.G120G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	120					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCCACGTTCCCCTTCTTTT	0.488																																						ENST00000394945.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(358-360)ggG>ggA		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1							82.0	80.0	81.0					5																	136448238		2203	4300	6503	SO:0001819	synonymous_variant	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136448238C>T	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.360G>A	5.37:g.136448238C>T						SPOCK1_ENST00000282223.7_Silent_p.G120G	p.G120G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	529	-			120					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	c.360G>A	CCDS4191.1																																																																																				0.488	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		22	70	0	0	0	1	0	22	70				
AXDND1	126859	broad.mit.edu	37	1	179414261	179414261	+	Missense_Mutation	SNP	C	C	G	rs559196812		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:179414261C>G	ENST00000367618.3	+	16	2107	c.1720C>G	c.(1720-1722)Cga>Gga	p.R574G	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.R574G	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	574										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GCCATCAGAGCGACAGTACAT	0.338																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1720-1722)Cga>Gga		axonemal dynein light chain domain containing 1							79.0	84.0	83.0					1																	179414261		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179414261C>G	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1720C>G	1.37:g.179414261C>G	ENSP00000356590:p.Arg574Gly					AXDND1_ENST00000457238.2_Missense_Mutation_p.R574G|AXDND1_ENST00000461179.2_3'UTR	p.R574G	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			16	2107	+			574					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1720C>G	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	5.222	0.226373	0.09916	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.43294	2.28;0.95;2.28	5.65	4.74	0.60224	.	0.963463	0.08695	N	0.907333	T	0.36026	0.0952	L	0.34521	1.04	0.18873	N	0.999986	B;B;B	0.27192	0.023;0.023;0.171	B;B;B	0.25140	0.011;0.011;0.058	T	0.26780	-1.0093	10	0.45353	T	0.12	0.1027	12.3226	0.54993	0.1691:0.8309:0.0:0.0	.	532;574;574	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	G	574;532;574;508	ENSP00000356590:R574G;ENSP00000416712:R574G;ENSP00000391716:R508G	ENSP00000353471:R532G	R	+	1	2	AXDND1	177680884	0.025000	0.19082	0.887000	0.34795	0.015000	0.08874	-0.004000	0.12878	1.513000	0.48852	0.549000	0.68633	CGA		0.338	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		35	67	0	0	0	1	0	35	67				
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	lincRNA	SNP	C	C	G	rs1996904		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508									long intergenic non-protein coding RNA 969																		TGTCACGAATCTTGACAAATT	0.418																																						ENST00000445430.1																			0																																																			440993							g.chr3:195404651C>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195404651C>G														0	1508	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.418	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	100	0	0	0	1	0	4	100				
MEIOB	254528	broad.mit.edu	37	16	1894871	1894871	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr16:1894871G>C	ENST00000397344.3	-	10	1066	c.872C>G	c.(871-873)tCc>tGc	p.S291C	LA16c-429E7.1_ENST00000570247.1_RNA|MEIOB_ENST00000470044.1_Missense_Mutation_p.S84C|MEIOB_ENST00000412554.2_Missense_Mutation_p.S291C|MEIOB_ENST00000325962.3_Missense_Mutation_p.S291C|MEIOB_ENST00000452149.2_Missense_Mutation_p.S291C	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	291					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)										ACAATTTATGGATTCTTTGAA	0.308																																						ENST00000412554.2																			0											c.(871-873)tCc>tGc		meiosis specific with OB domains							46.0	46.0	46.0					16																	1894871		2192	4285	6477	SO:0001583	missense	254528							g.chr16:1894871G>C	BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 73"""	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.872C>G	16.37:g.1894871G>C	ENSP00000380504:p.Ser291Cys					MEIOB_ENST00000397344.3_Missense_Mutation_p.S291C|MEIOB_ENST00000470044.1_Missense_Mutation_p.S84C|MEIOB_ENST00000452149.2_Missense_Mutation_p.S291C|MEIOB_ENST00000325962.3_Missense_Mutation_p.S291C	p.S291C	NM_001163560.2	NP_001157032.1					10	1066	-								B1AK39|C9J0S1|Q96RY0	Missense_Mutation	SNP	ENST00000397344.3	37	c.872C>G	CCDS10449.2	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565820	0.45694	.	.	ENSG00000162039	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.74	4.78	0.61160	.	0.335796	0.31092	N	0.008274	T	0.26412	0.0645	M	0.64997	1.995	0.40458	D	0.98021	D;D	0.63046	0.992;0.975	P;P	0.58970	0.849;0.708	T	0.02167	-1.1202	10	0.54805	T	0.06	.	15.0221	0.71637	0.0:0.0:0.8567:0.1433	.	291;291	C9J0S1;Q8N635	.;CP073_HUMAN	C	291	ENSP00000390778:S291C;ENSP00000391033:S291C;ENSP00000314484:S291C;ENSP00000380504:S291C	ENSP00000314484:S291C	S	-	2	0	C16orf73	1834872	1.000000	0.71417	0.996000	0.52242	0.145000	0.21501	5.894000	0.69806	1.439000	0.47511	0.306000	0.20318	TCC		0.308	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764		18	12	0	0	0	1	0	18	12				
QSOX1	5768	broad.mit.edu	37	1	180155269	180155269	+	Silent	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:180155269A>G	ENST00000367602.3	+	8	1043	c.969A>G	c.(967-969)gaA>gaG	p.E323E	QSOX1_ENST00000367600.5_Silent_p.E323E			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	323					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGGTCCTGGAAGGGCAGCGCC	0.577																																						ENST00000367602.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(967-969)gaA>gaG		quiescin Q6 sulfhydryl oxidase 1							82.0	79.0	80.0					1																	180155269		2203	4300	6503	SO:0001819	synonymous_variant	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180155269A>G	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.969A>G	1.37:g.180155269A>G						QSOX1_ENST00000367600.5_Silent_p.E323E	p.E323E			O00391	QSOX1_HUMAN			8	1043	+			323					Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	ENST00000367602.3	37	c.969A>G	CCDS1337.1																																																																																				0.577	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		20	53	0	0	0	1	0	20	53				
RP1	6101	broad.mit.edu	37	8	55537622	55537622	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr8:55537622A>G	ENST00000220676.1	+	4	1328	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	394					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTGTCACCTATGGAGCGAAG	0.423																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1180-1182)Atg>Gtg		retinitis pigmentosa 1 (autosomal dominant)							77.0	75.0	76.0					8																	55537622		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537622A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1180A>G	8.37:g.55537622A>G	ENSP00000220676:p.Met394Val						p.M394V	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1328	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	394						Missense_Mutation	SNP	ENST00000220676.1	37	c.1180A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	0.141	-1.101886	0.01828	.	.	ENSG00000104237	ENST00000220676	T	0.28255	1.62	4.03	-3.52	0.04682	.	0.570592	0.14475	N	0.317307	T	0.12305	0.0299	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12578	-1.0542	10	0.56958	D	0.05	.	1.1992	0.01881	0.4821:0.1351:0.1246:0.2581	.	394	P56715	RP1_HUMAN	V	394	ENSP00000220676:M394V	ENSP00000220676:M394V	M	+	1	0	RP1	55700175	0.706000	0.27856	0.000000	0.03702	0.007000	0.05969	0.550000	0.23345	-0.513000	0.06496	-0.219000	0.12488	ATG		0.423	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		29	105	0	0	0	1	0	29	105				
OR5L1	219437	broad.mit.edu	37	11	55579760	55579760	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:55579760T>G	ENST00000333973.2	+	1	907	c.818T>G	c.(817-819)gTg>gGg	p.V273G		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCTGACAAAGTGGCCACCGTG	0.473																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(817-819)gTg>gGg		olfactory receptor, family 5, subfamily L, member 1							87.0	78.0	81.0					11																	55579760		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579760T>G	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.818T>G	11.37:g.55579760T>G	ENSP00000335529:p.Val273Gly						p.V273G	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	907	+		all_epithelial(135;0.208)	273					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.818T>G	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	16.26	3.072896	0.55646	.	.	ENSG00000186117	ENST00000333973	T	0.00285	8.3	4.12	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000237	T	0.00412	0.0013	L	0.58810	1.83	0.09310	N	0.999994	D	0.63046	0.992	D	0.68483	0.958	T	0.50189	-0.8857	10	0.87932	D	0	-27.017	5.1333	0.14922	0.3021:0.0:0.1551:0.5428	.	273	Q8NGL2	OR5L1_HUMAN	G	273	ENSP00000335529:V273G	ENSP00000335529:V273G	V	+	2	0	OR5L1	55336336	0.002000	0.14202	0.015000	0.15790	0.559000	0.35586	1.330000	0.33781	0.457000	0.26962	0.352000	0.21897	GTG		0.473	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		33	70	0	0	0	1	0	33	70				
KCTD3	51133	broad.mit.edu	37	1	215777507	215777507	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:215777507G>A	ENST00000259154.4	+	13	1466	c.1172G>A	c.(1171-1173)gGt>gAt	p.G391D		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	391					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATCGCCTATGGTACGAGCTCT	0.453																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(1171-1173)gGt>gAt		potassium channel tetramerization domain containing 3							135.0	127.0	130.0					1																	215777507		2203	4300	6503	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215777507G>A	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1172G>A	1.37:g.215777507G>A	ENSP00000259154:p.Gly391Asp						p.G391D	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	13	1466	+			391					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.1172G>A	CCDS1515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.482890|5.482890	0.96307|0.96307	.|.	.|.	ENSG00000136636|ENSG00000136636	ENST00000259154;ENST00000366946|ENST00000452413	T|.	0.10477|.	2.87|.	6.17|6.17	6.17|6.17	0.99709|0.99709	WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.85106|.	0.5621|.	M|M	0.88031|0.88031	2.925|2.925	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.992|.	D|.	0.85654|.	0.1284|.	10|.	0.87932|.	D|.	0|.	-32.7248|-32.7248	19.8676|19.8676	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	143;143;391;391|.	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597|.	.;.;.;KCTD3_HUMAN|.	D|X	391;43|22	ENSP00000259154:G391D|.	ENSP00000259154:G391D|.	G|W	+|+	2|3	0|0	KCTD3|KCTD3	213844130|213844130	1.000000|1.000000	0.71417|0.71417	0.640000|0.640000	0.29408|0.29408	0.982000|0.982000	0.71751|0.71751	9.476000|9.476000	0.97823|0.97823	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.453	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		33	86	0	0	0	1	0	33	86				
AGMO	392636	broad.mit.edu	37	7	15601453	15601453	+	Silent	SNP	G	G	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:15601453G>T	ENST00000342526.3	-	1	187	c.18C>A	c.(16-18)gcC>gcA	p.A6A		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	6					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CATCCTGCTGGGCTTCTGGGT	0.443																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(16-18)gcC>gcA		alkylglycerol monooxygenase							106.0	102.0	104.0					7																	15601453		2203	4300	6503	SO:0001819	synonymous_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15601453G>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.18C>A	7.37:g.15601453G>T							p.A6A	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			1	187	-			6					A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	c.18C>A	CCDS34604.1																																																																																				0.443	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		35	150	1	0	2.68265e-12	1	2.82384e-12	35	150				
RSPO2	340419	broad.mit.edu	37	8	108972911	108972911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr8:108972911C>T	ENST00000276659.5	-	4	1038	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	RSPO2_ENST00000517781.1_Missense_Mutation_p.E77K|RSPO2_ENST00000517939.1_Missense_Mutation_p.E73K|RSPO2_ENST00000378439.2_Missense_Mutation_p.E77K	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	140					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCCACACATTCCATGGTTTCT	0.348																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(418-420)Gaa>Aaa		R-spondin 2							100.0	93.0	95.0					8																	108972911		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108972911C>T	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.418G>A	8.37:g.108972911C>T	ENSP00000276659:p.Glu140Lys					RSPO2_ENST00000517781.1_Missense_Mutation_p.E77K|RSPO2_ENST00000517939.1_Missense_Mutation_p.E73K|RSPO2_ENST00000378439.2_Missense_Mutation_p.E77K	p.E140K	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		4	1038	-			140					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.418G>A	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553913	0.86231	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502;ENST00000521757	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.87	5.87	0.94306	Growth factor, receptor (1);	0.047965	0.85682	D	0.000000	T	0.81842	0.4908	L	0.37800	1.135	0.80722	D	1	B;P	0.40731	0.447;0.728	B;B	0.39339	0.109;0.297	T	0.80834	-0.1205	10	0.39692	T	0.17	-1.5729	20.2154	0.98294	0.0:1.0:0.0:0.0	.	140;77	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	K	73;77;77;140;73;73	ENSP00000428940:E73K;ENSP00000427937:E77K;ENSP00000367698:E77K;ENSP00000276659:E140K;ENSP00000428614:E73K;ENSP00000430485:E73K	ENSP00000276659:E140K	E	-	1	0	RSPO2	109042087	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.769000	0.85360	2.788000	0.95919	0.551000	0.68910	GAA		0.348	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		22	149	0	0	0	1	0	22	149				
ARFGEF2	10564	broad.mit.edu	37	20	47630398	47630398	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr20:47630398G>C	ENST00000371917.4	+	30	4080	c.4080G>C	c.(4078-4080)aaG>aaC	p.K1360N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1360					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGATCATGAAGAGCTATGGCC	0.473																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(4078-4080)aaG>aaC		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							142.0	122.0	129.0					20																	47630398		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47630398G>C	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.4080G>C	20.37:g.47630398G>C	ENSP00000360985:p.Lys1360Asn						p.K1360N	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		30	4080	+			1360					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.4080G>C	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281051	0.80692	.	.	ENSG00000124198	ENST00000371917	T	0.58797	0.31	5.6	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.101742	0.64402	D	0.000002	T	0.72317	0.3445	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.74535	-0.3633	10	0.66056	D	0.02	.	10.5788	0.45244	0.1475:0.0:0.8525:0.0	.	1360	Q9Y6D5	BIG2_HUMAN	N	1360	ENSP00000360985:K1360N	ENSP00000360985:K1360N	K	+	3	2	ARFGEF2	47063805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.596000	0.54024	1.357000	0.45904	0.491000	0.48974	AAG		0.473	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		42	153	0	0	0	1	0	42	153				
DIP2C	22982	broad.mit.edu	37	10	468941	468941	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr10:468941C>A	ENST00000280886.6	-	5	514	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	DIP2C_ENST00000381496.3_Missense_Mutation_p.V36L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	143						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCCCCCTGCACTGAGCCTTCA	0.562																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(427-429)Gtg>Ttg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							90.0	93.0	92.0					10																	468941		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:468941C>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.427G>T	10.37:g.468941C>A	ENSP00000280886:p.Val143Leu					DIP2C_ENST00000381496.3_Missense_Mutation_p.V36L	p.V143L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	5	514	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	143					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.427G>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	6.626	0.483977	0.12581	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.27104	2.07;1.69	5.39	5.39	0.77823	.	0.075665	0.51477	D	0.000087	T	0.10380	0.0254	N	0.03948	-0.315	0.42822	D	0.993996	B	0.02656	0.0	B	0.04013	0.001	T	0.12243	-1.0555	10	0.02654	T	1	-26.908	13.5111	0.61513	0.0:0.9252:0.0:0.0748	.	143	Q9Y2E4	DIP2C_HUMAN	L	143;36	ENSP00000280886:V143L;ENSP00000370907:V36L	ENSP00000280886:V143L	V	-	1	0	DIP2C	458941	0.909000	0.30893	0.994000	0.49952	0.842000	0.47809	2.102000	0.41796	2.539000	0.85634	0.460000	0.39030	GTG		0.562	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		58	128	1	0	7.10663e-31	1	7.77287e-31	58	128				
ATG4D	84971	broad.mit.edu	37	19	10655726	10655726	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr19:10655726C>G	ENST00000309469.4	+	3	586	c.413C>G	c.(412-414)tCg>tGg	p.S138W	ATG4D_ENST00000540862.1_5'UTR	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	138					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGCCTGACCTCGGACTGTGGC	0.632																																						ENST00000309469.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(412-414)tCg>tGg		autophagy related 4D, cysteine peptidase							95.0	102.0	99.0					19																	10655726		2203	4300	6503	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10655726C>G	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.413C>G	19.37:g.10655726C>G	ENSP00000311318:p.Ser138Trp					ATG4D_ENST00000540862.1_5'UTR	p.S138W	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		3	586	+			138					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.413C>G	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764725	0.69878	.	.	ENSG00000130734	ENST00000309469	T	0.60548	0.18	4.84	4.84	0.62591	.	0.063063	0.64402	D	0.000010	T	0.79287	0.4420	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.79108	0.992;0.964;0.987	D	0.83892	0.0285	10	0.87932	D	0	-14.7744	16.6843	0.85301	0.0:1.0:0.0:0.0	.	75;161;138	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	W	138	ENSP00000311318:S138W	ENSP00000311318:S138W	S	+	2	0	ATG4D	10516726	1.000000	0.71417	0.965000	0.40720	0.070000	0.16714	7.364000	0.79526	2.221000	0.72209	0.643000	0.83706	TCG		0.632	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		18	266	0	0	0	1	0	18	266				
CNOT1	23019	broad.mit.edu	37	16	58557303	58557303	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr16:58557303A>T	ENST00000317147.5	-	47	7220	c.6888T>A	c.(6886-6888)aaT>aaA	p.N2296K	CNOT1_ENST00000245138.4_Missense_Mutation_p.N1147K|CNOT1_ENST00000569240.1_Missense_Mutation_p.N2291K	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2296					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGGCTTCCGTATTGGCCTCTG	0.413																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6886-6888)aaT>aaA		CCR4-NOT transcription complex, subunit 1							185.0	174.0	178.0					16																	58557303		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58557303A>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6888T>A	16.37:g.58557303A>T	ENSP00000320949:p.Asn2296Lys					CNOT1_ENST00000569240.1_Missense_Mutation_p.N2291K|CNOT1_ENST00000245138.4_Missense_Mutation_p.N1147K	p.N2296K	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	47	7220	-			2296					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6888T>A	CCDS10799.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.6|24.6	4.551609|4.551609	0.86127|0.86127	.|.	.|.	ENSG00000125107|ENSG00000125107	ENST00000546037|ENST00000317147;ENST00000422872;ENST00000245138	.|T	.|0.47528	.|0.84	6.03|6.03	3.04|3.04	0.35103|0.35103	.|CCR4-Not complex component, Not1, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59459|0.59459	0.2195|0.2195	M|M	0.63169|0.63169	1.94|1.94	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.76494	.|0.999;0.743;0.957	.|D;P;P	.|0.71184	.|0.972;0.607;0.856	T|T	0.53493|0.53493	-0.8431|-0.8431	5|10	.|0.24483	.|T	.|0.36	-9.4785|-9.4785	10.0143|10.0143	0.42006|0.42006	0.2187:0.0:0.7813:0.0|0.2187:0.0:0.7813:0.0	.|.	.|1147;2296;2291	.|B5MDN3;A5YKK6;A5YKK6-2	.|.;CNOT1_HUMAN;.	K|K	301|2296;990;1147	.|ENSP00000320949:N2296K	.|ENSP00000245138:N1147K	I|N	-|-	2|3	0|2	CNOT1|CNOT1	57114804|57114804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.580000|2.580000	0.46068|0.46068	0.433000|0.433000	0.26313|0.26313	-0.242000|-0.242000	0.12053|0.12053	ATA|AAT		0.413	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		35	164	0	0	0	1	0	35	164				
FLG	2312	broad.mit.edu	37	1	152277201	152277201	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:152277201G>A	ENST00000368799.1	-	3	10196	c.10161C>T	c.(10159-10161)ctC>ctT	p.L3387L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3387	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCTGGTAGAGGAAAGACC	0.612									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10159-10161)ctC>ctT		filaggrin							227.0	251.0	243.0					1																	152277201		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277201G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10161C>T	1.37:g.152277201G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.L3387L	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10196	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3387			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.10161C>T	CCDS30860.1																																																																																				0.612	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		201	385	0	0	0	1	0	201	385				
DENND4B	9909	broad.mit.edu	37	1	153906274	153906274	+	Silent	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:153906274C>G	ENST00000361217.4	-	20	3433	c.3015G>C	c.(3013-3015)ctG>ctC	p.L1005L	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1005					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGTCAGGCTCAGGTCTGAGA	0.642																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(3013-3015)ctG>ctC		DENN/MADD domain containing 4B							14.0	15.0	15.0					1																	153906274		1876	4066	5942	SO:0001819	synonymous_variant	9909							g.chr1:153906274C>G	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3015G>C	1.37:g.153906274C>G							p.L1005L	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		20	3433	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1005					Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.3015G>C	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		13	14	0	0	0	1	0	13	14				
POLQ	10721	broad.mit.edu	37	3	121207907	121207907	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr3:121207907G>C	ENST00000264233.5	-	16	3999	c.3871C>G	c.(3871-3873)Cta>Gta	p.L1291V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1291					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTTCTTGTAGTCTAGAAATA	0.333								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3871-3873)Cta>Gta	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							73.0	78.0	76.0					3																	121207907		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207907G>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3871C>G	3.37:g.121207907G>C	ENSP00000264233:p.Leu1291Val						p.L1291V	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3999	-			1291					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.3871C>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.740105	0.00088	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.40756	1.02	5.45	-3.44	0.04796	.	1.532230	0.03403	N	0.203611	T	0.17195	0.0413	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36383	-0.9750	10	0.02654	T	1	.	9.2554	0.37579	0.0:0.6127:0.1549:0.2324	.	1291;463	O75417;O75417-2	DPOLQ_HUMAN;.	V	914;1291;1427	ENSP00000264233:L1291V	ENSP00000264233:L1291V	L	-	1	2	POLQ	122690597	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.920000	0.04013	-0.458000	0.07023	-0.457000	0.05445	CTA		0.333	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		64	200	0	0	0	1	0	64	200				
ZNF184	7738	broad.mit.edu	37	6	27420364	27420364	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:27420364T>C	ENST00000211936.6	-	6	1258	c.974A>G	c.(973-975)cAg>cGg	p.Q325R	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q325R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGAATTCTCTGATGCTGAAC	0.403																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(973-975)cAg>cGg		zinc finger protein 184							50.0	51.0	51.0					6																	27420364		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420364T>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.974A>G	6.37:g.27420364T>C	ENSP00000211936:p.Gln325Arg					ZNF184_ENST00000377419.1_Missense_Mutation_p.Q325R	p.Q325R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1258	-			325					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.974A>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.459962	0.26248	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087;ENST00000538681	T;T	0.07327	3.2;3.2	4.8	4.8	0.61643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.478134	0.17935	N	0.157021	T	0.01254	0.0041	N	0.01649	-0.78	0.28089	N	0.931899	B	0.25441	0.126	B	0.19946	0.027	T	0.45760	-0.9239	10	0.49607	T	0.09	.	12.6228	0.56614	0.0:0.0:0.0:1.0	.	325	Q99676	ZN184_HUMAN	R	325;325;325;13	ENSP00000211936:Q325R;ENSP00000366636:Q325R	ENSP00000211936:Q325R	Q	-	2	0	ZNF184	27528343	0.061000	0.20836	1.000000	0.80357	0.998000	0.95712	0.763000	0.26517	2.148000	0.66965	0.455000	0.32223	CAG		0.403	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		32	42	0	0	0	1	0	32	42				
EYS	346007	broad.mit.edu	37	6	66204885	66204885	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:66204885C>A	ENST00000370621.3	-	4	945	c.419G>T	c.(418-420)tGg>tTg	p.W140L	EYS_ENST00000393380.2_Missense_Mutation_p.W140L|EYS_ENST00000370616.2_Missense_Mutation_p.W140L|EYS_ENST00000370618.3_Missense_Mutation_p.W140L|EYS_ENST00000342421.5_Missense_Mutation_p.W140L|EYS_ENST00000503581.1_Missense_Mutation_p.W140L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	140					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AACACTCAGCCACTTAGAATT	0.423																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(418-420)tGg>tTg		eyes shut homolog (Drosophila)							68.0	60.0	63.0					6																	66204885		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204885C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.419G>T	6.37:g.66204885C>A	ENSP00000359655:p.Trp140Leu					EYS_ENST00000370618.3_Missense_Mutation_p.W140L|EYS_ENST00000370621.3_Missense_Mutation_p.W140L|EYS_ENST00000393380.2_Missense_Mutation_p.W140L|EYS_ENST00000370616.2_Missense_Mutation_p.W140L|EYS_ENST00000342421.5_Missense_Mutation_p.W140L	p.W140L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	956	-			140					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.419G>T		.	.	.	.	.	.	.	.	.	.	C	18.50	3.637157	0.67130	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.86230	-1.54;-1.53;-1.53;-2.09;-2.09;-2.09	4.92	4.04	0.47022	.	.	.	.	.	T	0.64170	0.2574	N	0.08118	0	0.26459	N	0.975478	P;P;P	0.50943	0.844;0.863;0.94	P;P;B	0.48873	0.46;0.593;0.389	T	0.60100	-0.7329	9	0.11182	T	0.66	.	11.9099	0.52733	0.1747:0.8253:0.0:0.0	.	140;140;140	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	L	140	ENSP00000424243:W140L;ENSP00000359655:W140L;ENSP00000359650:W140L;ENSP00000377042:W140L;ENSP00000341818:W140L;ENSP00000359652:W140L	ENSP00000341818:W140L	W	-	2	0	EYS	66261606	1.000000	0.71417	0.523000	0.27875	0.911000	0.54048	3.471000	0.53107	1.152000	0.42452	0.591000	0.81541	TGG		0.423	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		39	79	1	0	6.97489e-18	1	7.39761e-18	39	79				
TRAF3IP2	10758	broad.mit.edu	37	6	111912597	111912597	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:111912597G>A	ENST00000340026.6	-	3	1314	c.720C>T	c.(718-720)ctC>ctT	p.L240L	TRAF3IP2_ENST00000359831.4_Silent_p.L231L|TRAF3IP2_ENST00000368761.5_Silent_p.L231L|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	240	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CCCTGGACCTGAGAGGTCTGG	0.572																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(691-693)ctC>ctT		TRAF3 interacting protein 2							72.0	75.0	74.0					6																	111912597		2203	4300	6503	SO:0001819	synonymous_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111912597G>A	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.720C>T	6.37:g.111912597G>A						TRAF3IP2_ENST00000359831.4_Silent_p.L231L|TRAF3IP2_ENST00000340026.6_Silent_p.L240L|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR	p.L231L	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	2	1171	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	240					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	ENST00000340026.6	37	c.693C>T																																																																																					0.572	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			62	99	0	0	0	1	0	62	99				
CPAMD8	27151	broad.mit.edu	37	19	17088291	17088291	+	Missense_Mutation	SNP	C	C	T	rs373943547		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr19:17088291C>T	ENST00000443236.1	-	15	1817	c.1786G>A	c.(1786-1788)Gtg>Atg	p.V596M	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	549						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTGGGGGTCACGGCCAGATGA	0.592																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(1786-1788)Gtg>Atg		C3 and PZP-like, alpha-2-macroglobulin domain containing 8		C	MET/VAL	0,3898		0,0,1949	42.0	48.0	46.0		1786	1.5	0.5	19		46	1,8275		0,1,4137	no	missense	CPAMD8	NM_015692.2	21	0,1,6086	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	596/1933	17088291	1,12173	1949	4138	6087	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17088291C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1786G>A	19.37:g.17088291C>T	ENSP00000402505:p.Val596Met					CPAMD8_ENST00000388925.4_Intron	p.V596M	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			15	1817	-			549					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.1786G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	c	13.53	2.265913	0.40095	0.0	1.21E-4	ENSG00000160111	ENST00000291440	.	.	.	2.62	1.51	0.23008	Alpha-2-macroglobulin, N-terminal 2 (1);	0.358092	0.21111	U	0.079996	T	0.61813	0.2377	M	0.85041	2.73	0.80722	D	1	D	0.55800	0.973	P	0.45998	0.5	T	0.69198	-0.5208	9	0.72032	D	0.01	.	9.1806	0.37138	0.0:0.7943:0.0:0.2057	.	549	Q8IZJ3	CPMD8_HUMAN	M	596	.	ENSP00000291440:V596M	V	-	1	0	CPAMD8	16949291	0.986000	0.35501	0.485000	0.27403	0.473000	0.32948	2.755000	0.47540	1.181000	0.42912	0.461000	0.40582	GTG		0.592	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		29	51	0	0	0	1	0	29	51				
WBP11	51729	broad.mit.edu	37	12	14946725	14946725	+	Missense_Mutation	SNP	C	C	T	rs150908147		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr12:14946725C>T	ENST00000261167.2	-	8	1086	c.853G>A	c.(853-855)Ggg>Agg	p.G285R		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	285	Asp-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.G285W(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AATTCATCCCCGTCACTTTCT	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		17639	0.0		0.0	False		,,,				2504	0.001					ENST00000261167.2																			1	Substitution - Missense(1)	p.G285W(1)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(853-855)Ggg>Agg		WW domain binding protein 11		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	341.0	298.0	313.0		853	5.2	1.0	12	dbSNP_134	313	0,8600		0,0,4300	no	missense	WBP11	NM_016312.2	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	285/642	14946725	1,13005	2203	4300	6503	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14946725C>T	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.853G>A	12.37:g.14946725C>T	ENSP00000261167:p.Gly285Arg					WBP11_ENST00000537574.1_Missense_Mutation_p.G285R	p.G285R	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			8	1086	-			285			Asp-rich.		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.853G>A	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598949	0.66332	2.27E-4	0.0	ENSG00000084463	ENST00000261167;ENST00000537574	D	0.89939	-2.59	5.23	5.23	0.72850	.	0.294191	0.32218	N	0.006405	D	0.85120	0.5624	L	0.50333	1.59	0.38758	D	0.95425	P	0.48589	0.912	B	0.36719	0.231	D	0.88703	0.3217	10	0.66056	D	0.02	-9.2113	16.2999	0.82804	0.0:1.0:0.0:0.0	.	285	Q9Y2W2	WBP11_HUMAN	R	285	ENSP00000442868:G285R	ENSP00000261167:G285R	G	-	1	0	WBP11	14837992	0.533000	0.26354	0.998000	0.56505	0.953000	0.61014	3.573000	0.53856	2.448000	0.82819	0.655000	0.94253	GGG		0.423	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		128	262	0	0	0	1	0	128	262				
CYP2R1	120227	broad.mit.edu	37	11	14901976	14901976	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:14901976C>T	ENST00000334636.5	-	3	752	c.706G>A	c.(706-708)Ggc>Agc	p.G236S	CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	236					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GGCAGGATGCCAATCCATGGA	0.398																																					NSCLC(173;1584 2058 26117 29365 41534)	ENST00000334636.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(706-708)Ggc>Agc		cytochrome P450, family 2, subfamily R, polypeptide 1	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						77.0	74.0	75.0					11																	14901976		2200	4293	6493	SO:0001583	missense	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14901976C>T	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.706G>A	11.37:g.14901976C>T	ENSP00000334592:p.Gly236Ser					CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	p.G236S	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN			3	752	-			236					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.706G>A	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059619	0.76074	.	.	ENSG00000186104	ENST00000334636	T	0.66815	-0.23	6.17	6.17	0.99709	.	0.143080	0.64402	D	0.000006	T	0.68081	0.2962	N	0.21373	0.66	0.80722	D	1	P;B	0.35774	0.519;0.004	P;B	0.47075	0.536;0.025	T	0.67669	-0.5611	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	121;236	E9PS56;Q6VVX0	.;CP2R1_HUMAN	S	236	ENSP00000334592:G236S	ENSP00000334592:G236S	G	-	1	0	CYP2R1	14858552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.964000	0.63701	2.941000	0.99782	0.655000	0.94253	GGC		0.398	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		31	83	0	0	0	1	0	31	83				
SOBP	55084	broad.mit.edu	37	6	107955178	107955178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:107955178G>A	ENST00000317357.5	+	6	1789	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCTCCCCTTGGCGTCCCGCCT	0.647																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(1129-1131)gGc>gAc		sine oculis binding protein homolog (Drosophila)							73.0	81.0	78.0					6																	107955178		2026	4181	6207	SO:0001583	missense	55084						metal ion binding	g.chr6:107955178G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1130G>A	6.37:g.107955178G>A	ENSP00000318900:p.Gly377Asp						p.G377D	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	1789	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	377			Pro-rich.			Missense_Mutation	SNP	ENST00000317357.5	37	c.1130G>A	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080010	0.76528	.	.	ENSG00000112320	ENST00000317357	T	0.33865	1.39	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12091	-1.0561	10	0.30078	T	0.28	-10.5217	19.3015	0.94145	0.0:0.0:1.0:0.0	.	377	A7XYQ1	SOBP_HUMAN	D	377	ENSP00000318900:G377D	ENSP00000318900:G377D	G	+	2	0	SOBP	108061871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.237000	0.78164	2.552000	0.86080	0.561000	0.74099	GGC		0.647	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		47	97	0	0	0	1	0	47	97				
KMT2D	8085	broad.mit.edu	37	12	49428450	49428450	+	Splice_Site	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr12:49428450C>G	ENST00000301067.7	-	36	10355		c.e36-1		KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CACTTGCTGTCTGGAGTCCAC	0.547																																						ENST00000301067.7																			0											c.e36-1		lysine (K)-specific methyltransferase 2D							40.0	40.0	40.0					12																	49428450		1942	4131	6073	SO:0001630	splice_region_variant	8085							g.chr12:49428450C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10356-1G>C	12.37:g.49428450C>G								NM_003482.3	NP_003473.3					36	10355	-								O14687	Splice_Site	SNP	ENST00000301067.7	37		CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367141	0.61513	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1649	0.81747	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47714717	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.631000	0.61304	2.779000	0.95612	0.655000	0.94253	.		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Intron	7	27	0	0	0	1	0	7	27				
CACNB2	783	broad.mit.edu	37	10	18629869	18629869	+	Intron	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr10:18629869G>A	ENST00000324631.7	+	3	273				CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000396576.2_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000377329.4_Missense_Mutation_p.R5H|CACNB2_ENST00000377328.1_Intron	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTGACAGACGCCTTATAGCT	0.478																																						ENST00000377329.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(13-15)cGc>cAc		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						150.0	150.0	150.0					10																	18629869		1918	4132	6050	SO:0001627	intron_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18629869G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.214-60984G>A	10.37:g.18629869G>A						CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000324631.7_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000396576.2_Intron|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000282343.8_Intron	p.R5H	NM_201590.2	NP_963884.2	Q08289	CACB2_HUMAN			1	204	+			0					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.14G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173888	0.57692	.	.	ENSG00000165995	ENST00000377329	D	0.83075	-1.68	5.16	2.17	0.27698	.	.	.	.	.	T	0.64034	0.2562	N	0.08118	0	0.80722	D	1	B;B;B;B	0.09022	0.002;0.002;0.0;0.001	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.52442	-0.8575	9	0.42905	T	0.14	.	6.9937	0.24769	0.3105:0.0:0.6895:0.0	.	5;5;5;5	Q5QJ99;Q6TME0;Q6TME1;Q08289-3	.;.;.;.	H	5	ENSP00000366546:R5H	ENSP00000366546:R5H	R	+	2	0	CACNB2	18669875	1.000000	0.71417	0.479000	0.27329	0.503000	0.33858	2.038000	0.41184	0.283000	0.22279	0.655000	0.94253	CGC		0.478	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		48	120	0	0	0	1	0	48	120				
ZSCAN22	342945	broad.mit.edu	37	19	58850657	58850657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr19:58850657G>A	ENST00000329665.4	+	3	1588	c.1441G>A	c.(1441-1443)Gtt>Att	p.V481I		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	481					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)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AGCCCTGATGGTTCACTTGCG	0.587																																						ENST00000329665.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(1441-1443)Gtt>Att		zinc finger and SCAN domain containing 22							64.0	56.0	59.0					19																	58850657		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850657G>A	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1441G>A	19.37:g.58850657G>A	ENSP00000332433:p.Val481Ile						p.V481I	NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1588	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	481					Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.1441G>A	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	G	8.180	0.793639	0.16327	.	.	ENSG00000182318	ENST00000329665	T	0.06687	3.27	4.18	-2.56	0.06268	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06005	0.0156	L	0.39633	1.23	0.09310	N	1	B	0.15719	0.014	B	0.10450	0.005	T	0.40887	-0.9539	9	0.48119	T	0.1	.	2.7995	0.05410	0.3061:0.0:0.3574:0.3365	.	481	P10073	ZSC22_HUMAN	I	481	ENSP00000332433:V481I	ENSP00000332433:V481I	V	+	1	0	ZSCAN22	63542469	0.000000	0.05858	0.013000	0.15412	0.212000	0.24457	-0.866000	0.04245	-0.105000	0.12132	0.563000	0.77884	GTT		0.587	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		28	44	0	0	0	1	0	28	44				
EPHA10	284656	broad.mit.edu	37	1	38181550	38181550	+	IGR	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:38181550G>A	ENST00000373048.4	-	0	5425				EPHA10_ENST00000427468.2_3'UTR|EPHA10_ENST00000330210.7_Silent_p.C542C|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_3'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10						ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GATCTCAGACGCAGATTCTGG	0.557																																						ENST00000330210.7																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1624-1626)tgC>tgT		EPH receptor A10							84.0	79.0	80.0					1																	38181550		876	1991	2867	SO:0001628	intergenic_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38181550G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325		1.37:g.38181550G>A						EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_3'UTR|EPHA10_ENST00000540011.1_3'UTR	p.C542C			Q5JZY3	EPHAA_HUMAN			14	1939	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	0			Fibronectin type-III 2.		A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.1626C>T	CCDS41305.1																																																																																				0.557	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		18	43	0	0	0	1	0	18	43				
PHF2	5253	broad.mit.edu	37	9	96437264	96437264	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr9:96437264G>C	ENST00000359246.4	+	19	3049	c.2682G>C	c.(2680-2682)aaG>aaC	p.K894N	PHF2_ENST00000375376.4_Missense_Mutation_p.K125N	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	894					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCCGGTCGAAGAAAAGGAAAG	0.582																																						ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2680-2682)aaG>aaC		PHD finger protein 2							103.0	89.0	94.0					9																	96437264		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96437264G>C	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2682G>C	9.37:g.96437264G>C	ENSP00000352185:p.Lys894Asn					PHF2_ENST00000375376.4_Missense_Mutation_p.K125N	p.K894N	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	19	3049	+		Myeloproliferative disorder(762;0.0255)	894					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.2682G>C	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750279	0.49257	.	.	ENSG00000197724	ENST00000359246;ENST00000375376	T;T	0.60920	0.15;0.15	5.0	1.67	0.24075	.	0.048028	0.85682	D	0.000000	T	0.69124	0.3076	L	0.57536	1.79	0.43168	D	0.994966	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.70854	-0.4759	10	0.87932	D	0	-24.2466	11.5032	0.50450	0.2351:0.0:0.7649:0.0	.	313;894	Q8N359;O75151	.;PHF2_HUMAN	N	894;125	ENSP00000352185:K894N;ENSP00000364525:K125N	ENSP00000352185:K894N	K	+	3	2	PHF2	95477085	1.000000	0.71417	0.996000	0.52242	0.446000	0.32137	1.975000	0.40569	0.511000	0.28236	-0.137000	0.14449	AAG		0.582	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		17	94	0	0	0	1	0	17	94				
TBX20	57057	broad.mit.edu	37	7	35242348	35242348	+	Silent	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:35242348G>C	ENST00000408931.3	-	8	1564	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	346					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CCCAGGAGCTGAGAGACAAAT	0.438																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(1036-1038)ctC>ctG		T-box 20							17.0	16.0	16.0					7																	35242348		1790	4028	5818	SO:0001819	synonymous_variant	57057					nucleus	DNA binding	g.chr7:35242348G>C	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1038C>G	7.37:g.35242348G>C							p.L346L	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			8	1564	-			346					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	ENST00000408931.3	37	c.1038C>G	CCDS43568.1																																																																																				0.438	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		3	18	0	0	0	1	0	3	18				
SEMA5B	54437	broad.mit.edu	37	3	122645415	122645415	+	Silent	SNP	G	G	A	rs368230765		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr3:122645415G>A	ENST00000357599.3	-	9	1346	c.960C>T	c.(958-960)cgC>cgT	p.R320R	AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000195173.4_Silent_p.R320R|SEMA5B_ENST00000451055.2_Silent_p.R374R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	320	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TCTTGCACACGCGGGCCACGC	0.617																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(958-960)cgC>cgT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B		G		1,4405	2.1+/-5.4	0,1,2202	54.0	46.0	48.0		960	-4.8	0.8	3		48	0,8600		0,0,4300	no	coding-synonymous	SEMA5B	NM_001031702.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		320/1152	122645415	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122645415G>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.960C>T	3.37:g.122645415G>A						SEMA5B_ENST00000357599.3_Silent_p.R320R|SEMA5B_ENST00000451055.2_Silent_p.R374R	p.R320R			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	9	1263	-			320			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.960C>T	CCDS35491.1																																																																																				0.617	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		19	58	0	0	0	1	0	19	58				
MEIS1	4211	broad.mit.edu	37	2	66739354	66739354	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:66739354T>C	ENST00000272369.9	+	8	1273	c.816T>C	c.(814-816)cgT>cgC	p.R272R	MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000398506.2_Silent_p.R270R|MEIS1_ENST00000560281.2_Silent_p.R272R|MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000495021.2_Silent_p.R207R|MEIS1_ENST00000407092.2_Silent_p.R272R|MEIS1_ENST00000488550.1_Silent_p.R272R	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	272			R -> H (found in a patient with susceptibility to restless legs syndrome; dbSNP:rs61752693). {ECO:0000269|PubMed:19620614}.		angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						ACAAAAAGCGTCACAAAAAGC	0.438																																						ENST00000488550.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(814-816)cgT>cgC		Meis homeobox 1							57.0	61.0	60.0					2																	66739354		2088	4262	6350	SO:0001819	synonymous_variant	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66739354T>C		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.816T>C	2.37:g.66739354T>C						MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000560281.2_Silent_p.R272R|MEIS1_ENST00000495021.2_Silent_p.R207R|MEIS1_ENST00000272369.9_Silent_p.R272R|MEIS1_ENST00000407092.2_Silent_p.R272R|MEIS1_ENST00000398506.2_Silent_p.R270R	p.R272R			O00470	MEIS1_HUMAN			8	1115	+			272		R -> H (found in a patient with susceptibility to restless legs syndrome; also found in unaffected persons, although very rare; dbSNP:rs61752693).			A8MV50	Silent	SNP	ENST00000272369.9	37	c.816T>C	CCDS46309.1																																																																																				0.438	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		16	14	0	0	0	1	0	16	14				
MROH1	727957	broad.mit.edu	37	8	145223234	145223234	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr8:145223234A>G	ENST00000528919.1	+	3	180	c.59A>G	c.(58-60)aAg>aGg	p.K20R	MROH1_ENST00000534366.1_Missense_Mutation_p.K20R|MROH1_ENST00000398656.4_Missense_Mutation_p.K20R|MROH1_ENST00000326134.5_Missense_Mutation_p.K20R|MROH1_ENST00000423230.2_Missense_Mutation_p.K20R	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	20																	ATCACCGATAAGGACCCCCTG	0.667																																						ENST00000528919.1																			0											c.(58-60)aAg>aGg		maestro heat-like repeat family member 1							27.0	32.0	30.0					8																	145223234		2106	4218	6324	SO:0001583	missense	727957							g.chr8:145223234A>G		CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	26958	protein-coding gene	gene with protein product			"""HEAT repeat containing 7A"""	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.59A>G	8.37:g.145223234A>G	ENSP00000435565:p.Lys20Arg					MROH1_ENST00000423230.2_Missense_Mutation_p.K20R|MROH1_ENST00000534366.1_Missense_Mutation_p.K20R|MROH1_ENST00000398656.4_Missense_Mutation_p.K20R|MROH1_ENST00000326134.5_Missense_Mutation_p.K20R	p.K20R	NM_032450.2	NP_115826.2					3	180	+								C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	ENST00000528919.1	37	c.59A>G	CCDS47938.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.027444	0.35797	.	.	ENSG00000179832	ENST00000423230;ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134	T;T;T;T;T	0.67171	2.94;-0.25;-0.25;-0.25;-0.25	5.18	3.86	0.44501	Armadillo-like helical (1);Armadillo-type fold (1);	0.255131	0.29932	U	0.010825	T	0.62024	0.2394	M	0.61703	1.905	0.80722	D	1	B;B;B;B;B	0.27594	0.033;0.022;0.022;0.041;0.182	B;B;B;B;B	0.30029	0.056;0.011;0.011;0.045;0.11	T	0.58205	-0.7677	10	0.42905	T	0.14	.	9.2588	0.37599	0.9037:0.0:0.0963:0.0	.	20;20;20;20;20	Q8NDA8-2;E9PHY8;Q8NDA8;Q8NDA8-4;Q8NDA8-5	.;.;HTR7A_HUMAN;.;.	R	20	ENSP00000388174:K20R;ENSP00000381649:K20R;ENSP00000436636:K20R;ENSP00000435565:K20R;ENSP00000321737:K20R	ENSP00000321737:K20R	K	+	2	0	HEATR7A	145295222	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	3.844000	0.55873	0.770000	0.33336	0.460000	0.39030	AAG		0.667	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450		28	31	0	0	0	1	0	28	31				
PON3	5446	broad.mit.edu	37	7	95019514	95019514	+	Silent	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:95019514G>C	ENST00000265627.5	-	3	163	c.153C>G	c.(151-153)ggC>ggG	p.G51G	PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_Silent_p.G51G|PON3_ENST00000475439.1_5'UTR|PON3_ENST00000427422.1_Silent_p.G51G	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	51					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	TATCTTCAGAGCCACTTTCTG	0.378																																						ENST00000265627.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24						c.(151-153)ggC>ggG		paraoxonase 3							179.0	189.0	186.0					7																	95019514		2203	4300	6503	SO:0001819	synonymous_variant	5446							g.chr7:95019514G>C	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.153C>G	7.37:g.95019514G>C						PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.G51G|PON3_ENST00000475439.1_5'UTR	p.G51G	NM_000940.2	NP_000931.1			STAD - Stomach adenocarcinoma(171;0.0151)		3	163	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)							A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Silent	SNP	ENST00000265627.5	37	c.153C>G	CCDS5639.1																																																																																				0.378	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		101	225	0	0	0	1	0	101	225				
SYNCRIP	10492	broad.mit.edu	37	6	86328538	86328538	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:86328538T>C	ENST00000369622.3	-	10	1778	c.1278A>G	c.(1276-1278)caA>caG	p.Q426Q	SYNCRIP_ENST00000355238.6_Silent_p.Q426Q	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	426	Interaction with APOBEC1.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCACTCACATTTGATTTTTTG	0.308																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1276-1278)caA>caG		synaptotagmin binding, cytoplasmic RNA interacting protein							25.0	25.0	25.0					6																	86328538		2187	4286	6473	SO:0001819	synonymous_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86328538T>C	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1278A>G	6.37:g.86328538T>C						SYNCRIP_ENST00000369622.3_Silent_p.Q426Q	p.Q426Q	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	10	1484	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	426			Interaction with APOBEC1.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Silent	SNP	ENST00000369622.3	37	c.1278A>G	CCDS5005.1																																																																																				0.308	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		7	19	0	0	0	1	0	7	19				
HHIPL2	79802	broad.mit.edu	37	1	222717416	222717416	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:222717416G>A	ENST00000343410.6	-	2	495	c.437C>T	c.(436-438)tCa>tTa	p.S146L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	146					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGAAATGGCTGAGTGACAGTT	0.587																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(436-438)tCa>tTa		HHIP-like 2							83.0	95.0	91.0					1																	222717416		2059	4220	6279	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717416G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.437C>T	1.37:g.222717416G>A	ENSP00000342118:p.Ser146Leu						p.S146L	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	495	-			146					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.437C>T	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550598	0.45383	.	.	ENSG00000143512	ENST00000343410	T	0.47177	0.85	5.59	5.59	0.84812	Folate receptor-like (1);	0.541205	0.21324	N	0.076403	T	0.65091	0.2658	M	0.85859	2.78	0.38593	D	0.950489	P	0.47910	0.902	P	0.53035	0.716	T	0.68704	-0.5338	10	0.37606	T	0.19	-10.4223	14.7556	0.69560	0.0:0.1444:0.8556:0.0	.	146	Q6UWX4	HIPL2_HUMAN	L	146	ENSP00000342118:S146L	ENSP00000342118:S146L	S	-	2	0	HHIPL2	220784039	1.000000	0.71417	0.429000	0.26710	0.238000	0.25445	5.802000	0.69122	2.606000	0.88127	0.591000	0.81541	TCA		0.587	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		70	142	0	0	0	1	0	70	142				
EIF2AK1	27102	broad.mit.edu	37	7	6077129	6077129	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:6077129T>C	ENST00000199389.6	-	11	1404	c.1258A>G	c.(1258-1260)Aca>Gca	p.T420A	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.T296A	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	420	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AAAATTTTTGTTGCAACATTG	0.323																																						ENST00000199389.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27						c.(1258-1260)Aca>Gca		eukaryotic translation initiation factor 2-alpha kinase 1							118.0	107.0	110.0					7																	6077129		2203	4300	6503	SO:0001583	missense	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6077129T>C	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1258A>G	7.37:g.6077129T>C	ENSP00000199389:p.Thr420Ala					EIF2AK1_ENST00000536084.1_Missense_Mutation_p.T296A	p.T420A	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	11	1404	-		Ovarian(82;0.0423)	420			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	c.1258A>G	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	12.54	1.970104	0.34754	.	.	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000426957	T;T	0.22743	2.06;1.94	5.8	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.354612	0.33419	N	0.004938	T	0.18002	0.0432	N	0.16166	0.38	0.29041	N	0.885114	P;P;B	0.44690	0.77;0.841;0.146	P;B;B	0.49887	0.625;0.341;0.105	T	0.03077	-1.1075	10	0.44086	T	0.13	-14.4892	9.87	0.41168	0.2261:0.0:0.0:0.7739	.	296;419;420	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	A	420;296;47	ENSP00000199389:T420A;ENSP00000445784:T296A	ENSP00000199389:T420A	T	-	1	0	EIF2AK1	6043655	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.110000	0.31147	2.216000	0.71823	0.402000	0.26972	ACA		0.323	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		58	173	0	0	0	1	0	58	173				
RPS25	6230	broad.mit.edu	37	11	118888677	118888677	+	Silent	SNP	G	G	A	rs3209457		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:118888677G>A	ENST00000527673.1	-	2	495	c.90C>T	c.(88-90)gcC>gcT	p.A30A	TRAPPC4_ENST00000525303.1_5'Flank|TRAPPC4_ENST00000533632.1_5'Flank|RPS25_ENST00000528547.1_5'UTR|TRAPPC4_ENST00000528230.1_5'Flank|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000533058.1_5'Flank|TRAPPC4_ENST00000434101.2_5'Flank|TRAPPC4_ENST00000359005.4_5'Flank	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	30					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CCTTCTTTTTGGCCTTGCCCC	0.468																																						ENST00000527673.1																			0				endometrium(1)	1						c.(88-90)gcC>gcT		ribosomal protein S25							155.0	164.0	161.0					11																	118888677		2200	4295	6495	SO:0001819	synonymous_variant	6230				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding	g.chr11:118888677G>A	M64716	CCDS8406.1	11q23.3	2011-04-06			ENSG00000118181	ENSG00000118181		"""S ribosomal proteins"""	10413	protein-coding gene	gene with protein product		180465				1748303	Standard	NM_001028		Approved	S25	uc001pun.2	P62851	OTTHUMG00000166350	ENST00000527673.1:c.90C>T	11.37:g.118888677G>A						RPS25_ENST00000528547.1_5'UTR	p.A30A	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	2	495	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	30					B2R4M7|P25111	Silent	SNP	ENST00000527673.1	37	c.90C>T	CCDS8406.1																																																																																				0.468	RPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389324.1	NM_001028		63	128	0	0	0	1	0	63	128				
SORBS1	10580	broad.mit.edu	37	10	97174295	97174295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr10:97174295G>A	ENST00000361941.3	-	7	792	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	SORBS1_ENST00000371245.3_Missense_Mutation_p.R187C|SORBS1_ENST00000353505.5_Missense_Mutation_p.R187C|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Missense_Mutation_p.R247C|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.R256C|SORBS1_ENST00000371227.4_Missense_Mutation_p.R256C|SORBS1_ENST00000371247.2_Missense_Mutation_p.R256C|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.R247C|SORBS1_ENST00000371249.2_Missense_Mutation_p.R224C|SORBS1_ENST00000277982.5_Missense_Mutation_p.R256C	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAGACTCTGCGGAGGTCCTCC	0.637																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(766-768)Cgc>Tgc		sorbin and SH3 domain containing 1							34.0	35.0	35.0					10																	97174295		2202	4297	6499	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97174295G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.766C>T	10.37:g.97174295G>A	ENSP00000355136:p.Arg256Cys					SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371249.2_Missense_Mutation_p.R224C|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.R256C|SORBS1_ENST00000353505.5_Missense_Mutation_p.R187C|SORBS1_ENST00000393949.1_Missense_Mutation_p.R247C|SORBS1_ENST00000371245.3_Missense_Mutation_p.R187C|SORBS1_ENST00000354106.3_Missense_Mutation_p.R247C|SORBS1_ENST00000371227.4_Missense_Mutation_p.R256C|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.R256C|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.R256C|SORBS1_ENST00000371239.1_Intron	p.R256C			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	9	955	-		Colorectal(252;0.0429)	256						Missense_Mutation	SNP	ENST00000361941.3	37	c.766C>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877885	0.72294	.	.	ENSG00000095637	ENST00000371245;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T;T;T	0.47869	1.56;1.41;0.83;1.41;0.83;0.83;1.56;0.83;0.83;0.83	5.54	4.63	0.57726	.	0.700803	0.12501	N	0.463348	T	0.52901	0.1763	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.995;0.987;0.999;0.983;0.999	P;P;P;B;P;B;P	0.59221	0.854;0.731;0.59;0.401;0.736;0.288;0.851	T	0.55023	-0.8205	10	0.72032	D	0.01	1.0744	15.4621	0.75366	0.0:0.139:0.861:0.0	.	454;224;256;224;187;256;256	B7Z9B7;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66-3;Q9BX66;Q9BX66-2	.;.;.;.;.;SRBS1_HUMAN;.	C	187;224;256;256;256;247;187;256;256;247	ENSP00000360291:R187C;ENSP00000360295:R224C;ENSP00000360293:R256C;ENSP00000360271:R256C;ENSP00000360292:R256C;ENSP00000377521:R247C;ENSP00000343998:R187C;ENSP00000355136:R256C;ENSP00000277982:R256C;ENSP00000277984:R247C	ENSP00000277982:R256C	R	-	1	0	SORBS1	97164285	1.000000	0.71417	0.981000	0.43875	0.992000	0.81027	5.235000	0.65348	1.318000	0.45170	0.555000	0.69702	CGC		0.637	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			24	58	0	0	0	1	0	24	58				
DNAH17	8632	broad.mit.edu	37	17	76464798	76464798	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr17:76464798G>A	ENST00000585328.1	-	55	8788	c.8664C>T	c.(8662-8664)atC>atT	p.I2888I	DNAH17_ENST00000389840.5_Silent_p.I2879I|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2879	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGAGGAGATGATGTTCTCCA	0.537																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8635-8637)atC>atT		dynein, axonemal, heavy chain 17							88.0	91.0	90.0					17																	76464798		2019	4182	6201	SO:0001819	synonymous_variant	8632							g.chr17:76464798G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8664C>T	17.37:g.76464798G>A						DNAH17_ENST00000585328.1_Silent_p.I2888I|DNAH17_ENST00000586052.1_5'UTR	p.I2879I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		55	8761	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.8637C>T																																																																																					0.537	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		28	61	0	0	0	1	0	28	61				
EPS8L3	79574	broad.mit.edu	37	1	110294291	110294291	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:110294291G>A	ENST00000361965.4	-	16	1654	c.1548C>T	c.(1546-1548)ggC>ggT	p.G516G	EPS8L3_ENST00000361852.4_Silent_p.G486G|EPS8L3_ENST00000369805.3_Silent_p.G517G|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	516						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGGGTGACTGGCCCTGGGTCC	0.622																																						ENST00000369805.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1549-1551)ggC>ggT		EPS8-like 3							50.0	56.0	54.0					1																	110294291		2203	4300	6503	SO:0001819	synonymous_variant	79574					cytoplasm	protein binding	g.chr1:110294291G>A	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1548C>T	1.37:g.110294291G>A						RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.G486G|EPS8L3_ENST00000361965.4_Silent_p.G516G	p.G517G	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	16	1780	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	516					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Silent	SNP	ENST00000361965.4	37	c.1551C>T	CCDS814.1																																																																																				0.622	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		33	44	0	0	0	1	0	33	44				
SALL3	27164	broad.mit.edu	37	18	76754297	76754297	+	Missense_Mutation	SNP	C	C	T	rs377294616		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr18:76754297C>T	ENST00000537592.2	+	2	2306	c.2306C>T	c.(2305-2307)aCg>aTg	p.T769M	SALL3_ENST00000536229.3_Missense_Mutation_p.T636M|SALL3_ENST00000575389.2_Missense_Mutation_p.T769M	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	769					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ATCCCCAACACGCCGCTGCCG	0.637																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1906-1908)aCg>aTg		spalt-like transcription factor 3		C	MET/THR	0,4406		0,0,2203	67.0	62.0	64.0		2306	5.3	1.0	18		64	3,8597	3.0+/-9.4	0,3,4297	no	missense	SALL3	NM_171999.2	81	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	769/1301	76754297	3,13003	2203	4300	6503	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754297C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2306C>T	18.37:g.76754297C>T	ENSP00000441823:p.Thr769Met					SALL3_ENST00000537592.2_Missense_Mutation_p.T769M|SALL3_ENST00000575389.2_Missense_Mutation_p.T769M	p.T636M			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2616	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	769					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1907C>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334728	0.41297	0.0	3.49E-4	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.12147	2.71	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000017	T	0.41558	0.1164	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.974	T	0.35076	-0.9803	10	0.72032	D	0.01	-43.6341	18.9687	0.92707	0.0:1.0:0.0:0.0	.	501;769	F5GXY4;Q9BXA9	.;SALL3_HUMAN	M	769;769;501	ENSP00000441823:T769M	ENSP00000299466:T769M	T	+	2	0	SALL3	74855285	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.755000	0.85180	2.477000	0.83638	0.561000	0.74099	ACG		0.637	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		17	28	0	0	0	1	0	17	28				
DNAJC14	85406	broad.mit.edu	37	12	56222003	56222003	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr12:56222003T>A	ENST00000357606.3	-	3	729	c.440A>T	c.(439-441)aAt>aTt	p.N147I	DNAJC14_ENST00000317269.3_Missense_Mutation_p.N147I|DNAJC14_ENST00000317287.5_Missense_Mutation_p.N147I|RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	147					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGAAGAACCATTTCCTCCCTC	0.483																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(439-441)aAt>aTt		DnaJ (Hsp40) homolog, subfamily C, member 14							115.0	119.0	118.0					12																	56222003		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56222003T>A	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.440A>T	12.37:g.56222003T>A	ENSP00000350223:p.Asn147Ile					DNAJC14_ENST00000317269.3_Missense_Mutation_p.N147I|DNAJC14_ENST00000317287.5_Missense_Mutation_p.N147I	p.N147I			Q6Y2X3	DJC14_HUMAN			3	729	-			147					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.440A>T	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	T	5.381	0.255550	0.10185	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287;ENST00000547445	T;T;T	0.31769	1.48;1.48;1.48	5.27	4.13	0.48395	.	0.410936	0.24625	N	0.036926	T	0.15869	0.0382	N	0.08118	0	0.09310	N	0.999992	B;B	0.17268	0.012;0.021	B;B	0.18871	0.023;0.023	T	0.17077	-1.0381	10	0.87932	D	0	-1.5277	7.8117	0.29234	0.0:0.0942:0.0:0.9058	.	147;147	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	I	147	ENSP00000350223:N147I;ENSP00000316240:N147I;ENSP00000317500:N147I	ENSP00000316240:N147I	N	-	2	0	DNAJC14	54508270	0.181000	0.23161	0.850000	0.33497	0.088000	0.18126	1.932000	0.40143	0.967000	0.38186	0.528000	0.53228	AAT		0.483	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		91	161	0	0	0	1	0	91	161				
DENND4B	9909	broad.mit.edu	37	1	153905961	153905961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:153905961C>T	ENST00000361217.4	-	20	3746	c.3328G>A	c.(3328-3330)Gag>Aag	p.E1110K	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1110	Ser-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGGCTACCTCGGAGGCAGTG	0.647																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(3328-3330)Gag>Aag		DENN/MADD domain containing 4B							14.0	16.0	15.0					1																	153905961		1874	4039	5913	SO:0001583	missense	9909							g.chr1:153905961C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3328G>A	1.37:g.153905961C>T	ENSP00000354597:p.Glu1110Lys						p.E1110K	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		20	3746	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1110			Ser-rich.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.3328G>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512625	0.64522	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.08720	3.16;3.06	5.17	5.17	0.71159	.	0.179477	0.47852	D	0.000220	T	0.03136	0.0092	N	0.24115	0.695	0.44424	D	0.997348	D	0.56968	0.978	B	0.38296	0.27	T	0.53837	-0.8382	10	0.37606	T	0.19	-22.6786	17.5946	0.88007	0.0:1.0:0.0:0.0	.	1110	O75064	DEN4B_HUMAN	K	1110;1121	ENSP00000354597:E1110K;ENSP00000357635:E1121K	ENSP00000354597:E1110K	E	-	1	0	DENND4B	152172585	0.998000	0.40836	0.991000	0.47740	0.582000	0.36321	5.085000	0.64468	2.686000	0.91538	0.455000	0.32223	GAG		0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		10	19	0	0	0	1	0	10	19				
PRKDC	5591	broad.mit.edu	37	8	48845609	48845609	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr8:48845609G>C	ENST00000314191.2	-	16	1803	c.1747C>G	c.(1747-1749)Ctt>Gtt	p.L583V	PRKDC_ENST00000338368.3_Missense_Mutation_p.L583V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	583					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGTATTTCAAGTGTAAGATCC	0.299								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(1747-1749)Ctt>Gtt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							38.0	34.0	35.0					8																	48845609		1802	4047	5849	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48845609G>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.1747C>G	8.37:g.48845609G>C	ENSP00000313420:p.Leu583Val					PRKDC_ENST00000338368.3_Missense_Mutation_p.L583V|PRKDC_ENST00000523565.1_5'UTR	p.L583V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			16	1803	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	583					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.1747C>G		.	.	.	.	.	.	.	.	.	.	G	0.254	-1.004587	0.02112	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.64803	-0.12;4.46	6.07	3.2	0.36748	Armadillo-type fold (1);	0.080756	0.49305	D	0.000147	T	0.34395	0.0896	.	.	.	0.31968	N	0.607481	B;B;B	0.19200	0.012;0.034;0.034	B;B;B	0.18871	0.023;0.021;0.021	T	0.36625	-0.9740	9	0.02654	T	1	.	8.8688	0.35303	0.1489:0.1896:0.6615:0.0	.	583;583;583	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	V	583	ENSP00000313420:L583V;ENSP00000345182:L583V	ENSP00000313420:L583V	L	-	1	0	PRKDC	49008162	0.995000	0.38212	0.973000	0.42090	0.167000	0.22549	1.969000	0.40510	0.907000	0.36646	-0.140000	0.14226	CTT		0.299	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		8	28	0	0	0	1	0	8	28				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	284802							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	59	0	0	0	1	0	6	59				
DCLK1	9201	broad.mit.edu	37	13	36700037	36700037	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr13:36700037G>A	ENST00000360631.3	-	2	449	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	DCLK1_ENST00000379892.4_Missense_Mutation_p.R80W|DCLK1_ENST00000255448.4_Missense_Mutation_p.R80W			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	80	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GATCGGAACCGGTCTGGGGAG	0.507																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(238-240)Cgg>Tgg		doublecortin-like kinase 1							110.0	99.0	103.0					13																	36700037		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700037G>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.238C>T	13.37:g.36700037G>A	ENSP00000353846:p.Arg80Trp					DCLK1_ENST00000360631.3_Missense_Mutation_p.R80W|DCLK1_ENST00000379892.4_Missense_Mutation_p.R80W	p.R80W	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	449	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	80			Doublecortin 1.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.238C>T		.	.	.	.	.	.	.	.	.	.	G	20.4	3.984298	0.74474	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.93076	-3.16;-3.16;-3.16	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.97461	0.9169	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98121	1.0425	10	0.87932	D	0	.	14.5835	0.68308	0.0:0.0:0.8541:0.1459	.	80	O15075-2	.	W	80	ENSP00000255448:R80W;ENSP00000353846:R80W;ENSP00000369222:R80W	ENSP00000255448:R80W	R	-	1	2	DCLK1	35598037	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.326000	0.52037	2.671000	0.90904	0.650000	0.86243	CGG		0.507	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		40	122	0	0	0	1	0	40	122				
EPHA7	2045	broad.mit.edu	37	6	93956564	93956564	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:93956564T>A	ENST00000369303.4	-	15	2856	c.2672A>T	c.(2671-2673)gAc>gTc	p.D891V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	891	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AATCATTTTGTCTAGAATTCC	0.433																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2671-2673)gAc>gTc		EPH receptor A7							138.0	131.0	133.0					6																	93956564		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93956564T>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2672A>T	6.37:g.93956564T>A	ENSP00000358309:p.Asp891Val						p.D891V	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	15	2856	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	891			Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2672A>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.693504	0.68386	.	.	ENSG00000135333	ENST00000369303	T	0.61510	0.1	5.74	5.74	0.90152	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63390	0.2507	L	0.45228	1.405	0.80722	D	1	D;P;P	0.69078	0.997;0.67;0.54	D;B;B	0.75484	0.986;0.3;0.158	T	0.68481	-0.5397	10	0.87932	D	0	.	16.0417	0.80687	0.0:0.0:0.0:1.0	.	887;886;891	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	V	891	ENSP00000358309:D891V	ENSP00000358309:D891V	D	-	2	0	EPHA7	94013285	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.946000	0.87746	2.198000	0.70561	0.482000	0.46254	GAC		0.433	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			44	112	0	0	0	1	0	44	112				
CDAN1	146059	broad.mit.edu	37	15	43027800	43027800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr15:43027800C>T	ENST00000356231.3	-	4	874	c.851G>A	c.(850-852)gGa>gAa	p.G284E		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	284					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TGTGAGGCTTCCTGTCCGGCT	0.572																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(850-852)gGa>gAa		codanin 1							45.0	48.0	47.0					15																	43027800		2202	4292	6494	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43027800C>T	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.851G>A	15.37:g.43027800C>T	ENSP00000348564:p.Gly284Glu						p.G284E	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	4	874	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	284					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.851G>A	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931987	0.52866	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.86562	-2.14	5.68	5.68	0.88126	.	0.387651	0.29328	N	0.012462	D	0.86171	0.5869	L	0.34521	1.04	0.39728	D	0.971566	D	0.56035	0.974	P	0.53146	0.719	D	0.84179	0.0438	10	0.24483	T	0.36	-10.2267	15.299	0.73931	0.0:1.0:0.0:0.0	.	284	Q8IWY9	CDAN1_HUMAN	E	284;282	ENSP00000348564:G284E	ENSP00000267892:G282E	G	-	2	0	CDAN1	40815092	0.923000	0.31300	0.465000	0.27155	0.254000	0.26022	0.893000	0.28336	2.683000	0.91414	0.561000	0.74099	GGA		0.572	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		62	30	0	0	0	1	0	62	30				
DOCK10	55619	broad.mit.edu	37	2	225662626	225662626	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:225662626T>A	ENST00000258390.7	-	42	4634	c.4567A>T	c.(4567-4569)Atg>Ttg	p.M1523L	DOCK10_ENST00000409592.3_Missense_Mutation_p.M1517L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1523					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAAAAGAGCATGTAGGTATCA	0.408																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(4549-4551)Atg>Ttg		dedicator of cytokinesis 10							135.0	132.0	133.0					2																	225662626		1917	4138	6055	SO:0001583	missense	55619						GTP binding	g.chr2:225662626T>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4567A>T	2.37:g.225662626T>A	ENSP00000258390:p.Met1523Leu					DOCK10_ENST00000258390.7_Missense_Mutation_p.M1523L	p.M1517L			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	42	4662	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1523					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4549A>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	4.450	0.083235	0.08533	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.52057	0.68;0.68	5.95	3.61	0.41365	.	0.102804	0.64402	D	0.000002	T	0.13670	0.0331	N	0.01096	-1.015	0.35367	D	0.788767	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.33979	-0.9847	10	0.02654	T	1	.	6.9035	0.24295	0.2031:0.0:0.1848:0.6121	.	1523;377;1517;185	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	L	1517;1523;61	ENSP00000386694:M1517L;ENSP00000258390:M1523L	ENSP00000258390:M1523L	M	-	1	0	DOCK10	225370870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.324000	0.43831	2.279000	0.76181	0.533000	0.62120	ATG		0.408	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			51	58	0	0	0	1	0	51	58				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			8	184	0	0	0	1	0	8	184				
MAL	4118	broad.mit.edu	37	2	95713749	95713749	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:95713749C>T	ENST00000309988.4	+	2	248	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	MAL_ENST00000353004.3_Missense_Mutation_p.P47S|MAL_ENST00000354078.3_Intron|MAL_ENST00000349807.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	47	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CTCCCTGGTGCCCTGGCCCCT	0.632																																						ENST00000309988.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10						c.(139-141)Ccc>Tcc		mal, T-cell differentiation protein							72.0	66.0	68.0					2																	95713749		2202	4300	6502	SO:0001583	missense	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95713749C>T		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.139C>T	2.37:g.95713749C>T	ENSP00000310880:p.Pro47Ser					MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.P47S|MAL_ENST00000354078.3_Intron	p.P47S	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	2	248	+			47			MARVEL.		Q6FH77	Missense_Mutation	SNP	ENST00000309988.4	37	c.139C>T	CCDS2006.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582677	0.28180	.	.	ENSG00000172005	ENST00000309988;ENST00000353004	T;T	0.43688	1.78;0.94	5.77	4.87	0.63330	Marvel (1);MARVEL-like domain (1);	0.907664	0.09594	N	0.781185	T	0.61949	0.2388	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.969;0.988	T	0.46498	-0.9187	10	0.22109	T	0.4	.	12.6156	0.56576	0.0:0.8336:0.1664:0.0	.	47;47	P21145-2;P21145	.;MAL_HUMAN	S	47	ENSP00000310880:P47S;ENSP00000306568:P47S	ENSP00000310880:P47S	P	+	1	0	MAL	95077476	0.088000	0.21588	0.997000	0.53966	0.298000	0.27526	1.121000	0.31283	1.396000	0.46663	0.561000	0.74099	CCC		0.632	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		37	82	0	0	0	1	0	37	82				
PLA2G3	50487	broad.mit.edu	37	22	31534395	31534395	+	Splice_Site	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr22:31534395A>G	ENST00000215885.3	-	3	901	c.649T>C	c.(649-651)Ttt>Ctt	p.F217L		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	217	Phospholipase A2-like.				acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CATTGCTGAAACCTGCCCCAG	0.602																																						ENST00000215885.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.e3-1		phospholipase A2, group III							65.0	53.0	57.0					22																	31534395		2203	4300	6503	SO:0001630	splice_region_variant	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31534395A>G	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.648-1T>C	22.37:g.31534395A>G							p.F217_splice	NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN			3	901	-			217			Phospholipase A2-like.		O95768	Splice_Site	SNP	ENST00000215885.3	37	c.647_splice	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067492	0.76301	.	.	ENSG00000100078	ENST00000215885	T	0.30448	1.53	5.32	5.32	0.75619	Phospholipase A2 (3);	0.000000	0.85682	D	0.000000	T	0.50360	0.1611	L	0.52759	1.655	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.49808	-0.8900	10	0.56958	D	0.05	-15.3715	15.5719	0.76345	1.0:0.0:0.0:0.0	.	217	Q9NZ20	PA2G3_HUMAN	L	217	ENSP00000215885:F217L	ENSP00000215885:F217L	F	-	1	0	PLA2G3	29864395	1.000000	0.71417	0.993000	0.49108	0.227000	0.25037	8.471000	0.90403	2.142000	0.66516	0.459000	0.35465	TTT		0.602	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715	Missense_Mutation	11	51	0	0	0	1	0	11	51				
SLC27A6	28965	broad.mit.edu	37	5	128365282	128365282	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr5:128365282G>C	ENST00000262462.4	+	9	2575	c.1565G>C	c.(1564-1566)aGa>aCa	p.R522T	SLC27A6_ENST00000506176.1_Missense_Mutation_p.R522T|SLC27A6_ENST00000395266.1_Missense_Mutation_p.R522T			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	522					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TATGAAGGAAGAGCAGGAATG	0.303																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(1564-1566)aGa>aCa		solute carrier family 27 (fatty acid transporter), member 6							49.0	50.0	50.0					5																	128365282		2200	4289	6489	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128365282G>C	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1565G>C	5.37:g.128365282G>C	ENSP00000262462:p.Arg522Thr					SLC27A6_ENST00000395266.1_Missense_Mutation_p.R522T|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R522T	p.R522T			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	9	2575	+		all_cancers(142;0.0483)|Prostate(80;0.055)	522					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.1565G>C	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728261	0.48833	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.48836	0.8;0.8;0.8	4.43	2.03	0.26663	.	0.147063	0.56097	D	0.000036	T	0.67297	0.2878	H	0.97940	4.11	0.25662	N	0.985994	P	0.39903	0.694	P	0.45310	0.476	T	0.65578	-0.6134	9	.	.	.	-20.4553	9.3746	0.38275	0.8648:0.0:0.1352:0.0	.	522	Q9Y2P4	S27A6_HUMAN	T	522	ENSP00000262462:R522T;ENSP00000378684:R522T;ENSP00000421024:R522T	.	R	+	2	0	SLC27A6	128393181	0.999000	0.42202	0.999000	0.59377	0.963000	0.63663	3.059000	0.49947	0.459000	0.27016	-0.781000	0.03364	AGA		0.303	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		23	67	0	0	0	1	0	23	67				
SLC9A3R2	9351	broad.mit.edu	37	16	2086358	2086358	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr16:2086358C>T	ENST00000424542.2	+	3	586	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.R39W|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.R44W|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.R150W	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	150	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						GCTGCGCCCTCGGCTCTGCCA	0.667																																					Ovarian(69;105 1552 17724 23473)	ENST00000424542.2																			0				central_nervous_system(1)|endometrium(1)	2						c.(448-450)Cgg>Tgg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2							17.0	23.0	21.0					16																	2086358		2080	4211	6291	SO:0001583	missense	9351				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding	g.chr16:2086358C>T	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.448C>T	16.37:g.2086358C>T	ENSP00000408005:p.Arg150Trp					SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.R150W|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.R44W|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.R39W|SLC9A3R2_ENST00000565086.1_3'UTR	p.R150W	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN			3	586	+			150			PDZ 2.		D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	c.448C>T	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	c	13.66	2.302643	0.40795	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.57595	0.39;0.39	3.9	1.81	0.25067	PDZ/DHR/GLGF (1);	0.062945	0.64402	D	0.000003	T	0.75117	0.3806	M	0.91140	3.18	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.77918	-0.2408	10	0.87932	D	0	-17.2234	11.4169	0.49958	0.3357:0.6643:0.0:0.0	.	185;150;150	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	W	150	ENSP00000408005:R150W;ENSP00000402857:R150W	ENSP00000408005:R150W	R	+	1	2	SLC9A3R2	2026359	0.926000	0.31397	0.698000	0.30274	0.905000	0.53344	1.998000	0.40796	0.237000	0.21200	0.306000	0.20318	CGG		0.667	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			10	11	0	0	0	1	0	10	11				
ANKRD30A	91074	broad.mit.edu	37	10	37508487	37508487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr10:37508487C>T	ENST00000602533.1	+	34	3778	c.3679C>T	c.(3679-3681)Cat>Tat	p.H1227Y	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.H1346Y|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1227Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1283					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H1227D(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGTTTCAGAACATGCACAAAG	0.373																																						ENST00000374660.1																			1	Substitution - Missense(1)	p.H1227D(1)	lung(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(4036-4038)Cat>Tat		ankyrin repeat domain 30A							71.0	60.0	64.0					10																	37508487		1905	4118	6023	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508487C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3679C>T	10.37:g.37508487C>T	ENSP00000473551:p.His1227Tyr					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H1227Y|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1227Y	p.H1346Y			Q9BXX3	AN30A_HUMAN			40	4135	+			1283					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.4036C>T		.	.	.	.	.	.	.	.	.	.	c	0.011	-1.725494	0.00694	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.14766	2.48;2.48	2.91	-5.82	0.02333	.	.	.	.	.	T	0.09730	0.0239	M	0.64170	1.965	0.09310	N	1	P	0.39940	0.696	B	0.34242	0.178	T	0.01065	-1.1463	9	0.66056	D	0.02	.	1.1735	0.01830	0.2651:0.1657:0.363:0.2061	.	1283	Q9BXX3	AN30A_HUMAN	Y	1227;1346	ENSP00000354432:H1227Y;ENSP00000363792:H1346Y	ENSP00000354432:H1227Y	H	+	1	0	ANKRD30A	37548493	0.025000	0.19082	0.000000	0.03702	0.001000	0.01503	0.047000	0.14056	-2.884000	0.00318	-2.244000	0.00286	CAT		0.373	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		19	51	0	0	0	1	0	19	51				
MARCH6	10299	broad.mit.edu	37	5	10433762	10433762	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr5:10433762C>T	ENST00000274140.5	+	26	2831	c.2699C>T	c.(2698-2700)tCa>tTa	p.S900L	MARCH6_ENST00000449913.2_Missense_Mutation_p.S852L|MARCH6_ENST00000510792.1_Missense_Mutation_p.S598L|MARCH6_ENST00000503788.1_Missense_Mutation_p.S795L	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	900					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AAACAAGGCTCATCTCCACCA	0.443																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2698-2700)tCa>tTa		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							230.0	182.0	198.0					5																	10433762		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10433762C>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2699C>T	5.37:g.10433762C>T	ENSP00000274140:p.Ser900Leu					MARCH6_ENST00000449913.2_Missense_Mutation_p.S852L|MARCH6_ENST00000503788.1_Missense_Mutation_p.S795L|MARCH6_ENST00000510792.1_Missense_Mutation_p.S598L	p.S900L	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			26	2831	+			900					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2699C>T	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182969	0.57800	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.45668	1.9;0.89;1.9;0.89	5.61	5.61	0.85477	.	0.398607	0.29972	N	0.010730	T	0.36635	0.0974	L	0.33485	1.01	0.37981	D	0.933598	B;B;B;B	0.11235	0.004;0.002;0.004;0.002	B;B;B;B	0.16289	0.015;0.003;0.015;0.007	T	0.16394	-1.0404	10	0.25751	T	0.34	-4.6422	19.6512	0.95812	0.0:1.0:0.0:0.0	.	795;852;480;900	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	L	852;795;900;598	ENSP00000414643:S852L;ENSP00000425930:S795L;ENSP00000274140:S900L;ENSP00000424512:S598L	ENSP00000274140:S900L	S	+	2	0	MARCH6	10486762	1.000000	0.71417	0.702000	0.30337	0.426000	0.31534	7.131000	0.77243	2.646000	0.89796	0.563000	0.77884	TCA		0.443	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		23	54	0	0	0	1	0	23	54				
TP53	7157	broad.mit.edu	37	17	7579521	7579521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr17:7579521C>A	ENST00000269305.4	-	4	355	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E56*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E56*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E56*	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	56	Interaction with HRMT1L2.		E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(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)	CCTGGGTCTTCAGTGAACCAT	0.597		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		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"""		27	Whole gene deletion(8)|Substitution - Nonsense(7)|Deletion - Frameshift(6)|Insertion - Frameshift(3)|Substitution - Missense(3)	p.0?(8)|p.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(4)|bone(4)|liver(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|breast(2)|pancreas(2)|large_intestine(1)|stomach(1)|endometrium(1)|lung(1)|skin(1)|prostate(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						c.(166-168)Gaa>Taa	Other conserved DNA damage response genes	tumor protein p53							158.0	159.0	159.0					17																	7579521		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7579521C>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.166G>T	17.37:g.7579521C>A	ENSP00000269305:p.Glu56*	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_ENST00000445888.2_Nonsense_Mutation_p.E56*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E56*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E56*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56*	p.E56*	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)	4	298	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	56		E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.166G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594134	0.46214	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.33	0.2	0.15181	.	1.101100	0.06919	N	0.809088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.0048	3.4906	0.07636	0.0:0.5368:0.2153:0.2479	.	.	.	.	X	56	.	ENSP00000269305:E56X	E	-	1	0	TP53	7520246	0.064000	0.20934	0.001000	0.08648	0.010000	0.07245	0.714000	0.25808	0.099000	0.17552	-0.264000	0.10439	GAA		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		85	197	1	0	9.01214e-43	1	9.93464e-43	85	197				
ADCY3	109	broad.mit.edu	37	2	25061315	25061315	+	Splice_Site	SNP	G	G	A	rs139407103	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:25061315G>A	ENST00000260600.5	-	7	2383	c.1532C>T	c.(1531-1533)tCg>tTg	p.S511L	ADCY3_ENST00000405392.1_Splice_Site_p.S144L	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	511					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ggAACTCACCGAGCCATTGAG	0.547													G|||	2	0.000399361	0.0	0.0	5008	,	,		6519	0.0		0.002	False		,,,				2504	0.0					ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.e7+1		adenylate cyclase 3		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	87.0	79.0	82.0		1532	3.0	1.0	2	dbSNP_134	82	14,8586	10.5+/-38.8	0,14,4286	yes	missense-near-splice	ADCY3	NM_004036.3	145	0,15,6488	AA,AG,GG		0.1628,0.0227,0.1153	benign	511/1145	25061315	15,12991	2203	4300	6503	SO:0001630	splice_region_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25061315G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1533+1C>T	2.37:g.25061315G>A						ADCY3_ENST00000405392.1_Splice_Site_p.S144_splice	p.S511_splice	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			7	2383	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		511					B3KT86|Q53T54|Q9UDB1	Splice_Site	SNP	ENST00000260600.5	37	c.1533_splice	CCDS1715.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	2.768	-0.256326	0.05829	2.27E-4	0.001628	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000454027;ENST00000427849;ENST00000435135	T;D;T;T;T	0.81659	-1.38;-1.52;-1.38;-1.33;-0.86	4.77	2.98	0.34508	.	0.606256	0.16996	N	0.191106	T	0.51210	0.1661	N	0.03608	-0.345	0.27882	N	0.939655	B;B;B	0.20887	0.028;0.049;0.0	B;B;B	0.09377	0.004;0.004;0.001	T	0.45086	-0.9285	10	0.05351	T	0.99	.	6.4512	0.21903	0.3372:0.0:0.6627:0.0	.	511;511;144	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	L	511;144;486;137;267;461	ENSP00000260600:S511L;ENSP00000384484:S144L;ENSP00000410120:S137L;ENSP00000399275:S267L;ENSP00000389799:S461L	ENSP00000260600:S511L	S	-	2	0	ADCY3	24914819	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	2.973000	0.49264	0.609000	0.30018	-0.137000	0.14449	TCG		0.547	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2		Missense_Mutation	12	67	0	0	0	1	0	12	67				
GGT1	2678	broad.mit.edu	37	22	25016313	25016313	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr22:25016313T>A	ENST00000400382.1	+	8	1156	c.401T>A	c.(400-402)gTg>gAg	p.V134E	GGT1_ENST00000248923.4_Missense_Mutation_p.V134E|GGT1_ENST00000406383.2_Missense_Mutation_p.V134E|GGT1_ENST00000400383.1_Missense_Mutation_p.V134E|GGT1_ENST00000400380.1_Missense_Mutation_p.V134E			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	134					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TCGGTGGCGGTGCCTGGGGAG	0.682																																						ENST00000400382.1																			0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(400-402)gTg>gAg		gamma-glutamyltransferase 1	Glutathione(DB00143)						15.0	18.0	17.0					22																	25016313		1850	4090	5940	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25016313T>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.401T>A	22.37:g.25016313T>A	ENSP00000383232:p.Val134Glu					GGT1_ENST00000400380.1_Missense_Mutation_p.V134E|GGT1_ENST00000400383.1_Missense_Mutation_p.V134E|GGT1_ENST00000248923.4_Missense_Mutation_p.V134E|GGT1_ENST00000406383.2_Missense_Mutation_p.V134E	p.V134E			P19440	GGT1_HUMAN			8	1156	+			134					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.401T>A	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	14.14	2.445255	0.43429	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000419133;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383	T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13	3.35	3.35	0.38373	.	0.162693	0.40385	U	0.001105	T	0.62732	0.2452	H	0.99197	4.465	0.53688	D	0.999972	D	0.89917	1.0	D	0.85130	0.997	T	0.76239	-0.3032	10	0.87932	D	0	-19.4574	11.2329	0.48923	0.0:0.0:0.0:1.0	.	134	P19440	GGT1_HUMAN	E	134	ENSP00000248923:V134E;ENSP00000393537:V134E;ENSP00000395271:V134E;ENSP00000383232:V134E;ENSP00000383233:V134E;ENSP00000383231:V134E;ENSP00000385975:V134E	ENSP00000248923:V134E	V	+	2	0	GGT1	23346313	1.000000	0.71417	0.026000	0.17262	0.003000	0.03518	7.616000	0.83018	1.299000	0.44798	0.374000	0.22700	GTG		0.682	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		5	40	0	0	0	1	0	5	40				
DNAJC2	27000	broad.mit.edu	37	7	102982244	102982244	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:102982244G>A	ENST00000379263.3	-	2	472	c.222C>T	c.(220-222)ccC>ccT	p.P74P	DNAJC2_ENST00000249270.7_Silent_p.P74P|DNAJC2_ENST00000412522.1_Silent_p.P74P	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	74					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTTTCAGCATGGGAAACTCTT	0.373																																						ENST00000412522.1																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(220-222)ccC>ccT		DnaJ (Hsp40) homolog, subfamily C, member 2							134.0	123.0	127.0					7																	102982244		1825	4088	5913	SO:0001819	synonymous_variant	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102982244G>A	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.222C>T	7.37:g.102982244G>A						DNAJC2_ENST00000249270.7_Silent_p.P74P|DNAJC2_ENST00000379263.3_Silent_p.P74P	p.P74P			Q99543	DNJC2_HUMAN			2	429	-			74					A4VCI0|Q9BVX1	Silent	SNP	ENST00000379263.3	37	c.222C>T	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	G	9.398	1.077156	0.20227	.	.	ENSG00000105821	ENST00000426036	T	0.21543	2.0	5.01	4.0	0.46444	.	0.161276	0.56097	D	0.000027	T	0.25419	0.0618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01093	-1.1454	7	0.30854	T	0.27	0.0265	9.1845	0.37163	0.1733:0.0:0.8267:0.0	.	.	.	.	L	63	ENSP00000412611:P63L	ENSP00000412611:P63L	P	-	2	0	DNAJC2	102769480	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.824000	0.27379	2.344000	0.79699	0.460000	0.39030	CCA		0.373	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			57	115	0	0	0	1	0	57	115				
CDH1	999	broad.mit.edu	37	16	68849489	68849489	+	Silent	SNP	C	C	T	rs373811706		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr16:68849489C>T	ENST00000261769.5	+	10	1583	c.1392C>T	c.(1390-1392)gtC>gtT	p.V464V	CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Silent_p.V403V	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	464	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTTTTGAGGTCTCTCTCACCA	0.498			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		1	Unknown(1)	p.?(1)	breast(1)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(1390-1392)gtC>gtT		cadherin 1, type 1, E-cadherin (epithelial)		C		0,4396		0,0,2198	170.0	142.0	152.0		1392	4.8	0.1	16		152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH1	NM_004360.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		464/883	68849489	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68849489C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1392C>T	16.37:g.68849489C>T						CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Silent_p.V403V	p.V464V	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	10	1583	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	464			Cadherin 3.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Silent	SNP	ENST00000261769.5	37	c.1392C>T	CCDS10869.1																																																																																				0.498	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		69	66	0	0	0	1	0	69	66				
ABCA2	20	broad.mit.edu	37	9	139905642	139905642	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr9:139905642C>T	ENST00000371605.3	-	37	6063	c.5916G>A	c.(5914-5916)aaG>aaA	p.K1972K	ABCA2_ENST00000265662.5_Silent_p.K1973K|ABCA2_ENST00000341511.6_Silent_p.K1973K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1972					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTCACCAATCTTGGCGTAGT	0.607																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(5917-5919)aaG>aaA		ATP-binding cassette, sub-family A (ABC1), member 2							59.0	63.0	62.0					9																	139905642		1891	4107	5998	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139905642C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.5916G>A	9.37:g.139905642C>T						ABCA2_ENST00000371605.3_Silent_p.K1972K|ABCA2_ENST00000341511.6_Silent_p.K1973K	p.K1973K			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	38	6066	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1972					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.5919G>A																																																																																					0.607	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		34	119	0	0	0	1	0	34	119				
CDYL	9425	broad.mit.edu	37	6	4892155	4892155	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:4892155A>T	ENST00000328908.5	+	4	526	c.395A>T	c.(394-396)aAt>aTt	p.N132I	CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_De_novo_Start_OutOfFrame|CDYL_ENST00000449732.2_De_novo_Start_OutOfFrame|CDYL_ENST00000397588.3_Missense_Mutation_p.N78I			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	132	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TCTCCCAACAATGCTAGGAAA	0.483																																						ENST00000343762.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30								chromodomain protein, Y-like							164.0	175.0	171.0					6																	4892155		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4892155A>T	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.395A>T	6.37:g.4892155A>T	ENSP00000330512:p.Asn132Ile					CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Missense_Mutation_p.N78I|CDYL_ENST00000449732.2_De_novo_Start_OutOfFrame|CDYL_ENST00000328908.5_Missense_Mutation_p.N132I		NM_001143971.1	NP_001137443.1	Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	0	344	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)						A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Translation_Start_Site	SNP	ENST00000328908.5	37			.	.	.	.	.	.	.	.	.	.	A	26.6	4.755209	0.89843	.	.	ENSG00000153046	ENST00000328908;ENST00000397588	T;T	0.57907	0.78;0.37	5.79	5.79	0.91817	.	0.120167	0.56097	D	0.000040	T	0.64136	0.2571	M	0.66939	2.045	0.80722	D	1	P;D	0.89917	0.933;1.0	P;D	0.71184	0.786;0.972	T	0.69254	-0.5193	10	0.87932	D	0	.	15.3199	0.74112	1.0:0.0:0.0:0.0	.	78;132	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	I	132;78	ENSP00000330512:N132I;ENSP00000380718:N78I	ENSP00000330512:N132I	N	+	2	0	CDYL	4837154	1.000000	0.71417	0.950000	0.38849	0.989000	0.77384	4.726000	0.61986	2.205000	0.71048	0.528000	0.53228	AAT		0.483	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		41	45	0	0	0	1	0	41	45				
RNPEP	6051	broad.mit.edu	37	1	201965306	201965306	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:201965306G>C	ENST00000295640.4	+	4	812	c.769G>C	c.(769-771)Gat>Cat	p.D257H	RNPEP_ENST00000367286.3_Intron|RP11-465N4.5_ENST00000608886.1_RNA|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	257					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CTGCCTGATTGATGCTGCCAA	0.493																																					GBM(19;39 479 7473 13131 19462)	ENST00000295640.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(769-771)Gat>Cat		arginyl aminopeptidase (aminopeptidase B)							179.0	165.0	170.0					1																	201965306		2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201965306G>C	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.769G>C	1.37:g.201965306G>C	ENSP00000295640:p.Asp257His					RNPEP_ENST00000367286.3_Intron|RNPEP_ENST00000471105.1_3'UTR	p.D257H	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	4	812	+			257					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.769G>C	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	G	8.363	0.833533	0.16820	.	.	ENSG00000176393	ENST00000295640;ENST00000447312;ENST00000449524	T;T;T	0.02787	4.16;4.16;4.16	5.3	3.41	0.39046	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.586739	0.16794	N	0.199247	T	0.08980	0.0222	L	0.61387	1.9	0.09310	N	0.999998	P;P	0.41978	0.767;0.564	P;P	0.53266	0.722;0.722	T	0.03175	-1.1064	10	0.72032	D	0.01	-2.5654	10.7903	0.46429	0.1597:0.0:0.8403:0.0	.	265;257	Q7RU04;Q9H4A4	.;AMPB_HUMAN	H	257;126;3	ENSP00000295640:D257H;ENSP00000389602:D126H;ENSP00000407614:D3H	ENSP00000295640:D257H	D	+	1	0	RNPEP	200231929	0.148000	0.22702	0.314000	0.25224	0.206000	0.24218	0.875000	0.28079	1.204000	0.43247	0.655000	0.94253	GAT		0.493	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		58	108	0	0	0	1	0	58	108				
MSR1	4481	broad.mit.edu	37	8	16032716	16032716	+	Missense_Mutation	SNP	G	G	T	rs533130717		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr8:16032716G>T	ENST00000262101.5	-	3	318	c.197C>A	c.(196-198)cCt>cAt	p.P66H	MSR1_ENST00000355282.2_Missense_Mutation_p.P66H|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.P66H|MSR1_ENST00000350896.3_Missense_Mutation_p.P66H|MSR1_ENST00000445506.2_Missense_Mutation_p.P84H			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	66					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCCAATGAGAGGGATGAGAAC	0.413																																						ENST00000350896.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(196-198)cCt>cAt		macrophage scavenger receptor 1							126.0	120.0	122.0					8																	16032716		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16032716G>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.197C>A	8.37:g.16032716G>T	ENSP00000262101:p.Pro66His					MSR1_ENST00000381998.4_Missense_Mutation_p.P66H|MSR1_ENST00000262101.5_Missense_Mutation_p.P66H|MSR1_ENST00000445506.2_Missense_Mutation_p.P84H|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Missense_Mutation_p.P66H	p.P66H	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	3	394	-			66					D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.197C>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611690	0.66558	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	D;D;D;D;D	0.91351	-2.44;-2.18;-2.19;-2.44;-2.83	5.34	5.34	0.76211	Macrophage scavenger receptor (1);	0.000000	0.56097	D	0.000029	D	0.94751	0.8306	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.94611	0.7804	10	0.56958	D	0.05	.	14.9277	0.70893	0.0:0.0:1.0:0.0	.	84;66;66;66	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	H	66;66;84;66;66	ENSP00000262100:P66H;ENSP00000262101:P66H;ENSP00000405453:P84H;ENSP00000347430:P66H;ENSP00000371428:P66H	ENSP00000262101:P66H	P	-	2	0	MSR1	16077087	0.581000	0.26741	0.134000	0.22075	0.806000	0.45545	2.237000	0.43061	2.658000	0.90341	0.650000	0.86243	CCT		0.413	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			25	61	1	0	4.26978e-12	1	4.46096e-12	25	61				
SH3BP4	23677	broad.mit.edu	37	2	235951774	235951774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:235951774C>A	ENST00000409212.1	+	4	2868	c.2361C>A	c.(2359-2361)tgC>tgA	p.C787*	SH3BP4_ENST00000392011.2_Nonsense_Mutation_p.C787*|SH3BP4_ENST00000344528.4_Nonsense_Mutation_p.C787*			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	787					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.C787C(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCTTTTTCTGCCGGGCAGAGC	0.582																																						ENST00000409212.1																			1	Substitution - coding silent(1)	p.C787C(1)	endometrium(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(2359-2361)tgC>tgA		SH3-domain binding protein 4							36.0	37.0	37.0					2																	235951774		2203	4300	6503	SO:0001587	stop_gained	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235951774C>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2361C>A	2.37:g.235951774C>A	ENSP00000386862:p.Cys787*					SH3BP4_ENST00000344528.4_Nonsense_Mutation_p.C787*|SH3BP4_ENST00000392011.2_Nonsense_Mutation_p.C787*	p.C787*			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2868	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	787					O95082|Q309A3|Q53QD0|Q53TD1	Nonsense_Mutation	SNP	ENST00000409212.1	37	c.2361C>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	43	9.909633	0.99293	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528;ENST00000538289	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-32.4864	10.41	0.44287	0.0:0.9099:0.0:0.0901	.	.	.	.	X	787;787;787;25	.	ENSP00000340237:C787X	C	+	3	2	SH3BP4	235616513	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	1.596000	0.36718	2.284000	0.76573	0.655000	0.94253	TGC		0.582	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			13	15	1	0	1.67942e-08	1	1.72881e-08	13	15				
AMPH	273	broad.mit.edu	37	7	38431514	38431514	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:38431514G>A	ENST00000356264.2	-	19	1928	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000325590.5_Silent_p.D529D|AMPH_ENST00000428293.2_Silent_p.D529D	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	571					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GAGGAGCCGCGTCCTCGGTGG	0.607																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1711-1713)gaC>gaT		amphiphysin							62.0	59.0	60.0					7																	38431514		2203	4300	6503	SO:0001819	synonymous_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38431514G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1713C>T	7.37:g.38431514G>A						AMPH_ENST00000325590.5_Silent_p.D529D|AMPH_ENST00000428293.2_Silent_p.D529D	p.D571D	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			19	1928	-			571					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	c.1713C>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	5.102	0.204474	0.09704	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.75	-9.39	0.00619	.	.	.	.	.	T	0.27933	0.0688	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31943	-0.9925	4	.	.	.	-4.5548	10.8887	0.46984	0.4664:0.3399:0.1937:0.0	.	.	.	.	C	454	.	.	R	-	1	0	AMPH	38398039	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.456000	0.06754	-2.020000	0.00940	-0.952000	0.02654	CGC		0.607	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		19	96	0	0	0	1	0	19	96				
STPG2	285555	broad.mit.edu	37	4	98480263	98480263	+	Silent	SNP	G	G	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr4:98480263G>T	ENST00000295268.3	-	11	1415	c.1326C>A	c.(1324-1326)tcC>tcA	p.S442S	RP11-681L8.1_ENST00000518105.1_RNA|STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	442																	TTTTCTCCTGGGATATCTGTT	0.279																																						ENST00000295268.3																			0											c.(1324-1326)tcC>tcA		sperm-tail PG-rich repeat containing 2							70.0	79.0	76.0					4																	98480263		2201	4293	6494	SO:0001819	synonymous_variant	285555							g.chr4:98480263G>T	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1326C>A	4.37:g.98480263G>T						RP11-681L8.1_ENST00000518105.1_RNA|STPG2_ENST00000506482.1_Intron	p.S442S	NM_174952.2	NP_777612.1					11	1415	-									Silent	SNP	ENST00000295268.3	37	c.1326C>A	CCDS3645.1																																																																																				0.279	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		64	75	1	0	3.8688e-20	1	4.1664e-20	64	75				
HACL1	26061	broad.mit.edu	37	3	15616518	15616518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr3:15616518G>A	ENST00000321169.5	-	10	1242	c.875C>T	c.(874-876)cCt>cTt	p.P292L	HACL1_ENST00000456194.2_Missense_Mutation_p.P265L|HACL1_ENST00000457447.2_Missense_Mutation_p.P266L|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000451445.2_Missense_Mutation_p.P210L	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	292					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						ATATCTTGGAGGCAGTCCAAA	0.343																																						ENST00000321169.5																			0				NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						c.(874-876)cCt>cTt		2-hydroxyacyl-CoA lyase 1							80.0	81.0	81.0					3																	15616518		2203	4300	6503	SO:0001583	missense	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15616518G>A	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.875C>T	3.37:g.15616518G>A	ENSP00000323811:p.Pro292Leu					HACL1_ENST00000435217.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.P266L|HACL1_ENST00000451445.2_Missense_Mutation_p.P210L|HACL1_ENST00000456194.2_Missense_Mutation_p.P265L	p.P292L	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN			10	1242	-			292					B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	37	c.875C>T	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	G	34	5.345608	0.95807	.	.	ENSG00000131373	ENST00000321169;ENST00000451445;ENST00000456194;ENST00000457447	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.34	5.34	0.76211	Thiamine pyrophosphate enzyme, central domain (1);	0.048308	0.85682	D	0.000000	T	0.57169	0.2035	L	0.38649	1.16	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;0.992;0.996	D;P;D;D	0.91635	0.999;0.898;0.943;0.972	T	0.55140	-0.8187	10	0.46703	T	0.11	.	19.407	0.94651	0.0:0.0:1.0:0.0	.	210;266;265;292	B4DXI5;E9PEN4;B4DWI1;Q9UJ83	.;.;.;HACL1_HUMAN	L	292;210;265;266	ENSP00000323811:P292L;ENSP00000403656:P210L;ENSP00000390699:P265L;ENSP00000404883:P266L	ENSP00000323811:P292L	P	-	2	0	HACL1	15591522	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.879000	0.87236	2.649000	0.89929	0.557000	0.71058	CCT		0.343	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260		18	18	0	0	0	1	0	18	18				
DCUN1D2	55208	broad.mit.edu	37	13	114112358	114112358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr13:114112358G>A	ENST00000478244.1	-	7	1048	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	DCUN1D2_ENST00000332592.3_Missense_Mutation_p.R123C	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	256										breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			AAAAGGCTGCGTTTTCCACCT	0.443											OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000332592.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7						c.(367-369)Cgc>Tgc		DCN1, defective in cullin neddylation 1, domain containing 2							233.0	239.0	237.0					13																	114112358		2203	4300	6503	SO:0001583	missense	55208							g.chr13:114112358G>A	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.766C>T	13.37:g.114112358G>A	ENSP00000417706:p.Arg256Cys		OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1455	DCUN1D2_ENST00000478244.1_Missense_Mutation_p.R256C	p.R123C			Q6PH85	DCNL2_HUMAN	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)		5	401	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	256			DCUN1.		Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	ENST00000478244.1	37	c.367C>T	CCDS32013.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350226	0.41599	.	.	ENSG00000150401	ENST00000332592;ENST00000478244	.	.	.	4.79	2.07	0.26955	.	0.053400	0.85682	D	0.000000	T	0.16769	0.0403	N	0.08118	0	0.29081	N	0.882718	D	0.56287	0.975	P	0.46339	0.513	T	0.09250	-1.0683	9	0.59425	D	0.04	.	6.2333	0.20747	0.0737:0.1391:0.6531:0.1341	.	256	Q6PH85	DCNL2_HUMAN	C	123;256	.	ENSP00000330629:R123C	R	-	1	0	DCUN1D2	113160359	1.000000	0.71417	0.000000	0.03702	0.011000	0.07611	7.020000	0.76419	0.098000	0.17522	-0.181000	0.13052	CGC		0.443	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4	NM_018185		28	446	0	0	0	1	0	28	446				
NMI	9111	broad.mit.edu	37	2	152135384	152135384	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:152135384T>C	ENST00000243346.5	-	4	768	c.298A>G	c.(298-300)Ata>Gta	p.I100V		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	100					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CCTTTTTGTATCTCATAAGGA	0.338																																						ENST00000243346.5																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(298-300)Ata>Gta		N-myc (and STAT) interactor							105.0	101.0	102.0					2																	152135384		2203	4299	6502	SO:0001583	missense	9111				inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity	g.chr2:152135384T>C	U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.298A>G	2.37:g.152135384T>C	ENSP00000243346:p.Ile100Val						p.I100V	NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0571)	4	768	-			100					B5BU69|Q53TI8|Q9BVE5	Missense_Mutation	SNP	ENST00000243346.5	37	c.298A>G	CCDS2192.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342741	0.24339	.	.	ENSG00000123609	ENST00000243346	T	0.05717	3.4	5.4	2.12	0.27331	Nucleotide-binding, alpha-beta plait (1);Interferon induced 35kDa, N-terminal (1);	0.239136	0.35772	N	0.002995	T	0.02533	0.0077	N	0.03608	-0.345	0.21220	N	0.999759	B;B	0.09022	0.0;0.002	B;B	0.08055	0.001;0.003	T	0.40156	-0.9578	10	0.52906	T	0.07	-2.1945	4.5288	0.11995	0.0938:0.1519:0.5971:0.1573	.	100;100	B4DQD4;Q13287	.;NMI_HUMAN	V	100	ENSP00000243346:I100V	ENSP00000243346:I100V	I	-	1	0	NMI	151843630	0.992000	0.36948	0.998000	0.56505	0.342000	0.28953	0.106000	0.15354	0.641000	0.30601	-0.202000	0.12741	ATA		0.338	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2	NM_004688		19	51	0	0	0	1	0	19	51				
FUT9	10690	broad.mit.edu	37	6	96651080	96651080	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:96651080A>G	ENST00000302103.5	+	3	375	c.49A>G	c.(49-51)Att>Gtt	p.I17V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	17					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATTGTCTGCATTATCCTGGG	0.423																																					Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(49-51)Att>Gtt		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)							91.0	93.0	92.0					6																	96651080		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651080A>G	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.49A>G	6.37:g.96651080A>G	ENSP00000302599:p.Ile17Val						p.I17V	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	375	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	17					Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.49A>G	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.011847	0.00422	.	.	ENSG00000172461	ENST00000302103	T	0.20738	2.05	5.58	-1.48	0.08745	.	0.407076	0.29314	N	0.012505	T	0.01940	0.0061	N	0.14661	0.345	0.27963	N	0.936695	B	0.18013	0.025	B	0.13407	0.009	T	0.41875	-0.9484	10	0.08381	T	0.77	-3.4396	3.6231	0.08103	0.41:0.0:0.2047:0.3853	.	17	Q9Y231	FUT9_HUMAN	V	17	ENSP00000302599:I17V	ENSP00000302599:I17V	I	+	1	0	FUT9	96757801	0.311000	0.24536	0.752000	0.31206	0.283000	0.27025	-0.082000	0.11304	-0.396000	0.07703	-1.093000	0.02169	ATT		0.423	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		69	119	0	0	0	1	0	69	119				
ANGPTL4	51129	broad.mit.edu	37	19	8435950	8435950	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr19:8435950G>C	ENST00000301455.2	+	5	843	c.672G>C	c.(670-672)tgG>tgC	p.W224C	ANGPTL4_ENST00000393962.2_Missense_Mutation_p.W186C|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.W57C	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	224	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						ATGGAGGCTGGACAGTAATTC	0.587																																						ENST00000301455.2																			0				large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						c.(670-672)tgG>tgC		angiopoietin-like 4							39.0	39.0	39.0					19																	8435950		2203	4300	6503	SO:0001583	missense	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8435950G>C	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.672G>C	19.37:g.8435950G>C	ENSP00000301455:p.Trp224Cys					ANGPTL4_ENST00000393962.2_Missense_Mutation_p.W186C|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.W57C	p.W224C	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN			5	843	+			224			Fibrinogen C-terminal.		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	c.672G>C	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737061	0.69304	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.53640	0.61;0.61;0.61	5.08	5.08	0.68730	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.80076	0.4557	H	0.98849	4.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86509	0.1808	10	0.72032	D	0.01	.	11.663	0.51358	0.0865:0.0:0.9135:0.0	.	186;224	A8MY84;Q9BY76	.;ANGL4_HUMAN	C	224;186;57	ENSP00000301455:W224C;ENSP00000377534:W186C;ENSP00000439833:W57C	ENSP00000301455:W224C	W	+	3	0	ANGPTL4	8341950	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.238000	0.95380	2.362000	0.80069	0.650000	0.86243	TGG		0.587	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		10	16	0	0	0	1	0	10	16				
KCTD4	386618	broad.mit.edu	37	13	45768678	45768678	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr13:45768678C>G	ENST00000379108.1	-	1	174	c.25G>C	c.(25-27)Gaa>Caa	p.E9Q	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000405872.1_Missense_Mutation_p.E9Q			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	9					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TTTTCTTTTTCTCTTCTGTTT	0.388																																						ENST00000405872.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						c.(25-27)Gaa>Caa		potassium channel tetramerization domain containing 4							193.0	182.0	185.0					13																	45768678		2203	4300	6503	SO:0001583	missense	386618					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr13:45768678C>G	BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 4"""				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.25G>C	13.37:g.45768678C>G	ENSP00000368402:p.Glu9Gln					KCTD4_ENST00000379108.1_Missense_Mutation_p.E9Q|GTF2F2_ENST00000340473.6_Intron	p.E9Q	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)	2	428	-		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	9					Q5W0P9	Missense_Mutation	SNP	ENST00000379108.1	37	c.25G>C	CCDS9396.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081901	0.36758	.	.	ENSG00000180332	ENST00000379108;ENST00000405872	T;T	0.56611	0.45;0.45	5.5	5.5	0.81552	.	0.051848	0.85682	D	0.000000	T	0.40015	0.1100	N	0.14661	0.345	0.46609	D	0.999121	B	0.22003	0.063	B	0.11329	0.006	T	0.23868	-1.0176	10	0.56958	D	0.05	.	18.7503	0.91812	0.0:1.0:0.0:0.0	.	9	Q8WVF5	KCTD4_HUMAN	Q	9	ENSP00000368402:E9Q;ENSP00000385144:E9Q	ENSP00000368402:E9Q	E	-	1	0	KCTD4	44666678	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.205000	0.77881	2.749000	0.94314	0.585000	0.79938	GAA		0.388	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044757.1			93	160	0	0	0	1	0	93	160				
STX1A	6804	broad.mit.edu	37	7	73118115	73118115	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:73118115C>G	ENST00000222812.3	-	7	536	c.510G>C	c.(508-510)gaG>gaC	p.E170D	STX1A_ENST00000395154.3_Missense_Mutation_p.E170D|STX1A_ENST00000395156.3_Missense_Mutation_p.E170D|STX1A_ENST00000484736.1_5'Flank|STX1A_ENST00000395155.3_Missense_Mutation_p.E170D|WBSCR22_ENST00000423166.2_3'UTR	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	170					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGTTCCCACTCTCCAGCATGT	0.637																																						ENST00000222812.3																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(508-510)gaG>gaC		syntaxin 1A (brain)							123.0	100.0	108.0					7																	73118115		2203	4300	6503	SO:0001583	missense	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73118115C>G		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.510G>C	7.37:g.73118115C>G	ENSP00000222812:p.Glu170Asp					STX1A_ENST00000395156.3_Missense_Mutation_p.E170D|WBSCR22_ENST00000423166.2_3'UTR|STX1A_ENST00000395154.3_Missense_Mutation_p.E170D|STX1A_ENST00000395155.3_Missense_Mutation_p.E170D	p.E170D	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN			7	536	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	170					O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	ENST00000222812.3	37	c.510G>C	CCDS34655.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697692	0.68386	.	.	ENSG00000106089	ENST00000428377;ENST00000222812;ENST00000395156;ENST00000395154;ENST00000395155	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	4.14	4.14	0.48551	t-SNARE (1);	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	L	0.58669	1.825	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.003;0.004;0.001	T	0.51537	-0.8693	10	0.31617	T	0.26	-32.7616	13.9387	0.64041	0.0:1.0:0.0:0.0	.	170;170;170	Q7Z5K3;Q16623-3;Q16623	.;.;STX1A_HUMAN	D	79;170;170;170;170	ENSP00000222812:E170D;ENSP00000378585:E170D;ENSP00000378583:E170D;ENSP00000378584:E170D	ENSP00000222812:E170D	E	-	3	2	STX1A	72756051	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	1.982000	0.40638	2.155000	0.67459	0.305000	0.20034	GAG		0.637	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		50	84	0	0	0	1	0	50	84				
PAX7	5081	broad.mit.edu	37	1	18962744	18962744	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:18962744G>A	ENST00000375375.3	+	4	1063	c.465G>A	c.(463-465)tcG>tcA	p.S155S	PAX7_ENST00000400661.3_Silent_p.S153S|PAX7_ENST00000420770.2_Silent_p.S155S	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	155	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.|Sufficient to mediate interaction with PAXBP1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	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)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TAGTGAGTTCGATTAGCCGCG	0.522			T	FOXO1A	alveolar rhabdomyosarcoma																																	ENST00000420770.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31						c.(463-465)tcG>tcA		paired box 7							143.0	141.0	142.0					1																	18962744		2203	4300	6503	SO:0001819	synonymous_variant	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:18962744G>A	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.465G>A	1.37:g.18962744G>A						PAX7_ENST00000375375.3_Silent_p.S155S|PAX7_ENST00000400661.3_Silent_p.S153S	p.S155S	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	4	548	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	155			Paired.		E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	ENST00000375375.3	37	c.465G>A	CCDS186.1																																																																																				0.522	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		47	100	0	0	0	1	0	47	100				
CXCL6	6372	broad.mit.edu	37	4	74702557	74702557	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr4:74702557G>A	ENST00000226317.5	+	1	344	c.90G>A	c.(88-90)ccG>ccA	p.P30P	CXCL6_ENST00000515050.1_Silent_p.P30P	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	30					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGCTGACGCCGCCGGGGCCCC	0.716																																						ENST00000226317.5																			0				large_intestine(1)|lung(7)	8						c.(88-90)ccG>ccA		chemokine (C-X-C motif) ligand 6							14.0	18.0	17.0					4																	74702557		2187	4279	6466	SO:0001819	synonymous_variant	6372				cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr4:74702557G>A	U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"""Endogenous ligands"""	10643	protein-coding gene	gene with protein product	"""granulocyte chemotactic protein 2"""	138965	"""small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)"", ""chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"""	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.90G>A	4.37:g.74702557G>A						CXCL6_ENST00000515050.1_Silent_p.P30P	p.P30P	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		1	344	+	Breast(15;0.00102)		30					B2R4X3|Q4W5D4	Silent	SNP	ENST00000226317.5	37	c.90G>A	CCDS3560.1																																																																																				0.716	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252283.2	NM_002993		3	56	0	0	0	1	0	3	56				
CEP152	22995	broad.mit.edu	37	15	49059304	49059304	+	Silent	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr15:49059304A>G	ENST00000380950.2	-	17	2420	c.2233T>C	c.(2233-2235)Ttg>Ctg	p.L745L	CEP152_ENST00000325747.5_Silent_p.L652L|CEP152_ENST00000559398.1_5'Flank|CEP152_ENST00000399334.3_Silent_p.L745L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	745					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGAGAGTCAATTCTAGATTA	0.423																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(2233-2235)Ttg>Ctg		centrosomal protein 152kDa							221.0	213.0	216.0					15																	49059304		1937	4131	6068	SO:0001819	synonymous_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49059304A>G	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2233T>C	15.37:g.49059304A>G						CEP152_ENST00000325747.5_Silent_p.L652L|CEP152_ENST00000399334.3_Silent_p.L745L	p.L745L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	17	2420	-		all_lung(180;0.0428)	745					E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	c.2233T>C	CCDS58361.1																																																																																				0.423	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		178	103	0	0	0	1	0	178	103				
BTBD10	84280	broad.mit.edu	37	11	13438772	13438772	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:13438772C>T	ENST00000278174.5	-	5	865	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	BTBD10_ENST00000530907.1_Missense_Mutation_p.R215Q|BTBD10_ENST00000528120.1_Missense_Mutation_p.R159Q|BTBD10_ENST00000532261.1_5'Flank	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	207	BTB.|Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CTCATTGGGTCGTGTAAAGTT	0.378																																						ENST00000278174.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(619-621)cGa>cAa		BTB (POZ) domain containing 10							233.0	212.0	219.0					11																	13438772		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13438772C>T	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.620G>A	11.37:g.13438772C>T	ENSP00000278174:p.Arg207Gln					BTBD10_ENST00000530907.1_Missense_Mutation_p.R215Q|BTBD10_ENST00000528120.1_Missense_Mutation_p.R159Q	p.R207Q	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	5	865	-			207			BTB.		B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.620G>A	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	C	36	5.803534	0.96960	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	T;T;T	0.77750	-1.12;-1.12;-1.12	5.88	5.88	0.94601	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.76494	0.991;0.999;0.998;0.998	B;D;P;P	0.64042	0.446;0.921;0.809;0.809	T	0.78193	-0.2299	10	0.26408	T	0.33	-45.3306	19.8331	0.96643	0.0:1.0:0.0:0.0	.	176;215;207;207	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	Q	207;215;159	ENSP00000278174:R207Q;ENSP00000431186:R215Q;ENSP00000435257:R159Q	ENSP00000278174:R207Q	R	-	2	0	BTBD10	13395348	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.779000	0.95612	0.650000	0.86243	CGA		0.378	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		81	155	0	0	0	1	0	81	155				
SZT2	23334	broad.mit.edu	37	1	43885835	43885835	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:43885835C>T	ENST00000562955.1	+	9	1102	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C	SZT2_ENST00000372442.1_5'Flank	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	368					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCTCAGCACCGCCTATTTAA	0.562																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(1102-1104)Cgc>Tgc		seizure threshold 2 homolog (mouse)							81.0	71.0	74.0					1																	43885835		876	1991	2867	SO:0001583	missense	23334					peroxisome		g.chr1:43885835C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.1102C>T	1.37:g.43885835C>T	ENSP00000457168:p.Arg368Cys						p.R368C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			9	1102	+			368					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.1102C>T	CCDS30694.2																																																																																				0.562	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		4	72	0	0	0	1	0	4	72				
FRA10AC1	118924	broad.mit.edu	37	10	95436422	95436422	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr10:95436422C>T	ENST00000359204.4	-	12	1011	c.814G>A	c.(814-816)Gat>Aat	p.D272N	FRA10AC1_ENST00000460752.1_5'Flank|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.D272N|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.D272N|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.D272N	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	272						nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						AGTAGAGAATCTTCAGATTTC	0.294																																						ENST00000359204.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						c.(814-816)Gat>Aat		fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1							33.0	36.0	35.0					10																	95436422		2193	4260	6453	SO:0001583	missense	118924					nucleus	protein binding	g.chr10:95436422C>T	AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.814G>A	10.37:g.95436422C>T	ENSP00000360488:p.Asp272Asn					FRA10AC1_ENST00000394100.2_Missense_Mutation_p.D272N|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.D272N|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.D272N	p.D272N	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN			12	1011	-			272					C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	ENST00000359204.4	37	c.814G>A	CCDS7430.1	.	.	.	.	.	.	.	.	.	.	C	8.435	0.849505	0.17034	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.24723	1.88;1.85;1.84;1.84	5.0	3.03	0.35002	.	0.643732	0.17203	N	0.183058	T	0.13030	0.0316	N	0.12746	0.255	0.43803	D	0.996354	B	0.02656	0.0	B	0.01281	0.0	T	0.09662	-1.0664	10	0.27082	T	0.32	-3.2721	7.9684	0.30113	0.0:0.837:0.0:0.163	.	272	Q70Z53	F10C1_HUMAN	N	272	ENSP00000360488:D272N;ENSP00000438405:D272N;ENSP00000360484:D272N;ENSP00000377660:D272N	ENSP00000360488:D272N	D	-	1	0	FRA10AC1	95426412	0.986000	0.35501	0.891000	0.34965	0.533000	0.34776	1.366000	0.34193	0.504000	0.28082	0.563000	0.77884	GAT		0.294	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246		14	21	0	0	0	1	0	14	21				
COL22A1	169044	broad.mit.edu	37	8	139606419	139606419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr8:139606419G>A	ENST00000303045.6	-	63	4902	c.4456C>T	c.(4456-4458)Cag>Tag	p.Q1486*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.Q1466*|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1486	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGGCATCTGGGCCAGGAGG	0.582										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4456-4458)Cag>Tag		collagen, type XXII, alpha 1							36.0	40.0	39.0					8																	139606419		2203	4300	6503	SO:0001587	stop_gained	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139606419G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4456C>T	8.37:g.139606419G>A	ENSP00000303153:p.Gln1486*	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Nonsense_Mutation_p.Q1466*|COL22A1_ENST00000341807.4_5'UTR	p.Q1486*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		63	4902	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1486			Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	37	c.4456C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	48	14.052909	0.99777	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	5.92	5.92	0.95590	.	0.000000	0.47852	D	0.000218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	19.3538	0.94402	0.0:0.0:1.0:0.0	.	.	.	.	X	1486;1466;1179	.	ENSP00000303153:Q1486X	Q	-	1	0	COL22A1	139675601	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.430000	0.97488	2.820000	0.97059	0.650000	0.86243	CAG		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		101	78	0	0	0	1	0	101	78				
MTMR2	8898	broad.mit.edu	37	11	95591793	95591793	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:95591793T>C	ENST00000346299.5	-	6	812	c.472A>G	c.(472-474)Att>Gtt	p.I158V	MTMR2_ENST00000409459.1_Missense_Mutation_p.I86V|MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000393223.3_Missense_Mutation_p.I86V|MTMR2_ENST00000352297.7_Missense_Mutation_p.I86V	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	158					cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAATTCCTAATATCCTAGAAA	0.313																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(256-258)Att>Gtt		myotubularin related protein 2							78.0	83.0	82.0					11																	95591793		2201	4296	6497	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95591793T>C	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.472A>G	11.37:g.95591793T>C	ENSP00000345752:p.Ile158Val					MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000352297.7_Missense_Mutation_p.I86V|MTMR2_ENST00000409459.1_Missense_Mutation_p.I86V|MTMR2_ENST00000346299.5_Missense_Mutation_p.I158V	p.I86V	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			8	918	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	158			GRAM.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.256A>G	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.526227	0.44969	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.39	5.39	0.77823	.	0.084540	0.85682	D	0.000000	T	0.77498	0.4139	L	0.46157	1.445	0.48288	D	0.999628	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.74247	-0.3727	10	0.56958	D	0.05	.	10.8618	0.46831	0.0:0.0738:0.0:0.9262	.	158;158	A8K5G2;Q13614	.;MTMR2_HUMAN	V	158;86;86;86;86;141	ENSP00000345752:I158V;ENSP00000376915:I86V;ENSP00000386882:I86V;ENSP00000343737:I86V;ENSP00000396020:I86V	ENSP00000345752:I158V	I	-	1	0	MTMR2	95231441	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	2.962000	0.49176	2.147000	0.66899	0.533000	0.62120	ATT		0.313	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		61	106	0	0	0	1	0	61	106				
ZAP70	7535	broad.mit.edu	37	2	98355850	98355850	+	Silent	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:98355850C>A	ENST00000264972.5	+	14	1964	c.1749C>A	c.(1747-1749)cgC>cgA	p.R583R	ZAP70_ENST00000451498.2_Silent_p.R276R|ZAP70_ENST00000442208.1_Silent_p.R457R|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	583	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGGAGGATCGCCCCGACTTCC	0.657																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1747-1749)cgC>cgA		zeta-chain (TCR) associated protein kinase 70kDa							44.0	42.0	43.0					2																	98355850		2203	4300	6503	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98355850C>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1749C>A	2.37:g.98355850C>A						ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.R457R|ZAP70_ENST00000451498.2_Silent_p.R276R	p.R583R	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			14	1964	+			583			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.1749C>A	CCDS33254.1																																																																																				0.657	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			22	41	1	0	3.62473e-10	1	3.75898e-10	22	41				
CTNND2	1501	broad.mit.edu	37	5	11397249	11397249	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr5:11397249G>A	ENST00000304623.8	-	6	695	c.506C>T	c.(505-507)cCg>cTg	p.P169L	CTNND2_ENST00000359640.2_Missense_Mutation_p.P169L|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.P78L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	169					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGCTGGCCGGATACTGGAA	0.587																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(505-507)cCg>cTg		catenin (cadherin-associated protein), delta 2							79.0	80.0	80.0					5																	11397249		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11397249G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.506C>T	5.37:g.11397249G>A	ENSP00000307134:p.Pro169Leu					CTNND2_ENST00000511377.1_Missense_Mutation_p.P78L|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Missense_Mutation_p.P169L	p.P169L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			6	695	-			169					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.506C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054919	0.75960	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000513598;ENST00000508761	T;T;T	0.76060	-0.93;-0.99;-0.9	5.91	5.91	0.95273	.	0.178818	0.37178	N	0.002205	T	0.65417	0.2689	L	0.34521	1.04	0.80722	D	1	B	0.33748	0.423	B	0.23716	0.048	T	0.63256	-0.6678	10	0.38643	T	0.18	-11.2873	20.2983	0.98569	0.0:0.0:1.0:0.0	.	169	Q9UQB3	CTND2_HUMAN	L	169;169;78;78;155	ENSP00000307134:P169L;ENSP00000352661:P169L;ENSP00000426510:P78L	ENSP00000307134:P169L	P	-	2	0	CTNND2	11450249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.187000	0.94912	2.802000	0.96397	0.655000	0.94253	CCG		0.587	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		44	74	0	0	0	1	0	44	74				
TTN	7273	broad.mit.edu	37	2	179501212	179501212	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:179501212C>G	ENST00000591111.1	-	175	36543	c.36319G>C	c.(36319-36321)Gtt>Ctt	p.V12107L	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4808L|TTN_ENST00000460472.2_Missense_Mutation_p.V4683L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4875L|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V13748L|TTN_ENST00000342992.6_Missense_Mutation_p.V11180L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12107	Ig-like 80.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAAGTTGAACATCAATGATG	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(41242-41244)Gtt>Ctt		titin							97.0	92.0	93.0					2																	179501212		1852	4109	5961	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179501212C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36319G>C	2.37:g.179501212C>G	ENSP00000465570:p.Val12107Leu					TTN_ENST00000359218.5_Missense_Mutation_p.V4808L|TTN_ENST00000460472.2_Missense_Mutation_p.V4683L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12107L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11180L|TTN_ENST00000342175.6_Missense_Mutation_p.V4875L|TTN-AS1_ENST00000585451.1_RNA	p.V13748L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		225	41466	-			12107			Ig-like 93.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.41242G>C		.	.	.	.	.	.	.	.	.	.	C	12.43	1.934854	0.34189	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82453	0.5040	L	0.55743	1.74	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.83119	-0.0119	9	0.87932	D	0	.	19.9446	0.97177	0.0:1.0:0.0:0.0	.	4683;4808;4875;12107	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	11180;4683;4875;4808;4683	ENSP00000343764:V11180L;ENSP00000434586:V4683L;ENSP00000340554:V4875L;ENSP00000352154:V4808L	ENSP00000340554:V4875L	V	-	1	0	TTN	179209457	1.000000	0.71417	0.952000	0.39060	0.123000	0.20343	7.768000	0.85345	2.714000	0.92807	0.644000	0.83932	GTT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	161	0	0	0	1	0	30	161				
FOXS1	2307	broad.mit.edu	37	20	30432595	30432595	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr20:30432595G>A	ENST00000375978.3	-	1	825	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	251					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GCCTGCAGCCGACACTGGTAG	0.617																																						ENST00000375978.3																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(751-753)Cgg>Tgg		forkhead box S1							25.0	27.0	26.0					20																	30432595		2203	4300	6503	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432595G>A	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.751C>T	20.37:g.30432595G>A	ENSP00000365145:p.Arg251Trp						p.R251W	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	825	-			251					Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.751C>T	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059308	0.55325	.	.	ENSG00000179772	ENST00000375978	D	0.94092	-3.35	4.54	4.54	0.55810	.	0.000000	0.44285	D	0.000468	D	0.93311	0.7868	L	0.32530	0.975	0.38527	D	0.948869	D	0.89917	1.0	D	0.64687	0.928	D	0.94043	0.7311	10	0.72032	D	0.01	.	11.2697	0.49131	0.0:0.0:0.8173:0.1827	.	251	O43638	FOXS1_HUMAN	W	251	ENSP00000365145:R251W	ENSP00000365145:R251W	R	-	1	2	FOXS1	29896256	0.954000	0.32549	1.000000	0.80357	0.873000	0.50193	1.946000	0.40283	2.350000	0.79820	0.462000	0.41574	CGG		0.617	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		13	47	0	0	0	1	0	13	47				
OR3A1	4994	broad.mit.edu	37	17	3195526	3195526	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr17:3195526C>T	ENST00000323404.1	-	1	350	c.351G>A	c.(349-351)ctG>ctA	p.L117L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	117					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGGCGGTCAGCAGGAAGCAGT	0.597																																					GBM(20;287 516 18743 28660 36594)	ENST00000323404.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(349-351)ctG>ctA		olfactory receptor, family 3, subfamily A, member 1							88.0	77.0	81.0					17																	3195526		2203	4300	6503	SO:0001819	synonymous_variant	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195526C>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.351G>A	17.37:g.3195526C>T						RP11-64J4.2_ENST00000573491.1_RNA	p.L117L	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN			1	350	-			117					Q4VB06|Q6IFM4	Silent	SNP	ENST00000323404.1	37	c.351G>A	CCDS11023.1																																																																																				0.597	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			40	92	0	0	0	1	0	40	92				
PIK3R4	30849	broad.mit.edu	37	3	130454754	130454754	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr3:130454754G>C	ENST00000356763.3	-	3	1383	c.826C>G	c.(826-828)Caa>Gaa	p.Q276E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTTAGCACTTGTTCAGGGAAA	0.333																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(826-828)Caa>Gaa		phosphoinositide-3-kinase, regulatory subunit 4							120.0	129.0	126.0					3																	130454754		2203	4299	6502	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130454754G>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.826C>G	3.37:g.130454754G>C	ENSP00000349205:p.Gln276Glu						p.Q276E	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			3	1383	-			276			Protein kinase.		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.826C>G	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514402	0.44763	.	.	ENSG00000196455	ENST00000356763	T	0.64085	-0.08	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Armadillo-like helical (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054630	0.85682	D	0.000000	T	0.47544	0.1451	N	0.19112	0.55	0.49299	D	0.99977	B	0.19200	0.034	B	0.23018	0.043	T	0.46190	-0.9209	10	0.05351	T	0.99	-22.0925	20.1553	0.98111	0.0:0.0:1.0:0.0	.	276	Q99570	PI3R4_HUMAN	E	276	ENSP00000349205:Q276E	ENSP00000349205:Q276E	Q	-	1	0	PIK3R4	131937444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.695000	0.84257	2.838000	0.97847	0.591000	0.81541	CAA		0.333	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		44	182	0	0	0	1	0	44	182				
CNPY2	10330	broad.mit.edu	37	12	56712923	56712923	+	5'Flank	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr12:56712923T>C	ENST00000273308.4	-	0	0				PAN2_ENST00000548043.1_Missense_Mutation_p.M1109V|PAN2_ENST00000440411.3_Missense_Mutation_p.M1105V|PAN2_ENST00000257931.5_Missense_Mutation_p.M1108V|PAN2_ENST00000549090.1_Intron|PAN2_ENST00000425394.2_Missense_Mutation_p.M1109V	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2						negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						TTTCGGGGCATATGGAACAGG	0.498																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(3325-3327)Atg>Gtg		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							105.0	96.0	99.0					12																	56712923		2203	4300	6503	SO:0001631	upstream_gene_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56712923T>C	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330		12.37:g.56712923T>C	Exception_encountered					PAN2_ENST00000440411.3_Missense_Mutation_p.M1105V|PAN2_ENST00000548043.1_Missense_Mutation_p.M1109V|PAN2_ENST00000549090.1_Intron|PAN2_ENST00000257931.5_Missense_Mutation_p.M1108V	p.M1109V	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			24	3701	-			1109			Exonuclease.		B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.3325A>G	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414742	0.42817	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.63	5.63	0.86233	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.100158	0.64402	D	0.000002	T	0.25344	0.0616	N	0.04297	-0.235	0.49299	D	0.999778	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.004;0.004;0.006	T	0.08186	-1.0734	10	0.66056	D	0.02	-22.9171	15.1304	0.72517	0.0:0.0:0.0:1.0	.	1108;1105;1109	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	V	1109;1105;1108;1109	ENSP00000401721:M1109V;ENSP00000388231:M1105V;ENSP00000257931:M1108V;ENSP00000449861:M1109V	ENSP00000257931:M1108V	M	-	1	0	PAN2	54999190	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.988000	0.63863	2.279000	0.76181	0.533000	0.62120	ATG		0.498	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		24	55	0	0	0	1	0	24	55				
UTRN	7402	broad.mit.edu	37	6	144779962	144779962	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:144779962A>C	ENST00000367545.3	+	19	2341	c.2341A>C	c.(2341-2343)Aag>Cag	p.K781Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	781	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATCAGAATGGAAGAATGTATC	0.338																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(2341-2343)Aag>Cag		utrophin							61.0	67.0	65.0					6																	144779962		2202	4300	6502	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144779962A>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2341A>C	6.37:g.144779962A>C	ENSP00000356515:p.Lys781Gln						p.K781Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	19	2341	+		Ovarian(120;0.218)	781			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.2341A>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257769	0.39896	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.33865	1.39	5.53	5.53	0.82687	.	0.121611	0.36444	N	0.002597	T	0.17408	0.0418	L	0.32530	0.975	0.80722	D	1	P	0.52577	0.954	B	0.43809	0.432	T	0.02829	-1.1105	10	0.13853	T	0.58	.	15.9613	0.79933	1.0:0.0:0.0:0.0	.	781	P46939	UTRO_HUMAN	Q	781	ENSP00000356515:K781Q	ENSP00000356499:K781Q	K	+	1	0	UTRN	144821655	1.000000	0.71417	0.998000	0.56505	0.212000	0.24457	3.840000	0.55843	2.240000	0.73641	0.477000	0.44152	AAG		0.338	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			36	103	0	0	0	1	0	36	103				
ZNF679	168417	broad.mit.edu	37	7	63726517	63726517	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:63726517C>T	ENST00000421025.1	+	5	775	c.506C>T	c.(505-507)tCa>tTa	p.S169L	ZNF679_ENST00000255746.4_Missense_Mutation_p.S169L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GGCAAATTTTCAAATTCCAAT	0.313																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(505-507)tCa>tTa		zinc finger protein 679							88.0	75.0	79.0					7																	63726517		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63726517C>T	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.506C>T	7.37:g.63726517C>T	ENSP00000416809:p.Ser169Leu					ZNF679_ENST00000255746.4_Missense_Mutation_p.S169L	p.S169L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			5	775	+			169						Missense_Mutation	SNP	ENST00000421025.1	37	c.506C>T	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	C	7.073	0.568708	0.13560	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.30981	1.51;1.51	1.12	1.12	0.20585	Zinc finger, C2H2 (1);	.	.	.	.	T	0.28699	0.0711	M	0.70275	2.135	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.29731	-1.0002	9	0.48119	T	0.1	.	4.3653	0.11222	0.3859:0.6141:0.0:0.0	.	169	Q8IYX0	ZN679_HUMAN	L	169	ENSP00000416809:S169L;ENSP00000255746:S169L	ENSP00000255746:S169L	S	+	2	0	ZNF679	63363952	0.000000	0.05858	0.008000	0.14137	0.327000	0.28475	-0.323000	0.07997	0.540000	0.28808	0.194000	0.17425	TCA		0.313	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		14	25	0	0	0	1	0	14	25				
MED12L	116931	broad.mit.edu	37	3	150903227	150903227	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr3:150903227G>A	ENST00000474524.1	+	11	1643	c.1605G>A	c.(1603-1605)agG>agA	p.R535R	MED12L_ENST00000422248.2_Silent_p.R535R|RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000309237.4_Silent_p.R535R|MED12L_ENST00000273432.4_Silent_p.R395R	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	535						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGAGAAGAGGCAAGCAGAAA	0.478																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1603-1605)agG>agA		mediator complex subunit 12-like							113.0	97.0	102.0					3																	150903227		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150903227G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1605G>A	3.37:g.150903227G>A						MED12L_ENST00000309237.4_Silent_p.R535R|MED12L_ENST00000273432.4_Silent_p.R395R|MED12L_ENST00000422248.2_Silent_p.R535R	p.R535R	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		11	1643	+			535					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.1605G>A	CCDS33876.1																																																																																				0.478	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		20	51	0	0	0	1	0	20	51				
APOB	338	broad.mit.edu	37	2	21233522	21233522	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:21233522A>G	ENST00000233242.1	-	26	6345	c.6218T>C	c.(6217-6219)tTt>tCt	p.F2073S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2073	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCTCAAAAAATGGGAGGTT	0.358																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(6217-6219)tTt>tCt		apolipoprotein B	Atorvastatin(DB01076)						70.0	80.0	77.0					2																	21233522		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233522A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6218T>C	2.37:g.21233522A>G	ENSP00000233242:p.Phe2073Ser						p.F2073S	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	6345	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2073			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6218T>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.376748	0.42105	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01068	5.38	5.14	5.14	0.70334	.	0.000000	0.56097	D	0.000027	T	0.06690	0.0171	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.03673	-1.1014	10	0.87932	D	0	.	14.947	0.71039	1.0:0.0:0.0:0.0	.	2073	P04114	APOB_HUMAN	S	2073	ENSP00000233242:F2073S	ENSP00000233242:F2073S	F	-	2	0	APOB	21087027	1.000000	0.71417	0.906000	0.35671	0.522000	0.34438	9.281000	0.95811	1.924000	0.55735	0.459000	0.35465	TTT		0.358	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			59	102	0	0	0	1	0	59	102				
UBQLN3	50613	broad.mit.edu	37	11	5529987	5529987	+	Missense_Mutation	SNP	C	C	T	rs144033515		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:5529987C>T	ENST00000311659.4	-	2	949	c.802G>A	c.(802-804)Gca>Aca	p.A268T	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	268										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGACTGCGTTAAGCATT	0.517													c|||	1	0.000199681	0.0	0.0	5008	,	,		19924	0.001		0.0	False		,,,				2504	0.0				Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(802-804)Gca>Aca		ubiquilin 3			THR/ALA	0,4402		0,0,2201	122.0	106.0	112.0		802	5.6	1.0	11	dbSNP_134	112	3,8591	3.0+/-9.4	0,3,4294	yes	missense	UBQLN3	NM_017481.2	58	0,3,6495	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	268/656	5529987	3,12993	2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529987C>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.802G>A	11.37:g.5529987C>T	ENSP00000347997:p.Ala268Thr					HBG2_ENST00000380259.2_Intron	p.A268T	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	949	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	268					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.802G>A	CCDS7758.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	21.0	4.086352	0.76642	0.0	3.49E-4	ENSG00000175520	ENST00000311659	T	0.51817	0.69	5.63	5.63	0.86233	.	0.000000	0.45126	D	0.000389	T	0.54159	0.1841	M	0.88181	2.935	0.47094	D	0.999313	P	0.39060	0.657	B	0.30105	0.111	T	0.66396	-0.5934	10	0.87932	D	0	-11.0381	17.5369	0.87834	0.0:1.0:0.0:0.0	.	268	Q9H347	UBQL3_HUMAN	T	268	ENSP00000347997:A268T	ENSP00000347997:A268T	A	-	1	0	UBQLN3	5486563	1.000000	0.71417	0.983000	0.44433	0.971000	0.66376	7.322000	0.79097	2.804000	0.96469	0.586000	0.80456	GCA		0.517	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		70	136	0	0	0	1	0	70	136				
AKAP12	9590	broad.mit.edu	37	6	151672560	151672560	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:151672560T>C	ENST00000253332.1	+	3	3223	c.3034T>C	c.(3034-3036)Tcc>Ccc	p.S1012P	AKAP12_ENST00000402676.2_Missense_Mutation_p.S1012P|AKAP12_ENST00000354675.6_Missense_Mutation_p.S914P|AKAP12_ENST00000359755.5_Missense_Mutation_p.S907P			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1012					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTTAACCGACTCCCCAGACAC	0.577																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(3034-3036)Tcc>Ccc		A kinase (PRKA) anchor protein 12							63.0	58.0	59.0					6																	151672560		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672560T>C	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3034T>C	6.37:g.151672560T>C	ENSP00000253332:p.Ser1012Pro					AKAP12_ENST00000253332.1_Missense_Mutation_p.S1012P|AKAP12_ENST00000359755.5_Missense_Mutation_p.S907P|AKAP12_ENST00000354675.6_Missense_Mutation_p.S914P	p.S1012P	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3274	+		Ovarian(120;0.125)	1012					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.3034T>C	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305052	0.60305	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.16743	2.32;2.32;2.34;2.34	5.27	4.07	0.47477	.	0.182863	0.27151	N	0.020689	T	0.22666	0.0547	M	0.74881	2.28	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;P	0.67548	0.952;0.952;0.853	T	0.08534	-1.0717	10	0.42905	T	0.14	.	10.0914	0.42449	0.2825:0.0:0.0:0.7175	.	907;914;1012	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	P	1012;1012;914;907	ENSP00000384537:S1012P;ENSP00000253332:S1012P;ENSP00000346702:S914P;ENSP00000352794:S907P	ENSP00000253332:S1012P	S	+	1	0	AKAP12	151714253	0.993000	0.37304	0.205000	0.23548	0.966000	0.64601	3.848000	0.55903	0.810000	0.34279	0.379000	0.24179	TCC		0.577	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			3	77	0	0	0	1	0	3	77				
WDR12	55759	broad.mit.edu	37	2	203745631	203745631	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:203745631T>C	ENST00000261015.4	-	13	1973	c.1224A>G	c.(1222-1224)aaA>aaG	p.K408K		NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						AGGAATACAATTTATTGTCTG	0.323																																						ENST00000261015.3																			0				endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						c.(1222-1224)aaA>aaG		WD repeat domain 12							60.0	57.0	58.0					2																	203745631		2203	4298	6501	SO:0001819	synonymous_variant	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203745631T>C	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.1224A>G	2.37:g.203745631T>C							p.K408K	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN			13	1973	-			408			Sufficient for nucleolar localization.			Silent	SNP	ENST00000261015.4	37	c.1224A>G	CCDS2356.1																																																																																				0.323	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		28	23	0	0	0	1	0	28	23				
TRGC2	6967	broad.mit.edu	37	7	38289117	38289117	+	RNA	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:38289117C>A	ENST00000436911.2	-	0	56							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TTTGTTTCAGCAATCGAAGGA	0.358																																						ENST00000436911.2																			0																				146.0	159.0	155.0					7																	38289117		1800	4063	5863			6967							g.chr7:38289117C>A	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38289117C>A														0	56	-									RNA	SNP	ENST00000436911.2	37																																																																																						0.358	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		104	170	1	0	1.95558e-62	1	2.17287e-62	104	170				
WDR76	79968	broad.mit.edu	37	15	44143363	44143363	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr15:44143363G>A	ENST00000263795.6	+	9	1181	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T	WDR76_ENST00000381246.2_Missense_Mutation_p.A307T	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	371										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CTTCTCACCCGCCAATCCGGC	0.458																																						ENST00000263795.6																			0				breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20						c.(1111-1113)Gcc>Acc		WD repeat domain 76							160.0	152.0	155.0					15																	44143363		2198	4298	6496	SO:0001583	missense	79968							g.chr15:44143363G>A	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1111G>A	15.37:g.44143363G>A	ENSP00000263795:p.Ala371Thr					WDR76_ENST00000381246.2_Missense_Mutation_p.A307T	p.A371T	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	9	1181	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	371					A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	c.1111G>A	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	G	8.725	0.915356	0.17907	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.59906	0.23;0.23	5.93	1.96	0.26148	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.366282	0.30068	N	0.010492	T	0.23926	0.0579	N	0.01874	-0.695	0.24408	N	0.994677	B	0.15719	0.014	B	0.19391	0.025	T	0.30357	-0.9981	10	0.05833	T	0.94	-20.812	9.0549	0.36399	0.3142:0.0:0.6858:0.0	.	371	Q9H967	WDR76_HUMAN	T	371;307	ENSP00000263795:A371T;ENSP00000370645:A307T	ENSP00000263795:A371T	A	+	1	0	WDR76	41930655	0.000000	0.05858	0.979000	0.43373	0.990000	0.78478	0.120000	0.15647	0.407000	0.25591	0.655000	0.94253	GCC		0.458	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		9	193	0	0	0	1	0	9	193				
SMR3A	26952	broad.mit.edu	37	4	71227862	71227862	+	Silent	SNP	T	T	G	rs368833417		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr4:71227862T>G	ENST00000226460.4	+	2	126	c.30T>G	c.(28-30)ctT>ctG	p.L10L		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	10						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCTTGGGCCTTTGGGCTCTTG	0.338																																						ENST00000226460.4																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15						c.(28-30)ctT>ctG		submaxillary gland androgen regulated protein 3A							184.0	167.0	173.0					4																	71227862		2203	4297	6500	SO:0001819	synonymous_variant	26952					extracellular region		g.chr4:71227862T>G	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.30T>G	4.37:g.71227862T>G							p.L10L	NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN			2	126	+		all_hematologic(202;0.196)	10						Silent	SNP	ENST00000226460.4	37	c.30T>G	CCDS34000.1																																																																																				0.338	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		60	187	0	0	0	1	0	60	187				
CENPF	1063	broad.mit.edu	37	1	214816433	214816433	+	Silent	SNP	C	C	A	rs200241672		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:214816433C>A	ENST00000366955.3	+	12	4920	c.4752C>A	c.(4750-4752)ctC>ctA	p.L1584L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1680	2 X 96 AA approximate tandem repeats.		Missing. {ECO:0000269|PubMed:7651420}.		cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTCAAGAGCTCGAGCAGTTAT	0.443																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(4750-4752)ctC>ctA		centromere protein F, 350/400kDa							53.0	56.0	55.0					1																	214816433		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214816433C>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4752C>A	1.37:g.214816433C>A							p.L1584L	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	4920	+			1680		Missing.	2 X 96 AA approximate tandem repeats.		Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.4752C>A	CCDS31023.1																																																																																				0.443	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		3	95	1	0	1	1	1	3	95				
ATG13	9776	broad.mit.edu	37	11	46681003	46681003	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:46681003A>G	ENST00000434074.1	+	10	1446	c.757A>G	c.(757-759)Acc>Gcc	p.T253A	ATG13_ENST00000529655.1_Missense_Mutation_p.T253A|ATG13_ENST00000526508.1_Missense_Mutation_p.T253A|ATG13_ENST00000359513.4_Missense_Mutation_p.T253A|ATG13_ENST00000530500.1_Missense_Mutation_p.T174A|ATG13_ENST00000312040.4_Missense_Mutation_p.T253A|ATG13_ENST00000524625.1_Missense_Mutation_p.T253A|ATG13_ENST00000528494.1_Missense_Mutation_p.T253A|ATG13_ENST00000451945.1_Missense_Mutation_p.T253A	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	253					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AGAAGTGTGTACCACCTCTTT	0.433																																						ENST00000434074.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.(757-759)Acc>Gcc		autophagy related 13							102.0	92.0	96.0					11																	46681003		2201	4299	6500	SO:0001583	missense	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46681003A>G	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.757A>G	11.37:g.46681003A>G	ENSP00000400642:p.Thr253Ala					ATG13_ENST00000312040.4_Missense_Mutation_p.T253A|ATG13_ENST00000451945.1_Missense_Mutation_p.T253A|ATG13_ENST00000359513.4_Missense_Mutation_p.T253A|ATG13_ENST00000526508.1_Missense_Mutation_p.T253A|ATG13_ENST00000529655.1_Missense_Mutation_p.T253A|ATG13_ENST00000530500.1_Missense_Mutation_p.T174A|ATG13_ENST00000524625.1_Missense_Mutation_p.T253A|ATG13_ENST00000528494.1_Missense_Mutation_p.T253A	p.T253A	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN			10	1446	+			253					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	c.757A>G	CCDS44582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.95|17.95	3.512708|3.512708	0.64522|0.64522	.|.	.|.	ENSG00000175224|ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494|ENST00000531933	.|.	.|.	.|.	6.02|6.02	4.89|4.89	0.63831|0.63831	.|.	0.043797|.	0.85682|.	N|.	0.000000|.	T|T	0.62134|0.62134	0.2403|0.2403	L|L	0.53249|0.53249	1.67|1.67	0.53005|0.53005	D|D	0.99996|0.99996	B;B;B;B|.	0.23591|.	0.0;0.007;0.088;0.005|.	B;B;B;B|.	0.25405|.	0.001;0.009;0.06;0.004|.	T|T	0.58989|0.58989	-0.7538|-0.7538	9|5	0.33940|.	T|.	0.23|.	-12.9875|-12.9875	12.1005|12.1005	0.53780|0.53780	0.9334:0.0:0.0666:0.0|0.9334:0.0:0.0666:0.0	.|.	174;253;253;253|.	B4DFI4;O75143;E9PQZ8;O75143-2|.	.;ATG13_HUMAN;.;.|.	A|C	253;253;253;253;253;174;253;253;253;253|11	.|.	ENSP00000310321:T253A|.	T|Y	+|+	1|2	0|0	ATG13|ATG13	46637579|46637579	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.984000|0.984000	0.73092|0.73092	5.414000|5.414000	0.66405|0.66405	1.103000|1.103000	0.41568|0.41568	0.528000|0.528000	0.53228|0.53228	ACC|TAC		0.433	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		33	70	0	0	0	1	0	33	70				
TAS1R1	80835	broad.mit.edu	37	1	6638981	6638982	+	Frame_Shift_Ins	INS	-	-	T	rs374006227		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:6638981_6638982insT	ENST00000333172.6	+	6	2056_2057	c.1863_1864insT	c.(1864-1866)ttcfs	p.F622fs	TAS1R1_ENST00000328191.4_3'UTR|ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000351136.3_Frame_Shift_Ins_p.F368fs	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	622					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCCTCTATGGCTTCTTTGGGGA	0.599																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(1861-1866)ggtcttfs		taste receptor, type 1, member 1																																				SO:0001589	frameshift_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6638981_6638982insT		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1865dupT	1.37:g.6638983_6638983dupT	ENSP00000331867:p.Phe622fs					TAS1R1_ENST00000351136.3_Frame_Shift_Ins_p.L368fs|TAS1R1_ENST00000328191.4_3'UTR	p.L622fs	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	2056_2057	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	622					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Frame_Shift_Ins	INS	ENST00000333172.6	37	c.1863_1864insT	CCDS81.1																																																																																				0.599	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			9	108						9	108	---	---	---	---
AHDC1	27245	broad.mit.edu	37	1	27874007	27874008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:27874007_27874008insC	ENST00000247087.5	-	5	5215_5216	c.4619_4620insG	c.(4618-4620)tgcfs	p.C1540fs	AHDC1_ENST00000374011.2_Frame_Shift_Ins_p.C1540fs			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1540							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TAAGGAGTGGGCAGCCATAGCC	0.693																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(4618-4620)tccfs		AT hook, DNA binding motif, containing 1																																				SO:0001589	frameshift_variant	27245						DNA binding	g.chr1:27874007_27874008insC	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4620dupG	1.37:g.27874008_27874008dupC	ENSP00000247087:p.Cys1540fs					AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Frame_Shift_Ins_p.S1540fs	p.S1540fs	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	5587_5588	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1540					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Frame_Shift_Ins	INS	ENST00000247087.5	37	c.4619_4620insG	CCDS30652.1																																																																																				0.693	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			15	55						15	55	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152276467	152276468	+	In_Frame_Ins	INS	-	-	GGA			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:152276467_152276468insGGA	ENST00000368799.1	-	3	10929_10930	c.10894_10895insTCC	c.(10894-10896)cag>cTCCag	p.3631_3632insL	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3631	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGCTGACTGCTGGTGGTGG	0.554									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10894-10896)gtc>TCCgtc		filaggrin																																				SO:0001652	inframe_insertion	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276467_152276468insGGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10894_10895insTCC	1.37:g.152276467_152276468insGGA	ENSP00000357789:p.Gln3631_Gln3632insLeu					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.3631_3632insS	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10929_10930	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3631			Ser-rich.		Q01720|Q5T583|Q9UC71	In_Frame_Ins	INS	ENST00000368799.1	37	c.10894_10895insTCC	CCDS30860.1																																																																																				0.554	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	966						7	966	---	---	---	---
PRR21	643905	broad.mit.edu	37	2	240982117	240982144	+	Frame_Shift_Del	DEL	GTGGGTGAAGAGGCATGGATGAAGGACT	GTGGGTGAAGAGGCATGGATGAAGGACT	-	rs79839275|rs149268542|rs79314166|rs74754936|rs148388067|rs112308001	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:240982117_240982144delGTGGGTGAAGAGGCATGGATGAAGGACT	ENST00000408934.1	-	1	255_282	c.256_283delAGTCCTTCATCCATGCCTCTTCACCCAC	c.(256-285)agtccttcatccatgcctcttcacccacggfs	p.SPSSMPLHPR86fs		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	86	Pro-rich.							p.S88L(2)|p.S86fs*291(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						ACGAAGGGCCGTGGGTGAAGAGGCATGGATGAAGGACTGTGGGTGAAG	0.618																																						ENST00000408934.1																			4	Substitution - Missense(2)|Deletion - Frameshift(2)	p.S88L(2)|p.S86fs*291(2)	upper_aerodigestive_tract(2)|lung(2)	NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						c.(256-285)ggfs		proline rich 21																																				SO:0001589	frameshift_variant	643905							g.chr2:240982117_240982144delGTGGGTGAAGAGGCATGGATGAAGGACT	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.256_283delAGTCCTTCATCCATGCCTCTTCACCCAC	2.37:g.240982117_240982144delGTGGGTGAAGAGGCATGGATGAAGGACT	ENSP00000386166:p.Ser86fs						p.SPSSMPLHPR86fs	NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN			1	255_282	-			86			Pro-rich.			Frame_Shift_Del	DEL	ENST00000408934.1	37	c.256_283delAGTCCTTCATCCATGCCTCTTCACCCAC	CCDS33417.1																																																																																				0.618	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		26	18						26	18	---	---	---	---
USP19	10869	broad.mit.edu	37	3	49149418	49149419	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:49149418_49149419insT	ENST00000398888.2	-	19	2837_2838	c.2519_2520insA	c.(2518-2520)tacfs	p.Y840fs	USP19_ENST00000417901.1_Frame_Shift_Ins_p.Y943fs|USP19_ENST00000453664.1_Frame_Shift_Ins_p.Y931fs|USP19_ENST00000398892.3_Frame_Shift_Ins_p.Y880fs|USP19_ENST00000434032.2_Frame_Shift_Ins_p.Y941fs|USP19_ENST00000398896.1_Frame_Shift_Ins_p.Y648fs|USP19_ENST00000398898.2_Frame_Shift_Ins_p.Y880fs	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	840	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.Y928*(2)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGGAAGGGGTAGCCAATGTT	0.594																																						ENST00000453664.1																			2	Substitution - Nonsense(2)	p.Y928*(2)	upper_aerodigestive_tract(1)|prostate(1)	NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2791-2793)tccfs		ubiquitin specific peptidase 19																																				SO:0001589	frameshift_variant	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49149418_49149419insT	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2520dupA	3.37:g.49149419_49149419dupT	ENSP00000381863:p.Tyr840fs					USP19_ENST00000434032.2_Frame_Shift_Ins_p.S941fs|USP19_ENST00000417901.1_Frame_Shift_Ins_p.S943fs|USP19_ENST00000398888.2_Frame_Shift_Ins_p.S840fs|USP19_ENST00000398892.3_Frame_Shift_Ins_p.S880fs|USP19_ENST00000398896.1_Frame_Shift_Ins_p.S648fs|USP19_ENST00000398898.2_Frame_Shift_Ins_p.S880fs	p.S931fs	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	20	3110_3111	-			840					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Frame_Shift_Ins	INS	ENST00000398888.2	37	c.2792_2793insA	CCDS43090.1																																																																																				0.594	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		7	48						7	48	---	---	---	---
RTP4	64108	broad.mit.edu	37	3	187089105	187089106	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:187089105_187089106delTG	ENST00000259030.2	+	2	795_796	c.685_686delTG	c.(685-687)tgtfs	p.C229fs		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	229					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ACTGAACATCTGTGTCTTTATT	0.421																																						ENST00000259030.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(685-687)tfs		receptor (chemosensory) transporter protein 4																																				SO:0001589	frameshift_variant	64108				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:187089105_187089106delTG	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"""Receptor transporter proteins"""	23992	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 4"""	609350	"""receptor transporter protein 4"""			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.685_686delTG	3.37:g.187089107_187089108delTG	ENSP00000259030:p.Cys229fs						p.C229fs	NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	795_796	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		229					Q9H4F3	Frame_Shift_Del	DEL	ENST00000259030.2	37	c.685_686delTG	CCDS33910.1																																																																																				0.421	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		62	63						62	63	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2416669	2416670	+	Frame_Shift_Ins	INS	-	-	G	rs149919744		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:2416669_2416670insG	ENST00000360876.4	+	15	2169_2170	c.2113_2114insG	c.(2113-2115)cggfs	p.R705fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.R705fs	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GCTGCTGTGGCGGCCCCGGCCT	0.634																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(2113-2115)gccfs		eukaryotic translation initiation factor 3, subunit B																																				SO:0001589	frameshift_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2416669_2416670insG	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.2115dupG	7.37:g.2416671_2416671dupG	ENSP00000354125:p.Arg705fs					EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.A705fs	p.A705fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	15	2169_2170	+		Ovarian(82;0.0253)	705						Frame_Shift_Ins	INS	ENST00000360876.4	37	c.2113_2114insG	CCDS5332.1																																																																																				0.634	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			18	94						18	94	---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30494800	30494801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:30494800_30494801insA	ENST00000222823.4	-	5	853_854	c.328_329insT	c.(328-330)tccfs	p.S110fs	NOD1_ENST00000423334.2_Frame_Shift_Ins_p.S110fs	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	110					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGGGAAGGGGAGAAGCCGATC	0.614																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(328-330)cccfs		nucleotide-binding oligomerization domain containing 1																																				SO:0001589	frameshift_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30494800_30494801insA	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.329dupT	7.37:g.30494801_30494801dupA	ENSP00000222823:p.Ser110fs					NOD1_ENST00000423334.2_Frame_Shift_Ins_p.P110fs	p.P110fs	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			5	853_854	-			110					B4DTU3|Q549U4|Q8IWF5	Frame_Shift_Ins	INS	ENST00000222823.4	37	c.328_329insT	CCDS5427.1																																																																																				0.614	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			25	140						25	140	---	---	---	---
AGFG2	3268	broad.mit.edu	37	7	100159920	100159921	+	Frame_Shift_Ins	INS	-	-	C	rs34537355		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:100159920_100159921insC	ENST00000300176.4	+	7	1038_1039	c.916_917insC	c.(916-918)gcafs	p.A306fs	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	306					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACTCCCCTGGCACCCGCCAGT	0.639																																						ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(916-918)accfs		ArfGAP with FG repeats 2																																				SO:0001589	frameshift_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100159920_100159921insC	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.917dupC	7.37:g.100159921_100159921dupC	ENSP00000300176:p.Ala306fs					AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	p.T306fs	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			7	1038_1039	+			306					O75429|Q96AB9|Q96GL4	Frame_Shift_Ins	INS	ENST00000300176.4	37	c.916_917insC	CCDS5697.1																																																																																				0.639	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		14	124						14	124	---	---	---	---
FAM189A2	9413	broad.mit.edu	37	9	72006640	72006641	+	Frame_Shift_Ins	INS	-	-	G	rs368537542		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:72006640_72006641insG	ENST00000257515.8	+	11	1693_1694	c.1273_1274insG	c.(1273-1275)cgafs	p.R425fs	FAM189A2_ENST00000303068.7_Frame_Shift_Ins_p.R260fs|FAM189A2_ENST00000377216.3_Frame_Shift_Ins_p.R212fs|FAM189A2_ENST00000455972.1_Frame_Shift_Ins_p.R425fs	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	425						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGGGAGGCCCCGAGCCGAGAGG	0.668																																						ENST00000257515.8																			0				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(1273-1275)agcfs		family with sequence similarity 189, member A2																																				SO:0001589	frameshift_variant	9413					integral to membrane		g.chr9:72006640_72006641insG	L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.1274dupG	9.37:g.72006641_72006641dupG	ENSP00000257515:p.Arg425fs					FAM189A2_ENST00000303068.7_Frame_Shift_Ins_p.S260fs|FAM189A2_ENST00000377216.3_Frame_Shift_Ins_p.S212fs|FAM189A2_ENST00000455972.1_Frame_Shift_Ins_p.S425fs	p.S425fs	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN			11	1693_1694	+			425					Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Frame_Shift_Ins	INS	ENST00000257515.8	37	c.1273_1274insG	CCDS6629.1																																																																																				0.668	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	NM_004816		17	69						17	69	---	---	---	---
DFNB31	25861	broad.mit.edu	37	9	117185698	117185699	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:117185698_117185699insC	ENST00000362057.3	-	7	1689_1690	c.1521_1522insG	c.(1519-1524)cagcccfs	p.P508fs	DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.P157fs|DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.P125fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	508					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGCCTGGGGGCTGCCGCGCCT	0.639																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1519-1524)caccccfs		deafness, autosomal recessive 31																																				SO:0001589	frameshift_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117185698_117185699insC	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1522dupG	9.37:g.117185699_117185699dupC	ENSP00000354623:p.Pro508fs					DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.H124fs|DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.H156fs	p.H507fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			7	1689_1690	-			507					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Frame_Shift_Ins	INS	ENST00000362057.3	37	c.1521_1522insG	CCDS6806.1																																																																																				0.639	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		68	243						68	243	---	---	---	---
IER5L	389792	broad.mit.edu	37	9	131939365	131939365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:131939365delC	ENST00000372491.2	-	1	1175	c.967delG	c.(967-969)gccfs	p.A323fs	RP11-247A12.8_ENST00000599172.2_RNA|RP11-247A12.2_ENST00000372490.3_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	323													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		gggggctcggcccccagcccg	0.721																																						ENST00000372491.2																			0											c.(967-969)ccfs		immediate early response 5-like							5.0	7.0	7.0					9																	131939365		1695	3783	5478	SO:0001589	frameshift_variant	389792							g.chr9:131939365delC	BC013070	CCDS43888.1	9q34.11	2013-09-20			ENSG00000188483	ENSG00000188483			23679	protein-coding gene	gene with protein product							Standard	NM_203434		Approved	bA247A12.2	uc010myt.1	Q5T953	OTTHUMG00000020773	ENST00000372491.2:c.967delG	9.37:g.131939365delC	ENSP00000361569:p.Ala323fs					RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	p.A323fs	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	1	1175	-		Ovarian(14;0.0448)|Medulloblastoma(224;0.235)	323					Q6P3E2	Frame_Shift_Del	DEL	ENST00000372491.2	37	c.967delG	CCDS43888.1																																																																																				0.721	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054556.2			16	15						16	15	---	---	---	---
LOC399815	399815	broad.mit.edu	37	10	124654324	124654325	+	RNA	INS	-	-	GTTACTAGTTTGTAACTACACTTTTTTTTTTCAA	rs144762615		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:124654324_124654325insGTTACTAGTTTGTAACTACACTTTTTTTTTTCAA	ENST00000425266.1	+	0	291																											TCTCCCTTCTTGTTACTAGTTT	0.386																																						ENST00000425266.1																			0																																																			399815							g.chr10:124654324_124654325insGTTACTAGTTTGTAACTACACTTTTTTTTTTCAA																													10.37:g.124654324_124654325insGTTACTAGTTTGTAACTACACTTTTTTTTTTCAA														0	291	+									RNA	INS	ENST00000425266.1	37																																																																																						0.386	RP11-564D11.3-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000331659.1			4	7						4	7	---	---	---	---
AMPD3	272	broad.mit.edu	37	11	10500152	10500153	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:10500152_10500153insC	ENST00000396554.3	+	3	669_670	c.328_329insC	c.(328-330)gcafs	p.A110fs	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	101					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GGGCCCCCCGGCAGCCAGTCCG	0.589																																						ENST00000396554.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(328-330)agcfs		adenosine monophosphate deaminase 3																																				SO:0001589	frameshift_variant	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10500152_10500153insC	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.329dupC	11.37:g.10500153_10500153dupC	ENSP00000379802:p.Ala110fs					AMPD3_ENST00000444303.2_Intron	p.S110fs	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	3	669_670	+			101					A0AUX0|B7Z2S2|B7Z763|B7Z877	Frame_Shift_Ins	INS	ENST00000396554.3	37	c.328_329insC	CCDS7802.1																																																																																				0.589	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		50	190						50	190	---	---	---	---
SPTY2D1	144108	broad.mit.edu	37	11	18636375	18636376	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:18636375_18636376insA	ENST00000336349.5	-	3	1680_1681	c.1445_1446insT	c.(1444-1446)ttgfs	p.L482fs	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	482	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CCGGGGGGCCCAAGCCACTCAC	0.589																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(1444-1446)tggfs		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)																																				SO:0001589	frameshift_variant	144108							g.chr11:18636375_18636376insA	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1446dupT	11.37:g.18636377_18636377dupA	ENSP00000337991:p.Leu482fs						p.W482fs	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			3	1680_1681	-			482			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Frame_Shift_Ins	INS	ENST00000336349.5	37	c.1445_1446insT	CCDS31441.1																																																																																				0.589	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		16	102						16	102	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55653610	55653610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:55653610delA	ENST00000449290.2	+	3	515	c.423delA	c.(421-423)ctafs	p.L141fs	TRIM51_ENST00000244891.3_5'UTR	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	141						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AGGAGCTCCTAAAAAAAATGC	0.403																																						ENST00000449290.2																			0											c.(421-423)ctfs		tripartite motif-containing 51				1,23,4240		0,0,1,10,3,2118	50.0	47.0	48.0				0.0	11		48	1,23,8230		0,0,1,8,7,4111	no	codingComplex	SPRYD5	NM_032681.3		0,0,2,18,10,6229	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2908,0.5629,0.3834			55653610	2,46,12470	692	1591	2283	SO:0001589	frameshift_variant	84767					intracellular	zinc ion binding	g.chr11:55653610delA	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.423delA	11.37:g.55653610delA	ENSP00000395086:p.Leu141fs					TRIM51_ENST00000244891.3_5'UTR	p.L141fs	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			3	515	+			141					A6NMG2	Frame_Shift_Del	DEL	ENST00000449290.2	37	c.423delA																																																																																					0.403	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		19	65						19	65	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	230	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(688-693)aag>aa		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546320_11546322delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.690_692delCAA	12.37:g.11546323_11546325delTTG	ENSP00000374013:p.Asn230del					PRB1_ENST00000546254.1_Intron	p.NK230del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	725_727	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.690_692delCAA	CCDS41757.2																																																																																				0.601	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		9	888						9	888	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49431260	49431264	+	Frame_Shift_Del	DEL	CTGGG	CTGGG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:49431260_49431264delCTGGG	ENST00000301067.7	-	34	9874_9878	c.9875_9879delCCCAG	c.(9874-9879)gcccagfs	p.AQ3292fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3292	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AAGACATGGCCTGGGCAGGGCCTGG	0.61																																						ENST00000301067.7																			0											c.(9874-9879)gfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49431260_49431264delCTGGG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9875_9879delCCCAG	12.37:g.49431260_49431264delCTGGG	ENSP00000301067:p.Ala3292fs						p.AQ3292fs	NM_003482.3	NP_003473.3					34	9874_9878	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.9875_9879delCCCAG	CCDS44873.1																																																																																				0.610	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	4						6	4	---	---	---	---
PARP2	10038	broad.mit.edu	37	14	20825824	20825825	+	In_Frame_Ins	INS	-	-	GCG			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr14:20825824_20825825insGCG	ENST00000250416.5	+	16	1647_1648	c.1620_1621insGCG	c.(1621-1623)gca>GCGgca	p.541_541A>AA	PARP2_ENST00000429687.3_In_Frame_Ins_p.528_528A>AA|PARP2_ENST00000527915.1_3'UTR	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	541	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CATTAGGACCAGCAAGTGACAC	0.416								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000250416.5																			0				central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15						c.(1618-1623)cccaag>ccGCGcaag	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2																																				SO:0001652	inframe_insertion	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20825824_20825825insGCG	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	Exception_encountered	14.37:g.20825824_20825825insGCG	ENSP00000250416:p.Ala541dup					PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_In_Frame_Ins_p.527_528PK>PRK	p.540_541PK>PRK	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	16	1647_1648	+	all_cancers(95;0.00092)	all_lung(585;0.235)	540			PARP catalytic.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	In_Frame_Ins	INS	ENST00000250416.5	37	c.1620_1621insGCG	CCDS41910.1																																																																																				0.416	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			44	128						44	128	---	---	---	---
MRPL52	122704	broad.mit.edu	37	14	23299408	23299409	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr14:23299408_23299409insG	ENST00000355151.5	+	3	132_133	c.102_103insG	c.(103-105)gccfs	p.A35fs	MRPL52_ENST00000397505.2_Frame_Shift_Ins_p.A35fs|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000397496.3_Frame_Shift_Ins_p.A34fs|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000557221.1_5'UTR|MRPL52_ENST00000432849.3_Frame_Shift_Ins_p.A34fs	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	35					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		AGGGACTGGCTGCCAACCCCTC	0.594																																						ENST00000355151.5																			0											c.(100-105)gcccaafs		mitochondrial ribosomal protein L52			,,,,,	11,4253		0,11,2121					,,,,,	0.3	1.0			67	49,8205		0,49,4078	no	frameshift,utr-5,utr-5,utr-5,frameshift,frameshift	MRPL52	NM_181307.2,NM_181306.2,NM_181305.2,NM_181304.2,NM_180982.2,NM_178336.2	,,,,,	0,60,6199	A1A1,A1R,RR		0.5937,0.258,0.4793	,,,,,	,,,,,		60,12458				SO:0001589	frameshift_variant	122704				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr14:23299408_23299409insG	AK000450	CCDS9575.1, CCDS9576.1, CCDS41917.1, CCDS41918.1	14q11.2	2012-09-13			ENSG00000172590	ENSG00000172590		"""Mitochondrial ribosomal proteins / large subunits"""	16655	protein-coding gene	gene with protein product		611856				11551941, 11943462	Standard	NM_178336		Approved		uc001wgw.4	Q86TS9	OTTHUMG00000028703	ENST00000355151.5:c.103dupG	14.37:g.23299409_23299409dupG	ENSP00000347277:p.Ala35fs					MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000432849.3_Frame_Shift_Ins_p.Q34fs|MRPL52_ENST00000397496.3_Frame_Shift_Ins_p.Q34fs|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000557221.1_5'UTR|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000397505.2_Frame_Shift_Ins_p.Q35fs	p.Q35fs	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	3	132_133	+	all_cancers(95;9.47e-05)		35					A6NMQ8|A8MXK5|A8MYI6|G3XCN9|Q6NVH8	Frame_Shift_Ins	INS	ENST00000355151.5	37	c.102_103insG	CCDS41917.1																																																																																				0.594	MRPL52-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071657.4	NM_180982		7	183						7	183	---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41814429	41814430	+	Frame_Shift_Ins	INS	-	-	C	rs200954116		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:41814429_41814430insC	ENST00000304330.4	-	20	2877_2878	c.2761_2762insG	c.(2761-2763)gccfs	p.A921fs	RPAP1_ENST00000561603.1_Frame_Shift_Ins_p.A921fs	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	921	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAGTCCCGGGGCAGCCAATATG	0.569																																						ENST00000304330.4																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(2761-2763)cccfs		RNA polymerase II associated protein 1																																				SO:0001589	frameshift_variant	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41814429_41814430insC	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2762dupG	15.37:g.41814430_41814430dupC	ENSP00000306123:p.Ala921fs					RPAP1_ENST00000561603.1_Frame_Shift_Ins_p.P921fs	p.P921fs	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	20	2877_2878	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	921			Leu-rich.		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Frame_Shift_Ins	INS	ENST00000304330.4	37	c.2761_2762insG	CCDS10079.1																																																																																				0.569	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		22	45						22	45	---	---	---	---
BAIAP3	8938	broad.mit.edu	37	16	1389185	1389191	+	Frame_Shift_Del	DEL	GCCAGCA	GCCAGCA	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:1389185_1389191delGCCAGCA	ENST00000324385.5	+	4	503_509	c.345_351delGCCAGCA	c.(343-351)tcgccagcafs	p.SPA115fs	BAIAP3_ENST00000568887.1_Frame_Shift_Del_p.SPA80fs|BAIAP3_ENST00000397489.1_Frame_Shift_Del_p.SPA97fs|BAIAP3_ENST00000562208.1_Frame_Shift_Del_p.SPA80fs|BAIAP3_ENST00000426824.3_Frame_Shift_Del_p.SPA80fs|BAIAP3_ENST00000421665.2_Frame_Shift_Del_p.SPA80fs|BAIAP3_ENST00000397488.2_Frame_Shift_Del_p.SPA97fs	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	115					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCAGTGGCTCGCCAGCACCCCCGGAGC	0.71																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(343-351)tcfs		BAI1-associated protein 3																																				SO:0001589	frameshift_variant	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1389185_1389191delGCCAGCA	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.345_351delGCCAGCA	16.37:g.1389185_1389191delGCCAGCA	ENSP00000324510:p.Ser115fs					BAIAP3_ENST00000426824.3_Frame_Shift_Del_p.SPA80fs|BAIAP3_ENST00000397488.2_Frame_Shift_Del_p.SPA97fs|BAIAP3_ENST00000568887.1_Frame_Shift_Del_p.SPA80fs|BAIAP3_ENST00000562208.1_Frame_Shift_Del_p.SPA80fs|BAIAP3_ENST00000421665.2_Frame_Shift_Del_p.SPA80fs|BAIAP3_ENST00000397489.1_Frame_Shift_Del_p.SPA97fs	p.SPA115fs	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			4	503_509	+		Hepatocellular(780;0.0893)	115					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Frame_Shift_Del	DEL	ENST00000324385.5	37	c.345_351delGCCAGCA	CCDS10434.1																																																																																				0.710	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			6	5						6	5	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21511088	21511089	+	Frame_Shift_Ins	INS	-	-	G	rs1154233		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr18:21511088_21511089insG	ENST00000313654.9	+	65	8740_8741	c.8499_8500insG	c.(8500-8502)agcfs	p.S2834fs	LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.S2778fs|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Frame_Shift_Ins_p.S1225fs|LAMA3_ENST00000587184.1_Frame_Shift_Ins_p.S1169fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2834	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		S -> G (in dbSNP:rs1154233). {ECO:0000269|PubMed:15044476, ECO:0000269|PubMed:8077230, ECO:0000269|Ref.6}.		cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GCGATAGCGGCAGCCCAATTTT	0.411																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(8497-8502)gggcccfs		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21511088_21511089insG	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	Exception_encountered	18.37:g.21511088_21511089insG	ENSP00000324532:p.Ser2834fs					LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.P2778fs|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Frame_Shift_Ins_p.P1169fs|LAMA3_ENST00000269217.6_Frame_Shift_Ins_p.P1225fs	p.P2834fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			65	8740_8741	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2834		S -> G (in dbSNP:rs1154233).	Laminin G-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Ins	INS	ENST00000313654.9	37	c.8499_8500insG	CCDS42419.1																																																																																				0.411	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		8	191						8	191	---	---	---	---
ZNF524	147807	broad.mit.edu	37	19	56113567	56113568	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:56113567_56113568insC	ENST00000591046.1	+	1	323_324	c.89_90insC	c.(88-93)ggccgcfs	p.R31fs	FIZ1_ENST00000592585.1_5'Flank|FIZ1_ENST00000221665.3_5'Flank|ZNF524_ENST00000301073.3_Frame_Shift_Ins_p.R31fs			Q96C55	ZN524_HUMAN	zinc finger protein 524	31					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GTTCCCCGGGGCCGCCGAGGCC	0.683																																						ENST00000591046.1																			0				breast(1)|large_intestine(2)|lung(6)|prostate(1)	10						c.(88-90)gcgfs		zinc finger protein 524																																				SO:0001589	frameshift_variant	147807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56113567_56113568insC	BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"""Zinc fingers, C2H2-type"""	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.91dupC	19.37:g.56113569_56113569dupC	ENSP00000466907:p.Arg31fs					ZNF524_ENST00000301073.3_Frame_Shift_Ins_p.A30fs	p.A30fs			Q96C55	ZN524_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	323_324	+			30					Q6NW31|Q96IL7	Frame_Shift_Ins	INS	ENST00000591046.1	37	c.89_90insC	CCDS12929.1																																																																																				0.683	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457938.1	NM_153219		7	55						7	55	---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23438215	23438215	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:23438215delG	ENST00000248996.4	+	2	999	c.333delG	c.(331-333)acgfs	p.T111fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	111					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TTGCGCTGACGGGCCCCGCTG	0.687																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(331-333)acfs		guanine nucleotide binding protein (G protein), alpha z polypeptide							69.0	76.0	73.0					22																	23438215		2203	4299	6502	SO:0001589	frameshift_variant	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438215delG		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.333delG	22.37:g.23438215delG	ENSP00000248996:p.Thr111fs					RTDR1_ENST00000216036.4_Intron	p.T111fs	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	999	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		111					B2R6C1|Q4QRJ6	Frame_Shift_Del	DEL	ENST00000248996.4	37	c.333delG	CCDS13804.1																																																																																				0.687	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		77	166						77	166	---	---	---	---
NOC2L	26155	broad.mit.edu	37	1	880150	880151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:880150_880151insC	ENST00000327044.6	-	19	2222_2223	c.2173_2174insG	c.(2173-2175)gccfs	p.A725fs		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	725	Asp/Glu-rich (acidic).				apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTCCCCAGGGGCCAGCCCCGCC	0.614																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(2173-2175)cccfs		nucleolar complex associated 2 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	26155					nucleolus	protein binding	g.chr1:880150_880151insC	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.2174dupG	1.37:g.880152_880152dupC	ENSP00000317992:p.Ala725fs						p.P725fs	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	19	2222_2223	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	725			Asp/Glu-rich (acidic).		Q5SVA3|Q9BTN6	Frame_Shift_Ins	INS	ENST00000327044.6	37	c.2173_2174insG	CCDS3.1																																																																																				0.614	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		7	25						7	25	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19408294	19408295	+	Intron	INS	-	-	C	rs75559748|rs67232976	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:19408294_19408295insC	ENST00000375254.3	-	103	15036				UBR4_ENST00000375267.2_Intron|AL137127.1_ENST00000582644.1_RNA|UBR4_ENST00000375226.2_Intron|UBR4_ENST00000429347.2_Intron|UBR4_ENST00000375224.1_Intron|UBR4_ENST00000543981.1_Intron|UBR4_ENST00000375225.3_Frame_Shift_Ins_p.P3fs|UBR4_ENST00000375217.2_Intron	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCTTCCCTGGCCCCATGTCTA	0.545													CCCCC|CCCC|CCCCC|deletion	1850	0.369409	0.3351	0.4236	5008	,	,		18797	0.3611		0.4026	False		,,,				2504	0.3517					ENST00000375225.3																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4-9)ggcaggfs		ubiquitin protein ligase E3 component n-recognin 4																																				SO:0001627	intron_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19408294_19408295insC	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15009-227->G	1.37:g.19408298_19408298dupC						UBR4_ENST00000375226.2_Intron|UBR4_ENST00000375267.2_Intron|UBR4_ENST00000375254.3_Intron|UBR4_ENST00000375217.2_Intron|UBR4_ENST00000375224.1_Intron|UBR4_ENST00000543981.1_Intron|UBR4_ENST00000429347.2_Intron	p.R3fs			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	1	439_440	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	0					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Frame_Shift_Ins	INS	ENST00000375254.3	37	c.6_7insG	CCDS189.1																																																																																				0.545	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		5	4						5	4	---	---	---	---
AHDC1	27245	broad.mit.edu	37	1	27874007	27874008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:27874007_27874008insC	ENST00000247087.5	-	5	5215_5216	c.4619_4620insG	c.(4618-4620)tgcfs	p.C1540fs	AHDC1_ENST00000374011.2_Frame_Shift_Ins_p.C1540fs			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1540							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TAAGGAGTGGGCAGCCATAGCC	0.693																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(4618-4620)tccfs		AT hook, DNA binding motif, containing 1																																				SO:0001589	frameshift_variant	27245						DNA binding	g.chr1:27874007_27874008insC	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4620dupG	1.37:g.27874008_27874008dupC	ENSP00000247087:p.Cys1540fs					AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Frame_Shift_Ins_p.S1540fs	p.S1540fs	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	5587_5588	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1540					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Frame_Shift_Ins	INS	ENST00000247087.5	37	c.4619_4620insG	CCDS30652.1																																																																																				0.693	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			15	55						15	55	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145116193	145116193	+	RNA	DEL	G	G	-	rs66989703|rs372891418	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:145116193delG	ENST00000453618.1	+	0	1279							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGCACTGGCTGGGGCATTCTC	0.428													GGGG|GGGG|GGG|deletion	1833	0.366014	0.3116	0.4294	5008	,	,		69780	0.3502		0.3847	False		,,,				2504	0.3916					ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145116193delG	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145116193delG										O75396	SC22B_HUMAN			0	1279	+								A8K1G0	RNA	DEL	ENST00000453618.1	37																																																																																						0.428	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		4	2						4	2	---	---	---	---
PRR21	643905	broad.mit.edu	37	2	240982117	240982144	+	Frame_Shift_Del	DEL	GTGGGTGAAGAGGCATGGATGAAGGACT	GTGGGTGAAGAGGCATGGATGAAGGACT	-	rs79839275|rs149268542|rs79314166|rs74754936|rs148388067|rs112308001	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:240982117_240982144delGTGGGTGAAGAGGCATGGATGAAGGACT	ENST00000408934.1	-	1	255_282	c.256_283delAGTCCTTCATCCATGCCTCTTCACCCAC	c.(256-285)agtccttcatccatgcctcttcacccacggfs	p.SPSSMPLHPR86fs		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	86	Pro-rich.							p.S88L(2)|p.S86fs*291(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						ACGAAGGGCCGTGGGTGAAGAGGCATGGATGAAGGACTGTGGGTGAAG	0.618																																						ENST00000408934.1																			4	Substitution - Missense(2)|Deletion - Frameshift(2)	p.S88L(2)|p.S86fs*291(2)	upper_aerodigestive_tract(2)|lung(2)	NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						c.(256-285)ggfs		proline rich 21																																				SO:0001589	frameshift_variant	643905							g.chr2:240982117_240982144delGTGGGTGAAGAGGCATGGATGAAGGACT	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.256_283delAGTCCTTCATCCATGCCTCTTCACCCAC	2.37:g.240982117_240982144delGTGGGTGAAGAGGCATGGATGAAGGACT	ENSP00000386166:p.Ser86fs						p.SPSSMPLHPR86fs	NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN			1	255_282	-			86			Pro-rich.			Frame_Shift_Del	DEL	ENST00000408934.1	37	c.256_283delAGTCCTTCATCCATGCCTCTTCACCCAC	CCDS33417.1																																																																																				0.618	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		26	18						26	18	---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14861950	14861951	+	Frame_Shift_Ins	INS	-	-	C	rs199523576		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr3:14861950_14861951insC	ENST00000285046.5	+	1	1482_1483	c.1372_1373insC	c.(1372-1374)tcgfs	p.S458fs	FGD5_ENST00000543601.1_Frame_Shift_Ins_p.S217fs	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	458					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGGTTATGGCTCGAAAGAAGAA	0.653																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1372-1374)gaafs		FYVE, RhoGEF and PH domain containing 5																																				SO:0001589	frameshift_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861950_14861951insC	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1373dupC	3.37:g.14861951_14861951dupC	ENSP00000285046:p.Ser458fs					FGD5_ENST00000543601.1_Frame_Shift_Ins_p.E217fs	p.E458fs	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	1482_1483	+			458					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Frame_Shift_Ins	INS	ENST00000285046.5	37	c.1372_1373insC	CCDS46767.1																																																																																				0.653	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		8	44						8	44	---	---	---	---
RTP4	64108	broad.mit.edu	37	3	187089105	187089106	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr3:187089105_187089106delTG	ENST00000259030.2	+	2	795_796	c.685_686delTG	c.(685-687)tgtfs	p.C229fs		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	229					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ACTGAACATCTGTGTCTTTATT	0.421																																						ENST00000259030.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(685-687)tfs		receptor (chemosensory) transporter protein 4																																				SO:0001589	frameshift_variant	64108				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:187089105_187089106delTG	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"""Receptor transporter proteins"""	23992	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 4"""	609350	"""receptor transporter protein 4"""			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.685_686delTG	3.37:g.187089107_187089108delTG	ENSP00000259030:p.Cys229fs						p.C229fs	NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	795_796	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		229					Q9H4F3	Frame_Shift_Del	DEL	ENST00000259030.2	37	c.685_686delTG	CCDS33910.1																																																																																				0.421	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		62	63						62	63	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2416669	2416670	+	Frame_Shift_Ins	INS	-	-	G	rs149919744		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:2416669_2416670insG	ENST00000360876.4	+	15	2169_2170	c.2113_2114insG	c.(2113-2115)cggfs	p.R705fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.R705fs	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GCTGCTGTGGCGGCCCCGGCCT	0.634																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(2113-2115)gccfs		eukaryotic translation initiation factor 3, subunit B																																				SO:0001589	frameshift_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2416669_2416670insG	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.2115dupG	7.37:g.2416671_2416671dupG	ENSP00000354125:p.Arg705fs					EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.A705fs	p.A705fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	15	2169_2170	+		Ovarian(82;0.0253)	705						Frame_Shift_Ins	INS	ENST00000360876.4	37	c.2113_2114insG	CCDS5332.1																																																																																				0.634	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			18	94						18	94	---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30494800	30494801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:30494800_30494801insA	ENST00000222823.4	-	5	853_854	c.328_329insT	c.(328-330)tccfs	p.S110fs	NOD1_ENST00000423334.2_Frame_Shift_Ins_p.S110fs	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	110					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGGGAAGGGGAGAAGCCGATC	0.614																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(328-330)cccfs		nucleotide-binding oligomerization domain containing 1																																				SO:0001589	frameshift_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30494800_30494801insA	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.329dupT	7.37:g.30494801_30494801dupA	ENSP00000222823:p.Ser110fs					NOD1_ENST00000423334.2_Frame_Shift_Ins_p.P110fs	p.P110fs	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			5	853_854	-			110					B4DTU3|Q549U4|Q8IWF5	Frame_Shift_Ins	INS	ENST00000222823.4	37	c.328_329insT	CCDS5427.1																																																																																				0.614	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			25	140						25	140	---	---	---	---
AGFG2	3268	broad.mit.edu	37	7	100159920	100159921	+	Frame_Shift_Ins	INS	-	-	C	rs34537355		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:100159920_100159921insC	ENST00000300176.4	+	7	1038_1039	c.916_917insC	c.(916-918)gcafs	p.A306fs	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	306					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACTCCCCTGGCACCCGCCAGT	0.639																																						ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(916-918)accfs		ArfGAP with FG repeats 2																																				SO:0001589	frameshift_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100159920_100159921insC	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.917dupC	7.37:g.100159921_100159921dupC	ENSP00000300176:p.Ala306fs					AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR	p.T306fs	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			7	1038_1039	+			306					O75429|Q96AB9|Q96GL4	Frame_Shift_Ins	INS	ENST00000300176.4	37	c.916_917insC	CCDS5697.1																																																																																				0.639	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		14	124						14	124	---	---	---	---
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707|rs139315731		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(148-150)ggc>GGCGGCGGCggc	p.50_50G>GGGG	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	53	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688																																						ENST00000319264.3																			3	Insertion - In frame(2)|Deletion - In frame(1)	p.G49_G50insGGG(2)|p.G50_G52delGGG(1)	large_intestine(1)|prostate(1)|central_nervous_system(1)								c.(145-150)gggcgg>ggGGCGGCGGCgcgg		leucine rich adaptor protein 1-like																																				SO:0001652	inframe_insertion	286343							g.chr9:12775861_12775862insGGCGGCGGC	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.157_165dupGGCGGCGGC	9.37:g.12775862_12775870dupGGCGGCGGC	ENSP00000321026:p.GlyGlyGly53dup					RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	p.49_50GR>GAAAR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN			1	842_843	+			49		Missing.	Gly-rich.		Q5VZX7|Q8N923|Q8NCG2	In_Frame_Ins	INS	ENST00000319264.3	37	c.147_148insGGCGGCGGC	CCDS6473.1																																																																																				0.688	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		3	6						3	6	---	---	---	---
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-	rs200487787	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcgfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													g|G|-|deletion	1256	0.250799	0.2352	0.2061	5008	,	,		15575	0.3968		0.174	False		,,,				2504	0.2321					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1597-1599)gcfs		contactin associated protein-like 3B																																				SO:0001589	frameshift_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43844265delG	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1599delG	9.37:g.43844265delG	ENSP00000366787:p.Ala533fs						p.A533fs	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			10	1992	+			533			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Frame_Shift_Del	DEL	ENST00000377564.3	37	c.1599delG	CCDS55312.1																																																																																				0.542	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			8	32						8	32	---	---	---	---
CTSV	1515	broad.mit.edu	37	9	99797015	99797016	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr9:99797015_99797016insG	ENST00000259470.5	-	7	1146_1147	c.897_898insC	c.(895-900)gtcaaafs	p.K300fs	CTSV_ENST00000538255.1_Frame_Shift_Ins_p.K300fs|CTSV_ENST00000479932.1_5'Flank	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	300					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										TACCTGTTTTTGACGAGCCAAT	0.381																																						ENST00000259470.5																			0											c.(895-900)gtaaaafs		cathepsin V																																				SO:0001589	frameshift_variant	1515							g.chr9:99797015_99797016insG	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.898dupC	9.37:g.99797016_99797016dupG	ENSP00000259470:p.Lys300fs					CTSV_ENST00000538255.1_Frame_Shift_Ins_p.VK299fs	p.VK299fs	NM_001333.3	NP_001324.2					7	1146_1147	-								O60233|Q2TB86|Q5T1U0	Frame_Shift_Ins	INS	ENST00000259470.5	37	c.897_898insC	CCDS6723.1																																																																																				0.381	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		7	179						7	179	---	---	---	---
IER5L	389792	broad.mit.edu	37	9	131939365	131939365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr9:131939365delC	ENST00000372491.2	-	1	1175	c.967delG	c.(967-969)gccfs	p.A323fs	RP11-247A12.8_ENST00000599172.2_RNA|RP11-247A12.2_ENST00000372490.3_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	323													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		gggggctcggcccccagcccg	0.721																																						ENST00000372491.2																			0											c.(967-969)ccfs		immediate early response 5-like							5.0	7.0	7.0					9																	131939365		1695	3783	5478	SO:0001589	frameshift_variant	389792							g.chr9:131939365delC	BC013070	CCDS43888.1	9q34.11	2013-09-20			ENSG00000188483	ENSG00000188483			23679	protein-coding gene	gene with protein product							Standard	NM_203434		Approved	bA247A12.2	uc010myt.1	Q5T953	OTTHUMG00000020773	ENST00000372491.2:c.967delG	9.37:g.131939365delC	ENSP00000361569:p.Ala323fs					RP11-247A12.8_ENST00000599172.2_RNA|RP11-247A12.2_ENST00000372490.3_RNA	p.A323fs	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	1	1175	-		Ovarian(14;0.0448)|Medulloblastoma(224;0.235)	323					Q6P3E2	Frame_Shift_Del	DEL	ENST00000372491.2	37	c.967delG	CCDS43888.1																																																																																				0.721	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054556.2			16	15						16	15	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129902204	129902205	+	Frame_Shift_Del	DEL	TG	TG	-	rs143354291		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr10:129902204_129902205delTG	ENST00000368654.3	-	13	8274_8275	c.7899_7900delCA	c.(7897-7902)cacaaafs	p.HK2633fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2633	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGGTTCTTTGTGTGTGTGTG	0.5																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(7897-7902)caaafs		marker of proliferation Ki-67																																				SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902204_129902205delTG	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7899_7900delCA	10.37:g.129902214_129902215delTG	ENSP00000357643:p.His2633fs					MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs	p.HK2633fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	8274_8275	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2633			16 X 122 AA approximate repeats.		Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	37	c.7899_7900delCA	CCDS7659.1																																																																																				0.500	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		9	252						9	252	---	---	---	---
FRG2B	441581	broad.mit.edu	37	10	135438960	135438960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr10:135438960delC	ENST00000425520.1	-	4	532	c.480delG	c.(478-480)aggfs	p.R160fs	FRG2B_ENST00000443774.1_Frame_Shift_Del_p.R161fs	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	160						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGGCCCGAGACCTATGCCGCT	0.557																																						ENST00000443774.1																			0				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20						c.(481-483)agfs		FSHD region gene 2 family, member B							117.0	141.0	133.0					10																	135438960		2195	4299	6494	SO:0001589	frameshift_variant	441581					nucleus		g.chr10:135438960delC	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.480delG	10.37:g.135438960delC	ENSP00000401310:p.Arg160fs					FRG2B_ENST00000425520.1_Frame_Shift_Del_p.R160fs	p.R161fs			Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	4	532	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	160					Q5VSQ1	Frame_Shift_Del	DEL	ENST00000425520.1	37	c.483delG	CCDS44502.1																																																																																				0.557	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		7	417						7	417	---	---	---	---
KRTAP5-2	440021	broad.mit.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657																																						ENST00000412090.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(277-309)ggt>gg		keratin associated protein 5-2																																				SO:0001651	inframe_deletion	440021					keratin filament		g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	11.37:g.1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENSP00000400041:p.Gly103_Gly112del					KRTAP5-AS1_ENST00000424148.1_RNA	p.GSKGGCGSCGG93del	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	322_351	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	93			6 X 4 AA repeats of C-C-X-P.		A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	CCDS31331.1																																																																																				0.657	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		19	211						19	211	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55653610	55653610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:55653610delA	ENST00000449290.2	+	3	515	c.423delA	c.(421-423)ctafs	p.L141fs	TRIM51_ENST00000244891.3_5'UTR	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	141						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AGGAGCTCCTAAAAAAAATGC	0.403																																						ENST00000449290.2																			0											c.(421-423)ctfs		tripartite motif-containing 51				1,23,4240		0,0,1,10,3,2118	50.0	47.0	48.0				0.0	11		48	1,23,8230		0,0,1,8,7,4111	no	codingComplex	SPRYD5	NM_032681.3		0,0,2,18,10,6229	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2908,0.5629,0.3834			55653610	2,46,12470	692	1591	2283	SO:0001589	frameshift_variant	84767					intracellular	zinc ion binding	g.chr11:55653610delA	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.423delA	11.37:g.55653610delA	ENSP00000395086:p.Leu141fs					TRIM51_ENST00000244891.3_5'UTR	p.L141fs	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			3	515	+			141					A6NMG2	Frame_Shift_Del	DEL	ENST00000449290.2	37	c.423delA																																																																																					0.403	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		19	65						19	65	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49431260	49431264	+	Frame_Shift_Del	DEL	CTGGG	CTGGG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr12:49431260_49431264delCTGGG	ENST00000301067.7	-	34	9874_9878	c.9875_9879delCCCAG	c.(9874-9879)gcccagfs	p.AQ3292fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3292	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AAGACATGGCCTGGGCAGGGCCTGG	0.61																																						ENST00000301067.7																			0											c.(9874-9879)gfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49431260_49431264delCTGGG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9875_9879delCCCAG	12.37:g.49431260_49431264delCTGGG	ENSP00000301067:p.Ala3292fs						p.AQ3292fs	NM_003482.3	NP_003473.3					34	9874_9878	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.9875_9879delCCCAG	CCDS44873.1																																																																																				0.610	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	4						6	4	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_In_Frame_Del_p.K159del|RP11-173P15.3_ENST00000535720.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						ENST00000228506.3																			1	Substitution - coding silent(1)	p.E233E(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(697-699)del		malectin				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del					MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	p.E238del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			5	1125_1127	+			238			Poly-Glu.			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		8	320						8	320	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086237	20086237	+	RNA	DEL	T	T	-	rs569592353|rs373441912	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr14:20086237delT	ENST00000548261.1	+	0	51																											GGTGTGTGTGTGGGGGGGTAT	0.388													|||unknown(STR2?)	915	0.182708	0.2443	0.1686	5008	,	,		35626	0.1429		0.1511	False		,,,				2504	0.183					ENST00000548261.1																			0																																																			0							g.chr14:20086237delT																													14.37:g.20086237delT														0	51	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.388	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			8	31						8	31	---	---	---	---
PARP2	10038	broad.mit.edu	37	14	20825824	20825825	+	In_Frame_Ins	INS	-	-	GCG			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr14:20825824_20825825insGCG	ENST00000250416.5	+	16	1647_1648	c.1620_1621insGCG	c.(1621-1623)gca>GCGgca	p.541_541A>AA	PARP2_ENST00000429687.3_In_Frame_Ins_p.528_528A>AA|PARP2_ENST00000527915.1_3'UTR	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	541	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CATTAGGACCAGCAAGTGACAC	0.416								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000250416.5																			0				central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15						c.(1618-1623)cccaag>ccGCGcaag	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2																																				SO:0001652	inframe_insertion	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20825824_20825825insGCG	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	Exception_encountered	14.37:g.20825824_20825825insGCG	ENSP00000250416:p.Ala541dup					PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_In_Frame_Ins_p.527_528PK>PRK	p.540_541PK>PRK	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	16	1647_1648	+	all_cancers(95;0.00092)	all_lung(585;0.235)	540			PARP catalytic.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	In_Frame_Ins	INS	ENST00000250416.5	37	c.1620_1621insGCG	CCDS41910.1																																																																																				0.416	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			44	128						44	128	---	---	---	---
MRPL52	122704	broad.mit.edu	37	14	23299408	23299409	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr14:23299408_23299409insG	ENST00000355151.5	+	3	132_133	c.102_103insG	c.(103-105)gccfs	p.A35fs	MRPL52_ENST00000397505.2_Frame_Shift_Ins_p.A35fs|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000397496.3_Frame_Shift_Ins_p.A34fs|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000557221.1_5'UTR|MRPL52_ENST00000432849.3_Frame_Shift_Ins_p.A34fs	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	35					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		AGGGACTGGCTGCCAACCCCTC	0.594																																						ENST00000355151.5																			0											c.(100-105)gcccaafs		mitochondrial ribosomal protein L52			,,,,,	11,4253		0,11,2121					,,,,,	0.3	1.0			67	49,8205		0,49,4078	no	frameshift,utr-5,utr-5,utr-5,frameshift,frameshift	MRPL52	NM_181307.2,NM_181306.2,NM_181305.2,NM_181304.2,NM_180982.2,NM_178336.2	,,,,,	0,60,6199	A1A1,A1R,RR		0.5937,0.258,0.4793	,,,,,	,,,,,		60,12458				SO:0001589	frameshift_variant	122704				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr14:23299408_23299409insG	AK000450	CCDS9575.1, CCDS9576.1, CCDS41917.1, CCDS41918.1	14q11.2	2012-09-13			ENSG00000172590	ENSG00000172590		"""Mitochondrial ribosomal proteins / large subunits"""	16655	protein-coding gene	gene with protein product		611856				11551941, 11943462	Standard	NM_178336		Approved		uc001wgw.4	Q86TS9	OTTHUMG00000028703	ENST00000355151.5:c.103dupG	14.37:g.23299409_23299409dupG	ENSP00000347277:p.Ala35fs					MRPL52_ENST00000397505.2_Frame_Shift_Ins_p.Q35fs|MRPL52_ENST00000557221.1_5'UTR|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000432849.3_Frame_Shift_Ins_p.Q34fs|MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000397496.3_Frame_Shift_Ins_p.Q34fs	p.Q35fs	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	3	132_133	+	all_cancers(95;9.47e-05)		35					A6NMQ8|A8MXK5|A8MYI6|G3XCN9|Q6NVH8	Frame_Shift_Ins	INS	ENST00000355151.5	37	c.102_103insG	CCDS41917.1																																																																																				0.594	MRPL52-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071657.4	NM_180982		7	183						7	183	---	---	---	---
GLRX5	51218	broad.mit.edu	37	14	95999677	95999677	+	5'Flank	DEL	A	A	-	rs373834979		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr14:95999677delA	ENST00000331334.4	+	0	0				SNHG10_ENST00000554169.1_RNA|SNHG10_ENST00000555866.1_RNA|SNHG10_ENST00000500370.2_RNA|SCARNA13_ENST00000516672.1_RNA|SNHG10_ENST00000553559.1_RNA	NM_016417.2	NP_057501.2	Q86SX6	GLRX5_HUMAN	glutaredoxin 5						cell redox homeostasis (GO:0045454)|hemopoiesis (GO:0030097)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|protein disulfide oxidoreductase activity (GO:0015035)			large_intestine(1)|lung(1)	2		all_cancers(154;0.135)		Epithelial(152;0.133)|COAD - Colon adenocarcinoma(157;0.21)|all cancers(159;0.212)		CTCAAAGTTTAAAAAAAAAAA	0.353																																						ENST00000500370.2																			0																	25,19,1892		7,0,11,3,13,934	118.0	126.0	124.0			-1.1	0.0	14		126	13,57,4076		4,0,5,2,53,2009	no	near-gene-5				11,0,16,5,66,2943	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6884,2.2727,1.8744			95999677	38,76,5968	876	1991	2867	SO:0001631	upstream_gene_variant	283596							g.chr14:95999677delA	AF113691	CCDS9936.1	14q32.2	2007-08-16	2007-08-16	2005-11-11		ENSG00000182512			20134	protein-coding gene	gene with protein product		609588	"""chromosome 14 open reading frame 87"", ""glutaredoxin 5 homolog (S. cerevisiae)"""	C14orf87			Standard	NM_016417		Approved	PR01238, GRX5	uc001yem.1	Q86SX6			14.37:g.95999677delA	Exception_encountered					SNHG10_ENST00000553559.1_RNA|SNHG10_ENST00000555866.1_RNA|SNHG10_ENST00000554169.1_RNA								0	766	-								Q0X088|Q3YML0|Q86WY3|Q8IZ54	RNA	DEL	ENST00000331334.4	37		CCDS9936.1																																																																																				0.353	GLRX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414550.1			8	197						8	197	---	---	---	---
ULK4P3	89837	broad.mit.edu	37	15	30406088	30406089	+	RNA	INS	-	-	T	rs372975149		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr15:30406088_30406089insT	ENST00000568486.1	+	0	402				U8_ENST00000384701.1_RNA	NR_026859.1				ULK4 pseudogene 3																		TGCCTCAAAAGTTTTTTTTTTT	0.297																																						ENST00000568486.1																			0																																																			89837							g.chr15:30406088_30406089insT	BC023564		15q13.2	2014-03-20	2013-09-12	2011-11-25	ENSG00000178081	ENSG00000178081			15777	pseudogene	pseudogene			"""family with sequence similarity 7, member A3"", ""unc-51-like kinase 4 (C. elegans) pseudogene 3"""	FAM7A3		11829490	Standard	NR_026859		Approved	D-X	uc001zdk.3		OTTHUMG00000175637		15.37:g.30406099_30406099dupT								NR_026859.1						0	402	+									RNA	INS	ENST00000568486.1	37																																																																																						0.297	ULK4P3-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000430688.1			10	39						10	39	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79058941	79058943	+	In_Frame_Del	DEL	CGC	CGC	-	rs201562030|rs562053654|rs543268667	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr15:79058941_79058943delCGC	ENST00000388820.4	-	19	3520_3522	c.3310_3312delGCG	c.(3310-3312)gcgdel	p.A1104del	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1104					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCGTGGAGGGCGCAGCAGGATGG	0.68														254	0.0507188	0.1619	0.0231	5008	,	,		11860	0.0169		0.005	False		,,,				2504	0.002					ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3310-3312)del		ADAM metallopeptidase with thrombospondin type 1 motif, 7																																				SO:0001651	inframe_deletion	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058941_79058943delCGC	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3310_3312delGCG	15.37:g.79058941_79058943delCGC	ENSP00000373472:p.Ala1104del						p.A1104del	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3520_3522	-			1104					Q14F51|Q6P7J9	In_Frame_Del	DEL	ENST00000388820.4	37	c.3310_3312delGCG	CCDS32303.1																																																																																				0.680	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		4	8						4	8	---	---	---	---
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr16:32077916_32077917insTTT	ENST00000354689.6	+	0	294				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		ATGGAAAACGGTTATTTTTTTG	0.421																																						ENST00000566806.1																			0																																																			0							g.chr16:32077916_32077917insTTT	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077916_32077917insTTT														0	499	-									RNA	INS	ENST00000354689.6	37																																																																																						0.421	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			3	5						3	5	---	---	---	---
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)gagdel	p.E91del	COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576																																						ENST00000262507.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(262-264)del		coenzyme Q9																																				SO:0001651	inframe_deletion	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486732_57486734delGAG	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.262_264delGAG	16.37:g.57486741_57486743delGAG	ENSP00000262507:p.Glu91del					COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del	p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			3	331_333	+			91					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	In_Frame_Del	DEL	ENST00000262507.6	37	c.262_264delGAG	CCDS32459.1																																																																																				0.576	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		7	459						7	459	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56056587	56056589	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr17:56056587_56056589delTGT	ENST00000581208.1	-	5	1102_1104	c.1062_1064delACA	c.(1060-1065)caacat>cat	p.Q354del	VEZF1_ENST00000584396.1_In_Frame_Del_p.Q345del	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	354	Poly-Gln.			Missing (in Ref. 1; BAA05663). {ECO:0000305}.	angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCTTGTCACAtgttgttgttgtt	0.473																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1033-1038)cat>ca		vascular endothelial zinc finger 1				460,95,3709		10,1,439,6,82,1594						2.0	0.9			207	126,113,8013		0,1,125,12,88,3900	no	codingComplex	VEZF1	NM_007146.2		10,2,564,18,170,5494	A1A1,A1A2,A1R,A2A2,A2R,RR		2.8963,13.0159,6.3439				586,208,11722				SO:0001651	inframe_deletion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056587_56056589delTGT	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1062_1064delACA	17.37:g.56056596_56056598delTGT	ENSP00000462337:p.Gln354del					VEZF1_ENST00000581208.1_In_Frame_Del_p.QH354del	p.QH345del			Q14119	VEZF1_HUMAN			5	1123_1125	-			354			Poly-Gln.			In_Frame_Del	DEL	ENST00000581208.1	37	c.1035_1037delACA	CCDS32687.1																																																																																				0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			7	285						7	285	---	---	---	---
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs11468351|rs5839847|rs6147263	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccggcg>ccg	p.A159del		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	159	Poly-Ala.						poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768														4335	0.865615	0.8343	0.9395	5008	,	,		8937	0.8065		0.9423	False		,,,				2504	0.8374					ENST00000382352.3																			3	Deletion - In frame(3)	p.A159delA(3)	prostate(2)|large_intestine(1)	endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(460-465)ccg>c		zinc finger, CCHC domain containing 3																																				SO:0001651	inframe_deletion	85364						nucleic acid binding|zinc ion binding	g.chr20:278688_278690delCGG	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.461_463delCGG	20.37:g.278697_278699delCGG	ENSP00000371789:p.Ala159del						p.PA154del	NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	952_954	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	154					Q3B7J3|Q6NT79	In_Frame_Del	DEL	ENST00000382352.3	37	c.461_463delCGG	CCDS42844.1																																																																																				0.768	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			12	19						12	19	---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23438215	23438215	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr22:23438215delG	ENST00000248996.4	+	2	999	c.333delG	c.(331-333)acgfs	p.T111fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	111					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TTGCGCTGACGGGCCCCGCTG	0.687																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(331-333)acfs		guanine nucleotide binding protein (G protein), alpha z polypeptide							69.0	76.0	73.0					22																	23438215		2203	4299	6502	SO:0001589	frameshift_variant	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438215delG		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.333delG	22.37:g.23438215delG	ENSP00000248996:p.Thr111fs					RTDR1_ENST00000216036.4_Intron	p.T111fs	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	999	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		111					B2R6C1|Q4QRJ6	Frame_Shift_Del	DEL	ENST00000248996.4	37	c.333delG	CCDS13804.1																																																																																				0.687	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		77	166						77	166	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-	rs369450592		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		7	63						7	63	---	---	---	---
